Subjects -> MEDICAL SCIENCES (Total: 8690 journals)
    - ALLERGOLOGY AND IMMUNOLOGY (220 journals)
    - ANAESTHESIOLOGY (121 journals)
    - CARDIOVASCULAR DISEASES (338 journals)
    - CHIROPRACTIC, HOMEOPATHY, OSTEOPATHY (21 journals)
    - COMMUNICABLE DISEASES, EPIDEMIOLOGY (236 journals)
    - DENTISTRY (294 journals)
    - DERMATOLOGY AND VENEREOLOGY (163 journals)
    - EMERGENCY AND INTENSIVE CRITICAL CARE (124 journals)
    - ENDOCRINOLOGY (151 journals)
    - FORENSIC SCIENCES (42 journals)
    - GASTROENTEROLOGY AND HEPATOLOGY (189 journals)
    - GERONTOLOGY AND GERIATRICS (138 journals)
    - HEMATOLOGY (158 journals)
    - HYPNOSIS (4 journals)
    - INTERNAL MEDICINE (178 journals)
    - LABORATORY AND EXPERIMENTAL MEDICINE (99 journals)
    - MEDICAL GENETICS (58 journals)
    - MEDICAL SCIENCES (2415 journals)
    - NURSES AND NURSING (370 journals)
    - OBSTETRICS AND GYNECOLOGY (207 journals)
    - ONCOLOGY (386 journals)
    - OPHTHALMOLOGY AND OPTOMETRY (141 journals)
    - ORTHOPEDICS AND TRAUMATOLOGY (170 journals)
    - OTORHINOLARYNGOLOGY (83 journals)
    - PATHOLOGY (100 journals)
    - PEDIATRICS (275 journals)
    - PHYSICAL MEDICINE AND REHABILITATION (158 journals)
    - PSYCHIATRY AND NEUROLOGY (833 journals)
    - RADIOLOGY AND NUCLEAR MEDICINE (192 journals)
    - RESPIRATORY DISEASES (105 journals)
    - RHEUMATOLOGY (79 journals)
    - SPORTS MEDICINE (81 journals)
    - SURGERY (406 journals)
    - UROLOGY, NEPHROLOGY AND ANDROLOGY (155 journals)

MEDICAL SCIENCES (2415 journals)            First | 1 2 3 4 5 6 7 8 | Last

Showing 201 - 400 of 3562 Journals sorted alphabetically
Asian Biomedicine     Open Access   (Followers: 2)
Asian Journal of Cell Biology     Open Access   (Followers: 6)
Asian Journal of Health     Open Access   (Followers: 3)
Asian Journal of Medical and Biological Research     Open Access   (Followers: 5)
Asian Journal of Medical and Pharmaceutical Researches     Open Access   (Followers: 2)
Asian Journal of Medical Sciences     Open Access   (Followers: 2)
Asian Journal of Medicine and Health     Open Access   (Followers: 1)
Asian Journal of Research in Medical and Pharmaceutical Sciences     Open Access   (Followers: 1)
Asian Journal of Scientific Research     Open Access   (Followers: 3)
Asian Journal of Transfusion Science     Open Access   (Followers: 1)
Asian Medicine     Hybrid Journal   (Followers: 5)
Asian Pacific Journal of Cancer Prevention     Open Access  
Asian Pacific Journal of Health Sciences     Open Access   (Followers: 16)
ASPIRATOR : Journal of Vector-borne Disease Studies     Open Access  
Astrocyte     Open Access  
Atención Familiar     Open Access  
Atención Primaria     Open Access   (Followers: 2)
Atención Primaria Práctica     Open Access   (Followers: 1)
Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche     Open Access  
Audiology - Communication Research     Open Access   (Followers: 10)
AUP Advances     Open Access   (Followers: 14)
Auris Nasus Larynx     Full-text available via subscription  
Australasian Journal of Ultrasound in Medicine (AJUM)     Hybrid Journal   (Followers: 1)
Australian Coeliac     Full-text available via subscription   (Followers: 2)
Australian Family Physician     Full-text available via subscription   (Followers: 3)
Australian Journal of Medical Science     Full-text available via subscription   (Followers: 2)
Autopsy and Case Reports     Open Access  
Avicenna     Open Access   (Followers: 3)
Avicenna Journal of Clinical Medicine     Open Access  
Avicenna Journal of Medicine     Open Access   (Followers: 1)
Bangabandhu Sheikh Mujib Medical University Journal     Open Access   (Followers: 1)
Bangladesh Journal of Anatomy     Open Access   (Followers: 2)
Bangladesh Journal of Bioethics     Open Access  
Bangladesh Journal of Medical Biochemistry     Open Access   (Followers: 4)
Bangladesh Journal of Medical Education     Open Access   (Followers: 2)
Bangladesh Journal of Medical Microbiology     Open Access   (Followers: 4)
Bangladesh Journal of Medical Physics     Open Access   (Followers: 1)
Bangladesh Journal of Medical Science     Open Access  
Bangladesh Journal of Medicine     Open Access   (Followers: 1)
Bangladesh Journal of Physiology and Pharmacology     Open Access  
Bangladesh Journal of Scientific Research     Open Access   (Followers: 1)
Bangladesh Medical Journal     Open Access  
Bangladesh Medical Journal Khulna     Open Access  
Basal Ganglia     Hybrid Journal  
Basic Sciences of Medicine     Open Access   (Followers: 1)
Batı Karadeniz Tıp Dergisi / Medical Journal of Western Black Sea     Open Access  
Baylor University Medical Center Proceedings     Hybrid Journal  
BBA Clinical     Open Access  
BC Medical Journal     Free  
Benha Medical Journal     Open Access  
Beni-Suef University Journal of Basic and Applied Sciences     Open Access   (Followers: 3)
Bijblijven     Hybrid Journal  
Bijzijn     Hybrid Journal   (Followers: 1)
Bijzijn XL     Hybrid Journal  
Bio-Algorithms and Med-Systems     Hybrid Journal   (Followers: 2)
BioDiscovery     Open Access   (Followers: 2)
Bioelectromagnetics     Hybrid Journal   (Followers: 2)
Bioelectronic Medicine     Open Access   (Followers: 1)
Bioengineering & Translational Medicine     Open Access  
Bioethics     Hybrid Journal   (Followers: 21)
Bioethics Research Notes     Full-text available via subscription   (Followers: 15)
Biologics in Therapy     Open Access  
Biology of Sex Differences     Open Access   (Followers: 2)
Biomarker Research     Open Access   (Followers: 3)
Biomarkers in Medicine     Hybrid Journal   (Followers: 2)
BioMed Research International     Open Access   (Followers: 5)
Biomédica     Open Access  
Biomedical & Life Sciences Collection     Full-text available via subscription   (Followers: 3)
Biomedical and Biotechnology Research Journal     Open Access   (Followers: 1)
Biomedical Engineering     Hybrid Journal   (Followers: 16)
Biomedical Engineering and Computational Biology     Open Access   (Followers: 13)
Biomedical Engineering Letters     Hybrid Journal   (Followers: 6)
Biomedical Engineering Research     Open Access   (Followers: 7)
Biomedical Informatics Insights     Open Access   (Followers: 9)
Biomedical Journal     Open Access   (Followers: 4)
Biomedical Materials     Hybrid Journal   (Followers: 7)
Biomedical Microdevices     Hybrid Journal   (Followers: 9)
Biomedical Optics Express     Open Access   (Followers: 6)
Biomedical Photonics     Open Access  
Biomedical Reports     Full-text available via subscription  
Biomedical Research Reports     Full-text available via subscription   (Followers: 2)
Biomedical Safety & Standards     Full-text available via subscription   (Followers: 9)
Biomedical Science and Engineering     Open Access   (Followers: 7)
BioMedicine     Open Access  
Biomedicine Hub     Open Access  
Biomedicines     Open Access   (Followers: 1)
Biomedika     Open Access  
Biomolecular and Health Science Journal     Open Access   (Followers: 1)
Biophysics Reports     Open Access  
BioPsychoSocial Medicine     Open Access   (Followers: 8)
Biosafety and Health     Open Access   (Followers: 4)
Biosalud     Open Access   (Followers: 1)
Biostatistics & Epidemiology     Hybrid Journal   (Followers: 2)
Birat Journal of Health Sciences     Open Access  
BIRDEM Medical Journal     Open Access   (Followers: 1)
Birth Defects Research     Hybrid Journal  
Birth Defects Research Part A : Clinical and Molecular Teratology     Hybrid Journal   (Followers: 3)
Birth Defects Research Part C : Embryo Today : Reviews     Hybrid Journal  
BJR|Open     Open Access   (Followers: 1)
BJS Open     Open Access   (Followers: 1)
Black Sea Journal of Health Science     Open Access  
BLDE University Journal of Health Sciences     Open Access  
Blickpunkt Medizin     Hybrid Journal  
BMC Biomedical Engineering     Open Access  
BMC Medical Ethics     Open Access   (Followers: 23)
BMC Medical Research Methodology     Open Access   (Followers: 9)
BMC Medicine     Open Access   (Followers: 14)
BMC Obesity     Open Access   (Followers: 8)
BMC Proceedings     Full-text available via subscription   (Followers: 2)
BMC Research Notes     Open Access   (Followers: 4)
BMC Sports Science, Medicine and Rehabilitation     Open Access   (Followers: 35)
BMH Medical Journal     Open Access   (Followers: 2)
BMI Journal : Bariátrica & Metabólica Iberoamericana     Open Access  
BMJ     Hybrid Journal   (Followers: 1936)
BMJ Case Reports     Hybrid Journal   (Followers: 28)
BMJ Evidence-Based Medicine     Hybrid Journal   (Followers: 4)
BMJ Global Health     Open Access   (Followers: 3)
BMJ Innovations     Hybrid Journal   (Followers: 6)
BMJ Leader     Hybrid Journal  
BMJ Open     Open Access   (Followers: 44)
BMJ Open Quality     Open Access   (Followers: 19)
BMJ Open Science     Open Access   (Followers: 1)
BMJ Sexual & Reproductive Health     Hybrid Journal   (Followers: 2)
BMJ Surgery, Interventions, & Health Technologies     Open Access  
Bodine Journal     Open Access  
Boletín del Consejo Académico de Ética en Medicina     Open Access  
Boletín del ECEMC     Open Access  
Boletin Médico de Postgrado     Open Access  
Boletín Médico del Hospital Infantil de México     Open Access  
Bone     Hybrid Journal   (Followers: 17)
Bone and Tissue Regeneration Insights     Open Access   (Followers: 2)
Bone Marrow Research     Open Access   (Followers: 2)
Bone Reports     Open Access  
Bosnian Journal of Basic Medical Sciences     Open Access  
Bozok Tıp Dergisi / Bozok Medical Journal     Open Access  
Brachytherapy     Full-text available via subscription   (Followers: 6)
Brain and Development     Full-text available via subscription   (Followers: 5)
Brain Communications     Open Access   (Followers: 4)
Brain Connectivity     Hybrid Journal   (Followers: 5)
Brain Impairment     Full-text available via subscription   (Followers: 2)
Brazilian Journal of Medical and Biological Research     Open Access  
Brazilian Journal of Medicine and Human Health     Open Access  
Brazilian Journal of Pain (BrJP)     Open Access  
Brazilian Journal of Physical Therapy     Open Access   (Followers: 2)
Breastfeeding Review     Full-text available via subscription   (Followers: 21)
British Journal of Biomedical Science     Full-text available via subscription   (Followers: 7)
British Journal of General Practice     Full-text available via subscription   (Followers: 40)
British Journal of Hospital Medicine     Full-text available via subscription   (Followers: 16)
British Medical Bulletin     Hybrid Journal   (Followers: 6)
Buddhachinaraj Medical Journal     Open Access  
Bulletin Amades     Open Access  
Bulletin de la Société de pathologie exotique     Hybrid Journal   (Followers: 1)
Bulletin of Legal Medicine     Open Access  
Bulletin of Medical Sciences     Open Access  
Bulletin of the History of Medicine     Full-text available via subscription   (Followers: 21)
Bulletin of the Menninger Clinic     Full-text available via subscription  
Bulletin of The Royal College of Surgeons of England     Free  
Bulletin of the Scientific Centre for Expert Evaluation of Medicinal Products     Open Access  
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz     Hybrid Journal   (Followers: 6)
Burapha Journal of Medicine     Open Access  
Burns     Hybrid Journal   (Followers: 10)
Cadernos de Naturologia e Terapias Complementares     Open Access   (Followers: 1)
Calcified Tissue International     Hybrid Journal   (Followers: 2)
Canadian Bulletin of Medical History     Hybrid Journal   (Followers: 1)
Canadian Family Physician     Partially Free   (Followers: 13)
Canadian Journal of Pain     Open Access   (Followers: 2)
Canadian Journal of Rural Medicine     Full-text available via subscription   (Followers: 1)
Canadian Medical Association Journal     Open Access   (Followers: 18)
Canadian Medical Education Journal     Open Access   (Followers: 10)
Canadian Prosthetics & Orthotics Journal     Open Access  
Cannabis and Cannabinoid Research     Hybrid Journal   (Followers: 2)
Cardiac Electrophysiology Clinics     Full-text available via subscription   (Followers: 1)
Care Management Journals     Hybrid Journal   (Followers: 5)
Case Reports     Open Access  
Case Reports in Acute Medicine     Open Access   (Followers: 2)
Case Reports in Clinical Medicine     Open Access   (Followers: 2)
Case Reports in Clinical Nutrition     Open Access   (Followers: 1)
Case Reports in Clinical Pathology     Open Access   (Followers: 1)
Case Reports in Medicine     Open Access   (Followers: 3)
Case Reports in Transplantation     Open Access  
Case Reports in Vascular Medicine     Open Access  
Case Reports in Women's Health     Open Access   (Followers: 4)
Case Study and Case Report     Open Access   (Followers: 5)
CASUS : Revista de Investigación y Casos en Salud     Open Access   (Followers: 1)
CBU International Conference Proceedings     Open Access   (Followers: 3)
Cell & Bioscience     Open Access   (Followers: 6)
Cell Adhesion & Migration     Open Access   (Followers: 9)
Cell and Molecular Response to Stress     Full-text available via subscription   (Followers: 2)
Cell and Tissue Transplantation and Therapy     Open Access   (Followers: 2)
Cell Cycle     Full-text available via subscription   (Followers: 6)
Cell Death and Differentiation     Hybrid Journal   (Followers: 8)
Cell Death Discovery     Open Access   (Followers: 1)
Cell Health and Cytoskeleton     Open Access   (Followers: 1)
Cell Medicine     Open Access   (Followers: 6)
Cell Research     Hybrid Journal   (Followers: 9)
Cell Transplantation     Open Access   (Followers: 4)
CEN Case Reports     Hybrid Journal  
Central African Journal of Medicine     Full-text available via subscription  
Cephalalgia Reports     Open Access   (Followers: 5)
Ceylon Journal of Medical Science     Open Access  

  First | 1 2 3 4 5 6 7 8 | Last

Similar Journals
Journal Cover
BMJ Case Reports
Journal Prestige (SJR): 0.213
Number of Followers: 28  
 
  Hybrid Journal Hybrid journal (It can contain Open Access articles)
ISSN (Print) 1757-790X
Published by BMJ Publishing Group Homepage  [68 journals]
  • Metastatic basaloid squamous cell carcinoma of thymic origin
    • Authors: Phen, S; Wang, M. X, Kelling, M, Bhattal, G. K.
      Abstract: A 57-year-old man with a known anterior mediastinal mass presented with abdominal distension, jaundice, and signs of urinary and bowel obstruction. Labs revealed leukocytosis, transaminitis, direct hyperbilirubinaemia and elevated levels of alkaline phosphatase, lactate dehydrogenase and uric acid. Subsequent imaging revealed the anterior mediastinal mass and diffuse liver lesions consistent with metastatic disease. MRI of the spine and brain were negative for metastases. Liver biopsy and immunohistochemistry revealed basaloid squamous cell carcinoma of thymic origin. Treatment with capecitabine was initiated but was complicated by worsening liver and kidney failure. Eventually, due to continued worsening of the patient’s condition and minimal treatment response, capecitabine was stopped during cycle 1 and the patient was discharged to inpatient hospice with comfort care. In this case report, we highlight the presenting features, imaging findings and management of a patient with metastatic thymic carcinoma.
      Keywords: Drugs: gastrointestinal system, Liver disease, Gastroenterology, Oncology, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Chemotherapy
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2018-228860
      Issue No: Vol. 12, No. 9 (2019)
       
  • Metastasis in mixed epithelial stromal tumour of the kidney: a rare
           presentation
    • Authors: Holkar, P. S; Jain, T, Kavishwar, V, Pandya, J. S.
      Abstract: Mixed epithelial stromal tumour of the kidney (MESTK) is a rare genitourinary tract tumour. MESTK is typically seen in perimenopausal women and rarely reported in men and children. MESTK has been included in the WHO renal tumour classification since 2004. Here, we present a case of 50-year-old female patient who underwent left radical nephrectomy for left renal mass. Postoperative positron emission tomography (PET) scan also showed nodal metastasis, for which, she was started on chemotherapy.
      Keywords: Oncology, Surgery, Urology, Rare disease, Urological cancer, General surgery, Urological surgery
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-229293
      Issue No: Vol. 12, No. 9 (2019)
       
  • Linagliptin-associated bullous pemphigoid treated with rituximab
    • Authors: Mani, H; Safo, P, Onitilo, A. A.
      Abstract: Dipeptidyl peptidase 4 (DPP-4) inhibitors are increasingly used these days in management of diabetes. There has been reported in a few case reports of increasing association between DPP-4 inhibitor use and bullous pemphigoid (BP). We report a case of association between linagliptin use and BP and subsequent treatment with rituximab.
      Keywords: Endocrine system, Drug interactions, Contraindications and precautions, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Dermatology
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-229902
      Issue No: Vol. 12, No. 9 (2019)
       
  • Primary cytomegalovirus infection with invasive disease in a patient with
           inflammatory bowel disease
    • Authors: Gong, J; Meyerowitz, E. A, Isidro, R. A, Kaye, K. M.
      Abstract: A 37-year-old woman with a history of inflammatory bowel disease on mercaptopurine presented with a week of recurrent fever, headache, myalgias and mildly elevated serum transaminases and leucopenia. Her workup revealed primary cytomegalovirus (CMV) infection with atypical lymphocytosis, elevated viral load, positive IgM and negative IgG. Two weeks after her initial presentation, she developed odynophagia and diarrhoea prompting endoscopic evaluation with biopsies, which demonstrated CMV disease of the gastrointestinal tract. Her fever and systemic symptoms improved rapidly with initiation of intravenous ganciclovir. She was transitioned to and maintained on oral valganciclovir until two and half months after discharge when her symptoms and lab abnormalities had fully subsided.
      Keywords: Infection (gastroenterology), Inflammatory bowel disease, Infections, Gastroenterology, Infectious diseases, Unusual presentation of more common disease/injury, Drugs and medicines, Pathology
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230056
      Issue No: Vol. 12, No. 9 (2019)
       
  • Anterior elbow dislocation without fracture in an adult: a rare injury
           pattern
    • Authors: Vijayan, S; Chalappurath, V, Jose, S, Rao, S. K.
      Abstract: Anterior elbow dislocation without periarticular fracture (simple dislocation) is an extremely rare injury and is usually caused by distraction or torsional forces. It is important to look for associated ligamentous and musculotendinous injuries in this pattern. We report an elderly patient who sustained simple anterior dislocation of the elbow and in whom successful closed reduction could be achieved. Reduction by closed method is possible if we know the exact mechanism of elbow injury. Despite the presence of medial collateral ligament injury, he was managed non-operatively and had full functional recovery. Checking for joint stability and collateral ligaments after reduction and getting additional radiological investigations help in better treatment planning. Early protected active mobilisation should be initiated to achieve better functional results.
      Keywords: Ligament rupture, Rare disease, Sports and exercise medicine, Occupational and environmental medicine, Accidents, injuries
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230115
      Issue No: Vol. 12, No. 9 (2019)
       
  • Primary small cell carcinoma of the urinary bladder
    • Authors: Qayoom, S; Chakrabarti, D, Khan, F, Goel, M. M.
      Abstract: Small cell carcinoma of the urinary bladder (SCCB) is an extremely rare but aggressive tumour constituting less than 0.7% of all urinary bladder tumours. It is often misdiagnosed as transitional cell carcinoma, owing to the similarities in presentation. Diagnosis of SCCB is based on the WHO criteria for small cell lung carcinoma. A 58-year-old man who had presented with haematuria and burning micturition for 3 months was initially diagnosed as high-grade muscle-invasive urothelial carcinoma based on the TURBT specimen. The patient was put on neoadjuvant chemotherapy, but presented again with haematuria and back pain after 3 months. Imaging studies showed a lesion in the posterolateral wall of the urinary bladder, along with partial collapse and anterior wedging of L1 vertebra. He underwent TURBT, and on the basis of histopathology and immunohistochemistry, a diagnosis of primary SCCB bladder with vertebral metastasis was made.
      Keywords: Oncology, Surgery, Urology, Rare disease, Urological cancer, Radiotherapy, Pathology, Urological surgery, Hematuria
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230185
      Issue No: Vol. 12, No. 9 (2019)
       
  • A case of catecholamine-induced cardiomyopathy treated with extracorporeal
           membrane oxygenation
    • Authors: Garla, V. V; Gosi, S, Kanduri, S, Lien, L.
      Abstract: A 55-year-old female patient was presented with severe dyspnea due to sudden onset of heart failure (ejection fraction (EF)
      Keywords: Cardiovascular medicine, Intensive care, Endocrine system, Endocrinology, Novel treatment (new drug/intervention; established drug/procedure in new situation), Drugs and medicines, Heart failure, Mechanical ventilation, Adrenal disorders
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230196
      Issue No: Vol. 12, No. 9 (2019)
       
  • Antifungals in a case of basidiobolomycosis: role and limitations
    • Authors: Saeed, A; Assiri, A. M, Bukhari, I. A, Assiri, R.
      Abstract: A 10-year-old Saudi boy was diagnosed to have basidiobolomycosis after a stormy course of his ailment. Therapy was initiated with intravenous antifungal, voriconazole, which was well tolerated for 6 weeks except for local excoriation at the site of ileostomy. He developed drug-induced hepatitis on oral voriconazole, therefore, switched to oral itraconazole following which he experienced severe chest pain. Alternatively, co-trimoxazole (bactrim) an antibacterial with antifungal activity was prescribed but he had the intolerance to it as well. Unfortunately, posaconazole as an alternative antifungal was not available in our centre. We report here a Saudi boy who developed an intolerance to most common antifungals used clinically 6 weeks after the therapy was initiated.
      Keywords: Paediatrics, Unexpected outcome (positive or negative) including adverse drug reactions, Pharmacology and therapeutics, Unwanted effects / adverse reactions
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230206
      Issue No: Vol. 12, No. 9 (2019)
       
  • Use of three-dimensional printing and intraoperative navigation in the
           surgical resection of metastatic acetabular osteosarcoma
    • Authors: Heunis, J. C; Cheah, J. W, Sabnis, A. J, Wustrack, R. L.
      Abstract: A 21-year-old man underwent a joint-preserving posterior acetabular resection of metastatic osteosarcoma using a three-dimensional (3D) printed model and intraoperative navigation. The combined application of these advanced technologies can allow for surgical planning of osteotomies involving complex anatomy and help guide resections intraoperatively. They can maximise the achievement of negative oncological margins, preservation of native hip stability and critical neurovascular structures, and optimal postoperative function in an effort to resect all clinically evident disease. For this particular patient, with secondary bony metastases, they allowed for a safe and well-tolerated procedure that ultimately afforded him palliative benefit, improved quality of life and, conceivably, prolonged survival in the setting of a devastating prognosis. Although he, sadly, has since passed away, he survived for over 2 years after initial metastasis with preserved hip stability and the ability to graduate college, stay active and maintain a quality of life that addressed his goals of care.
      Keywords: Palliative care, Surgery, Orthopaedics, End of life decisions (palliative care), Orthopaedic and trauma surgery
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230238
      Issue No: Vol. 12, No. 9 (2019)
       
  • Spontaneous splenic rupture in a patient with infectious mononucleosis
    • Authors: Baker, C. R; Kona, S.
      Abstract: We present a case of spontaneous, atraumatic splenic rupture secondary to Epstein-Barr virus (EBV) infection, in a young, female patient. Splenic rupture is a rare complication of EBV infection, but is associated with the highest mortality. Additionally, this case illustrates the diagnostic challenge in a patient presenting in atypical manner, with only left-sided pleuritic chest pain, and lacking any of the classical tonsillitis symptoms associated with EBV infection.
      Keywords: Infection (gastroenterology), Liver disease, Hepatitis other, Emergency medicine, Gastroenterology, Infectious diseases, Surgery, Unusual presentation of more common disease/injury
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230259
      Issue No: Vol. 12, No. 9 (2019)
       
  • An unusual presentation of atrial myxoma: thromboembolic phenomenon with a
           recent normal echocardiogram
    • Authors: Rofe, A; Fazio, T. N, Jones, N, Al-Kaisey, A. M.
      Abstract: Atrial myxomas are the most common primary neoplasms of the heart. Clinical presentation varies from asymptomatic incidental masses to serious life-threatening cardiovascular complications. We describe the case of a 37-year-old man who presented with both coronary and cerebral embolisation secondary to an atrial myxoma in the context of a recent normal transthoracic echocardiogram.
      Keywords: Cancer - see Oncology, Cardiovascular medicine, Unusual presentation of more common disease/injury, Cancer -see Oncology, Interventional cardiology, Surgical diagnostic tests
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230266
      Issue No: Vol. 12, No. 9 (2019)
       
  • Streptococcus pyogenes peritonitis: a rare, lethal imitator of
           appendicitis
    • Authors: Johnson, M; Bartscherer, A, Tobin, E, Tafen, M.
      Abstract: Streptococcus pyogenes is a common cause of infection. Since 2010, the Centers for Disease Control has noted a 24% rise in invasive S. pyogenes infections with a mortality rate of 10%. We present a case series and review of the English literature. Two patients presented with findings concerning for appendicitis, each underwent laparoscopic appendectomies. Both had diffuse peritoneal inflammation without appendicitis, cultures grew S. pyogenes and both recovered with appropriate antibiotics. Thirty cases were identified in a review of the English literature. The average age was 27 years, 75% were in women, 9% were immunocompromised, 15% had rashes and 88% underwent surgical intervention. Previous work identified female gender, immunosuppression and preceding varicella infection as risk factors for invasive S. pyogenes. Given the similarities to appendicitis, early suspicion can influence antibiotic therapy and possibly improve outcomes.
      Keywords: Infectious diseases, Surgery, Rare disease, General surgery
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230490
      Issue No: Vol. 12, No. 9 (2019)
       
  • Ureterocolic fistula detected by mercaptoacetyltriglycine (MAG-3) diuretic
           
    • Authors: Draaisma, J; Janssen, M, Graafland, N, Stommel, M.
      Abstract: We describe the case of a 60-year-old man with a ureterocolic fistula following laparoscopic sigmoid resection. The fistulous tract between the left ureter and sigmoid colon was detected by mercaptoacetyltriglycine diuretic renography including single photon emission CT with low-dose CT. Ureteroneocystostomy was successfully performed.
      Keywords: Surgery, Urology, Novel diagnostic procedure, Radiology
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230559
      Issue No: Vol. 12, No. 9 (2019)
       
  • DUSP22-IRF4 rearrangement in AIDS-associated ALK-negative anaplastic large
           cell lymphoma
    • Authors: Wang, M; Kibbi, N, Ring, N, Siddon, A, Foss, F, Totonchy, M.
      Abstract: Patients with AIDS have increased risk of developing lymphomas, such as anaplastic large cell lymphoma (ALCL), which generally carry a poor prognosis. The DUSP-IRF4 genetic rearrangement in ALCL confers a favourable prognosis in HIV-negative patients; it is unknown how this interacts clinically with HIV/AIDS. A man aged 53 years presented with subcutaneous nodules on the scalp and axillae, and diffuse lymphadenopathy. Biopsy of subcutaneous nodule and lymph node showed large atypical anaplastic lymphocytes which were CD30+ and anaplastic lymphoma kinase-negative, consistent with primary systemic ALCL. In addition, he was found to be HIV-positive and diagnosed with AIDS. Genetic testing of the tissue revealed a DUSP22-IRF4 rearrangement. Complete remission was achieved with HyperCVAD and subsequent brentuximab vedotin monotherapy. We report a case of AIDS-associated primary systemic ALCL with a DUSP22-IRF4 rearrangement. AIDS-associated ALCL is an aggressive lymphoma, with a poor prognosis. However, the presence of the genetic rearrangement, previously unseen in this disease, drastically altered the disease course. This case highlights the value of genetic testing and identifies DUSP22-IRF4-associated ALCL in the setting of HIV-associated lymphoproliferative disorders.
      Keywords: Infectious diseases, Unusual association of diseases/symptoms, Genetics, Haematology (incl blood transfusion), HIV/AIDS, Dermatology
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230641
      Issue No: Vol. 12, No. 9 (2019)
       
  • Simple adrenal cyst masquerading clinically silent giant cystic
           pheochromocytoma
    • Authors: Kumar, S; Parmar, K. M, Aggarwal, D, Jhangra, K.
      Abstract: Pheochromocytoma (PCC) may present as a cystic or solid tumour. Cystic PCCs are difficult to differentiate from simple cysts in the absence of classic symptoms of PCCs. Cystic nature develops due to intralesional bleeding and necrosis. We present a case of young man without any comorbidity who was diagnosed as a simple adrenal cyst and planned for laparoscopic excision but found to be functional PCC during the time of surgery only. The patient was managed with extensive monitoring and use of multiple drugs to control blood pressure. Surgery was completed without any complication laparoscopically and postoperative period was also uneventful. Histopathology confirmed the diagnosis of cystic PCC. Our case also shows the importance of functional imaging like metaiodobenzylguanidine (MIBG) scan in doubtful cases of adrenal cysts when other biochemical markers are unremarkable to diagnosis. We emphasise the importance of meticulous preparation for any intraoperative disasters even for apparently simple adrenal cyst.
      Keywords: Cardiovascular medicine, Endocrinology, Surgery, Reminder of important clinical lesson, Hypertension, Interventional cardiology, Radiology (diagnostics), Urological surgery, Adrenal disorders
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230730
      Issue No: Vol. 12, No. 9 (2019)
       
  • Pellagra in the USA: unusual manifestations of a rare entity
    • Authors: Rivadeneira, A; Moyer, P, Salciccioli, J. D.
      Abstract: The case involves a 62-year-old female native of the USA with a history of bipolar disorder and chronic obstructive pulmonary disease who presented with intractable diarrhoea. Prior to the index admission, she was admitted to the intensive care unit and required pericardiocentesis for an idiopathic pericardial effusion with tamponade physiology. Following discharge, she suffered intractable diarrhoea and represented for medical evaluation. She had a painful, swollen tongue as well as persistent hypoglycaemia and required glucose infusions. She had adrenal function testing which revealed adrenal insufficiency. Vitamin testing revealed normal B12 and folate levels but undetectable levels of thiamine, riboflavin and niacin. Her symptoms and signs resolved entirely with appropriate vitamin supplementation. Niacin (vitamin B3) is essential for multiple metabolic pathways, and severe deficiency may cause clinical syndrome of pellagra which is most commonly associated with diarrhoea, delirium and dermatitis. Additional physiological derangements may include adrenal insufficiency, insulin hypersensitivity and pericarditis.
      Keywords: Cardiovascular medicine, Endocrinology, Nutrition and metabolism, Rare disease, Malnutrition, Vitamins and supplements, Adrenal disorders
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-230972
      Issue No: Vol. 12, No. 9 (2019)
       
  • Failed videolaryngoscopy in an infant with giant vallecular cyst managed
           successfully with a 'three-person technique of fibre-optic intubation
    • Authors: Gupta, A; Gupta, N.
      Abstract: Vallecular cysts are a rare entity but can complicate the airway management due to the physical impediment and distortion of the laryngeal inlet. It can lead to fatal life-threatening airway obstruction postinduction of anaesthesia. Infancy compounds the risks due to lack of cooperation and physiological reserves. The literature review suggested most anaesthesiologists avoided muscle relaxants and aspiration of the cyst was used as a rescue technique. The present case report illustrates the successful airway management of an infant with a huge vallecular cyst using fibre-optic intubation by a ‘three-person’ technique after paraglossal videolaryngoscopy failed to secure the airway.
      Keywords: Anaesthesia, Paediatrics, Surgery, Rare disease
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-231035
      Issue No: Vol. 12, No. 9 (2019)
       
  • Acute intermittent porphyria: analgesia can be dangerous
    • Authors: Silva, C. D; Mateus, J. E, Teles, C, Vaio, T.
      Abstract: Acute intermittent porphyria (AIP) is a rare condition, a metabolic disorder of the haem biosynthesis. An acute crisis of AIP can present as a combination of symptoms, such as abdominal pain, autonomic dysfunction, hyponatremia, muscle weakness and neurological symptoms in the absence of others obvious causes. We report the case of a 53-year-old woman, who was previously diagnosed with AIP 5 weeks after therapeutic suspension has developed an acute disease exacerbation. During hospitalisation, further exacerbation has occurred after analgesia with metamizole. Glucose and hemin infusions resulted in slow improvement. Physical rehabilitation was crucial to peripheral polyneuropathy recovery. Taking into account the porphyrinogenic effect described for metamizole, this drug might have triggered the second attack. Clinical history was sufficient to suspect the diagnosis and to start the treatment immediately, preventing important sequelae.
      Keywords: Anaesthesia, Contraindications and precautions, Endocrinology, Safety, Rehabilitation medicine, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Pharmacology and therapeutics, Pain (anaesthesia), Physi
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-231133
      Issue No: Vol. 12, No. 9 (2019)
       
  • A fatal case of levamisole induced bone marrow failure
    • Authors: George, J. T; Janeela, A. M, Sigamani, E, Mathuram, A. J.
      Abstract: A 20-year-old college student presented with high grade, intermittent fever for 10 days associated with blood stained loose stools after taking tablet levamisole for 17 days for vitiligo vulgaris. He was febrile, had a toxic appearance and appeared pale. Investigations showed neutropaenia with thrombocytopaenia. Blood cultures were sterile and stool cultures did not grow any enteric pathogens. His bone marrow examination was suggestive of an aplastic anaemia. He was administered empirical antibiotics, granulocyte colony stimulating factor and platelet transfusions. However, his fever and blood stained stools persisted. A repeat bone marrow examination after 2 weeks still revealed a hypoplastic marrow. Hence, a diagnosis of a levamisole induced bone marrow failure was made. While being worked up for an allogeneic stem cell transplantation, he developed neutropaenic enterocolitis and refractory septic shock with carbapenem resistant Klebsiella pneumoniae and succumbed to his illness.
      Keywords: Unexpected outcome (positive or negative) including adverse drug reactions, Pharmacology and therapeutics, General practice / family medicine, Haematology (incl blood transfusion), Toxicology
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-231167
      Issue No: Vol. 12, No. 9 (2019)
       
  • Refractive surprise: twice the SMILE
    • Authors: Bhutani, G; Murthy, S. I, Reddy, J. C, Vaddavalli, P. K.
      Abstract: A 35-year-old man presented with decreased vision in his left eye following small incision lenticule extraction (SMILE) surgery. The refractive error after surgery was nearly twice his preoperative refractive error in the left eye. The patient was diagnosed as having a retained lenticule after SMILE surgery, which was folded on itself and was successfully managed by conversion to a flap. Postoperatively, the patient maintained good uncorrected visual acuity and a low refractive error, with the best spectacle corrected acuity of 20/20.
      Keywords: Anterior chamber, Unexpected outcome (positive or negative) including adverse drug reactions, Ophthalmology
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-231233
      Issue No: Vol. 12, No. 9 (2019)
       
  • Vaginal delivery in the 30+4 weeks of pregnancy and organ donation after
           brain death in early pregnancy
    • Authors: Reinhold, A. K; Kredel, M, Markus, C. K, Kranke, P.
      Abstract: A 28-year-old woman suffered a traffic accident resulting in severe head injuries with deleterious prognosis. Diagnostics further revealed a hitherto unknown pregnancy, at suspected week 9. Based on the patient’s wish to donate organs, brain death protocol confirmed irreversible loss of brain function. Yet, vital pregnancy rendered organ transplantation impossible. Multiple ethical and legal issues arose, from invalidation of established legal care after brain death to the delivery of a healthy child after trauma and long-term critical care. After medicolegal and ethical counselling, pregnancy was sustained, and the goal of organ donation postponed. Critical care focused on foetal homeostasis. At 30+4 weeks, a viable girl was born via assisted vaginal delivery. Postpartal organ donation resulted in heart, kidney and pancreas transplantation. The case emphasises the medical, legal and ethical challenges to combine two apparently diametrical goals: the successful full-term pregnancy and the fulfilment of a patient’s wish to donate organs.
      Keywords: Emergency medicine, Obstetrics and gynaecology, Unusual presentation of more common disease/injury, Neurology, Trauma CNS / PNS, Pregnancy, Neonatal and paediatric intensive care, Adult intensive care, Ethics, Trauma
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-231601
      Issue No: Vol. 12, No. 9 (2019)
       
  • Atypical presentation of IgG4-related disease as an isolated inferior
           orbital mass
    • Authors: Gaur, N; Samdani, A, Meel, R, Bajaj, M. S.
      Keywords: Images in..., Immunology (including allergy), Ophthalmology
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-231609
      Issue No: Vol. 12, No. 9 (2019)
       
  • Spontaneous pneumothorax in an infant: an unusual complication of
           pertussis
    • Authors: Bhattacharya, D; Sharma, Y. K, Muralidharan, J, Mathew, J. L.
      Keywords: Intensive care, Infectious diseases, Images in..., Tropical medicine (infectious diseases), Paediatric intensive care
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-231878
      Issue No: Vol. 12, No. 9 (2019)
       
  • Platelet phagocytosis in the bone marrow causing thrombocytopenia in
           extrapulmonary tuberculosis
    • Authors: Sahu, N; Adhya, A. K.
      Keywords: Infections, Images in..., Drugs and medicines, Haematology (incl blood transfusion), Pathology
      PubDate: 2019-09-30T02:55:12-07:00
      DOI: 10.1136/bcr-2019-232172
      Issue No: Vol. 12, No. 9 (2019)
       
  • Hypercalcaemia due to isolated elevation of 1,25-dihydroxyvitamin D in
           patients with Crohns disease
    • Authors: Inayat, F; Saleem, S, Mohyudin, A, Khan, Z.
      Abstract: Crohn’s disease is frequently associated with hypocalcaemia following poor calcium intake and decreased intestinal calcium absorption due to malabsorption-related vitamin D deficiency. Severe hypercalcaemia found in Crohn’s disease is an unusual clinical entity. We chronicle here the case of a patient who developed hypercalcaemia with elevated 1,25-dihydroxyvitamin D during Crohn’s disease exacerbation. Furthermore, we conducted a systematic literature search of MEDLINE, Cochrane, Embase, and Scopus databases regarding 1,25-dihydroxyvitamin D-associated hypercalcaemia in Crohn’s disease. A comprehensive review of the search results yielded a total of five case reports only. The data on patient demographics, clinical features, serum calcium levels, Crohn’s disease activity site, treatment strategy, hypercalcaemia resolution time and outcomes were collected and analysed. This paper illustrates that Crohn’s disease should be added to the list of granulomatous disorders responsible for 1,25-dihydroxyvitamin D-mediated hypercalcaemia. Physicians should maintain a high index of clinical suspicion for this potential complication for prompt management.
      Keywords: Inflammatory bowel disease, Crohn's disease, Endocrinology, Gastroenterology, Nutrition and metabolism, Unusual association of diseases/symptoms, Vitamins and supplements, Renal medicine, Fluid electrolyte and acid-base disturbances, Calcium and bon
      PubDate: 2019-09-26T00:01:43-07:00
      DOI: 10.1136/bcr-2019-230099
      Issue No: Vol. 12, No. 9 (2019)
       
  • Bilateral giant macular schisis in a case of Goldmann-Favre syndrome
    • Authors: Chawla, R; Banerjee, M.
      Abstract: We describe a case of a 23-year-old man with giant macular schisis which can be seen in Goldmann-Favre syndrome. Associated history of decreased night vision and an enhanced S cone electroretinogram helps in confirming the diagnosis. Swept source optical coherence tomography of the same helps in confirming the schisis and delineates the extent and level of schisis. Other differential diagnosis of bilateral macular schisis in a young man could be juvenile X-linked retinoschisis.
      Keywords: Macula, Retina, Rare disease, Ophthalmology
      PubDate: 2019-09-26T00:01:43-07:00
      DOI: 10.1136/bcr-2019-230351
      Issue No: Vol. 12, No. 9 (2019)
       
  • Idiopathic acute eosinophilic pneumonia
    • Authors: Pizzuto, M; Seychell, M, Caruana Montaldo, B, Mizzi, A.
      Abstract: A 44-year-old asthmatic male patient presented to the health centre with a 3-week history of coryzal symptoms, persistent productive sputum and shortness of breath. The chest X-ray (CXR) revealed symmetrical, perihilar airspace shadowed with peribronchial cuffing and bilateral reticular markings. The patient did not improve despite treatment, and hence a high resolution CT (HRCT) scan of the thorax was recommended. The HRCT showed smooth interlobular septal thickening, central perihilar soft tissue thickening and patches of ground glass changes. Both the CXR and HRCT findings, along with the symptoms and eosinophilia counts, were suggestive of idiopathic acute eosinophilic pneumonia (IAEP) which was confirmed on bronchoalveolar lavage. The patient was successfully treated with steroids. This case highlights the symptoms, diagnosis, management and treatment of IAEP. A rapid diagnosis of this rare disease is essential since it can be completely cured with correct management but can be fatal if left untreated. Once properly treated, this disease does not recur.
      Keywords: Respiratory system, Reminder of important clinical lesson, Drugs and medicines, Interventional cardiology, Respiratory medicine, Interstitial lung disease, Pneumonia (respiratory medicine), Radiology (diagnostics)
      PubDate: 2019-09-26T00:01:43-07:00
      DOI: 10.1136/bcr-2019-231095
      Issue No: Vol. 12, No. 9 (2019)
       
  • Acute subdural haematoma accompanied by anorexia nervosa
    • Authors: Isono, N; Santou, K, Ueda, N, Endou, T.
      Abstract: We report the case of a patient with anorexia nervosa accompanied by acute subdural haematoma following a fall. A 34-year-old Japanese woman had serious medical complications and brain atrophy. After careful nutritional treatment, her laboratory test results improved and brain atrophy was reversed, and we prevented to perform surgery. However, unexpected prominent oedema of her lower legs and pleural effusion occurred. After receiving treatment for these symptoms, she eventually returned to her former occupation and started following a normal diet. Very few cases of anorexia nervosa accompanied by intracranial haemorrhage have been reported. Coagulation disorder and brain atrophy are supposed to be the primary causes of haematoma formation in the present case. Intracranial haemorrhage likely occurs in patients with anorexia nervosa despite minor head trauma. Because anorexia nervosa is not rare and the age of such patients is advancing, knowledge regarding this disorder would be useful for neurosurgeons.
      Keywords: Nutrition, Emergency medicine, Psychiatry, Reminder of important clinical lesson, Drugs and medicines, Neurology, Neurological injury, Eating disorders, Trauma
      PubDate: 2019-09-26T00:01:43-07:00
      DOI: 10.1136/bcr-2019-231156
      Issue No: Vol. 12, No. 9 (2019)
       
  • Acute mesenteric ischaemia secondary to portal, splenic and superior
           mesenteric vein thrombosis
    • Authors: Burch, J; Enofe, I.
      Abstract: Mesenteric ischaemia represents an uncommon complication of splanchnic vein thrombosis which requires a high level of suspicion to diagnose in a timely manner. This report discusses a case of portal, splenic and superior mesenteric vein thrombosis leading to mesenteric ischaemia and infarct in a 79-year-old man. The diagnosis of acute mesenteric ischaemia and splanchnic vein thrombosis remains difficult due to the non-specific symptoms of these conditions. As diagnosis does continue to improve, treatment of acute mesenteric ischaemia using medical management has become increasingly possible before ischaemia advances to the point at which surgical resection is required.
      Keywords: Rare disease
      PubDate: 2019-09-24T03:25:56-07:00
      DOI: 10.1136/bcr-2019-230145
      Issue No: Vol. 12, No. 9 (2019)
       
  • Mixed Actinomyces israelii and Aggregatibacter actinomycetemcomitans
           infection causing empyema necessitatis and multiple skin abscesses in an
           immunocompetent patient
    • Authors: Kobayashi, T; Arshava, E, Ford, B, Sekar, P.
      Abstract: A 45-year-old- man presented with left chest wall pain, swelling and cough. Over a 2-month period he developed abscesses in the right foot, right anterior thigh, left buttock and left chest. Incision and drainage of the soft tissue abscesses and video-assisted thoracoscopic surgery to drain the loculated empyema contiguous with the chest wall abscess were performed as surgical management. Gram stain showed beaded Gram-positive rods and the culture initially grew Aggregatibacter actinomycetemcomitans and Eikenella corrodens. Pathological evaluation of the pleura showed sulfur granules and organisms consistent with Actinomyces spp. on Gomori methenamine silver stain; Actinomyces israelii was recovered in culture with extended incubation. The patient was treated for 3 weeks with ceftriaxone and oral metronidazole, followed by oral amoxicillin. Culture of A. actinomycetemcomitans with other findings consistent with actinomycosis warrants 6–12 months of antibiotic therapy.
      Keywords: Infectious diseases, Surgery, Rare disease
      PubDate: 2019-09-24T03:25:56-07:00
      DOI: 10.1136/bcr-2019-230287
      Issue No: Vol. 12, No. 9 (2019)
       
  • Diagnostic challenge of rapidly progressing sporadic Creutzfeldt-Jakob
           disease
    • Authors: Kwon, G. T; Kwon, M. S.
      Abstract: Antemortem assessment of sporadic Creutzfeldt-Jakob disease (sCJD) can be significantly hampered due to its rarity, low index of clinical suspicion and its non-specific clinical features. We present an atypical case of definitive sCJD. The patient died within 5 weeks of the disease onset. This unusually short duration of disease presented a significant diagnostic dilemma. The patient presented with 2-week history of sudden-onset cognitive decline, memory loss, aphasia and ataxia. MRI Diffusion-weighted sequences revealed cortical ribboning sign without cerebral atrophy. Protein 14-3-3 from cerebrospinal fluid (CSF) was detected, and postmortem brain autopsy confirmed the diagnosis of sCJD. This case underscores the importance of considering CJD as a potential diagnosis for rapidly progressive dementia. Serology tests, EEG, MRI and CSF study are invaluable diagnostic tools when assessing for sCJD. Appropriate use of those diagnostic tests, along with a detailed clinical examination, can successfully and promptly exclude other differential diagnoses and confirm sCJD.
      Keywords: Open access, Rare disease, Neurology, Dementia, Infection (neurology), Neuroimaging
      PubDate: 2019-09-24T03:25:56-07:00
      DOI: 10.1136/bcr-2019-230535
      Issue No: Vol. 12, No. 9 (2019)
       
  • Rare brown tumour of the mandible secondary to tertiary
           hyperparathyroidism in a renal transplant recipient
    • Authors: Gueroult, A. M; Cameron, M.
      Abstract: Brown tumours are rare osteolytic lesions that occur secondary to hyperparathyroidism (HPT). In 2% of all cases, the craniofacial bones are affected, most frequently the mandible. HPT is classified according to aetiology into three types, of which tertiary HPT is the rarest. Here we present the case of a 42-year-old man who had received a renal transplant 16 years previously and was referred due to swelling on the right side of his jaw. An orthopantomogram revealed a multilocular radiolucency in the right body of the mandible. The bony lesion was treated by surgical enucleation. After histopathological examination of the lesion, the diagnosis of brown tumour of the mandible secondary to tertiary HPT was reached. The patient’s recovery was uneventful and follow-up radiography showed good bone healing.
      Keywords: Endocrinology, Surgery, Editor's choice, Rare disease, Renal medicine, Fluid electrolyte and acid-base disturbances, Renal transplantation, Oral and maxillofacial surgery, Calcium and bone
      PubDate: 2019-09-24T03:25:56-07:00
      DOI: 10.1136/bcr-2019-231231
      Issue No: Vol. 12, No. 9 (2019)
       
  • Parainfectious optic neuritis followed by microcystic macular oedema
    • Authors: Hipolito-Fernandes, D; Elisa-Luis, M, Trigo, M, Tavares-Ferreira, J.
      Abstract: Parainfectious optic neuritis is a very rare cause of acute vision loss. We present a case of a 51-year-old man with a recent upper respiratory tract infection, presumably of viral aetiology, who showed up with complains of painless right eye vision loss, followed by the same symptoms on the left eye 3 weeks later. Ophthalmological examination revealed optic disc swelling (sequential in severity) which was confirmed by optic disc imaging. The remaining evaluations (lumbar puncture, MRI, laboratory and genetic testing) were completely normal. Considering a postviral aetiology, 5-day intravenous methylprednisolone treatment was performed. Follow-up examinations revealed slight visual acuity and visual fields recovery, with subsequent optic disc atrophy and microcystic macular oedema, bilaterally. This case illustrates how important a correct clinical history is to guide a correct diagnosis and posterior management.
      Keywords: Retina, Rare disease, Neurology, Neuroophthalmology, Ophthalmology
      PubDate: 2019-09-24T03:25:56-07:00
      DOI: 10.1136/bcr-2019-231442
      Issue No: Vol. 12, No. 9 (2019)
       
  • Pulmonary embolism occurring early after major trauma
    • Authors: Serchan, P; Shorten, G, Maher, M, Power, S. P.
      Abstract: Pulmonary embolism (PE) secondary to trauma is the third most common cause of death in trauma patients who have survived 24 hours following injury. We describe a case of PE diagnosed within 3 hours of a major trauma in a previously well adolescent female. The early occurrence of PE in this case is at odds with what is generally reported (3–5 days) after major trauma. General consensus is that patients who suffer major trauma move from an initial hypocoaguable state, with increased risk of bleeding, to normocoagulable or hypercoaguable state, with a subsequent increased risk of venothromboembolism. However, Sumislawski et al recently demonstrated that a marginally greater proportion of trauma patients were in fact hypercoaguable rather than hypocoaguable on arrival to hospital and that trauma-induced coagulopathy tended to resolve within 24 hours; such data cause us to re-evaluate when to commence thromboprophylaxis for major trauma patients.
      Keywords: Rare disease
      PubDate: 2019-09-20T08:15:26-07:00
      DOI: 10.1136/bcr-2018-228783
      Issue No: Vol. 12, No. 9 (2019)
       
  • Takotsubo cardiomyopathy triggered by wasabi consumption: can sushi break
           your heart'
    • Authors: Finkel-Oron, A; Olchowski, J, Jotkowitz, A, Barski, L.
      Abstract: Takotsubo cardiomyopathy is a left ventricular dysfunction that typically occurs after sudden intense emotional or physical stress and mimics myocardial infarction. We describe a case of a 60-year-old woman that presented to the emergency department with chest pain after she attended a wedding and ate a large amount of wasabi, assuming it to be an avocado. To the best of our knowledge, this is the first report of takotsubo cardiomyopathy triggered by wasabi consumption.
      Keywords: Unusual association of diseases/symptoms
      PubDate: 2019-09-20T08:15:26-07:00
      DOI: 10.1136/bcr-2019-230065
      Issue No: Vol. 12, No. 9 (2019)
       
  • A left-sided cerebrospinal fluid hydrothorax and a right
           ventricular-peritoneal shunt: a unique clinical case study
    • Authors: Hopkins, D; Pattman, S, Jones, R, Aujayeb, A.
      Abstract: We describe the case of a 84-year-old woman with a right ventricular-peritoneal shunt and a left-sided pleural effusion, the analysis of which was positive for cerebrospinal fluid. We consider the potential causative mechanisms. Our patient was managed conservatively due to her frailty, the effusion being asymptomatic and her preference not to pursue further invasive diagnostic testing. This case report is unique due to the contralateral nature of the effusion to the shunt, which has not been described before in the literature.
      Keywords: Rare disease
      PubDate: 2019-09-20T08:15:26-07:00
      DOI: 10.1136/bcr-2019-230236
      Issue No: Vol. 12, No. 9 (2019)
       
  • Chronic migraine headache and multiple dental pathologies causing cranial
           pain for 35 years: the neurodental nexus
    • Authors: Reyes, A. J; Ramcharan, K, Maharaj, R.
      Abstract: We report a case that illustrates how chronic migraine headaches and multiple dental pathologies caused severe and long-standing cranial pain that affected the quality of life of a man for more than 35 years. His case was investigated at several settings including the neurology outpatient clinic of the hospital without a definitive diagnosis or resolution. After investigations, multiple oral pathologies including two occult dental abscesses were diagnosed. Once both affected teeth and associated abscesses were surgically removed, with subsequent antibiotic therapy the headaches resolved.
      Keywords: Editor's choice, Reminder of important clinical lesson
      PubDate: 2019-09-20T08:15:26-07:00
      DOI: 10.1136/bcr-2019-230248
      Issue No: Vol. 12, No. 9 (2019)
       
  • A complicated wound
    • Authors: Brito, T; Oliveira, I, Teles, H, Carmo, S.
      Keywords: Images in...
      PubDate: 2019-09-20T08:15:26-07:00
      DOI: 10.1136/bcr-2019-230525
      Issue No: Vol. 12, No. 9 (2019)
       
  • Use of negative-pressure wound therapy and split-thickness skin autograft
           to cover an exposed renal transplant
    • Authors: McKinnon, V. E; Barkho, J, McRae, M. H.
      Abstract: Exposure of a renal transplant through the abdominal wall is a rare event. A search of the literature reveals only six documented cases which used skin autograft for coverage, with none reported since 1981, and none which used negative-pressure wound therapy (NPWT) to prepare the recipient bed. This case report demonstrates that NPWT followed by split thickness skin graft is a reconstructive option which is feasible in patients who are at high risk for surgical complications in prolonged flap surgery.
      Keywords: Novel treatment (new drug/intervention; established drug/procedure in new situation)
      PubDate: 2019-09-20T08:15:26-07:00
      DOI: 10.1136/bcr-2019-231197
      Issue No: Vol. 12, No. 9 (2019)
       
  • Extrapelvic endometrioma presenting as acute incarcerated right inguinal
           hernia in a postpartum patient
    • Authors: Azhar, E; Mohammadi, S. M, Ahmed, F. M, Waheed, A.
      Abstract: A 33-year-old postpartum patient, who had an uncomplicated repeat caesarean section 4 weeks prior, presented with a 2-day history of acute right lower quadrant, incisional and groin pain. She was found to have a palpable tender lump in the right groin. A CT scan with contrast identified fluid along the anterior abdominal wall of the right lower quadrant (inguinal region) measuring about 1.7 cm, a preliminary diagnosis of an incarcerated inguinal hernia was made and the patient underwent immediate surgery. The hernia sac was dissected free and had chocolate cyst that was confirmed to be endometrioma on histopathology. The hernia defect was repaired. Postoperative, the patient did well and was discharged home. We emphasise to consider this differential diagnosis of extrapelvic inguinal endometrioma in reproductive-aged women with or without history of endometriosis especially in a post-caesarean patient who has atypical presentations.
      Keywords: Unusual presentation of more common disease/injury
      PubDate: 2019-09-20T08:15:26-07:00
      DOI: 10.1136/bcr-2019-231213
      Issue No: Vol. 12, No. 9 (2019)
       
  • Recurrent immune thrombocytopenia following different vaccines
    • Authors: Morin, E; Sadarangani, M.
      Abstract: A boy developed immune thrombocytopenia 2 weeks after receiving his measles-mumps-rubella and varicella vaccines at 12 months of age. He then had a recurrent episode 1 week after the booster doses of his quadrivalent diphtheria-tetanus-pertussis-polio, pneumococcal and meningococcal group C vaccines at 5 years of age. On both the occasions he required hospitalisation and treatment with intravenous immunoglobulin. He received other vaccines, before and in between, without any adverse events. Future vaccines are to be determined on an individual risk-benefit basis and he will be reviewed at the age of 11 when his next routine immunisations are due.
      Keywords: Unexpected outcome (positive or negative) including adverse drug reactions
      PubDate: 2019-09-20T08:15:26-07:00
      DOI: 10.1136/bcr-2019-231260
      Issue No: Vol. 12, No. 9 (2019)
       
  • Dystrophic calcinosis cutis in autosomal recessive dystrophic
           epidermolysis bullosa
    • Authors: Bhari, N; Bharti, P.
      Abstract: A 6-year-old girl presented with a history of blistering and scarring in trauma-prone areas. On examination, calcium deposits were seen on bilateral palms and soles within her non-healing wounds. Clinical, genetic and radiological evaluation confirmed the diagnosis of autosomal recessive dystrophic epidermolysis bullosa with dystrophic calcification. The patient was started on topical 10% sodium thiosulfate for her calcinosis cutis. Identification and management of dystrophic calcification are important as it impairs wound healing.
      Keywords: Unusual association of diseases/symptoms
      PubDate: 2019-09-20T08:15:26-07:00
      DOI: 10.1136/bcr-2019-231287
      Issue No: Vol. 12, No. 9 (2019)
       
  • Total anomalous pulmonary venous drainage to persistent left superior vena
           cava: a unique configuration
    • Authors: Sinha, M; Pandey, N. N, Sharma, A.
      Keywords: Images in...
      PubDate: 2019-09-20T08:15:26-07:00
      DOI: 10.1136/bcr-2019-231898
      Issue No: Vol. 12, No. 9 (2019)
       
  • Worsening subcutaneous emphysema in a patient with tension pneumothorax
           following tube thoracostomy
    • Authors: Saha, A; Saha, B. K, Beegle, S.
      Keywords: Images in...
      PubDate: 2019-09-20T08:15:26-07:00
      DOI: 10.1136/bcr-2019-232360
      Issue No: Vol. 12, No. 9 (2019)
       
  • Perineal reconstruction using an inferior gluteal artery perforator flap
           after abdominoperineal resection
    • Authors: Nico Albano, M; Louro, J. M, Brito, I, Ramos, S.
      Abstract: The abdominoperineal resection is a surgical procedure which implies the removal of rectum, anal canal and the creation of a terminal colostomy. The most frequent complications of this type of surgery are haemorrhage, surgical wound complications, persistent perineal sinus and perineal hernia. Intraoperative haemorrhage or contamination and neoadjuvant radiotherapy are risk factors for the development of perineal complications. Perineal wound infection, with subsequent healing delay, has multifactorial aetiology and its incidence can reach up to 66% according to literature. The prevention of these complications requires adequate surgical technique to avoid or minimise the known risk factors. The treatment of a perineal wound complication depends on the clinical and radiographic findings. When there is no wound resolution in 6 months, it is considered a persistent sinus and treatment will probably require a flap. Several options of surgical treatment are available however, there are no randomised studies to determine which one is the best.
      Keywords: Surgery, Reminder of important clinical lesson, Gastrointestinal surgery, Plastic and reconstructive surgery
      PubDate: 2019-09-19T08:25:53-07:00
      DOI: 10.1136/bcr-2018-228613
      Issue No: Vol. 12, No. 9 (2019)
       
  • An infective cause for the limping child
    • Authors: Jumabhoy, I; Uzoho, C, Desai, V.
      Abstract: A 7-year-old girl presented with left hip pain and a limp, in the absence of any other systemic features, having recently been treated for a urinary tract infection. Examination revealed limited active hip movements on the left, with a tendency to weight bear on the contralateral side. Biochemical investigations were significant for raised inflammatory markers, and subsequent MRI imaging revealed osteomyelitis of the left pubis and ischium with an associated large soft tissue collection. Treatment was bimodal with surgical drainage and long-term antibiotics. The patient consequently recovered, without significant effect on either growth or mobility.
      Keywords: Infectious diseases, Paediatrics, Reminder of important clinical lesson, Bone and joint infections, Orthopaedics, Developmental paediatrics
      PubDate: 2019-09-19T08:25:53-07:00
      DOI: 10.1136/bcr-2018-228964
      Issue No: Vol. 12, No. 9 (2019)
       
  • Transnasal transpterygoid resection of meningoencephalocoele with
           abolition of seizures
    • Authors: Spinos, D; Unadkat, S, Nair, R, Grant, W.
      Abstract: Meningoencephalocoeles are herniations of intracranial contents through skull base defects. Patients may present with a plethora of symptoms ranging from cerebrospinal fluid (CSF) rhinorrhoea to epileptic convulsions, or indeed may be asymptomatic. We present a case of a 24-year-old man suffering from new onset, drug-resistant tonic–clonic seizures. Imaging studies revealed neural tissue and meninges protruding through the pterygoid portion of the sphenoid bone, into the anteromedial aspect of the middle cranial fossa. An image-guided endoscopic transnasal transpterygoid approach was carried out as a joint otolaryngological and neurosurgical procedure, resulting in the patient being seizure-free for over 12 months postoperatively. There is a paucity of literature supporting such an endoscopic approach to treat epilepsy secondary to a meningoencephalocoele. We illustrate that this is a safe and minimally invasive treatment option which ultimately rendered the patient free of all anticonvulsants.
      Keywords: Surgery, Neurology (drugs and medicines), Novel treatment (new drug/intervention; established drug/procedure in new situation), Drugs and medicines, Neurology, Epilepsy and seizures, Otolaryngology / ENT, Ear, nose and throat/otolaryngology
      PubDate: 2019-09-19T08:25:53-07:00
      DOI: 10.1136/bcr-2019-229661
      Issue No: Vol. 12, No. 9 (2019)
       
  • A rare case of Shewanella septicemia: risk factors, environmental
           associations and management
    • Authors: Latif, A; Kapoor, V, Vivekanandan, R, Reddy, J. T.
      Abstract: Shewanella species are Gram-negative, saprophytic, motile bacilli. Exposure to aquatic environment and raw fish ingestion have been defined as significant associated risk factors. The two species most commonly associated with human infections are Shewanella algae and Shewanella putrefaciens and major portion of infections (80%) caused by the former. Herein, we report a case of Shewanella septicaemia in a 70-year-old man in Omaha, NE who had no exposure to aquatic environment. To date, no defined treatment guidelines are present due to rarity of Shewanella infections, which is contributing to emerging antibiotic resistance.
      Keywords: Infectious diseases, Rare disease, Drugs: infectious diseases, Tropical medicine (infectious diseases)
      PubDate: 2019-09-19T08:25:53-07:00
      DOI: 10.1136/bcr-2019-230252
      Issue No: Vol. 12, No. 9 (2019)
       
  • Methamphetamine (N-methylamphetamine)-induced renal disease:
           underevaluated cause of end-stage renal disease (ESRD)
    • Authors: Baradhi, K. M; Pathireddy, S, Bose, S, Aeddula, N. R.
      Abstract: A 26-year-old Caucasian man with no medical history, except years of oral and intravenous drug abuse, presented with fatigue, shortness of breath, epistaxis and uncontrolled hypertension. He was pale with skin ecchymosis over his thighs and was anaemic, with severe renal failure and metabolic acidosis. Following initial clinical stabilisation of the patient, a renal biopsy was obtained, which showed vascular and glomerular changes consistent with thrombotic microangiopathic injury and advanced glomerulosclerosis. He was treated with antihypertensives and required haemodialysis. He admitted using ‘crystal meth’ regularly for many years, which is likely responsible for his renal failure. We present the case to illustrate methamphetamine-induced renal disease leading to end-stage renal disease and to bring awareness among practising clinicians, ancillary healthcare workers and public health professionals of this often undervalued cause of renal failure, which can be prevented.
      Keywords: Public health, Unexpected outcome (positive or negative) including adverse drug reactions, Pharmacology and therapeutics, Unwanted effects / adverse reactions, Drug misuse (including addiction), Renal medicine, Chronic renal failure
      PubDate: 2019-09-19T08:25:53-07:00
      DOI: 10.1136/bcr-2019-230288
      Issue No: Vol. 12, No. 9 (2019)
       
  • Oculopharyngeal muscular dystrophy (OPMD) and dementia in a 75-year-old
           female
    • Authors: Nisbet, M. K; Marshall, L.
      Abstract: Oculopharyngeal muscular dystrophy (OPMD) is a relatively rare, adult-onset disorder characterised by proximal limb weakness, progressive eyelid drooping and swallowing difficulties. Preliminary research suggests there could be a link between OPMD and dementia; however, the current literature is relatively limited and inconsistent. This case study describes a 75-year-old female with OPMD, presenting to an older adults community mental health team with memory problems and word finding difficulties. A neuropsychological assessment was carried out. The results of her assessment were difficult to interpret; she demonstrated impairments in most cognitive domains tested and her presentation did not appear to reflect any typical dementia profile. It was thought she was most likely presenting with a dementia; however, the exact aetiology remains unclear. The dementia could be a result of OPMD, vascular changes or both. This report emphasises the need for further research into the possible causal link between OPMD and dementia/cognitive decline.
      Keywords: Eye, Psychiatry, Unusual association of diseases/symptoms, Drugs and medicines, Neurology, Muscle disease, Memory disorders (psychiatry), Dementia due to medical condition, Dementia, vascular
      PubDate: 2019-09-19T08:25:53-07:00
      DOI: 10.1136/bcr-2019-230521
      Issue No: Vol. 12, No. 9 (2019)
       
  • Dapagliflozin (SGLT2-i) induced euglycaemic diabetic ketoacidosis
    • Authors: Leader, R; Cowen, J, Rajeev, S. P.
      Abstract: Sodium glucose co-transporter-2 inhibitors (SGLT2-i) have become a popular therapeutic strategy in the management of hyperglycaemia in type 2 diabetes mellitus. The primary site of action of SGLT2-i is at the proximal renal convoluted tubule. They work by blocking SGLT2 receptors, sodium-dependent glucose co-transport molecules, which in turn prevents glucose reabsorption, facilitating glucosuria, improving glycaemic control as well as a moderate degree of weight loss. We report the case of a 51-year-old woman admitted to the acute medical unit with abdominal pain and vomiting, who was diagnosed with euglycaemic diabetic ketoacidosis secondary to recent initiation of an SGLT2-i medication (dapagliflozin). Clinicians should be aware of this rare side effect of SGLT2-i, to circumvent delays in patient management.
      Keywords: Endocrinology, Unexpected outcome (positive or negative) including adverse drug reactions, Pharmacology and therapeutics, Unwanted effects / adverse reactions, Diabetes, Drugs: endocrine system
      PubDate: 2019-09-19T08:25:53-07:00
      DOI: 10.1136/bcr-2019-231104
      Issue No: Vol. 12, No. 9 (2019)
       
  • Endoscopic management of limy bile syndrome presenting with obstructive
           jaundice
    • Authors: AlMuhsin, A. M; Altaweel, A, Abouleid, A.
      Abstract: Limy bile syndrome is a rare entity in which there is an excessive precipitation of calcium salts, mainly calcium carbonate in the gallbladder (GB) and to a rare extent in the common bile duct (CBD), making it radiopaque in plain radiographs. Laparoscopic cholecystectomy is safe and effective in patients with limy bile confined to the GB. However, for patients with an extension to the CBD, bile duct exploration with a T-tube placement, endoscopic naso-billiary drainage or endoscopic sphincterotomy (EST) may be warranted. We report a case of limy bile syndrome associated with obstructive jaundice in a young female patient. She was managed successfully with EST followed by laparoscopic cholecystectomy.
      Keywords: Endoscopy, Gastroenterology, Surgery, Rare disease
      PubDate: 2019-09-19T08:25:53-07:00
      DOI: 10.1136/bcr-2019-231798
      Issue No: Vol. 12, No. 9 (2019)
       
  • Symptomatic stress reaction of the humerus in a professional cricketer
    • Authors: Beech, M; Nagra, N. S, Wedatilake, T, Kluzek, S.
      Abstract: A symptomatic bone stress reaction is an early pathological feature, which can lead to stress fractures. It typically affects bones of the lower limbs in response to unaccustomed disproportional compressive loading. Professional sportspeople are susceptible to both bone stress reaction and stress fractures, where training regimes and competition predispose to overuse injuries. We discuss a unique case of a professional cricketer developing pain in the throwing arm due to bone stress reaction in the distal humerus, as confirmed on MRI. Modification of the patient’s training regime, presented in this case, facilitated complete recovery within 6 weeks. The positive response to modified training suggests a biomechanical origin of the pain. This case illustrates that tensile stress associated with throwing activities can result in a symptomatic bone stress reaction of the humerus in elite cricketers.
      Keywords: Musculoskeletal and joint disorders, Unusual presentation of more common disease/injury, Drugs and medicines, Radiology, Sports and exercise medicine, Physiotherapy
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2018-227088
      Issue No: Vol. 12, No. 9 (2019)
       
  • Recovery of second trimester pre-eclampsia after fetal reduction of a
           triplet
    • Authors: bij de Weg, J. M; de Groot, C. J, Pajkrt, E, de Boer, M. A.
      Abstract: Women with a multiple pregnancy are at increased risk of developing hypertensive disorders of pregnancy. We describe a case of a dichorionic triamniotic triplet pregnancy complicated by severe hypertension, proteinuria and maternal symptoms, fitting with the diagnosis of pre-eclampsia, apart from the early gestational age of only 16 weeks. After reduction of the monochorionic pair, the disease resolved and pre-eclampsia was diagnosed again at 30 weeks of gestation, resulting in a delivery on maternal indication at 33 weeks of gestation. In a review of the literature, we found six papers including eight cases on multifetal pregnancy reduction on maternal indication. Multifetal pregnancy reduction resulted in a prolongation of pregnancy of two to 21 weeks and may be considered in extreme early onset pre-eclampsia in dichorionic multiple pregnancies.
      Keywords: Obstetrics and gynaecology, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Pregnancy
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2018-227667
      Issue No: Vol. 12, No. 9 (2019)
       
  • Postural orthostatic tachycardia syndrome in primary care: diagnosis,
           treatment and a case of African-American man presenting with POTS
    • Authors: Del Pozzi, A. T; Enechukwu, M, Blitshteyn, S.
      Abstract: Postural orthostatic tachycardia syndrome (POTS) is a heterogeneous autonomic disorder characterised by orthostatic intolerance and a rise in heart rate by at least 30 bpm or an absolute heart rate value of at least 120 bpm within 10 min of standing or during a tilt table test. Overwhelmingly, POTS affects young Caucasian women, which can lead physicians to miss the diagnosis in men or non-white patients. We describe a case of 29-year-old African-American man who developed lightheadedness, generalised weakness, tachycardia and palpitations and was subsequently diagnosed with POTS. We review its clinical features, differential diagnosis, pathophysiology and treatment options. We also emphasise that POTS should be considered as a differential diagnosis in any patient presenting with typical clinical features, who may not be in the usual demographics of the disorder.
      Keywords: Emergency medicine, Neurology (drugs and medicines), Unusual presentation of more common disease/injury, Drugs and medicines, General practice / family medicine, Neurology, Primary care
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-229824
      Issue No: Vol. 12, No. 9 (2019)
       
  • Severe bilateral Legg-Calve-Perthes resolved with pamidronate in
           combination with casts, physiotherapy and adductor tenotomy: a pictorial
           essay over 11 years
    • Authors: Logan, L; Haider, S, Brauer, C, Miettunen, P. M.
      Abstract: We describe an 11-year prospective clinical and radiologic course of a 6-year-old boy with bilateral Legg-Calvé-Perthes disease, who was treated with intravenous pamidronate (IV-PAM). His baseline radiographs showed grade IV avascular necrosis/Catterall stage IV, and at worst he progressed to lateral pillar/Herring stage C bilaterally. His disease initially was extremely functionally limiting with expected poor outcome with eventual joint replacement. Because IV-PAM stops bone breakdown and allows for ongoing bone formation while revascularisation of bone occurs, we hypothesised that IV-PAM could act as an adjunct to traditional treatment to help heal the femoral heads. Our patient received nine once monthly doses of IV-PAM (1 mg/kg/dose) over 13 months, along with Petrie/broomstick casts and physiotherapy. Remarkably, over time, his femoral heads healed. Now, at 11-year follow-up, he has excellent functional and radiologic outcome with congruence between femoral head and acetabulum, no residual osteonecrosis and minimal loss of femoral head sphericity.
      Keywords: Paediatrics, Therapeutic indications, Open access, Novel treatment (new drug/intervention; established drug/procedure in new situation), Pharmacology and therapeutics, Orthopaedics
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-229919
      Issue No: Vol. 12, No. 9 (2019)
       
  • Delayed onset bioabsorbable screw reaction, intact screw extrusion and
           Pseudomonas aeruginosa tibial tunnel osteomyelitis years after
           arthroscopic anterior cruciate ligament reconstruction using hamstring
           graft
    • Authors: Dumlao, P. I. E; Paner, N, Bathan, L, Lim, B. A.
      Abstract: Postoperative reaction and infection after anterior cruciate ligament (ACL) reconstruction is a rare complication. We report two cases of bioabsorbable screw extrusion and Pseudomonas aeruginosa tibial tunnel infection in 17/18-year-old men, 2 and 4 years after ACL reconstruction, respectively. They underwent tibial tunnel debridement, removal of the still intact poly-L-D-lactic acid bioabsorbable screw and subsequent wound closure. Physical examination findings confirmed patency of the hamstring graft. Culture guided antibiotics were completed, and wounds healed unremarkably. Both returned to previous level of activity. Successful treatment is achieved through a logical sequence of management, as well as a multidisciplinary approach to prevent unnecessary secondary procedures and morbidity.
      Keywords: Infectious diseases, Unusual association of diseases/symptoms, Pharmacology and therapeutics, Bone and joint infections, Orthopaedics, Unwanted effects / adverse reactions
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-229927
      Issue No: Vol. 12, No. 9 (2019)
       
  • Concerned doctor and an apprehensive patient: case of calcified bilateral
           vas deferens
    • Authors: Mehdi, S; Agarwal, S, Kumar, M, Sankhwar, S.
      Keywords: Endocrinology, Urology, Images in..., Radiology, Diabetes
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-230336
      Issue No: Vol. 12, No. 9 (2019)
       
  • Secondary syphilis presenting with acute unilateral vision loss and a
           widespread maculopapular rash
    • Authors: Trevelyan, G; Kumar, K, Russell, G. K, Wickremasinghe, M.
      Abstract: Syphilis infection has shown a marked resurgence over the past several years. Ocular involvement is a rare complication of syphilis, occurring in approximately 1% of cases. We present the case of a man in his 50s who presented to hospital with acute unilateral vision loss and a widespread maculopapular rash. Ophthalmological examination showed unilateral optic disc swelling and bilateral vitritis. Intracranial imaging revealed no acute pathology. Initial blood tests were normal apart from mildly elevated inflammatory markers. A comprehensive autoimmune and infection screen revealed positive syphilis serology. The patient was subsequently treated for syphilis with ocular involvement with a course of intravenous benzylpenicillin, resulting in rapid symptomatic improvement. This case highlighted the importance of considering syphilis infection as part of the differential diagnosis for unexplained multisystemic symptoms, such as loss of vision in combination with dermatological involvement.
      Keywords: Sexual transmitted infections (bacterial), Unusual association of diseases/symptoms, Ophthalmology, Sexual health, Dermatology, Syphilis
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-230341
      Issue No: Vol. 12, No. 9 (2019)
       
  • Adult intussusception associated with mesenteric Meckels diverticulum and
           antimesenteric ileal polyp
    • Authors: McGrath, A. K; Suliman, F, Thin, N, Rohatgi, A.
      Abstract: Meckel’s diverticulum is the most common congenital abnormality affecting the gastrointestinal tract, affecting 4% of the general population. It is classically located on the antimesenteric border of the ileum within 100 cm of the ileocaecal valve. Complications may include haemorrhage, bowel obstruction, diverticulitis, perforation and malignancy. This report explores the case of intussusception in an adult, in association with a mesenteric Meckel’s diverticulum and adjacent benign polyp. A 40-year-old man presented with acute abdominal pain, affecting the central abdomen and both flanks. CT imaging revealed small bowel intussusception, with either a Meckel’s diverticulum or polyp acting as a lead point. Intraoperatively, the intussusception had already resolved; however, an inflamed outpouching was identified on the mesenteric border of the ileum, with a firm mass palpable within the bowel lumen. A 70 mm small bowel resection and primary anastomosis were performed. Histopathological analysis confirmed an inflamed Meckel’s diverticulum as well as an adjacent diverticulum comprising a benign polyp.
      Keywords: Gastrointestinal system, Gastroenterology, Surgery, Small intestine, Rare disease, Drugs and medicines, General surgery
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-230612
      Issue No: Vol. 12, No. 9 (2019)
       
  • Traumatic bruising of the hepatoduodenal ligament can conceal a
           catastrophic injury to the hepatic artery
    • Authors: Gerrard, A. D; Lunevicius, R, Heavey, N.
      Abstract: We present the case of a 22-year-old man transferred to the regional major trauma centre following a fall of ~15 m. He remained consistently haemodynamically stable for over 10 hours of observation until he deteriorated suddenly with major haemorrhagic shock requiring immediate trauma laparotomy. At laparotomy, 2 L of blood was drained from the abdomen but no source of active bleeding identified. 30 minutes after closure of the abdomen, 500 mL of fresh blood was noted in the drain so he was returned to the theatre where the bleeding source was found to be—after manual compression of a mildly bruised hepatoduodenal ligament—the proper hepatic artery (PHA). This case describes an unusual finding at relaparotomy and shows that even when there is no active bleeding from abdominal organs or classified vessels, it is possible to have isolated injury to PHA.
      Keywords: Emergency medicine, Surgery, Learning from errors, General surgery, Trauma
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-230706
      Issue No: Vol. 12, No. 9 (2019)
       
  • An unusual presentation of ACE inhibitor-induced visceral angioedema
    • Authors: Krause, A. J; Patel, N. B, Morgan, J.
      Abstract: ACE inhibitors (ACEi) are common anti-hypertensive drugs that can cause angioedema. Though classic, or facial angioedema is rare, visceral angioedema is even less common. When angioedema occurs, it typically presents early, within 30 days of initiating therapy. Visceral angioedema most commonly presents with nausea, emesis, abdominal pain and diarrhoea, and thus is often mistaken for an episode of gastroenteritis. When a CT scan is obtained, it typically shows characteristic findings, including ascetic fluid, mild mesenteric oedema and thickening of the small bowel. In this case report, we present a patient who did not experience her first episode of visceral angioedema until after she had been on ACEi therapy for 5–7 years. In addition, she experienced recurrent episodes of visceral angioedema that were separated by approximately 4 years at a time. Both of these features make for a particularly unique presentation.
      Keywords: Drugs: gastrointestinal system, Cardiovascular system, Gastroenterology, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Pharmacology and therapeutics, Unwanted effects / adverse reactions, Occupation
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-230865
      Issue No: Vol. 12, No. 9 (2019)
       
  • Prostaglandin E 2 in a preterm infant with coarctation of the aorta
    • Authors: Khodaghalian, B; Subhedar, N. V, Chikermane, A.
      Abstract: Prostaglandins are widely used in aortic coarctation to maintain ductal patency and preserve systemic perfusion until surgical intervention can be performed. Although the short-term use of prostaglandins to ameliorate aortic narrowing in neonates with a closed ductus has been reported, it has not been described as a longer term therapy in extremely preterm neonates. A 27-week gestation baby weighing 560 g presented at 40 days of age with coarctation and a closed ductus arteriosus. He was successfully treated with a 7-week course of prostaglandin E2 therapy because surgical intervention was not deemed feasible in view of his size. Treatment resulted in a relaxation of the aortic constriction and improvement in aortic blood flow velocity profile, highlighting the value of long-term prostaglandin therapy in this population and supporting the hypothesis that the presence of ductal tissue contributes to the development of juxtaductal aortic constriction in some extremely preterm infants.
      Keywords: Paediatrics, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Congenital disorders, Neonatal and paediatric intensive care
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-230910
      Issue No: Vol. 12, No. 9 (2019)
       
  • Secondary pulmonary alveolar proteinosis during corticosteroid therapy for
           organising pneumonia associated with myelodysplastic syndrome
    • Authors: Inoue, D; Marumo, S, Ishii, H, Fukui, M.
      Abstract: Myelodysplastic syndrome (MDS) is frequently complicated by pulmonary disease. Here, we describe secondary pulmonary alveolar proteinosis (sPAP) that developed during corticosteroid therapy for organising pneumonia (OP) associated with MDS. A 75-year-old woman with MDS complained of cough for 2 weeks. Chest CT showed bilateral patchy consolidations with reversed halo sign. Bronchoalveolar lavage (BAL) examination showed remarkably increased cell density with an increased lymphocyte proportion. Abnormal radiological findings improved rapidly on administration of systemic corticosteroid under the diagnosis of OP; however, they relapsed a few weeks later. Transbronchial lung biopsy showed periodic acid-Schiff stain-positive amorphous materials. Autoantibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF) in serum and BAL fluid (BALF) were both negative, while GM-CSF level in BALF was elevated. The patient was diagnosed with sPAP. When chest radiological findings show exacerbation during corticosteroid therapy for OP in a patient with MDS, physicians should consider sPAP complication as a differential diagnosis.
      Keywords: Unusual association of diseases/symptoms, Haematology (incl blood transfusion), Respiratory medicine, Interstitial lung disease
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-231055
      Issue No: Vol. 12, No. 9 (2019)
       
  • Insidious onset of headache, diplopia and Horners syndrome: a rare case of
           petrous bone osteomyelitis
    • Authors: Biart, S; Panicker, J.
      Abstract: We present an unusual case of skull base osteomyelitis in an 88-year-old woman. She presented with gradual onset unilateral headache and diplopia. On examination, there was evidence of a left-sided Horner’s and ipsilateral sixth nerve palsy. In addition to persistent raised inflammatory markers, an MRI neck identified signal change in the petrous bone confirming a diagnosis of skull base osteomyelitis. Skull base osteomyelitis should be considered in presentations of subacute raised inflammatory markers in the context of ipsilateral cranial nerve signs.
      Keywords: Rare disease, Neurology, Cranial nerves, Headache (including migraine), Infection (neurology)
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-231062
      Issue No: Vol. 12, No. 9 (2019)
       
  • Skin nodules in a young patient with HIV/AIDS
    • Authors: Hashmi, H; Alexander, J. S.
      Abstract: AIDS-related Kaposi sarcoma (KS) is a malignancy seen in patients with HIV/AIDS that results from unrestrained human herpesvirus 8 infection. It can have an atypical presentation and an aggressive clinical course in patients with uncontrolled HIV infection. We present an interesting case of AIDS-related KS with an atypical initial presentation with skin nodules and debilitating lymphoedema. Patient was successfully managed with supportive measures, antiretroviral therapy and systemic chemotherapy.
      Keywords: Malignant disease and immunosuppression, Infectious diseases, Unusual association of diseases/symptoms, Drugs and medicines, HIV/AIDS
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-231096
      Issue No: Vol. 12, No. 9 (2019)
       
  • Permanent lesion to the corticospinal tract after therapy with
           capecitabine
    • Authors: Wagner-Altendorf, T. A; Heldmann, M, Hanssen, H, Münte, T. F.
      Abstract: Capecitabine is an oral fluoropyrimidine used to treat solid tumours such as colorectal and breast cancer. A rare but severe side effect is capecitabine-induced leukoencephalopathy, including bilateral lesion to the corticospinal tract. However, neurological symptoms due to capecitabine treatment are usually reported to be reversible after discontinuation of capecitabine. Here, we present the case of a patient with bilateral degeneration of the corticospinal tract and progressive spastic tetraplegia after chemotherapy with capecitabine mimicking primary lateral sclerosis. Although therapy with capecitabine was ended, symptoms substantially worsened over the following years and the patient finally died from aspiration pneumonia almost 3 years after the application of capecitabine.
      Keywords: Malignant disease and immunosuppression, Oncology, Neurology (drugs and medicines), Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Drugs and medicines, Motor neurone disease, Chemotherapy
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-231248
      Issue No: Vol. 12, No. 9 (2019)
       
  • Florid papillomatosis of the nipple
    • Authors: Dinesh, B. J; Hayati, F, Azizan, N, Abdul Rashid, N. F.
      Abstract: Florid papillomatosis (FP) of the nipple, or nipple adenoma, is a rare breast tumour, affecting middle-aged group population. A 46-year-old woman presented to us with a cauliflower-like FP of the right nipple with no blood stained discharge or breast lump. FP can be mistaken clinically for Paget’s disease and occasionally misinterpreted as invasive ductal or intraductal carcinoma. Extensive intervention, correct diagnosis and prompt treatment are essential. Any breast pathology requires triple assessment including FP of the nipple. Once the diagnosis of ductal carcinoma is excluded, simple complete excision can be undertaken. This is to ensure complete obliteration of disease recurrence and preservation of cosmetic result. We discuss the pathology and psychosocial aspects of FP.
      Keywords: Unusual presentation of more common disease/injury, Drugs and medicines, Breast surgery, General surgery
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-231516
      Issue No: Vol. 12, No. 9 (2019)
       
  • Optic shrinkage and retraction in opacified hydrophilic acrylic
           intraocular lens: an anterior segment optical CT-based observation
    • Authors: Agarwal, R; Bhardwaj, M, Chetan, C, Sharma, N.
      Abstract: Intraocular lens (IOL) opacification is a rare phenomenon noted with hydrophilic acrylic IOLs. We report a case of advanced IOL opacification appreciated on anterior segment optical CT (ASOCT)as a shrunken biconcave optic retracted away from the posterior capsule (PC), unlike the other eye which had a clear biconvex IOL of similar material abutting the PC. After IOL exchange, the affected eye was noted to have more folds and Elschnig’s pearls on the PC when compared with the other eye. Our case points towards rare IOL changes seen in advanced cases of opacification, their association with posterior capsular changes and the aid of ASOCT as a non-invasive tool in diagnosing them correctly.
      Keywords: Anterior chamber, Unusual association of diseases/symptoms, Pharmacology and therapeutics, Ophthalmology, Unwanted effects / adverse reactions
      PubDate: 2019-09-18T23:00:50-07:00
      DOI: 10.1136/bcr-2019-231545
      Issue No: Vol. 12, No. 9 (2019)
       
  • Remission of treatment-resistant depression with tardive akathisia with
           electroconvulsive therapy
    • Authors: Emmanuel; T.
      Abstract: This report presents a case of drug-induced severe tardive akathisia developing after the combination of a selective serotonin reuptake inhibitor and an antipsychotic, in a woman with severe major depression. The trial and combination of multiple medications is common practice in treatment-resistant patients with depression. With the increase in the prevalence of treatment-resistant depression, adverse effects of medication such as tardive akathisia are becoming more common. Tardive akathisia persists even after the withdrawal of the causative agent and is very challenging to treat. The patient did not respond to any standard medications indicated for drug-induced akathisia. As a result, the patient became suicidal and extremely distressed with all treatment options exhausted. Guidelines on the management of drug-induced tardive akathisia are non-existent. This reflects the importance of this case study, which reveals the complete remission of both tardive akathisia and all the patient’s depressive symptoms after electroconvulsive therapy . This report provides evidence of an established treatment intervention used in a new situation.
      Keywords: Drug interactions, Psychiatry, Psychiatry (drugs and medicines), Open access, Novel treatment (new drug/intervention; established drug/procedure in new situation), Drugs and medicines, Pharmacology and therapeutics, Neurology, Movement disorders (o
      PubDate: 2019-09-18T22:49:23-07:00
      DOI: 10.1136/bcr-2019-229714
      Issue No: Vol. 12, No. 9 (2019)
       
  • Primary neuroendocrine carcinoma of the brain
    • Authors: Reed, C. T; Duma, N, Halfdanarson, T, Buckner, J.
      Abstract: Neuroendocrine neoplasms (NENs) are malignancies with rare reports of central nervous system development. A 34-year-old woman was found to have a primary NEN of the brain, and she had recurrence with identical histology 10 years later. Extracranial NENs were excluded. She had routine surveillance for the first 5 years with MRIs and positron emission tomography/CTs after the initial presentation which was treated with radiation followed by cisplatin and etoposide. This case highlights the difference in primary NENs versus NEN metastases to the brain, and that longer periods of surveillance are likely required for primary NENs. This is important because the prognosis between primary NENs and metastatic NENs to the brain are vastly different and should not be treated as equal diseases. The patient eventually died of her recurrence secondary to complications of a ventriculoperitoneal shunt placed for treatment of hydrocephalus from the disease.
      Keywords: Oncology, Open access, Rare disease, Neurology, Neuroendocrinology, Neurooncology, CNS cancer
      PubDate: 2019-09-18T22:49:23-07:00
      DOI: 10.1136/bcr-2019-230582
      Issue No: Vol. 12, No. 9 (2019)
       
  • Symptomatic attachment of appendix vermiformis following a plug inguinal
           hernia repair
    • Authors: Zwaans, W. A; Scheltinga, M. R, Roumen, R. M.
      Abstract: We describe a case of attachment of an appendix vermiformis following an inguinal hernia plug repair according to Rutkow and Robbins. A 62-year-old man presented at our outpatient clinic with a progressive sensation of tightness in the right groin area, painful urge of miction and long-lasting nausea with abdominal discomfort. During an open groin exploration, the appendix was found attached to an intraperitoneally located plug. The appendix and plug were removed with an uneventful recovery. During follow-up, the patient was free of groin pain and miction had normalised. Surprisingly, his long-lasting nausea and abdominal discomfort had disappeared as well.
      Keywords: Anaesthesia, Surgery, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Pain (anaesthesia), General surgery
      PubDate: 2019-09-17T22:34:11-07:00
      DOI: 10.1136/bcr-2017-220408
      Issue No: Vol. 12, No. 9 (2019)
       
  • Challenges in diagnosing ectopic thymus tissue in children
    • Authors: Claes, L; Dendooven, A, van Heerden, J.
      Abstract: The presentation of a fast-growing cervical mass necessitates prompt attention due to risk of the mass effect on vital structures and requires preferential screening for infections, bleeding and malignancies in an extensive list of differential diagnoses. This case report describes a 4.5-year-old boy with a fast-growing, unilateral lesion in the neck, with clinical features in keeping with malignant characteristics. Surgical excision with pathocytological examination revealed an exceptional diagnosis of haemorrhage in an ectopic cervical thymic cyst. Thymic cysts are a rare cause of unilateral masses in the neck, usually presenting as an asymptomatic, painless, slow-growing or stable mass anywhere along the thymopharyngeal duct. Spontaneous haemorrhages in thymic tissue can occur, often due to coagulation defects. Treatment of symptomatic thymic cysts is based on surgical excision. Partial resection of the thymus should be encouraged if possible, since clinical consequences of removing all thymic tissue in children are still unclear.
      Keywords: Oncology, Paediatrics, Rare disease, Immunology (including allergy), Paediatric oncology, Congenital disorders
      PubDate: 2019-09-17T22:34:11-07:00
      DOI: 10.1136/bcr-2018-228807
      Issue No: Vol. 12, No. 9 (2019)
       
  • Rare case of pacemaker infection with Mycobacterium abscessus
    • Authors: Radigan, A; Jevert-Eichorn, S.
      Abstract: Though prevalent in the environment, nontuberculous mycobacteria (NTM) have been increasingly identified as pathogenic. Sporadic reports of NTM infection of cardiac implantable electronic devices (CIEDs) have appeared but remain rare. This case describes a CIED infection with Mycobacterium abscessus, the third reported case in the literature. A 63-year-old male presented with a 3-day history of drainage from his pacemaker extraction site. An aspirate grew Mycobacterium abscessus. Together with National Jewish Health, a treatment plan was developed, consisting of an induction phase with amikacin, cefoxitin and clarithromycin followed by a maintenance phase with clarithromycin and clofazimine. The clinical course was complicated by cardiac arrhythmia, abscess formation and thoracic osteomyelitis with epidural abscess. This case highlights a rare manifestation of Mycobacterium abscessus disease and suggests the need for further study. Treatment is complicated by unpredictable resistance patterns, complex antimicrobial regimens and the use of arrhythmogenic medications in patients with removed CIEDs.
      Keywords: Cardiovascular medicine, Infectious diseases, Medical management, Rare disease, Drugs: infectious diseases, Pacing and electrophysiology
      PubDate: 2019-09-17T22:34:11-07:00
      DOI: 10.1136/bcr-2019-230100
      Issue No: Vol. 12, No. 9 (2019)
       
  • Combination of high-resolution cone beam computed tomography and metal
           artefact reduction software: a new image fusion technique for evaluating
           intracranial stent apposition after aneurysm treatment
    • Authors: Yuki, I; Ishibashi, T, Dahmani, C, Kato, N, Ikemura, A, Abe, Y, Otani, K, Kodama, T, Kan, I, Nishimura, K, Murayama, Y.
      Abstract: We introduce a new imaging technique to improve visualisation of stent apposition after endovascular treatment of brain aneurysms employing high-resolution cone beam CT and three-dimensional digital subtraction angiography. After performing a stent-assisted coil embolisation of brain aneurysm, the image datasets were processed with a metal artefact reduction software followed by the automated image fusion programmes. Two patients who underwent aneurysm coiling using a Neuroform stent were evaluated. The reconstructed 3D images showed a detailed structure of the stent struts and identified malappositions of the deployed stents. Case 1 showed good apposition on the outer curvature side of the carotid siphon, while the inner curvature side showed prominent malapposition. Case 2, with multiple aneurysms, showed good apposition on both outer and inner curvature sides, although inward prolapse of the struts was observed. This new imaging technique may help evaluate stent apposition after the endovascular aneurysm treatment.
      Keywords: Open access, Novel diagnostic procedure
      PubDate: 2019-09-17T22:34:11-07:00
      DOI: 10.1136/bcr-2019-230687
      Issue No: Vol. 12, No. 9 (2019)
       
  • Primary osteosarcoma of the skull in teenager
    • Authors: Vasquez, L; Tejada, V, Maza, I, Mendoza, R.
      Abstract: Osteosarcoma of the skull is a rare primary malignant bone tumour in children, representing 1–2% of all cranial tumours. We describe a case of a 17-year-old adolescent with chondroblastic osteosarcoma of the parietal-occipital bone and no distant metastases at presentation treated with neoadjuvant chemotherapy, surgery and, later, concurrent chemoradiotherapy. The patient suffered progressive disease and died 15 months after diagnosis. There are at least 15 paediatric cases of osteosarcoma of the skull described in the literature. Due to its rarity, there are no broad prospective studies on this entity, which has distinctive features when compared to other craniofacial tumours, carrying a worse prognosis. Complete surgical resection is needed for long-term survival, whereas chemotherapy and radiotherapy have still questionable indications.
      Keywords: Oncology, Rare disease, Chemotherapy, Paediatric oncology
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-229585
      Issue No: Vol. 12, No. 9 (2019)
       
  • Vancomycin induced DRESS syndrome (drug reaction with eosinophilia and
           systemic symptoms) in a patient with tricuspid endocarditis
    • Authors: Hewitson; L. J.
      Abstract: A 57-year-old man presented for an elective pacemaker upgrade, complicated by the discovery of device infection. He had a background of complex congenital heart disease, including replacement of heart valves, and was treated for presumed infective endocarditis that was later confirmed by echocardiography. Antibiotic treatment, with intravenous vancomycin, was given as per the tissue sample sensitivities. On day 24 of treatment he deteriorated clinically, with the evolution of recurrent fever, epigastric pain, diarrhoea, widespread pruritic rash, lymphadenopathy and severe hypoxia over the subsequent 7–10 days. Blood tests revealed development of a marked eosinophilia, transaminitis and rising inflammatory markers. Further radiological imaging was non-diagnostic. On the basis of these clinical and biochemical features a diagnosis of drug reaction with eosinophilia and systemic symptoms syndrome was made. This led to the cessation of vancomycin, the offending agent and the referral for specialist immunology advice. He was subsequently treated with oral prednisolone and made a full recovery.
      Keywords: Cardiovascular medicine, Infections, Rare disease, Drugs and medicines, Pharmacology and therapeutics, Immunology (including allergy), Valvar diseases, Unwanted effects / adverse reactions
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-229590
      Issue No: Vol. 12, No. 9 (2019)
       
  • Incidental endobronchial hamartoma in a patient with enchondroma
    • Authors: Kadamkulam Syriac, A; Bhaskarla, A. V, Elrifai, M, Alraiyes, A. H.
      Abstract: Hamartomas are the most common type of benign tumours of the lung, constituting a small portion of all lung neoplasms. Hamartomas are rare benign tumours composed of multiple mesenchymal cell lines. Two clinical types have been defined according to the location: intraparenchymal and endobronchial, more frequently the former. We present a case of endobronchial hamartoma causing significant blockage of the right middle lobe. The finding was incidental on a CT scan of the chest done for staging purposes for a large mixed lytic and sclerotic lesion that was found within the proximal-mid portion of the tibial diaphysis. The endobronchial lesion was removed by hot electrocautery snare during bronchoscopy and identified as a hamartoma. Argon plasma coagulation was applied to the lesion’s base afterwards and the patient was to follow-up in 3 months for a repeat CT scan.
      Keywords: Oncology, Bronchopulmonary dysplasia, Rare disease, Lung cancer (oncology), Respiratory cancer, Respiratory medicine
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-229670
      Issue No: Vol. 12, No. 9 (2019)
       
  • A silent compartment syndrome following elective minimally invasive mitral
           valve repair
    • Authors: Godavitarne, C; Phadnis, J, Ahmed, I.
      Abstract: A 63-year-old male with severe mitral valve regurgitation underwent an elective minimally invasive mitral valve repair. Peripheral cannulation of the right femoral vein and artery was performed with a total cardiopulmonary bypass time of 268 min. There were no intraoperative complications. 12 hours postoperatively the patient reported mild pain in the right lower leg with a subjective decrease in sensation. Compartmental pressures were significantly raised. The patient underwent lower leg fasciotomies, which revealed bulging compartments confirming the diagnosis of an evolving compartment syndrome (CS). This rare case demonstrates the highly variable aetiology, pathophysiology and presenting symptoms of CS. Clinicians in any specialty should consider this diagnosis if there is a possibility of local vascular compromise secondary to an intervention/treatment. This diagnosis is not exclusive to patients with trauma and as such clinicians should have a high index of suspicion for this potentially devastating condition.
      Keywords: Musculoskeletal and joint disorders, Surgery, Unusual presentation of more common disease/injury, Drugs and medicines, Cardiothoracic surgery, Orthopaedic and trauma surgery
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-229692
      Issue No: Vol. 12, No. 9 (2019)
       
  • Cardiac sarcoidosis in a patient with testicular seminoma
    • Authors: Bhatti, P; Waight, M, Bromage, D, Sado, D.
      Abstract: Sarcoidosis is a multisystem disorder characterised by non-caseating granulomas that typically affect the lungs, skin and lymph nodes. Sarcoidosis has been associated with various cancers, and we describe the case of a patient with systemic sarcoidosis associated with testicular seminoma. This was originally diagnosed as stable sarcoid-like reaction. He subsequently presented with ventricular tachycardia. Cardiovascular MRI suggested cardiac sarcoidosis, which was confirmed by myocardial biopsy. This case highlights the association between some types of cancer and sarcoidosis. In addition, it highlights the importance of close follow-up for patients with a history of malignancy to monitor for sarcoid-like reactions and sarcoidosis, which are often difficult to differentiate clinically.
      Keywords: Cardiovascular medicine, Oncology, Unusual association of diseases/symptoms, Immunology (including allergy), Pathology
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-229912
      Issue No: Vol. 12, No. 9 (2019)
       
  • Glycogen storage disease type IV: dilated cardiomyopathy as the isolated
           initial presentation in an adult patient
    • Authors: Ndugga-Kabuye, M. K; Maleszewski, J, Chanprasert, S, Smith, K. D.
      Abstract: Glycogen storage disease type IV (GSD IV, Andersen disease) is a rare autosomal recessive condition. The childhood neuromuscular subtype of GSD IV is characterised by a progressive skeletal myopathy with cardiomyopathy also reported in some individuals. We report a case of a 19-year-old man who presented with severe non-ischaemic dilated cardiomyopathy (NIDCM) necessitating heart transplantation, with biopsy showing aggregations of polyglucosan bodies in cardiac myocytes. He had no signs or symptoms of muscle weakness, liver dysfunction or neurologic involvement. A homozygous GBE1 c.607C>A (p.His203Asn) variant was identified. Our case is unusual in that our patient presented with an isolated NIDCM in the absence of other clinical manifestations of GSD IV. This case highlights the importance of considering storage disorders in young adults presenting with isolated NIDCM of unknown aetiology. It also emphasises the potential synergy between histopathological evaluation and genomic testing in enhancing diagnostic certainty.
      Keywords: Cardiovascular medicine, Rare disease, Genetics, Genetic screening / counselling, Heart failure, Pathology
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-230068
      Issue No: Vol. 12, No. 9 (2019)
       
  • Simple hepatic cyst rupture exacerbated by anticoagulation
    • Authors: Tong, K. S; Hassan, R, Gan, J, Warsi, A.
      Abstract: Simple hepatic cysts are usually asymptomatic but can rarely result in life-threatening complications such as haemoperitoneum secondary to rupture. A 70-year-old woman with known simple hepatic cyst presented with acute chest pain and dyspnoea. The initial diagnosis was pulmonary embolism, and anticoagulation was commenced. However, she subsequently collapsed with haemodynamic instability. CT revealed a large hepatic cyst haematoma with rupture into the peritoneal cavity. The patient underwent emergency laparotomy, haemostasis and partial deroofing of the cyst. Retrospective review of CT scans suggested that the bleed had begun on presentation but was exacerbated by anticoagulation. To our knowledge, this is the first report of haemorrhagic hepatic cyst associated with acute anticoagulation. We discuss several important clinical lessons including cyst rupture as a possible cause of chest pain, the need for careful review of imaging and the choice of anticoagulation in patients with known simple hepatic cyst.
      Keywords: Haematology (drugs and medicines), Surgery, Reminder of important clinical lesson, Drugs and medicines, Gastrointestinal surgery
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-230243
      Issue No: Vol. 12, No. 9 (2019)
       
  • Acquired factor X deficiency in a patient with multiple myeloma: a rare
           case highlighting the significance of comprehensive evaluation and the
           need for antimyeloma therapy for bleeding diathesis
    • Authors: Reynolds, S. B; Maghavani, D. P, Hashmi, H.
      Abstract: Factor X deficiency is a rare bleeding disorder that can be associated with life-threatening bleeding events. Factor X deficiency can either be inherited or acquired. Acquired cases of factor X deficiency can be seen in patients with plasma cell dyscrasias as well as amyloidosis. Coagulopathy, with clinically relevant bleeding events, although rare, is not an unusual phenomenon for patients with systemic amyloidosis. However, clinically relevant bleeding in patients with symptomatic multiple myeloma, without associated amyloidosis, has not been reported in literature before. We present a rare case of multiple myeloma without concomitant amyloidosis that presented with life-threatening bleeding from acquired deficiency of factor X and responded remarkably to treatment for underlying multiple myeloma. This case not only highlights the diagnostic workup required in patients with factor X deficiency but also provides the principles of management of acquired coagulopathy in plasma cell dyscrasias.
      Keywords: Oncology, Rare disease, Haematology (incl blood transfusion), Chemotherapy
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-230249
      Issue No: Vol. 12, No. 9 (2019)
       
  • Dural carotid cavernous fistula following hypertensive emergency
    • Authors: Law, G; Docherty, G.
      Abstract: A 58-year-old woman was referred to the outpatient ophthalmology clinic with progressive bilateral eye redness and vision loss. She had presented 2 weeks earlier with an episode of hypertensive emergency. CT angiography revealed bilateral superior ophthalmic vein (SOV) dilation, prompting further workup with a cerebral angiogram. Subsequent imaging revealed an indirect (type D) carotid-cavernous fistula (CCF) with venous drainage into both SOVs and cavernous sinuses. Successful treatment of the CCF with coil embolisation required interdisciplinary teamwork between ophthalmologists and interventional neuroradiologists. The patient made a substantial visual recovery following treatment.
      Keywords: Anterior chamber, Rare disease, Ophthalmology
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-230823
      Issue No: Vol. 12, No. 9 (2019)
       
  • Failed knee replacement: incorrect indication'
    • Authors: Ampat, G; Tixerant, E.
      Abstract: A 52-year-old woman sustained a direct soft tissue injury to the right knee following a fall onto the right knee. X-rays did not identify any bony injury. Physiotherapy decreased pain but instability persisted. MRI scans identified early degeneration. An orthopaedic opinion recommended total knee replacement. Following a total knee replacement, the pain has worsened and she remains functionally impaired 2 years following the surgical intervention. Knee replacements are commonly performed successful surgical interventions. The increased numbers of replacements might be due to the lowered threshold in recommending surgical intervention by health professionals. This may increase the failure rate. It also raises the question whether adequate non-operative measures were attempted'
      Keywords: Learning from errors, Orthopaedics, Rheumatology, Osteoarthritis, Ethics
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-230829
      Issue No: Vol. 12, No. 9 (2019)
       
  • Catastrophic antiphospholipid syndrome in pregnancy: a life-threatening
           condition
    • Authors: Collict, M; Sciberras Buhagiar, W, Mercieca, C, Thake, J.
      Abstract: Catastrophic antiphospholipid syndrome (CAPS) is a rare and potentially life-threatening variant of the antiphospholipid syndrome which is characterised by multiple small vessel thrombosis which can lead to multiorgan failure. CAPS is a clinical emergency which all clinicians need to be aware of because early diagnosis and treatment may improve maternal and fetal outcome. Here, we report a case of CAPS in pregnancy in a 31-year-old female patient who presented at 28 weeks of gestation. A literature review of CAPS in pregnancy and the puerperium is also included.
      Keywords: Obstetrics and gynaecology, Rare disease, Drugs and medicines, Pregnancy, Rheumatology
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-230863
      Issue No: Vol. 12, No. 9 (2019)
       
  • High-grade chondrosarcoma of the larynx: treatment and management
    • Authors: Galletti, B; Costanzo, D, Gazia, F, Galletti, F.
      Abstract: We present a case of an 88-year-old man with high-grade chondrosarcoma of the larynx. The patient presents with a history worsening dysphonia and dyspnoea treated with antibiotic and corticosteroid therapy as it was a bronchopneumonia. Thanks to fibrolaryngoscopy, radiological imaging and final biopsy with immunohistochemistry, we have done differential diagnosis with the others sarcomas of the larynx. The histological diagnosis and the correct grading are essential for treatment and management of the pathology. The best treatment is primary surgical resection with negative margins. Chemoradiotherapy may provide some benefit if there are margin positive resections or with palliative intent. In our case, we performed only surgery treatment and a close follow-up at 1-3-6 months and after every 6 months. After 18 months from surgery, there are no signs of recurrence of disease.
      Keywords: Oncology, Rare disease, Head and neck cancer, Pathology, Ear, nose and throat/otolaryngology
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-230918
      Issue No: Vol. 12, No. 9 (2019)
       
  • Synchronous retroperitoneal Castlemans disease with clear cell renal cell
           carcinoma
    • Authors: Vishwajeet, V; Kakkar, N, Singhal, P, Mandal, A. K.
      Abstract: Castleman’s disease is a rare non-clonal lymphoproliferative disorder and known to be associated with a number of disorders such as polyneuropathy, organomegaly, endocrinopathy, monoclonal protein and skin changes syndrome, Kaposi sarcoma, paraneoplastic pemphigus and plasma cell dyscrasias. The association of Castleman’s disease with epithelial malignancy is not clear and limited to few case reports. We describe a case of synchronous Castleman’s disease with renal cell carcinoma in a 53-year-old woman. She presented with right abdominal lump with feeling of heaviness. She also presented with vague discomfort in left hypochondrium for 15 years. The CT imaging of abdomen revealed two masses—one in right kidney and another in left anterior pararenal space of retroperitoneum. The patient underwent right radical nephrectomy with excision of left retroperitoneal mass. Histological examination revealed clear cell renal cell carcinoma and Castleman’s disease, respectively. Role of interleukin-6 has been postulated as an important factor in association of Castleman’s disease and epithelial malignancy.
      Keywords: Oncology, Unusual association of diseases/symptoms, Urological cancer, Pathology
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-230919
      Issue No: Vol. 12, No. 9 (2019)
       
  • Leptomeningeal involvement by prostate carcinoma an ominous head of a
           well-known Hydra
    • Authors: Tawadros, F; Manthri, S, Zayko, M, Chakraborty, K.
      Abstract: A 67-year-old male patient presents to the hospital complaining of severe nausea and vomiting failing oral antiemetics. He carries the history of initial diagnosis of stage III prostate cancer. He underwent radical prostatectomy followed by external beam radiation. After 5 years of initial excellent control with androgen deprivation therapy (ADT), imaging study showed retroperitoneal adenopathy denoting ADT failure. His prostate-specific antigen continued to rise while on enzalutamide and then abiraterone reflecting disease progression. He maintained excellent functional capacity through 23 cycles of docetaxel however he started developing hip pain after the last cycle with imaging studies suggesting new hip metastatic disease. Following the first cycle of radium-223, the patient presented with intractable nausea and vomiting. MRI showed a high suspicion of leptomeningeal spread which was confirmed through a meningeal biopsy after lumbar puncture showed negative results. The patient had excellent symptomatic response to high-dose dexamethasone. After receiving whole-brain radiation, the patient opted to be on best supportive care and succumbed to his illness 3 months later.
      Keywords: Oncology, Urology, Unusual association of diseases/symptoms
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-230922
      Issue No: Vol. 12, No. 9 (2019)
       
  • Encorafenib and binimetinib for the treatment of BRAF-mutated metastatic
           melanoma in the setting of combined hepatic and renal impairment
    • Authors: Ngo, P; Bycroft, R.
      Abstract: Inhibitors of BRAF, a gene coding a protein called B-raf, with or without inhibitors of MEK (MAPK/extracellular signal-regulated kinase) are often used as palliative treatment in BRAF-mutated metastatic melanoma. Recent data show improved progression-free survival with encorafenib with binimetinib, a newer BRAF/MEK inhibitor combination, compared with older agents, but there have been no reports of this treatment in the setting of renal and liver failure. We report a patient with disease-induced transaminitis and renal failure requiring dialysis who was successfully treated with encorafenib and binimetinib. His transaminitis improved and he was able to stop dialysis without any significant adverse effects during treatment, suggesting encorafenib with binimetinib may be used safely and effectively even in patients with end organ damage.
      Keywords: Oncology, Novel treatment (new drug/intervention; established drug/procedure in new situation), Pharmacology and therapeutics, Skin cancer, Chemotherapy
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-230974
      Issue No: Vol. 12, No. 9 (2019)
       
  • Non-islet cell tumour hypoglycaemia in a patient with a
           well-differentiated gastric neuroendocrine tumour
    • Authors: Versluis, J; Valk, G, van Rossum, H, Tesselaar, M.
      Abstract: A 61-year-old man, without noteworthy medical history, presented with complaints of progressive fatigue and flushes. Diagnostic imaging revealed a large tumour in the stomach with liver metastases, and histopathological examination showed a well-differentiated gastric neuroendocrine tumour (NET). After chemotherapy, everolimus was administered, and upon progression, PD-1 inhibitor PDR001 was started. Two weeks after the first gift, he was admitted with loss of consciousness and a blood glucose level of 1.6 mmol/L. Plasma insulin was below 0.5 mU/L, C-peptide level was 250 pmol/L, insulin-like growth factor (IGF)-II was 804 ng/mL, and pro-IGF-IIE level was 80 µg/L. Based on the clinical findings, the patient was diagnosed with non-islet cell tumour hypoglycaemia (NICTH) with an overproduction of pro-IGF-IIE and eventually IGF-II due to progressive metastatic well-differentiated gastric NET. NICTH is a very rare condition. It has been reported in several tumour types but has never been described as a consequence of NET.
      Keywords: Endocrinology, Oncology, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Endocrine cancer, Metabolic disorders
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-231069
      Issue No: Vol. 12, No. 9 (2019)
       
  • Autoimmune encephalitis: the clinical evolution as a key to the diagnosis
    • Authors: Teixeira, S; Caldeira Santos, J, Vila Real, M, Santos, F.
      Abstract: Anti-N-methyl D-aspartate receptor (NMDAR) encephalitis is a devastating disease, that despite being increasingly diagnosed, there are no consensus guidelines for the optimal management. A previously healthy 3-year-old-boy brought to the emergency department due to seizures. Neurological examination was normal, and electroencephalogram (EEG) suggested focal epilepsy. Anticonvulsive medication was initiated. He progressively lost age-appropriate language skills, presented behavioural changes and psychiatric symptoms. Neurological examination at that time revealed symmetric gross motor weakness of the lower limbs. Brain and spinal cord MRI and cerebrospinal fluid were normal. Repeated EEG showed global lentification. Steroid therapy was initiated for the suspicion of autoimmune encephalitis, later confirmed as NMDAR encephalitis. He became clinically improved after 10 days of treatment but only returned to his baseline after 3 months of disease onset. The authors emphasised the variable course of the disease and possible late response to treatment.
      Keywords: Paediatrics, Reminder of important clinical lesson, Neurology, Epilepsy and seizures, Child and adolescent psychiatry (paedatrics)
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-231094
      Issue No: Vol. 12, No. 9 (2019)
       
  • A catastrophic antiphospholipid syndrome complicated with heparin-induced
           thrombocytopaenia, successfully managed with double filtration
           plasmapheresis, steroids and a direct thrombin inhibitor
    • Authors: Prouvot, J; Aglae, C, Daniel, L, Moranne, O.
      Abstract: A middle-aged woman with history of antiphospholipid syndrome, admitted to our hospital for lethargy and persistent chest pain, developed during hospitalisation intracerebral transverse sinus and sigmoid vein thromboses, retinal thromboses, acute renal failure and cardiac involvement associated with thrombocytopaenia. Diagnosis of catastrophic antiphospholipid syndrome was made and treated with IV steroids, heparin infusion and double filtration plasmapheresis (DFPP) without fresh frozen plasma. Heparin-induced thrombocytopaenia was second diagnosed because of persistent severe thrombocytopaenia after 2 weeks of treatment associated with positive conversion of antibodies against platelet factor 4, and a positive functional assay. The clinical course was complicated by cerebellar haematomas that appeared a few days after the last session of DFPP. Heparin-induced thrombocytopaenia was managed by administration of argatroban, a direct thrombin inhibitor with an increase in platelet count. Neurologically, the patient recovered completely and was discharged on vitamin K antagonist treatment and regular dialysis.
      Keywords: Cardiovascular medicine, Unusual association of diseases/symptoms, Haematology (incl blood transfusion), Immunology (including allergy), Venous thromboembolism, Renal medicine, Acute renal failure
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-231161
      Issue No: Vol. 12, No. 9 (2019)
       
  • Left atrial myxoma: an unusual cause of postpartum tachycardia and
           shortness of breath
    • Authors: Nazir, T; Ahmed, S, Ahmed, I. M.
      Abstract: Primary cardiac tumours are exceedingly rare in clinical practice and a myxoma is certainly not the first suspected diagnosis on a list of differentials in a patient presenting with breathlessness and tachycardia. Naturally, a structured work-up to rule out much more common conditions will take place. Nonetheless, an index of clinical suspicion is required especially when a clear-cut diagnosis is not forthcoming. We describe a case of a postpartum woman who presented with shortness of breath and palpitations, and was eventually diagnosed with a left atrial tumour. She underwent a successful surgical excision of the mass which was found to be a myxoma on histological examination. We review and present an up-to-date literature review on epidemiology, pathophysiology, clinical features, diagnosis and treatment options for cardiac myxomas.
      Keywords: Cardiovascular medicine, Obstetrics and gynaecology, Rare disease, Heart failure, Pregnancy, Valvar diseases
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-231283
      Issue No: Vol. 12, No. 9 (2019)
       
  • Diet-induced oxalate nephropathy
    • Authors: Clark, B; Baqdunes, M. W, Kunkel, G. M.
      Abstract: Oxalate nephropathy is a rare condition and may be overlooked due to lack of recognition and understanding of triggers. An 81-year-old man was sent to nephrologist because of significantly increased creatinine (1.5–1.9 mg/dL) noted for 3 months. He had well-controlled diabetes but no history of kidney disease. He had no chronic diarrhoea or intestinal surgery. He was a health-minded individual who had read extensively about benefit of antioxidants. Initial work-up was unrevealing. Within a few weeks after first visit, he developed acute symptomatic worsening kidney injury with nausea, vomiting and creatinine up to 6.8 mg/dL. Repeat examination of the urine sediment revealed casts containing calcium oxalate crystals. A deeper dietary history revealed widespread oxalate precursor consumption. A kidney biopsy confirmed oxalate nephropathy. Restriction of oxalate consumption combined with adequate hydration, oral calcium acetate resulted in partial renal recovery without need for haemodialysis.
      Keywords: Urinary and genital tract disorders, Nutrition, Renal system, Open access, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Drugs and medicines, Renal medicine, Acute renal failure
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-231284
      Issue No: Vol. 12, No. 9 (2019)
       
  • Rupture along with fibrin clot occluding the middle port of the triple
           lumen catheter: an uncommon complication of central venous catheterisation
           
    • Authors: Burman, S; Kumar, N, Goyal, K, Bindra, A.
      Abstract: Central venous catheter (CVC) insertion is a commonly done procedure but associated with some potential complications. In our case, intraoperatively we placed a CVC into the right subclavian vein of the patient for a neurosurgical procedure. Subsequently, in the neurosurgical intensive care unit, on checking the patency of the CVC, only the distal and proximal lumens were working and no backflow of blood was detected from the middle port. A chest X-ray and ultrasound were done immediately, which did not reveal why the middle port was blocked. Later CVC was removed, and on examination of the catheter, we noted an intraluminal fibrin clot and a partial tear near the opening of the middle port. This is an uncommon complication of a CVC insertion that is catheter tear along with fibrin clot occluding the middle port of the CVC, which was detected in time and managed successfully.
      Keywords: Anaesthesia, Intensive care, Reminder of important clinical lesson, Neurology, Neuroanaesthesia, Adult intensive care
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-231290
      Issue No: Vol. 12, No. 9 (2019)
       
  • Split thickness skin graft in active psoriasis in patient with clear cell
           variant squamous cell carcinoma
    • Authors: Scupham, L; Ingle, A.
      Abstract: The case report discusses split thickness skin grafting in a patient with active psoriasis. This also reports a case of a rare variant of squamous cell carcinoma.
      Keywords: Surgery, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Immunology (including allergy), Dermatology, Plastic and reconstructive surgery
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-231295
      Issue No: Vol. 12, No. 9 (2019)
       
  • Chronic thrombotic microangiopathy secondary to antiphospholipid syndrome,
           presenting with severe hypertension and chronic renal impairment
    • Authors: Yee, Y; Angkodjojo, S, Tan, P. H.
      Abstract: A 42-year-old woman was referred from a primary care centre for severe hypertension, stage 3A chronic kidney disease and proteinuria. This was associated with a significant obstetric history of pre-eclampsia during her previous two pregnancies. Secondary hypertension was suspected and autoimmune workup was positive for anticardiolipin IgG and lupus anticoagulant. A renal biopsy showed evidence of chronic thrombotic microangiopathy, with electron microscopy features suggestive of fibrillar glomerulonephritis. The diagnosis of antiphospholipid syndrome with antiphospholipid-associated nephropathy was made. She was started on anticoagulation with warfarin, and her hypertension was controlled with lisinopril and amlodipine with subsequent improvement in proteinuria. She remains on regular follow-up to monitor for possible development of malignancy or connective tissue disease.
      Keywords: Reminder of important clinical lesson, General practice / family medicine, Renal medicine, Chronic renal failure, Rheumatology, Connective tissue disease
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-231434
      Issue No: Vol. 12, No. 9 (2019)
       
  • Rare atypical presentation of phacolytic glaucoma as non-resolving
           microbial keratitis with endophthalmitis
    • Authors: Agarwal, R; Tripathi, M, Patil, A, Sharma, N.
      Abstract: Phacolytic glaucoma (PLG) is a rare complication of hypermature senile cataract. Delayed presentation of PLG may make its diagnosis and management difficult and worsen its prognosis. A woman aged 75 years complaining of sleep disturbing pain and inaccurate projection of rays oculus dextrus (OD) was referred to our centre for management of non-resolving microbial keratitis with endophthalmitis. Ultrasound biomicroscopy revealed 360° peripheral anterior synechiae, swollen crystalline lens and hyperechoic granules filling anterior chamber. A diagnosis of PLG and lens-induced uveitis was made and cataract was extracted after control of intraocular pressure (IOP). The patient was left aphakic. There was complete resolution of pain after surgery and at 3 months follow-up the IOP was controlled without any antiglaucoma medications. Rarely, secondary corneal opacification from long-standing pathological changes in PLG may mimic non-resolving microbial keratitis with endophthalmitis and requires a high index of suspicion for appropriate diagnosis and management.
      Keywords: Anterior chamber, Unusual presentation of more common disease/injury, Ophthalmology, Glaucoma
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-231616
      Issue No: Vol. 12, No. 9 (2019)
       
  • Central neurocytoma in the posterior fossa
    • Authors: Rai, P; Nayak, R, Anand, D, Menon, G.
      Keywords: Surgery, Images in..., Neurology, Brain stem / cerebellum, Neuroimaging, Neurosurgery
      PubDate: 2019-09-16T12:46:43-07:00
      DOI: 10.1136/bcr-2019-231626
      Issue No: Vol. 12, No. 9 (2019)
       
  • Rare case of triple mutant (KRAS + NRAS + BRAF) metastatic colon
           adenocarcinoma
    • Authors: Vittal, A; Sharma, D, Samanta, I, Kasi, A.
      Abstract: KRAS is detected in 30%–50% of colorectal cancer (CRC) and BRAF mutations are found in 10% of CRC. A 62-year-old man with the long-standing smoking history presented to the emergency department with abdominal pain, weight loss and constipation. CT scan of abdomen/pelvis showed obstructive mass which was found to be colon adenocarcinoma which on further molecular analysis tested positive for KRAS, NRAS and BRAF mutations. His tumour progressed despite chemotherapy and surgery and he died within a year of diagnosis. Concomitant KRAS, NRAS and BRAF mutations are rare enough to be considered mutually exclusive but coexistent mutations appear to be a distinct molecular and clinical subset which needs new and effective treatment strategies in a setting of dismal prognosis.
      Keywords: Oncology, Rare disease, Colon cancer, Carcinogenesis, Chemotherapy
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2017-221816
      Issue No: Vol. 12, No. 9 (2019)
       
  • Hypocalcemic cardiomyopathy: a rare presenting manifestation of
           hypoparathyroidism
    • Authors: Saini, N; Mishra, S, Banerjee, S, Rajput, R.
      Abstract: Hypoparathyroidism patients present with features of hypocalcemia like carpopedal spasm, numbness and paresthesias but hypocalcemic cardiomyopathy leading to congestive heart failure (CHF) is a rare presentation. We present here a case of 55-year-old Asian man who was a known case of dilated cardiomyopathy for 6 months, presented with the chief complaints of shortness of breath on exertion and decreased urine output. On general physical examination, features suggestive of CHF were seen. Chvostek and Trousseau’s sign was positive. The patient had a history of cataract surgery of both eyes 15 years ago. Further investigations revealed hypocalcemia. Echo showed severe global hypokinesia of left ventricle with left ventricle ejection fraction 15%. This CHF was refractory to conventional treatment, though, with calcium supplementation, the patient improved symptomatically. On follow-up after 3 months, an improvement was seen in the echocardiographic parameters with ejection fraction improving to 25%.
      Keywords: Cardiovascular medicine, Endocrine system, Endocrinology, Unusual presentation of more common disease/injury, Drugs and medicines, Heart failure, Calcium and bone
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-229822
      Issue No: Vol. 12, No. 9 (2019)
       
  • Unusual case of Juvenile Tay-Sachs disease
    • Authors: Cheema, H. A; Waheed, N, Saeed, A.
      Abstract: Tay-Sachs disease (TSD) is a type 1 gangliosidosis (GM2) and caused by hexosaminidase A deficiency resulting in abnormal sphingolipid metabolism and deposition of precursors in different organs. It is a progressive neurodegenerative disorder transmitted in an autosomal-recessive manner. There is an accumulation of GM2 in neurocytes and retinal ganglions which result in progressive loss of neurological function and formation of the cherry-red spot which is the hallmark of TSD. We report the first case of juvenile TSD from Pakistan in a child with death of an older sibling without the diagnosis.
      Keywords: Endocrinology, Paediatrics, Rare disease, Genetics, Metabolic disorders
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-230140
      Issue No: Vol. 12, No. 9 (2019)
       
  • Acute reversible left ventricular systolic dysfunction associated with
           5-fluorouracil therapy: a rare and increasingly recognised cardiotoxicity
           of a commonly used drug
    • Authors: Mishra, T; Shokr, M, Ahmed, A, Afonso, L.
      Abstract: 5-Fluorouracil (5-FU) is the third most common chemotherapeutic agent for treating solid cancers and the second most common to cause cardiotoxicity. We present a rare case of acute reversible severe left ventricular systolic dysfunction associated with 5-FU. A 54-year-old woman with a history of stage IV gastric cancer presented with features of transient ischaemic attack after receiving the first dose of FLOT (5-FU, leucovorin, oxaliplatin and docetaxel). During the diagnostic workup, it was found that her ejection fraction was severely reduced to 15% with features of global hypokinesis, which later improved back to 65% within 13 days. These cases challenge our current understanding of the underlying mechanisms of this cardiotoxicity. Additionally, even though the patient did not experience any cardiac symptoms, it is important to monitor these patients closely as they are at high risk for fatal complications like arrhythmia and thrombus formation.
      Keywords: Cancer - see Oncology, Cardiovascular medicine, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Drugs: cardiovascular system, Heart failure
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-230499
      Issue No: Vol. 12, No. 9 (2019)
       
  • Myelomatous pleural effusion and extensive extraskeletal soft tissue
           involvement: a rare presentation of clonal plasma cell disorders
    • Authors: Alexander, V; Binu, A. J, Sathyendra, S.
      Abstract: A 65-year-old woman presented with a history of progressive dyspnoea, left pleuritic pain, loss of weight and appetite. Previous history was significant for pulmonary tuberculosis diagnosed 10 years before. Physical examination revealed a left supraclavicular soft tissue mass with absent breath sounds over the left hemithorax. Investigations revealed hypercalcemia with albumin:globulin reversal. The bone marrow biopsy was consistent with the diagnosis of multiple myeloma (IgG). Pleural fluid analysis revealed an exudative effusion; cytology showed mature plasma cells and plasmablasts. Serum electrophoresis revealed an M band in the gamma region. Biopsy of the supraclavicular mass revealed plasma cells which were CD 138+ with Kappa light chain restriction. She was initiated on chemotherapy and is currently doing well. Myelomatous pleural effusion is a rare presentation of multiple myeloma.
      Keywords: Respiratory system, Haematology (drugs and medicines), Unusual presentation of more common disease/injury, Drugs: cardiovascular system
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-230560
      Issue No: Vol. 12, No. 9 (2019)
       
  • Atypical haemolytic uremic syndrome secondary to acute pancreatitis: a
           unique presentation
    • Authors: Barish, J; Kopparthy, P, Fletcher, B.
      Abstract: Atypical haemolytic uraemic syndrome (aHUS) is a disease of complement dysregulation and can be fatal if not treated in a timely manner. Although normally associated with triggers such as infection or pregnancy, this case demonstrates acute pancreatitis as the triggering event. The patient’s initial presentation of thrombocytopaenia and acute renal failure was first attributed to a systemic inflammatory response syndrome due to pancreatitis, but with detailed history and further laboratory investigation, we were able to show that patient was having symptoms associated with aHUS. On early recognition of aHUS, this patient was able to receive the proper standard of care with eculizumab and had a full recovery while preventing renal failure. When patients present with thrombocytopaenia and renal failure in acute pancreatitis, we want to ensure physicians keep aHUS on the differential.
      Keywords: Gastroenterology, Pancreatitis, Unusual presentation of more common disease/injury, Haematology (incl blood transfusion)
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-230822
      Issue No: Vol. 12, No. 9 (2019)
       
  • Diagnosis of hypothenar hammer syndrome in a patient with acute ulnar
           artery occlusion
    • Authors: St-Pierre, F; Shepherd, R. F, Bartlett, M. A.
      Abstract: A 56-year-old truck driver with a history of tobacco use presented with acute onset digital ischaemia in the ulnar distribution of his dominant hand, associated with severe pain. Occupational exposures included extensive manual labour and prolonged vibratory stimuli. Workup with Doppler and angiography confirmed the diagnosis of hypothenar hammer syndrome (HHS). After the failure of medical management, he underwent ulnar artery thrombectomy with reconstruction and arterial bypass grafting. His pain improved significantly postsurgically, and he was able to return to a normal routine. This case illustrates the classic presentation, examination, imaging findings and management options of HHS. HHS should be considered in patients with digital ischaemia and associated occupational exposures. Diagnosing the condition appropriately allows for optimal management, aiming at minimising symptoms and maximising quality of life.
      Keywords: Reminder of important clinical lesson, General practice / family medicine, Haematology (incl blood transfusion), Occupational and environmental medicine
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-230963
      Issue No: Vol. 12, No. 9 (2019)
       
  • Jo1-antisynthetase syndrome and severe interstitial lung disease with
           organising pneumonia on histopathology with favourable outcome on early
           combined treatment with corticosteroids, mycophenolate mofetil and
           rituximab
    • Authors: Rüegg, C. A; Maurer, B, Laube, I, Scholtze, D.
      Abstract: Antisynthetase syndrome is a rare autoimmune disease and represents a distinct entity within the idiopathic inflammatory myopathies. Its variable systemic manifestations are composed of myositis, interstitial lung disease, non-erosive arthritis, fever, Raynaud’s phenomenon, hyperkeratotic skin changes and the presence of antibodies against aminoacyl-transfer-RNA-synthetases. Interstitial lung disease is the major determinant of morbidity and mortality. The role of lung biopsy remains controversial but it might be considered on an individual basis and may provide information regarding prognosis and treatment response. An integrated clinical, radiological and pathological approach to interstitial lung disease has to be emphasised. Due to the rarity of the disease, no standardised treatment guidelines for antisynthetase syndrome exist. We discuss a patient with anti-Jo1-autoantibody antisynthetase syndrome with proximal myositis and severe, rapid onset, interstitial lung disease with a histopathological pattern of organising pneumonia on surgical lung biopsy and good response to early combined immunosuppressive treatment with corticosteroids, mycophenolate mofetil and rituximab.
      Keywords: Rare disease, Respiratory medicine, Interstitial lung disease, Rheumatology, Biological agents, Connective tissue disease
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-231006
      Issue No: Vol. 12, No. 9 (2019)
       
  • Monocular elevation deficit after scleral perforation repair
    • Authors: Saluja, G; Bhari, A.
      Abstract: Monocular elevation deficit can result from either inferior rectus restriction, superior rectus palsy or from supranuclear causes. We report a case of monocular elevation deficit after scleral perforation repair which was managed by surgery on contra lateral eye. This improved elevation of the affected eye with no diplopia in the postoperative period.
      Keywords: Eye, Unusual presentation of more common disease/injury, Drugs and medicines, Ophthalmology
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-231361
      Issue No: Vol. 12, No. 9 (2019)
       
  • Endoscopic removal of an incidentally discovered intrauterine
           contraceptive device eroding into the rectum
    • Authors: Al Sahaf, M. A; Bseiso, B. F, Al-Momen, S. A, Meshikhes, A.-W. N.
      Abstract: Intrauterine contraceptive device (IUCD) is a common birth control method. It is safe but can be associated with serious complications including migration into the peritoneal cavity and penetration into other intra-abdominal and pelvic viscera; most commonly the rectosigmoid colon. Different retrieval methods including endoscopy, laparoscopy or open abdominal surgery have been described. We report the case of 38-year-old woman who became pregnant shortly after insertion of the IUCD 6 years prior to presentation. She delivered vaginally and ‘expulsion’ of the device was assumed. Some 4 years later, she had another IUCD inserted and remained asymptomatic till she recently presented with iron-deficiency anaemia. As part of the investigation, diagnostic colonoscopy was performed. Surprisingly, the old IUCD was found penetrating into the midrectum. Uneventful endoscopic removal was performed and she remained well at 3-month follow-up. Migrating IUCD remains asymptomatic and may be discovered accidentally during routine investigation for some other symptoms.
      Keywords: Endoscopy, Gastroenterology, Obstetrics and gynaecology, Rare disease, Contraception
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-231410
      Issue No: Vol. 12, No. 9 (2019)
       
  • Renal vein and vena caval thrombus: a rare presentation of emphysematous
           pyelonephritis
    • Authors: Jain, A; Mehra, K, Manikandan, R, Dorairajan, L. N.
      Abstract: Emphysematous pyelonephritis (EPN) can present with symptoms due to infection or sepsis. EPN presenting with renal vein and inferior vena cava (IVC) thrombus is very rare. We report a case of EPN with renal vein and IVC thrombus and its management.
      Keywords: Infectious diseases, Urology, Unusual association of diseases/symptoms, Urinary tract infections
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-231455
      Issue No: Vol. 12, No. 9 (2019)
       
  • Odd O in NMO: isolated Horner syndrome without optic neuritis in a patient
           with neuromyelitis optica
    • Authors: Flores-Alfaro, F; Castillo-Torres, S. A, Gil-Valadez, A. H, Ramirez-Gutierrez, R.
      Keywords: Images in..., Neurology, Neuroimaging, Neurological injury, Pain (neurology), Spinal cord
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-232205
      Issue No: Vol. 12, No. 9 (2019)
       
  • Skin ulceration around stoma associated with aflibercept
    • Authors: Fujiwara, S; Chida, Y.
      Keywords: Oncology, Images in..., Colon cancer, Chemotherapy
      PubDate: 2019-09-12T20:38:38-07:00
      DOI: 10.1136/bcr-2019-232278
      Issue No: Vol. 12, No. 9 (2019)
       
  • Birth asphyxia following delayed recognition and response to abnormal
           labour progress and fetal distress in a 31-year-old multiparous Malawian
           woman
    • Authors: Löwensteyn, Y. N; Housseine, N, Masina, T, Browne, J. L, Rijken, M. J.
      Abstract: Reducing neonatal mortality is one of the targets of Sustainable Development Goal 3 on good health and well-being. The highest rates of neonatal death occur in sub-Saharan Africa. Birth asphyxia is one of the major preventable causes. Early detection and timely management of abnormal labour progress and fetal compromise are critical to reduce the global burden of birth asphyxia. Labour progress, maternal and fetal well-being are assessed using the WHO partograph and intermittent fetal heart rate monitoring. However, in low-resource settings adherence to labour guidelines and timely response to arising labour complications is generally poor. Reasons for this are multifactorial and include lack of resources and skilled health care staff. This case study in a Malawian hospital illustrates how delayed recognition of abnormal labour and prolonged decision-to-delivery interval contributed to birth asphyxia, as an example of many delivery rooms in low-income country settings.
      Keywords: Obstetrics and gynaecology, Paediatrics, Healthcare improvement and patient safety, Global health, Neonatal health
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2018-227973
      Issue No: Vol. 12, No. 9 (2019)
       
  • Primary molar with chronic periapical abscess showing atypical
           presentation of simultaneous extraoral and intraoral sinus tract with
           multiple stomata
    • Authors: Bashar, A. K. M; Akter, K, Chaudhary, G. K, Rahman, A.
      Abstract: Chronic periapical abscess drains through a sinus tract either intraorally or extraorally. However, intraoral drainage is more common than extraoral in both dentitions. Nevertheless, the simultaneous presentation of extraoral and intraoral sinus tract is very rarely reported in primary dentition. This case report discussed the management of a girl aged 7 years with a chronic periapical abscess of tooth no. 85 with both non-healing extraoral and intraoral sinus tract having multiple stomata. Non-vital pulpectomy using calcium hydroxide paste intracanal dressing was performed initially until 2 weeks without remarkable healing; then antibiotic dressing consisting of a mixture of ciprofloxacin, metronidazole and clindamycin was placed as an intracanal medicament for 1 week, which shows uneventful healing of both intraoral and extraoral sinus tract. This case report clearly indicates about how history, correct diagnosis and appropriate treatment of endodontic infection associated with sinus tract can be conservatively healed with endodontic treatment alone.
      Keywords: Infections, Open access, Rare disease, Drugs and medicines, Dentistry and oral medicine
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2018-229039
      Issue No: Vol. 12, No. 9 (2019)
       
  • IgG4-related lymphadenopathy masquerading as Hodgkin lymphoma: lessons
           from a pathologists desk
    • Authors: Jinkala, S. R; Srinivas, B. H, Priyamvada, P. S, Basu, D.
      Abstract: IgG4-related disease (IgG4-RD) is a systemic fibroinflammatory disorder affecting multiple organ systems. The awareness of this disease has tremendously increased over the last decade leading to effective treatment and decreased morbidity to the patients. Histopathology plays an important role in the diagnosis of IgG4-RD, and definite histologic criteria are proposed in clinically suspected patients. We report a patient with multiple organ system involvements of the salivary gland, lymph node and kidney. IgG4-related lymphadenopathy (IgG4-RL) in this patient was misdiagnosed as nodular lymphocyte predominant Hodgkin’s lymphoma (NLPHL). Refractoriness to treatment for NLPHL and subsequent manifestations of renal involvement lead us to the correct diagnosis of this potentially treatable condition. IgG4-RL can mimic reactive proliferation as well as lymphomas. We report the clinical presentation and discuss the problems faced by pathologists in diagnosing IgG4-RL. We believe that awareness of this rare presentation will enhance the knowledge in diagnosing IgG4-RD.
      Keywords: Learning from errors, Pathology, Renal medicine, Proteinurea
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-229800
      Issue No: Vol. 12, No. 9 (2019)
       
  • Imatinib-induced pericardial effusion in a child
    • Authors: Terry, C; Avery, P, Morton, S, Aron, J.
      Abstract: A 12-year-old boy presented with central chest pain, shortness of breath and type 1 respiratory failure. He had a background of graft versus host disease (GvHD), which was currently managed with imatinib therapy. A focused bedside ultrasound scan was performed revealing a large pericardial effusion. The child was referred to a tertiary paediatric cardiology centre where he underwent emergency pericardiocentesis, draining a total of 800 mL of pericardial fluid. Fluid analysis excluded infection, and with no other concerns for a GvHD flare the diagnosis of an imatinib-induced pericardial effusion was made. On terminating the therapy, the pericardial collection did not reaccumulate. Tyrosine kinase inhibitor-induced pericardial and/or pleural effusion should be considered as a differential diagnosis in paediatric patients on this therapy presenting in a similar manner.
      Keywords: Cardiovascular medicine, Paediatrics, Unusual presentation of more common disease/injury, Pharmacology and therapeutics, Unwanted effects / adverse reactions
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-229975
      Issue No: Vol. 12, No. 9 (2019)
       
  • Case of nasopharyngeal teratoma: challenges in the management
    • Authors: Mishra, N; Mandelia, A, Naranje, K, Singh, A.
      Abstract: Teratomas are tumour with tissue or organ components resembling normal derivatives of more than one germ layer. The most common site of congenital teratoma is sacrococcygeal region. Teratomas in head and neck region are rarer. We report a 4-day-old male baby who presented with nasopharyngeal mass, which led to respiratory distress and feeding difficulty. It was managed with surgical excision with multidisciplinary approach.
      Keywords: Intensive care, Rare disease, Neonatal intensive care, Ear, nose and throat/otolaryngology
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-230105
      Issue No: Vol. 12, No. 9 (2019)
       
  • Haemorrhagic small bowel melanoma metastasis: a clinical rarity
    • Authors: Zoumpos, A; Ho, N. A. H, Loeschhorn-Becker, R, Schuppert, F.
      Abstract: We report on a clinical case with haemorrhagic small bowel metastases in a malignant melanoma patient with anaemia, diagnosed using small bowel video capsule endoscopy (VCE). A 67-year-old male patient with a previous diagnosis of malignant melanoma presented with anaemia and vertigo on admission. The standard diagnostic protocol for gastrointestinal (GI) bleeding investigation including a gastroscopy, colonoscopy and small bowel capsule endoscopy, as well as abdominal sonography and a restaging protocol including chest–abdomen–pelvis CT (CAP-CT), echocardiography and ECG was applied. Gastroscopy and colonoscopy were not conclusive in determining the bleeding source. VCE provided evidence for numerous haemorrhagic small bowel metastases. The CAP-CT was unremarkable for small bowel findings. Due to a diffuse metastatic disease diagnosed in heart, brain, liver, spleen and bone metastasis, the patient was treated in a conservative/palliative manner. VCE can provide precious information about GI bleeding of unknown origin when classical diagnostic methods are non-conclusive.
      Keywords: Endoscopy, GI bleeding, Gastroenterology, Oncology, Small intestine, Open access, Rare disease, Intestinal cancer, Dermatology
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-230454
      Issue No: Vol. 12, No. 9 (2019)
       
  • Caecal duplication cyst leading to intussusception in an adult
    • Authors: Al-Shaibi, M. A; Raniga, S. B, Asghar, A. N. M, Al Tubi, I. S.
      Abstract: Colonic duplication cyst is an uncommon cause of intussusception in adults. We report a case of caecal duplication cyst in a 24-year-old adult with a 3-year history of recurrent abdominal pain mainly in the periumbilical region. CT and MRI of the abdomen showed a lesion suggesting an caecal duplication cyst within an intussuception. The patient underwent diagnostic laparoscopy and was found to have a caecal duplication cyst acting as a lead point for the intusseception for which laparoscopic-assisted resection was performed. The histological examination confirmed the presence of intestinal duplication cyst without any underlying malignancy.
      Keywords: Surgery, Rare disease, Radiology, Gastrointestinal surgery
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-230567
      Issue No: Vol. 12, No. 9 (2019)
       
  • Postcolonoscopy splenic rupture: the under-reporting of an unpropitious
           phenomena'
    • Authors: Chow, B. L; Zia, K.
      Abstract: Splenic rupture secondary to colonoscopy is a rare but potentially fatal complication. Given the disparity between the small number of case reports with the incidence reported by some investigators, we contend that the former is not representative of the true extent of this sequela. We present a case report of postcolonoscopy splenic rupture, where the patient had a bizarre initial presentation of chest pain and collapse; and only developed haemodynamic instability and abdominal pain on day 2 postprocedure. Diagnosis was made with a CT scan, and resolution of symptoms was achieved with a splenectomy.
      Keywords: Endoscopy, Gastroenterology, Surgery, Rare disease, General surgery
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-231047
      Issue No: Vol. 12, No. 9 (2019)
       
  • Adrenal lymphoma presenting as primary hypoadrenalism in the elderly
    • Authors: Bhargava, R; Dixon, A.
      Abstract: Adrenal lymphoma causing primary hypoadrenalism in the elderly is a very rare finding. We describe a case of an 85-year-old man who was admitted to our hospital. He had a short history of hypotension and unresponsiveness. He was referred to the endocrine team, after a CT scan of his thorax abdomen and pelvis demonstrated significant enlargement of both his adrenal glands with associated lymphadenopathy. This scan was originally done to rule out an occult intra-abdominal malignancy. In addition, a tetracosactide (short Synacthen) test demonstrated adrenal insufficiency. This case demonstrates that adrenal lymphoma should be considered as an important differential when there is evidence of adrenal gland hyperplasia, lymphadenopathy and adrenal insufficiency.
      Keywords: Endocrinology, Unusual presentation of more common disease/injury, Haematology (incl blood transfusion), Adrenal disorders
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-231114
      Issue No: Vol. 12, No. 9 (2019)
       
  • Suprapubic versus prepubic sinus: a literature review
    • Authors: Mostafa, M. S; Darwish, A. A.
      Abstract: Urachal sinus usually presents with umbilical discharge and the opening can rarely be located between the umbilicus and the symphysis pubis and the so called suprapubic sinus (SPS). There is another different entity of cases reported in literature with a similar presentation but with an opening anywhere between the umbilicus and symphysis pubis but differs from SPS in the pathway of the tract and the epithelial lining. We report a case of a 2-year-old boy presenting with a prepubic sinus that was managed with surgical excision. After a thorough literature review, we compare our case to other prepubic and SPS.
      Keywords: Paediatrics, Surgery, Rare disease, Congenital disorders, Urological surgery
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-231138
      Issue No: Vol. 12, No. 9 (2019)
       
  • Thrombocytopaenia: a serious side effect of diazoxide
    • Authors: Thus, K. A; den Boogert, W. J, van der Heyden, J. C.
      Abstract: A 2.5-year-old boy with a history of (transient) congenital hyperinsulinism was admitted to the paediatric ward with recurrent hypoglycaemia. Diazoxide 5 mg/kg/day and hydrochlorothiazide 2 mg/kg/day were initiated. After increasing the dose of diazoxide to 10 mg/kg/day, the child developed mild rectal bleeding, petechiae, epistaxis and haematemesis. Blood screening showed severe thrombocytopaenia. Diazoxide and hydrochlorothiazide were stopped, and his platelet count normalised. Drug rechallenge was positive. Drug-induced immune thrombocytopaenia was diagnosed.
      Keywords: Endocrinology, Paediatrics, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Pharmacology and therapeutics, Haematology (incl blood transfusion)
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-231222
      Issue No: Vol. 12, No. 9 (2019)
       
  • Robotic resection of a multicystic tailgut cyst
    • Authors: Roy, S. P; Khalessi, A, Phan-Thien, K.-C.
      Abstract: A 29-year-old woman with recurrent pelvic pain that progressed post partum was diagnosed with a multicystic pararectal lesion on ultrasound and CT scan. Physiology was conducted to establish a preoperative function and pudendal nerve integrity. The lesion was resected using a Da Vinci Xi robotic system. She recovered uneventfully with complete resolution of her symptoms. Hindgut cysts most often arise in the presacral space as the result of incomplete embryogenesis. Patients may present with various non-specific symptoms. Although the majority are benign, resection is recommended, as there is a 30%–43% risk of malignancy.
      Keywords: Surgery, Novel treatment (new drug/intervention; established drug/procedure in new situation), Radiology
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-231286
      Issue No: Vol. 12, No. 9 (2019)
       
  • Vanishing gastric hyperplastic polyps
    • Authors: Okazaki, Y; Kotani, K, Higashi, Y.
      Keywords: Drugs: gastrointestinal system, Gastroenterology, Images in..., Stomach and duodenum
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-231341
      Issue No: Vol. 12, No. 9 (2019)
       
  • Simultaneous acute appendicitis in identical twin boys
    • Authors: Kovler, M. L; Jelin, E. B.
      Abstract: Acute appendicitis is one of the most common causes of abdominal pain in children but remains a diagnostic challenge, and insight into the aetiology of the condition is lacking. A case of simultaneous acute appendicitis in monozygotic twin boys is reported here. Familial aggregation in acute appendicitis has been described, but the underlying causes for this are not well understood. The patients reported here were both genetically identical and lived a mostly identical lifestyle. Their simultaneous presentation would be exceedingly rare if explained entirely by chance, suggesting a role for both genetic and environmental influences. Increased knowledge of this occurrence may assist in prompt diagnosis and reporting on the incidence and timing of appendicitis in monozygotic twins could better elucidate the genetic and environmental factors that predispose to this disease.
      Keywords: Surgery, Unusual presentation of more common disease/injury, Gastrointestinal surgery
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-231348
      Issue No: Vol. 12, No. 9 (2019)
       
  • Ziv-aflibercept combined with intravitreal steroid for management of
           peripheral exudative haemorrhagic chorioretinopathy
    • Authors: Balakrishnan, D; Oli, A.
      Abstract: Peripheral exudative haemorrhagic chorioretinopathy (PEHCR) is considered a variant of polypoidal choroidal vasculopathy. It may have varried presentations and systemic associations. We present a case of PEHCR which dramatically responded to intravitreal steroid and ziv-aflibercept injection. This case not only highlights the promising role of combination therapy with intravitreal steroids and ziv-aflibercept but also the need to look for any associated systemic comorbidity.
      Keywords: Macula, Retina, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Ophthalmology
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-231668
      Issue No: Vol. 12, No. 9 (2019)
       
  • Accessory axillary breasts versus axillary tumours: diagnostic challenge
    • Authors: Tago, M; Katsuki, N. E, Yamashita, S.-i.
      Keywords: Surgery, Images in..., General practice / family medicine, Breast surgery, General surgery
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-231715
      Issue No: Vol. 12, No. 9 (2019)
       
  • Subcapsular haematoma of the spleen complicating acute pancreatitis
    • Authors: Fenando, A; Tatineni, S, Raziq, F. I, Alratroot, A.
      Keywords: Intensive care, Gastrointestinal system, Gastroenterology, Pancreatitis, Images in..., Drugs and medicines, Adult intensive care
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-231716
      Issue No: Vol. 12, No. 9 (2019)
       
  • Quinckes disease
    • Authors: Chandran, A; Sakthivel, P, Chirom, A. S.
      Keywords: Emergency medicine, Images in..., Ear, nose and throat/otolaryngology, Resuscitation
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-231967
      Issue No: Vol. 12, No. 9 (2019)
       
  • Acute attack of gout precipitated by concomitant use of aspirin and
           diuretic in a rheumatic mitral stenosis patient
    • Authors: Khanra, D; Soni, S, Ola, R, Duggal, B.
      Keywords: Cardiovascular medicine, Images in..., Valvar diseases, Rheumatology
      PubDate: 2019-09-11T00:21:22-07:00
      DOI: 10.1136/bcr-2019-232085
      Issue No: Vol. 12, No. 9 (2019)
       
  • Sclerosing angiomatoid nodular transformation of the spleen
    • Authors: Liao, J; Musbahi, A, Dasgupta, K, Thibaut, H, Gopinath, B.
      Abstract: The authors described a case of sclerosing angiomatoid nodular transformation of the spleen (SANT) in a 50-year-old woman presented with persistent neutrophilia and unintentional weight loss. An incidental splenic mass was initially found on abdominal ultrasound. It was found to be progressive in size and with high likelihood of central necrosis on further CT of abdomen and pelvis. The patient subsequently underwent an uneventful laparoscopic splenectomy. The splenic specimens were sent for laboratory analysis and the histopathological findings were highly suggestive of SANT. The patient then had routine surgical follow-ups and was eventually discharged with no further clinical concern.
      Keywords: Surgery, Rare disease, Pathology, Radiology, Gastrointestinal surgery, General surgery
      PubDate: 2019-09-08T23:36:00-07:00
      DOI: 10.1136/bcr-2019-229757
      Issue No: Vol. 12, No. 9 (2019)
       
  • Haemolytic disease of the fetus and newborn diagnosed after delivery of a
           baby to a mother with low anti-E antibody titres
    • Authors: Lee, T. T. M; Clarke, P, Prosser-Snelling, E.
      Abstract: The authors report a term male neonate who was born in unexpectedly poor condition with low Apgar scores and low venous cord gas pH. He required admission to the neonatal unit and was found to have developed haemolytic anaemia with associated hydrops, following a presumed severe antenatal insult. Antenatally, low levels of anti-E antibodies (titre 8) had been detected at 28 weeks’ gestation. Following the British Society for Haematology and local neonatal team guidance, advice was given for cord direct antiglobulin test, full blood count and bilirubin at delivery. This case highlights the rare case of haemolytic disease of the fetus and newborn on a background of maternal low titre anti-E antibodies.
      Keywords: Obstetrics and gynaecology, Paediatrics, Unexpected outcome (positive or negative) including adverse drug reactions, Haematology (incl blood transfusion), Pregnancy, Materno-fetal medicine
      PubDate: 2019-09-08T23:36:00-07:00
      DOI: 10.1136/bcr-2019-229816
      Issue No: Vol. 12, No. 9 (2019)
       
  • Delirium superimposed on dementia precipitated by an unexpected bladder
           tumour
    • Authors: Redknap, C; Kaitiff, D.
      Abstract: A patient in her 70s presented with confusion, agitation and psychotic symptoms. No cause was found until the incidental discovery of urothelial carcinoma. Upon removal of the tumour, the psychiatric symptoms largely improved leaving residual symptoms indicative of dementia. The patient had not been diagnosed with dementia previously and this made for an interesting disease presentation and progression. We discuss the challenges of diagnosing delirium and dementia in complex patients such as these and the importance of identifying a cause when cognition has been impaired by a suspected delirium.
      Keywords: Psychiatry, Reminder of important clinical lesson, Delirium, Memory disorders (psychiatry), Psychiatry of old age
      PubDate: 2019-09-08T23:36:00-07:00
      DOI: 10.1136/bcr-2019-230210
      Issue No: Vol. 12, No. 9 (2019)
       
  • Documented exogenous progesterone hypersensitivity related to the use of
           combined oral contraceptive
    • Authors: Chamorro-Pareja, N; Carrillo-Martin, I, Haehn, D. A, Gonzalez-Estrada, A.
      Keywords: Endocrine system, Endocrinology, Images in..., Drugs and medicines, Drugs: endocrine system
      PubDate: 2019-09-08T23:36:00-07:00
      DOI: 10.1136/bcr-2019-230416
      Issue No: Vol. 12, No. 9 (2019)
       
  • Sertoli-Leydig cell tumour in a patient with non-classic congenital
           adrenal hyperplasia: an uncommon duo
    • Authors: Kamani, S; Sampathkumar, G, Asirvatham, A. R, Balachandran, K.
      Abstract: Polycystic ovary syndrome is the most common cause of hyperandrogenism in young females. Other causes are congenital adrenal hyperplasia (CAH), androgen-producing tumours and drugs. The severity and tempo of virilisation help in distinguishing the tumoural from non-tumoural causes. We report a rare case of non-classic CAH and androgen-producing ovarian tumour in the same patient, causing hyperandrogenism. A 15-year-old female patient presented with secondary amenorrhea, excessive facial hair growth and clitoromegaly for 6 months. Due to severe virilisation, tumoural aetiology was considered. Investigations showed marked elevation of testosterone and mild elevation of 17 hydroxy progesterone (17OHP). Imaging confirmed right ovarian tumour. Adrenocorticotropic hormone stimulated 17OHP, was elevated confirming the diagnosis of underlying non-classic CAH. Surgical removal of the tumour was followed by improvement in hyperandrogenism, but persistent elevation of 17OHP confirmed the underlying presence of non-classic CAH.
      Keywords: Endocrine system, Endocrinology, Oncology, Unusual association of diseases/symptoms, Drugs and medicines, Endocrine cancer, Adrenal disorders
      PubDate: 2019-09-08T23:36:00-07:00
      DOI: 10.1136/bcr-2019-230691
      Issue No: Vol. 12, No. 9 (2019)
       
  • Intravitreal bevacizumab in treatment of iris metastasis from primary lung
           carcinoma
    • Authors: Raval, V; Saldanha, M, Mittal, R, Das, T.
      Abstract: Iris metastases secondary to primary malignancy are rare and usually have poor overall survival. We report a case of a man aged 60 years who presented with chief complaints of progressive pain and redness of right eye of 5 days duration. Slit-lamp examination revealed a greyish white irregular nodular mass, arising from anterior iris surface reaching up to mid-periphery. With a clinical suspicion of iris metastasis, systemic investigations were requested. CT scan of chest reported a well-defined lobulated lesion in the lower lobe of lung with presence of multiple satellite nodules in both lungs suggestive of primary malignant neoplasm of lung. Tissue diagnosis was obtained through an iris lesion biopsy, which was opted for relative ease of approach. Histopathology and immunohistochemistry confirmed the diagnosis of iris metastasis secondary to non-keratinising squamous cell carcinoma of lung. Local intravitreal injection of antivascular endothelial growth factor was administered for tumour regression along with systemic chemotherapy.
      Keywords: Eye, Oncology, Iris, Novel treatment (new drug/intervention; established drug/procedure in new situation), Drugs and medicines, Lung cancer (oncology), Ophthalmology, Pathology
      PubDate: 2019-09-08T23:36:00-07:00
      DOI: 10.1136/bcr-2019-231097
      Issue No: Vol. 12, No. 9 (2019)
       
  • High-pressure chemical injection injury to the hand: usually
           underestimated injury with major consequences
    • Authors: Sharma, R; John, J. R, Sharma, R. K.
      Abstract: The damages caused by high-pressure injuries are often underestimated. Such incidents are characterised by a small punctiform entry wound and the normal colour of skin. The internal damage caused by these injuries can be severely devastating in nature. These injuries required emergent surgical debridement and irrigation. Postoperatively intensive physiotherapy is required for the successful return of hand function. The final functional outcome depends on the initial latency to treatment, nature of injected material, location and volume of injection and postoperative physiotherapy.
      Keywords: Emergency medicine, Rehabilitation medicine, Surgery, Editor's choice, Reminder of important clinical lesson, Radiology, Physiotherapy, Plastic and reconstructive surgery, Trauma, Occupational and environmental medicine, Accidents, injuries
      PubDate: 2019-09-08T23:36:00-07:00
      DOI: 10.1136/bcr-2019-231112
      Issue No: Vol. 12, No. 9 (2019)
       
  • Angioedema secondary to amlodipine and lisinopril: a documented
           progression
    • Authors: Morgenthau, A; Kim, E.
      Keywords: Cardiovascular medicine, Emergency medicine, Safety, Images in..., Pharmacology and therapeutics, Hypertension, Unwanted effects / adverse reactions
      PubDate: 2019-09-08T23:36:00-07:00
      DOI: 10.1136/bcr-2019-232019
      Issue No: Vol. 12, No. 9 (2019)
       
  • Acute myocardial infarction in a young elite cyclist: a missed opportunity
    • Authors: Thompson, C. S; Pass, M, Timothy, T, Hung, J, Egred, M.
      Abstract: A 27-year-old elite-level professional cyclist presented to the emergency department with a 6-hour history of chest pain and vomiting after prematurely aborting a competitive event. ECG demonstrated anterior ST segment elevation myocardial infarction, and blood tests revealed a grossly elevated high-sensitivity troponin T. Emergent coronary angiography confirmed the presence of a thrombus in the mid-left anterior descending artery with possible spontaneous coronary artery dissection. The patient recovered well following balloon angioplasty and thrombus aspiration, despite delayed recognition, invasive investigation and intervention.
      Keywords: Cardiovascular medicine, Rare disease, Interventional cardiology, Ischaemic heart disease, Radiology (diagnostics)
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2018-228560
      Issue No: Vol. 12, No. 9 (2019)
       
  • Brucellosis, an uncommon cause of acute acalculous cholecystitis: two new
           cases and concise review
    • Authors: Hariz, A; Beji, I, Hamdi, M. S, Cherif, E.
      Abstract: Acalculous cholecystitis etiologies while numerous, some of them are less-known such as brucellosis. In this report, we elaborate the clinical findings, investigations and management of two female patients presenting acalculous cholecystitis in whom diagnosis of acute brucellosis was retained. Both patients had fever, asthenia and abdominal tenderness. Laboratory results showed evidence of inflammation as well as hepatic cytolysis while cholestasis was noted in one patient. In both cases, ultrasound study and CT confirmed the presence of acalculous cholecystitis. Serology (tube agglutination test) led to the diagnosis of brucellosis. Diagnosis of brucellosis-related acute cholecystitis was established in both cases based on imaging findings as well as serology without resorting to cholecystectomy. Favourable clinical response to specific antibiotic therapy further supported our diagnosis as well as our decision to avoid surgery. Although few cases have been reported, brucellosis must be considered as a cause of acalculous cholecystitis, especially in endemic countries.
      Keywords: Gastroenterology, Pancreas and biliary tract, Infectious diseases, Surgery, Unusual presentation of more common disease/injury
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-229616
      Issue No: Vol. 12, No. 9 (2019)
       
  • Paediatric oropharyngeal tularaemia requiring surgical intervention
    • Authors: Nemmour, A; Bakri, A, Fischer, C. A, Brand, Y.
      Abstract: Tularaemia is a rare infectious disease endemic in most European countries caused by the bacterium Francisella tularensis. 1 Patients often show acute non-specific symptoms, which causes a delay in diagnosis and proper treatment, potentially resulting in significant morbidities such as deep neck abscess, meningitis, endocarditis and septic shock. The authors present a case of a 5-year old boy with a 4-day history of fever, sore throat and painful cervical lymphadenopathy, whose clinical progression worsened despite being treated with recommended antibiotics as per WHO guidelines once the diagnosis of Tularaemia was confirmed by serologic tests. He developed a parapharyngeal abscess and a persistent left necrotic cervical lymph node, which both were surgically drained and excised, respectively, and an extended course of antibiotic was given. Subsequently, the patient fully recovered from the illness and the follow-up was negative for relapse.
      Keywords: Infectious diseases, Paediatrics, Surgery, Rare disease, Otolaryngology / ENT
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-229754
      Issue No: Vol. 12, No. 9 (2019)
       
  • Hashimotos encephalopathy: a rare cause of delirium
    • Authors: Ogbebor, O; Patel, K.
      Abstract: Cognitive impairment is a frequent presentation of patients who come to the hospital. We report a case of a patient who presents with a common symptom, however, with a rare disease. This is an 84-year-old woman with a history of hypertension and atrial fibrillation who was reported to have confusion of 3 weeks. Investigations, including a complete blood count, MRI imaging of the brain, cerebrospinal fluid analysis and paraneoplastic screen, were all negative. Of note, thyroid peroxidase antibody was elevated. She did not have a history of thyroid disease. Following this, an assessment of Hashimoto encephalopathy was made. She was started on steroids and she showed remarkable recovery within 2 months, therefore, confirming the diagnosis. This case report emphasises the need to consider Hashimoto’s encephalopathy as a differential for delirium especially when other common aetiologies have been ruled out.
      Keywords: Psychiatry, Rare disease, Neurology, Neuroendocrinology, Memory disorders (psychiatry), Dementia due to medical condition
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-230118
      Issue No: Vol. 12, No. 9 (2019)
       
  • Massive prosthetic aortic abscess: an overarching plight 7 years
           post-Bentalls procedure
    • Authors: McCann, M; Stamp, N, Larbalestier, R.
      Abstract: Infections of proximal aortic vascular grafts are a catastrophic complication of aortic surgery. Despite aggressive antimicrobial and surgical intervention, mortality and reinfection rates remain significant. Here, we describe a man aged 71 years with a medical history of bioprosthetic aortic valve with aortic arch replacement (modified Bentall’s procedure), who developed a large periprosthetic abscess due to Staphylococcus aureus 7 years after his initial surgery. The patient’s preference was to avoid redo surgery, however despite high-dose intravenous flucloxacillin and oral rifampicin therapy, there was rapid progression of the abscess, necessitating urgent surgery. Notwithstanding the burden of infection, the patient underwent successful surgical excision and graft re-implantation and remains independent and well, almost 2 years postoperatively.
      Keywords: Infections, Surgery, Reminder of important clinical lesson, Drugs and medicines, Cardiothoracic surgery
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-230204
      Issue No: Vol. 12, No. 9 (2019)
       
  • Think before you leap: cutaneous hypersensitivity to
           polytetrafluoroethylene arteriovenous graft masquerading as infection
    • Authors: Iqbal, R; Bhandare, D, St Louis, M, Ruchi, R.
      Abstract: Polytetrafluoroethylene (PTFE) graft is a synthetic graft commonly used in chronic haemodialysis patients. Expected complications of synthetic grafts include infection, thrombosis, oedema and pain. PTFE is a non-textile graft that is chemically inert, electronegative and hydrophobic. Due to their chemical properties, PTFE grafts have lower risks of these adversities. We present a patient with a rare case of cutaneous hypersensitivity to a PTFE graft.
      Keywords: Surgery, Rare disease, Renal medicine, Dialysis, Vascular surgery
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-230401
      Issue No: Vol. 12, No. 9 (2019)
       
  • Interstitial pneumonia with autoimmune features and platypnea-orthopnea
           syndrome
    • Authors: Mathew, U; Mittal, A, Vyas, S, Ray, A.
      Abstract: Interstitial pneumonia with autoimmune features (IPAF) is a recently proposed terminology for interstitial lung disease (ILD) with evidence of autoimmunity that does not meet the criteria for a defined connective tissue disease (CTD). Although ILD is well recognised in patients with established CTD, it is rarely the sole presenting feature of CTD. We report a case of 22-year-old male patient, who presented with progressive shortness of breath for 2 months and had features suggestive of platypnea-orthodeoxia syndrome (POS). Imaging revealed ILD with usual interstitial pneumonia pattern. Patient had features of autoimmune disorder but did not fulfil the criteria for any CTD and hence was labelled as IPAF. His POS was attributed predominantly to the lower lobe disease. The patient responded well to immunosuppressive treatment. A systematic review of literature of all cases with POS due to pulmonary parenchymal involvement has also been done.
      Keywords: Statistics and research methods, Rare disease, Respiratory medicine, Interstitial lung disease, Rheumatology, Connective tissue disease
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-230948
      Issue No: Vol. 12, No. 9 (2019)
       
  • Birt-Hogg-Dube syndrome presenting with spontaneous pneumothorax and
           extensive pulmonary cysts in the absence of skin lesions or renal
           pathology
    • Authors: Kumar, K; Ross, C.
      Abstract: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition which classically manifests with skin lesions such as fibrofolliculomas, pulmonary cysts that predispose to spontaneous pneumothorax and an increased risk of developing renal cell carcinoma. We describe the case of a patient who presented with a spontaneous pneumothorax on a background of multiple lung cysts, in the absence of cutaneous fibrofolliculomas and renal tumours. A germline mutation in the folliculin FLCN gene was subsequently identified, confirming BHD syndrome. Our case highlights the importance of considering a broad differential diagnosis for the cause of a spontaneous pneumothorax in the presence of unexplained cystic lung disease and emphasises the value of maintaining a high index of clinical suspicion for inherited causes of pneumothoraces.
      Keywords: Surgery, Editor's choice, Reminder of important clinical lesson, Genetics, Radiology, Respiratory medicine, Cardiothoracic surgery
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-231039
      Issue No: Vol. 12, No. 9 (2019)
       
  • Encephalopathy in a kidney transplant recipient
    • Authors: Albuquerque, I; Monteiro, A. R, Soares, N, Ferreira, S.
      Abstract: A 60-year-old man presented several times to the emergency department due to confusion and behavioral changes. He was a kidney transplant recipient dependent on hemodialysis due, presumably, to chronic nephropathy of the transplanted kidney, and was not under any immunosuppressive therapy. He was admitted to the hospital ward due to elevation of C reactive protein and severe proteinuria, leukocyturia and erythrocyturia. The alterations found in the spot urine examination were suggestive of nephritic syndrome, consistent with chronic nephropathy of the transplanted kidney. The neurologic deterioration, however, remained unexplained. CT of the brain and cerebrospinal fluid examination were unremarkable. Infection, auto-immune disease and malignancy were excluded. Corticoid therapy was started for rejection nephropathy. The patient improved dramatically and ultimately the transplanted kidney was removed. Chronic nephropathy of the transplanted kidney was confirmed histologically and the patient remained clinically asymptomatic, without corticoid therapy.
      Keywords: Rare disease, Neurology, Neurological injury, Renal medicine, Renal transplantation
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-231077
      Issue No: Vol. 12, No. 9 (2019)
       
  • Partial nephrogenic diabetes insipidus associated with lithium therapy
    • Authors: Nandoshvili, E; Hyer, S, Johri, N.
      Abstract: A 40-year-old Caucasian man developed excessive thirst and polyuria particularly at night over the preceding 6 months. He had been taking lithium for 16 years for the treatment of bipolar affective disorder. Investigations revealed subnormal maximum urinary concentrating ability after 8 hours of water deprivation and only a borderline response of urine osmolality to exogenous desmopressin given by intramuscular injection. A plasma copeptin concentration was elevated at 23 pmol/L. These results were consistent with partial nephrogenic diabetes insipidus. He was encouraged to increase his water intake as dictated by his thirst. In addition, he received amiloride with some improvement in his symptoms. Clinicians should be aware of the risk of nephrogenic diabetes insipidus with long-term lithium use and seek confirmation by a supervised water deprivation test augmented with a baseline plasma copeptin. If increased water intake is insufficient to control symptoms, amiloride may be considered.
      Keywords: Endocrinology, Reminder of important clinical lesson, Renal medicine, Fluid electrolyte and acid-base disturbances, Drugs: endocrine system
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-231093
      Issue No: Vol. 12, No. 9 (2019)
       
  • Statin-induced delayed rhabdomyolysis
    • Authors: Sharma; U.
      Abstract: An elderly woman with a history of hypertension, hypothyroidism, mesenteric vein thrombosis, depression and hyperlipidaemia on statins for>9 years presented with new-onset leg weakness, falls, dark-coloured urine, transaminitis and rhabdomyolysis (creatinine phosphokinase 12 896 U/L; aldolase 45.9 (normal
      Keywords: Anaesthesia, Musculoskeletal and joint disorders, Drug interactions, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Drugs and medicines, Pain (anaesthesia)
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-231125
      Issue No: Vol. 12, No. 9 (2019)
       
  • Systemic steroids for the management of choroidal neovascular membrane
           with pigment epithelial tear and recalcitrant subretinal fluid
    • Authors: Bilgic, A; Sudhalkar, A.
      Abstract: A 67-year-old man was diagnosed to have dry age related macular degeneration in the right eye and a choroidalneovascular membrane (CNVM) with a large pigment epithelial detachment in the left eye, confirmed with clinical examination, angiography and optical coherence tomography scans. He received an intravitreal injection of bevacizumab in the right eye and developed a retinal pigment epithelial (RPE) tear 3 weeks later. 3 consecutive ranibizumab injections failed to clear the subretinal fluid (SRF). A course of systemic steroids was administered and this improved the vision. Subsequently, the patient received one more ranibizumab injection and the disease process resolved. The left eye corrected distance visual acuity (LE CDVA) was 20/30 at the final visit (1 year after the last injection). Systemic steroids may be a management option in patients with CNVM and RPE tear with recalcitrant SRF if there is no contraindication to their use.
      Keywords: Macula, Retina, Novel treatment (new drug/intervention; established drug/procedure in new situation), Ophthalmology
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-231262
      Issue No: Vol. 12, No. 9 (2019)
       
  • Unusual olecranon mass with ulnar nerve compressive neuropathy caused by a
           haemophilic pseudotumour
    • Authors: Yeung, C. M; Blazar, P.
      Abstract: A 55-year-old man with a history of haemophilia A and bilateral haemophilic arthropathy of the elbows presented with an enlarging left elbow mass and worsening paresthesias in the ulnar distribution of the left hand. The mass, originally thought to be olecranon bursitis and treated as such, was found to be due to a haemophilic pseudotumour. The patient underwent successful excision of the haemophilic pseudotumour with concomitant ulnar nerve decompression and had sustained resolution of the pseudotumour and symptoms at 10 years of follow-up. This case demonstrates the need for consideration of haemophilic pseudotumour in the differential diagnosis for olecranon masses and cubital tunnel compressive neuropathy in patients with haemophilia, and highlights the viability of surgical excision as a therapeutic option for the treatment of haemophilic pseudotumours in the elbow.
      Keywords: Musculoskeletal and joint disorders, Surgery, Unusual presentation of more common disease/injury, Drugs and medicines, Neurology, Peripheral nerve disease, Orthopaedics, Orthopaedic and trauma surgery
      PubDate: 2019-09-06T22:54:11-07:00
      DOI: 10.1136/bcr-2019-231589
      Issue No: Vol. 12, No. 9 (2019)
       
  • Eculizumab, a novel potential treatment for acute kidney injury associated
           with preeclampsia/HELLP syndrome
    • Authors: Elabd, H; Elkholi, M, Steinberg, L, Acharya, A.
      Abstract: The kidney is one of the major organs affected in preeclampsia. There is evidence suggesting a role for excessive complement activation in the pathogenesis of preeclampsia. We describe a case of preeclampsia with severe features, including HELLP syndrome (hemolysis, elevated liver enzymes, low platelets) and acute kidney injury (AKI) that developed following caesarian section. The patient required renal replacement therapy. A trial of daily plasma exchange was not effective. The patient received a single dose of eculizumab, a humanised monoclonal IgG antibody that binds to complement protein C5. One week post administration of eculizumab, there was significant improvement in haematologic, hepatic and renal function. Blood pressure had normalised and renal replacement therapy was discontinued. The use of eculizumab may have contributed to recovery of kidney function further supporting the role of complement activation in the pathogenesis of preeclampsia and associated AKI.
      Keywords: Obstetrics, gynaecology and fertility, Renal system, Novel treatment (new drug/intervention; established drug/procedure in new situation), Drugs and medicines
      PubDate: 2019-09-05T20:41:21-07:00
      DOI: 10.1136/bcr-2018-228709
      Issue No: Vol. 12, No. 9 (2019)
       
  • Metastatic porocarcinoma achieving complete radiological and clinical
           response with pembrolizumab
    • Authors: Lee, K. A; Cioni, M, Robson, A, Bataille, V.
      Abstract: A 67-year-old woman presented in 2012 with a crusty nodule on the left lower limb. Histopathological examination at this time reported a poorly differentiated squamous cell carcinoma (SCC). Two years later, she underwent lymphadenectomy and radiotherapy due to unilateral inguinal and pelvic sidewall nodal metastases. The following year she required excision of two subcutaneous lesions, reported pathologically to be SCC metastases. Further imaging following cyberknife radiotherapy to new brain metastases demonstrated widespread metastatic visceral disease. Twelve cycles of carboplatin and capecitabine failed to halt disease progression. In February 2017, she commenced pembrolizumab, achieving an excellent response and currently has no clinical or radiological evidence of disease. Given the unusual behaviour of her cancer, a histopathological review was requested. The diagnosis was revised to that of porocarcinoma (PC). This represents the first documented case of PC treated with immunotherapy. As of March 2019, the patient remains free of disease.
      Keywords: Oncology, Therapeutic indications, Novel treatment (new drug/intervention; established drug/procedure in new situation), Pharmacology and therapeutics, Skin cancer, Dermatology
      PubDate: 2019-09-05T20:41:21-07:00
      DOI: 10.1136/bcr-2018-228917
      Issue No: Vol. 12, No. 9 (2019)
       
  • Spontaneous intracardiac microcavitations in a patient with a colonic
           carcinoma
    • Authors: Graf, A; Steffen, C, Frick, S.
      Abstract: Intracardiac microcavitations consist of airy microbubbles. They are typically found in patients with an intravascular line or device, mechanical heart valves or in decompression sickness. We report a case of a patient in mid-70s who was admitted due to weakness in both legs, left-thoracic pain and fever. Despite the lack of any of the risk factors mentioned above, spontaneous microcavitations were detected in the right sided cardiac cavities. After the detection of liver lesions suspicious for a metastatic disease, a colonoscopy was performed. An ulcerated colonic carcinoma at the ileocoecal valve was diagnosed and highly suspicious for being the entry port of the microcavitations. This unusual presentation of microcavitations together with a colonic neoplasia leads to hypotheses about the journey of the microbubbles from the ascending colon into the right heart. Gastrointestinal tumours are described as being the causes of microbubbles. Translocation of microbubbles through hepatopulmonary shunting are described in the context of locally applied particles of similar size during radioembolisation. A thorough aetiological workup is of importance since the underlying cause is potentially dangerous due to its own nature of disease and due the complications of the microcavitations such as paradoxical emboli or pulmonary sequelae.
      Keywords: Endoscopy, Cardiovascular medicine, Gastroenterology, Oncology, Open access, Unusual presentation of more common disease/injury, Colon cancer, Screening (oncology)
      PubDate: 2019-09-05T20:41:21-07:00
      DOI: 10.1136/bcr-2019-229932
      Issue No: Vol. 12, No. 9 (2019)
       
  • Unusual pseudocyst in a wandering spleen
    • Authors: Manoharan, D; Kumar, A, Krishna, A, Bansal, V. K.
      Abstract: Pseudocysts of the spleen are rare, generally asymptomatic lesions developing secondary to trauma, infection or infarction. When symptomatic, they typically present as non-specific pain in the left hypochondrium, with or without a palpable lump on clinical examination. However, these conventions fail when they occur in a wandering spleen, making imaging critically important. This report describes an unusual case of a 50-year-old who presented with a large cystic mass in a pelvic spleen; imaging facilitated a successful splenectomy and subsequent histopathology revealed a pseudocyst in a wandering spleen.
      Keywords: Gastrointestinal system, Surgery, Rare disease, Drugs and medicines, Interventional cardiology, Clinical diagnostic tests, Gastrointestinal surgery, Radiology (diagnostics)
      PubDate: 2019-09-05T20:41:21-07:00
      DOI: 10.1136/bcr-2019-229948
      Issue No: Vol. 12, No. 9 (2019)
       
  • Utility of cardiac imaging in diagnosis of atypical presentation of
           cardiac fibroma
    • Authors: Flores, C; Lundberg, J, Richardson, R. R, Prasad, D.
      Abstract: Primary cardiac tumours are relatively rare in the paediatric population, with benign tumours accounting for>90% of cases. Cardiac fibromas are rare primary tumours that typically reside in the ventricles. Symptoms are usually the result of blood outflow obstruction or disruption of the cardiac conduction system. They do not typically regress and usually require surgical intervention. In this case, we report a rare finding of a right atrial fibroma in an 18-month-old female who presented with lethargy and vomiting. Chest X-ray revealed an enlarged cardiac silhouette, and follow-up CT showed a 3.7x3.2x3.7 cm hypodense lesion in the right atrium. Cardiac MRI revealed the diagnosis, which was confirmed on pathology.
      Keywords: Cancer - see Oncology, Cardiovascular medicine, Oncology, Unusual presentation of more common disease/injury, Interventional cardiology, Paediatric oncology, Radiology, Radiology (diagnostics)
      PubDate: 2019-09-05T20:41:21-07:00
      DOI: 10.1136/bcr-2019-230333
      Issue No: Vol. 12, No. 9 (2019)
       
  • Simultaneous presentation of parathyroid carcinoma, papillary thyroid
           cancer and ACTH-independent hypercortisolism due to benign cortical
           adenoma
    • Authors: Edafe, O; Debono, M, Tahir, F, Balasubramanian, S. P.
      Abstract: A 46-year-old woman presented with hypertension and renal disease. Investigations showed severe hypercalcaemia due to primary hyperparathyroidism. Imaging demonstrated renal calculi and an incidental left adrenal lesion. Additional biochemistry confirmed adrenocorticotropic hormone-independent hypercortisolism. Ultrasound and sestamibi scan found an enlarged right-sided parathyroid gland and a suspicious right thyroid nodule, biopsy of which suggested papillary carcinoma. The right parathyroid mass, right thyroid lobe and right central compartment tissue along with a segment of the right recurrent laryngeal nerve was resected en-bloc. Completion thyroidectomy and left adrenalectomy were performed 6 months later. Histology showed parathyroid cancer, multifocal papillary thyroid cancer and adrenal clear cell cortical adenoma. Genetic tests were normal. There was no evidence of recurrence at 12 months follow-up. Parathyroid cancer should be suspected in the presence of significant hypercalcaemia, very high parathyroid hormone and end organ damage. Suspicious thyroid nodules on imaging should be appropriately investigated.
      Keywords: Oncology, Surgery, Unusual association of diseases/symptoms, Endocrine cancer, Head and neck surgery, Otolaryngology / ENT, Surgical oncology
      PubDate: 2019-09-05T20:41:21-07:00
      DOI: 10.1136/bcr-2019-230438
      Issue No: Vol. 12, No. 9 (2019)
       
  • A case of fever of unknown origin and recurrent hospital admissions in a
           cardiac patient: emergence of Enterobacter cloacae
    • Authors: Wafa, S. E. I; Ahmed, R, Ling, K. T, Carey, P.
      Abstract: A 72-year-old gentleman with significant cardiac history and a pacemaker in situ initially presented to the emergency department 5 days after he had his pacemaker-unit batteries changed. He had deranged vital signs, productive cough and fever. His chest plain radiograph did not show evidence of infection; however, he had right basal crackles on auscultation, which suggested a lower respiratory tract infection. He was treated with intravenous co-amoxiclav and supportive therapy, which led to his improvement. The patient was discharged but had to be readmitted a total of four times over the span of 4 months due to recurrent fever and associated symptoms. Transthoracic and transoesophageal echocardiograms and CT of the neck/thorax/abdomen/pelvis were done to look for endocarditis, pacemaker-unit infection and other sources of infection. However, these did not show any evidence of infection. He did have persistent raised inflammatory markers and two blood cultures growing Enterobacter cloacae. A fluorodeoxyglucose positron emission tomography scan was done, which showed evidence of pacemaker lead infection. His pacemaker unit was removed, which led to cessation of his symptoms and normalisation of his inflammatory markers. He had no further hospital admissions to date and has been regularly followed up in an outpatient cardiology clinic.
      Keywords: Cardiovascular medicine, Unusual presentation of more common disease/injury, Infectious diseases, Interventional cardiology, Radiology
      PubDate: 2019-09-05T20:41:21-07:00
      DOI: 10.1136/bcr-2019-231108
      Issue No: Vol. 12, No. 9 (2019)
       
  • Atypical presentation of oncocytic parathyroid adenoma masquerading as
           metastatic carcinoma
    • Authors: Abdulla, S; Shamil, E, Wilsher, M, Jacob, A.
      Abstract: Parathyroid carcinoma is the rarest endocrine malignancy. Definitive diagnosis is challenging as it is difficult to distinguish malignant from benign disease. A 71-year-old man presented with weight loss and hypercalcaemia. CT scans revealed multiple lung nodules and lytic bone lesions that were consistent with metastatic dissemination. Technetium-99m-sestamibi-single-photon emission computed tomography scan showed an abnormal uptake in the right thyroid lobe. Fine-needle aspiration (FNA) was performed on three occasions. The patient underwent parathyroidectomy with ipsilateral hemithyroidectomy without postoperative complications. Microscopic examination showed a parathyroid neoplasm with fibrosis and intravascular tumour on a background of unremarkable thyroid parenchyma. This resulted in an initial impression of parathyroid carcinoma. Further review by two independent pathologists provided a final diagnosis of oncocytic parathyroid adenoma. This case highlights the subjectivity and interobserver variation with endocrine histological examination. FNA can induce changes that mimic parathyroid carcinoma on histology. An index of suspicion for benign parathyroid adenomas should be maintained.
      Keywords: Endocrinology, Oncology, Surgery, Rare disease, Ear, nose and throat/otolaryngology, Head and neck cancer, Pathology, Otolaryngology / ENT, Pituitary disorders
      PubDate: 2019-09-05T20:41:21-07:00
      DOI: 10.1136/bcr-2019-231373
      Issue No: Vol. 12, No. 9 (2019)
       
  • Hamptons hump, Westermarks sign and Pallas sign in acute pulmonary
           thromboembolism: a rare concurrence
    • Authors: Shahul, H. A; Manu, M. K, Mohapatra, A. K.
      Keywords: Cardiovascular medicine, Emergency medicine, Images in..., Respiratory medicine, Pulmonary embolism
      PubDate: 2019-09-05T20:41:21-07:00
      DOI: 10.1136/bcr-2019-231693
      Issue No: Vol. 12, No. 9 (2019)
       
  • Replaced right hepatic artery pseudoaneurysm managed with coil
           embolisation
    • Authors: Bains, L; Kori, R, Sharma, R, Kaur, D.
      Abstract: A 20-year-old male patient presented to our emergency surgery department with blunt trauma to the abdomen and in a state of shock. The patient was resuscitated and a Contrast-Enhanced Computed Tomography (CECT) was done which showed a grade 2 liver injury involving segment VIII. The patient was managed conservatively and discharged after 8 days. The patient again presented after 3 weeks with severe anaemia, fever and melena. An upper gastrointestinal endoscopy revealed bile mixed with blood at the ampulla of Vater, consistent with haemobilia. CT angiography showed grade 2 injury of the liver with large haematoma in segment VIII. A large right subcapsular collection, a saccular area consistent with pseudoaneurysm of the replaced right hepatic artery arising from the superior mesenteric artery, was seen. A replaced left hepatic artery arising from the left gastric artery was also observed. The patient underwent right hepatic artery coil embolisation, with postprocedure digital subtraction scan showing no extravasation of contrast. The patient recovered well in the follow-up.
      Keywords: Emergency medicine, Surgery, Unusual association of diseases/symptoms, Interventional cardiology, Surgical diagnostic tests, Radiology (diagnostics), Vascular surgery, Trauma
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2018-227921
      Issue No: Vol. 12, No. 9 (2019)
       
  • Benign gastrobronchial fistula following oesophagectomy in a patient
           presenting with respiratory failure
    • Authors: Favere, K; Vanderbiest, K, Bresseleers, J, Depuydt, P.
      Abstract: Benign gastrobronchial fistula (GBF) is a rare but potentially life-threatening complication of oesophagectomy for malignancy. We present a case of GBF post Ivor-Lewis surgery manifesting as pulmonary sepsis and type II respiratory failure. Clues to the diagnosis were persistent hypercapnia despite high minute ventilation, aspiration of gastric content through the endotracheal tube and accumulation of air in the nasogastric drainage bag. Flexible bronchoscopy confirmed the diagnosis. Surgical exploration identified necrosis of the proximal stomach as causative factor. Despite reconstruction of the oesophagogastric anastomosis and interposition of an intercostal muscle flap, the patient developed a new episode of type II respiratory failure. Bronchoscopy revealed in situ recurrence of the fistula. Patency of the fistula was proven through application of methylene blue with subsequent gastroscopy. A conservative, symptom-based, management was conducted. The patient died 6 hours later.
      Keywords: Intensive care, Gastroenterology, Oncology, Surgery, Oesophagus, Rare disease, Oesophageal cancer, Adult intensive care, Gastrointestinal surgery
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2018-228537
      Issue No: Vol. 12, No. 9 (2019)
       
  • Haemodialysis-associated thrombocytopenia: interactions among the immune
           system, membranes and sterilisation methods
    • Authors: Batalini, F; Aleixo, G. F, Maoz, A, Sarosiek, S.
      Abstract: We present a case of a 47-year-old man with severe thrombocytopenia. The differential diagnosis for thrombocytopenia is wide. The assessment includes an evaluation for falsely low platelet counts (pseudothrombocytopenia), immune-mediated platelet destruction, bone marrow dysfunction, or increased consumption and sequestration. After extensive and systematic workup, we found a relationship of his thrombocytopenia with haemodialysis. Although not widely recognised by clinicians, partly due to an incomplete understanding of its pathophysiology, haemodialysis is also a potential cause of thrombocytopenia. His platelet counts completely normalised after the substitution of his haemodialysis membrane. We concluded that our patient had haemodialysis-induced thrombocytopenia, most likely secondary to electron-beam sterilisation.
      Keywords: Reminder of important clinical lesson, Haematology (incl blood transfusion), Immunology (including allergy), Renal medicine, Chronic renal failure, Dialysis
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-229594
      Issue No: Vol. 12, No. 9 (2019)
       
  • Pulmonary hypertension in metastatic breast cancer: a case of pulmonary
           tumour thrombotic microangiopathy
    • Authors: Tran, L. K; Gross, L. M, Hagley, P, Minkin, R.
      Abstract: Pulmonary tumour thrombotic microangiopathy (PTTM) and pulmonary tumour emboli (PTE) are distinct but related complications of malignancy. The incidence of each is exceedingly rare, unfortunately often being diagnosed postmortem. Patients with PTTM and PTE typically present with dyspnoea associated with a rapid onset of hypoxia due to pulmonary hypertension (PH), and respiratory failure that is almost certain to be fatal. The prognosis is grim due to the rapidity of the clinical decline and difficulty in establishing an ante-mortem diagnosis. We present a case of new-onset severe PH in a young woman with a recently discovered breast mass. She presented with shortness of breath and experienced rapid deterioration of her cardiopulmonary status which we attributed to PTTM. With early initiation of chemotherapy, systemic steroids and sildenafil, the patient dramatically improved. Case reports have identified early use of steroids, phosphodiesterase inhibitors and other alternative therapies as providing possible benefit in PTTM.
      Keywords: Cardiovascular medicine, Oncology, Rare disease, Heart failure, Breast cancer, Respiratory medicine, Pulmonary hypertension
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-229715
      Issue No: Vol. 12, No. 9 (2019)
       
  • Hemiscrotal agenesis with complete testicular descent in Van der Woude
           syndrome: a new phenotypic feature
    • Authors: Eliezer, D. D; Goel, H, Turner, V. M, Deshpande, A.
      Abstract: Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the IRF6 which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and genital anomalies in PPS. We report a case of VWS with the previously unrecognised phenotypic feature of hemiscrotal agenesis. While bifid scrotum has been reported in the more severe PPS, neither VWS nor PPS have previously noted hemiscrotal agenesis as part of the phenotypic picture. Hemiscrotal agenesis without evidence of any genetic anomaly has only been reported four times in the literature to date with two of these being accompanied by complete testicular descent. Treatment options include topical androgen application and/or scrotoplasty to allow for adequate testicular thermoregulation and development to occur.
      Keywords: Paediatrics, Surgery, Rare disease, Genetics, Infant health, Plastic and reconstructive surgery, Urological surgery
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-229938
      Issue No: Vol. 12, No. 9 (2019)
       
  • Acute treatment of psychotic symptoms in a newly diagnosed Lewy body
           dementia patient with an accelerated titration schedule of rivastigmine
           and de-escalation of antipsychotics
    • Authors: Burgett, R. N; Farley, T. M, Beireis, L. A.
      Abstract: A 76-year-old man presented with complaints of increased confusion, visual hallucinations and decline in memory. He was admitted to the hospital and started on quetiapine 50 mg daily for symptom management. Shortly after, he was diagnosed with Lewy body dementia and started on rivastigmine, a cholinesterase inhibitor (ChEI), at 1.5 mg two times per day. The patient’s symptoms continued to worsen and antipsychotics increased for aggressive behaviour. After he became physically aggressive, an extensive medication management review was conducted, prompting an alternative treatment strategy. The quetiapine dose was reduced from 150 mg daily to 12.5 mg daily, his rivastigmine was increased to 3 mg two times per day and all other antipsychotics were discontinued. The up-titration of his rivastigmine after 10 days of therapy was well tolerated with no adverse effects. He demonstrated a clear clinical response to optimised ChEI therapy and low dose quetiapine, showing improvements in alertness and functioning.
      Keywords: Psychiatry, Psychiatry (drugs and medicines), Novel treatment (new drug/intervention; established drug/procedure in new situation), Drugs and medicines, Neurology, Dementia, Psychotherapy
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-230193
      Issue No: Vol. 12, No. 9 (2019)
       
  • Intraperitoneal duodenal perforation secondary to early migration of
           biliary stent: closure with through-the-scope clip
    • Authors: Jadallah, K; Alzubi, B, Sweidan, A, Almanasra, A. R.
      Abstract: Endoscopic biliary stenting is a well-recognised method of palliation of malignant biliary obstruction. Distal stent migration causing duodenal perforation is an uncommon complication of this procedure and is usually delayed. Early stent migration resulting in duodenal perforation is extremely rare and can be easily overlooked. We present a case of stent migration and resultant intraperitoneal duodenal perforation that occurred 24 hours following plastic stent insertion for a malignant biliary stricture in a 63-year-old woman. The patient required emergent abdominal laparoscopy with the placement of intraperitoneal drain, followed by endoscopic extraction of the stent and closure of the defect using a through-the-scope clip. This case report addresses intraperitoneal duodenal perforation secondary to early migration of biliary stents. Special emphasis is placed on the importance of prompt diagnosis and the use of endoclips in the management of this serious complication of endoprosthesis.
      Keywords: Endoscopy, Gastroenterology, Surgery, Open access, Reminder of important clinical lesson, Gastrointestinal surgery
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-230324
      Issue No: Vol. 12, No. 9 (2019)
       
  • Caution in diagnosing angioedema as anaphylaxis
    • Authors: Patel, S; Mathew, R, Bhoi, S.
      Abstract: Angioedema is one of the commonest life-threatening conditions with good outcome timely definitive treatment. However, failure to recognise the common presentation of an uncommon bradykinin-mediated angioedema in time may lead to fatal outcome in the emergency department (ED). We report a case of a 79-year-old male patient who presented to ED with features of ACE inhibitor-induced angioedema which was identified and resuscitated by the emergency physician with use of fresh frozen plasma (FFP) leading to prompt recovery and good outcome.
      Keywords: Cardiovascular system, Emergency medicine, Reminder of important clinical lesson, Drugs and medicines, Resuscitation
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-230329
      Issue No: Vol. 12, No. 9 (2019)
       
  • Spontaneous subdural haematoma in a patient with a total artificial heart
           on warfarin
    • Authors: Moledina, S; Shanmuganathan, M, Pathak, S, Simon, A.
      Abstract: We present the unusual case of a middle-aged woman who developed a spontaneous subdural haematoma (SSH) while on oral anticoagulation therapy for a total artificial heart (TAH). Headache was followed by paraesthesia and numbness of the left hand. The diagnosis was made from a CT scan. Symptoms resolved with conservative management and careful control of anticoagulation. In this case report, the risk factors and pathophysiology behind this condition are explored. TAHs in their own entity are a rare phenomenon. Coupled with the highly unusual presentation of an SSH in which only a few cases have been documented, we hope to highlight the management of such a difficult case. After navigating this complication, we were able to successfully bridge this patient to a heart transplant 26 days after the SSH.
      Keywords: Cardiovascular medicine, Unusual presentation of more common disease/injury, Heart failure, Interventional cardiology, Radiology (diagnostics)
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-230519
      Issue No: Vol. 12, No. 9 (2019)
       
  • A rare case of a primary retroperitoneal mucinous cystic tumour with
           borderline malignancy and literature review
    • Authors: Chaves, M. M; Castro, R, Mota-Vieira, L, Carneiro, V.
      Abstract: Primary retroperitoneal mucinous cystic neoplasms (PRMCN) with borderline malignancy are exceptionally rare tumours with lack of pathognomonic clinical and imaging-specific features. Here, we report a case of PRMCN with borderline malignancy in a 62-year-old woman who presented with abdominal pain. Imaging studies revealed a well-defined cystic mass on the right flank in close relation with the cecum and caecal appendix, without other findings suggestive of malignancy. A possible diagnosis of an ovarian epithelial tumour was ruled out intraoperatively. After surgical excision, microscopic examination allowed the final diagnosis. As there is no evidence of disease during follow-up, complete tumour resection without cystic rupture appears to be the best therapeutic option. Thus, although rare, this tumour should be considered when imaging findings suggest an ovarian mucinous neoplasm in women with normal ovaries. An international registry for rare tumours and longer follow-ups may contribute for more consistent approach for managing these patients.
      Keywords: Oncology, Rare disease, Pathology, Radiology
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-230708
      Issue No: Vol. 12, No. 9 (2019)
       
  • Management of early PEG tube dislodgement: simultaneous endoscopic closure
           of gastric wall defect and PEG replacement
    • Authors: Cmorej, P; Mayuiers, M, Sugawa, C.
      Abstract: A 53-year-old man with dysphagia underwent uneventful placement of a percutaneous endoscopic gastrostomy (PEG) tube for long-term enteral feeding access. 11 hours after the procedure, it was discovered that he had accidentally dislodged the feeding tube. On physical examination, he was found to have a benign abdomen without evidence of peritonitis or sepsis. He was observed overnight with serial abdominal examinations and nasogastric decompression. In the morning, he was taken back to the endoscopy suite where endoscopic clips were employed to close the gastric wall defect and a PEG tube was replaced at an adjacent site. The patient was fed 24 hours thereafter and discharged from the hospital 48 hours after the procedure. Early accidental removal of a PEG tube in patients without sepsis or peritonitis can be safely treated with simultaneous endoscopic closure of the gastrotomy and PEG tube replacement, resulting in earlier enteral feeding and shorter hospital stay.
      Keywords: Gastroenterology, Nutrition and metabolism, Surgery, Stomach and duodenum, Parenteral / enteral feeding, Gastrointestinal surgery
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-230728
      Issue No: Vol. 12, No. 9 (2019)
       
  • Left renal vein entrapment syndrome: nutcracker syndrome!
    • Authors: Dunphy, L; Penna, M, Tam, E, EL-Kafsi, J.
      Abstract: Nutcracker syndrome (NCS) is a rare vascular compression disorder that involves compression of the left renal vein most commonly between the aorta and the superior mesenteric artery (SMA), although variations exist. It is associated with the formation of the left renal vein from the aortic collar during the 6th–8th week of gestation and abnormal angulation of the SMA from the aorta. Collateralisation of venous circulation including mainly the left gonadal vein and the communicating lumbar vein are the most significant effects. It has a female predilection occurring in the third to fourth decade and it tends to be diagnosed earlier in men. Affected individuals may present with a myriad of symptoms such as haematuria, left flank pain and proteinuria. As patients often present with these non-specific symptoms to primary care, knowledge of NCS is essential. The diagnosis can be rendered with Doppler ultrasonography, retrograde venography, CT angiography, intravascular ultrasound and magnetic resonance angiography. The authors describe the case of a 39-year-old woman with a low body mass index (BMI) presenting with generalised abdominal and flank pain as well as chronic microcytic anaemia. Physical examination findings were suggestive of biliary or renal colic. Laboratory investigations confirmed her anaemia (haemoglobin 88 g/L, mean corpuscular volume (MCV) 72 fL), but were otherwise unremarkable. Urinalysis showed proteinuria and haematuria. However, ultrasonography was unremarkable with a normal gallbladder and no evidence of calculi. Her CT scan showed marked compression of the left renal vein between the aorta and the SMA (nutcracker phenomenon), with upstream left renal, left gonadal and left lumbar vein dilatation. She was managed conservatively. This paper provides an overview of the aetiology, embryology, clinical manifestations, imaging modalities and management of NCS.
      Keywords: Emergency medicine, Surgery, Rare disease, General surgery
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-230877
      Issue No: Vol. 12, No. 9 (2019)
       
  • Acquired haemophagocytic lymphohistiocytosis secondary to multiple myeloma
    • Authors: Bhatt, R; Xiao, S, Gohari, P, Podrumar, A.
      Keywords: Haematology (drugs and medicines), Images in..., Drugs and medicines, Haematology (incl blood transfusion)
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-231084
      Issue No: Vol. 12, No. 9 (2019)
       
  • Acquired complement C1 esterase inhibitor deficiency in a patient with a
           rare SERPING1 variant with unknown significance
    • Authors: Rasmussen, E. R; Aanaes, K, Jakobsen, M. A, Bygum, A.
      Abstract: Angioedema (AE) is caused by a wide range of diseases and pharmaceuticals; it can become life-threatening when located to the airways. Patients with deficiency or malfunction of complement C1 esterase inhibitor (hereditary or acquired) experience recurrent AE due to an accumulation of the vasoactive mediator bradykinin (BK). Complement C1 inhibitor normally decreases BK production, so a reduced function hereof causes increased levels. The diagnosis of hereditary or acquired AE can be difficult due to similarities to allergic reactions (swelling, abdominal pain, rash). We describe a 35-year-old man presenting with upper-airway AE progressing rapidly and promptly required cricothyroidotomy. Complement and autoantibody screening together with sequencing of SERPING1 were performed and gave the diagnosis of acquired complement C1 esterase inhibitor deficiency. The patient is unusual to have this disease before the age of 40 years. No associated comorbidities were found. It is important to know that antiallergic medication is not effective in BK-mediated AE.
      Keywords: Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Genetics, Immunology (including allergy), Dermatology
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-231122
      Issue No: Vol. 12, No. 9 (2019)
       
  • Flow-directed micro-catheterisation technique over a detachable coil
    • Authors: Ullman, H; Jones, J, Kaneko, N, Tateshima, S.
      Abstract: Embolisation of neonatal arteriovenous shunts poses several challenges: tortuous and fragile vessels, limited contrast volume and few specialised paediatric endovascular devices. In a 9-day-old patient with a choroidal type vein of Galen malformation we encountered an extremely tortuous posterior choroidal artery pedicle during endovascular treatment. After attempted selection using a traditional over-the-wire technique, we advanced a platinum coil through the micro-catheter. High flow within the feeder directed the soft and malleable coil anterograde. We then advanced the catheter over the coil’s pusher wire in a facile manner to an ideal position for embolisation. This approach may be especially useful in cases requiring coil/vinyl-based liquid embolics, given that the only flow-directed micro-catheter available to most operators is compatible with n-Butyl cyanoacrylate alone. Moreover, the soft distal portion of coil may impart a safety benefit over traditional guidewires in easily perforated neonatal vasculature.
      Keywords: Paediatrics, Novel treatment (new drug/intervention; established drug/procedure in new situation), Neurology, Neuroimaging, Congenital disorders, Radiology
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-231549
      Issue No: Vol. 12, No. 9 (2019)
       
  • Paroxysmal atrial fibrillation presenting as anterior wall STEMI in an
           elderly woman
    • Authors: Shabbir, M. A; Saad Shaukat, M. H, Sullenberger, L, Torosoff, M.
      Abstract: A 77-year-old woman without traditional risk factors for coronary artery disease (CAD) underwent coronary CT-angiography for evaluation of palpitations after negative Holter monitoring and non-diagnostic ECG exercise stress test. Coronary artery calcium score was reported zero; 1 day later, she was admitted with anterior-wall ST elevation myocardial infarction. Acute left anterior descending artery thrombus was treated with mechanical thrombectomy and Percutaneous Coronary Intervention (PCI). Interestingly, the coronary arteries were angiographically normal. During hospitalisation, paroxysmal atrial fibrillation was noted followed by initiation of anticoagulation. Echocardiogram did not show thrombus or atrial shunt. Cardioversion with Sotalol was successful. Myocardial infraction was most likely cardioembolic secondary to paroxysmal atrial fibrillation—consistent with longstanding history of palpitations. Accounting for 3% of acute coronary syndromes, coronary embolism is treated with therapeutic anticoagulation for at least 3 months irrespective of cause and carries a higher risk of adverse cardiovascular events.
      Keywords: Cardiovascular medicine, Unusual presentation of more common disease/injury, Interventional cardiology, Arrhythmias
      PubDate: 2019-09-04T23:42:37-07:00
      DOI: 10.1136/bcr-2019-231996
      Issue No: Vol. 12, No. 9 (2019)
       
  • Neurocutaneous melanosis: a rare manifestation of congenital melanocytic
           nevus
    • Authors: Lee, J. H; Jackson, A. B, Ren, Y, Rao, K. I.
      Keywords: Paediatrics, Images in..., Neurology, Dermatology
      PubDate: 2019-08-31T03:06:32-07:00
      DOI: 10.1136/bcr-2018-227621
      Issue No: Vol. 12, No. 8 (2019)
       
  • Neurosyphilis presenting as pure cerebellar ataxia: an atypical
           manifestation
    • Authors: Garg, D; Vibha, D, Pandit, A. K, Srivastava, A. K.
      Abstract: Neurosyphilis has become an uncommon diagnosis in the current era. Neurological manifestations of syphilis usually lie within the spectrum of meningovascular syphilis, tabes dorsalis or general paresis of the insane. Although sensory ataxia may occur as part of spinal cord involvement, cerebellar ataxia has been rarely described as a manifestation of neurosyphilis. In this report, we describe a rare case neurosyphilis presenting in the form of a pure pancerebellar syndrome of subacute progression.
      Keywords: Infectious diseases, Unusual association of diseases/symptoms, Meningitis, Neurology, Brain stem / cerebellum, Infection (neurology)
      PubDate: 2019-08-31T03:06:32-07:00
      DOI: 10.1136/bcr-2019-231058
      Issue No: Vol. 12, No. 8 (2019)
       
  • Duodenal neuroendocrine tumour associated with minimal change
           glomerulonephritis
    • Authors: Montague, E; Hockenhull, K, Lamarca, A, Al-Sayed, T, Hubner, R. A.
      Abstract: Paraneoplastic glomerular disease is an increasingly well-recognised entity, and a wide range of both solid and haematological malignancies have been implicated. The most common glomerular disease associated with cancer is membranous nephropathy. Only a few case reports have described an association between neuroendocrine tumours (NETs) and glomerulonephritis and only one paediatric case in relation to minimal change disease. A 76-year-old woman with a well-differentiated duodenal NET presented with nephrotic syndrome and renal biopsy was suggestive of minimal change glomerulonephritis. Standard therapy with corticosteroids brought little benefit, but a dramatic improvement was seen following initiation of systemic anticancer therapy with lanreotide, a somatostatin analogue. Less than 1 month after initiation of lanreotide, the patient was no longer in a nephrotic state, and after a further 2 months of follow-up had shown no sign of relapse.
      Keywords: Oncology, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Endocrine cancer, Intestinal cancer, Renal medicine, Nephrotic syndrome, Proteinurea
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2018-227987
      Issue No: Vol. 12, No. 8 (2019)
       
  • Laryngopyocele in a case of bilateral mixed laryngocele: an impending
           airway emergency
    • Authors: Saravanam, P. K; Manimaran, V, Ramadhan, M, Prakash, G. K.
      Abstract: Laryngopyocele is a rare complication involving the laryngocele which can present with acute airway compromise. A 31-year-old man presented with acute onset respiratory distress and dysphagia. He had swelling on either side of upper aspect of the neck with tenderness on left side. Videolaryngoscopy using 70° rigid Hopkins rod telescope showed a swelling in the left pyriform sinus pushing the ipsilateral vocal cord. However, glottic space was adequate. Contract-enhanced CT scan of the neck confirmed left-sided mixed laryngopyocele with contralateral mixed laryngocele. Patient underwent excision of both the lesions in a single stage by transcervical approach. Laryngopyocele in a case of bilateral mixed laryngocele presenting as an impending airway emergency has not been reported in literature. The diagnostic and therapeutic challenges are discussed here along with review of literature.
      Keywords: Rare disease, Pathology, Ear, nose and throat/otolaryngology
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-229450
      Issue No: Vol. 12, No. 8 (2019)
       
  • Acute hepatitis due to infectious mononucleosis
    • Authors: Manappallil, R. G; Mampilly, N, Josphine, B.
      Abstract: The syndrome of infectious mononucleosis is commonly seen with Epstein-Barr virus (EBV) infection. It may cause acute hepatitis, which is usually self-limiting and characterised by mildly elevated liver enzymes, but rarely jaundice. The patient being reported showcases EBV infection with jaundice, which is an uncommon scenario.
      Keywords: Infectious diseases, Reminder of important clinical lesson, Hepatitis and other GI infections, Tropical medicine (infectious diseases)
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-229679
      Issue No: Vol. 12, No. 8 (2019)
       
  • An unusual case of caecal perforation following ileostomy reversal
    • Authors: Aksakal, G; Ng, S, An, V.
      Abstract: A 63-year-old man with a history of gastro-oesophageal reflux disease underwent defunctioning loop ileostomy for obstructing metastatic rectal cancer prior to receiving long-course neoadjuvant chemoradiotherapy. Four months post completion of neoadjuvant therapy, he underwent an uncomplicated elective ultra-low anterior resection with formation of colonic J pouch and first stage liver metastasectomy for bilobar liver disease. At 1 year, he proceeded to an elective closure of loop ileostomy. Unfortunately, his postoperative course was complicated by profuse diarrhoea with subsequent colonic perforation, necessitating an emergency laparotomy and ileocolic resection with end ileostomy formation. Histopathology and stool studies were consistent with Salmonella Typhi infection. At the present time, Salmonella Typhi causing toxic megacolon and subsequent colonic perforation is an uncommon phenomenon in Australia. Here, we present an unusual case and explain why bowel perforation in this instance likely had a multifactorial aetiology.
      Keywords: Oncology, Surgery, Unexpected outcome (positive or negative) including adverse drug reactions, Colon cancer, Gastrointestinal surgery, General surgery, Surgical oncology
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-229961
      Issue No: Vol. 12, No. 8 (2019)
       
  • Postpartum haemorrhage requiring embolisation of a hypertrophied round
           ligament artery
    • Authors: Dabrowiecki, A; Newsome, J, Bercu, Z. L, Martin, J. G.
      Abstract: A gravida 4 para 1021, 41-year-old woman postcaesarean section at 39 weeks and 1 day with clinically significant haemorrhage required embolisation of unique uterine arterial collaterals. She had persistent haemorrhage after initial bilateral uterine artery embolisation, and on further investigation she was found to have a hypertrophied right round ligament artery. Once successful embolisation of this abnormal right round ligament artery was completed using a combination of Gelfoam and coils, haemostasis was achieved. She had rapid clinical improvement, no complications and no further admissions on postprocedural follow-up over a year and a half later.
      Keywords: Obstetrics and gynaecology, Novel treatment (new drug/intervention; established drug/procedure in new situation), Radiology
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-230071
      Issue No: Vol. 12, No. 8 (2019)
       
  • Diffuse melanosis cutis: a rare manifestation of metastatic melanoma
    • Authors: Chinai, B; Piazza, M, Patel, R, Roy, S.
      Abstract: Diffuse melanosis cutis (DMC) is an extremely rare and late complication of metastatic melanoma (MM). It involves the progressive blue-grey discolouration of the skin and mucous membranes, occurring approximately 1 year after diagnosis of MM. The pathogenesis of DMC is unknown, although specific growth factors, such as alpha-melanocyte stimulating hormone, hepatocyte growth factor and endothelin-1, released by cancer cells, along with release of melanin precursors in the bloodstream and dermal MM micrometastases producing melanin have been attributed. Even with appropriate therapy, DMC seems to be a poor prognostic factor, with a mean survival time of 4–5 months. Here, we report a case of BRAF-mutated MM who presented with DMC. The patient underwent BRAF/MEK inhibition followed by anti-PDL1 therapy, yet passed away approximately 1 year after diagnosis.
      Keywords: Oncology, Rare disease, Skin cancer, Dermatology
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-230396
      Issue No: Vol. 12, No. 8 (2019)
       
  • Diagnostic conundrum: simultaneous gallstone ileus and a gas-filled
           inguinal hernia in a patient with lower abdominal pain
    • Authors: Whitworth, J; James, R, Hopkins, J.
      Abstract: Gallstone ileus and small bowel diverticulosis are uncommon pathologies. However, the simultaneous presentation of both in this patient provided a diagnostic puzzle for the surgical and radiological teams at our institution. The imaging also demonstrated several typical features for the pathologies in question. Ultimately the management of the patient was not compromised by the diagnostic dilemma, but the imaging findings represent a useful learning opportunity for all radiologists and general surgeons.
      Keywords: Gastroenterology, Pancreas and biliary tract, Surgery, Reminder of important clinical lesson, Radiology, Gastrointestinal surgery
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-230422
      Issue No: Vol. 12, No. 8 (2019)
       
  • Macrophage activation syndrome/haemophagocytic lymphohistiocytosis
           secondary to Burkholderia cepacia complex septicaemia in an elderly female
           carrier of X-linked chronic granulomatous disease with extreme
           lyonisation: 'cepacia syndrome revisited
    • Authors: Urriola, N; Williams, A, Keat, K.
      Abstract: X-linked carriers of chronic granulomatous disease (CGD) may become phenotypically affected if substantial skewing from lyonisation occurs. We describe a 73-year-old female carrier with an overt CGD phenotype due to skewed lyonisation, complicated by macrophage activation syndrome (MAS)/haemophagocytic lymphohistiocytosis (HLH) secondary to Burkholderiacepacia complex septicaemia that was successfully treated with a combination of three antibiotics, an antifungal, granulocyte colony stimulating factor, intravenous immune globulin (IVIG) and ciclosporin. Fully phenotypic immunodeficiency is possible in X-linked CGD carriers when skewed lyonisation occurs, rendering such patients to all the same sequelae of CGD such as MAS/HLH. MAS/HLH should be thoroughly excluded when evaluating ‘cepacia syndrome’ in non-CGD patients.
      Keywords: Rare disease, Immunology (including allergy), Respiratory medicine, Pneumonia (respiratory medicine)
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-230434
      Issue No: Vol. 12, No. 8 (2019)
       
  • Behavioural change: a rare presentation of leptospirosis
    • Authors: Tomacruz, I. D; Sandejas, J. C, Berba, R, Sacdalan, D. R.
      Abstract: Neurological manifestations of leptospirosis without severe multiorgan involvement are a rare clinical entity. Despite the increasing prevalence of the disease in many tropical countries, its protean clinical presentations make its timely diagnosis challenging. We report the case of a 44-year-old Filipino man presenting with fever, myalgia, behavioural changes and altered sensorium. Neurological examination did not show any focal neurological deficits or clear signs of meningoencephalitis. Lumbar tap, cranial CT scan and cranial MRI were inconclusive. The diagnosis of leptospirosis with acute encephalitis relied heavily on the patient’s clinical clues, appropriate exposure history and patterns in ancillary laboratory tests. Empiric antibiotic therapy with ceftriaxone was initiated. Seroconversion and fourfold increase in serological antibody titres by leptospirosis microagglutination test later confirmed the diagnosis. The patient was successfully treated, and all neurological complications were reversed.
      Keywords: Infectious diseases, Unusual presentation of more common disease/injury, Tropical medicine (infectious diseases), Neurology, Infection (neurology)
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-230619
      Issue No: Vol. 12, No. 8 (2019)
       
  • Retained products of conception in hysteroscopy in a patient with breast
           cancer on tamoxifen
    • Authors: Qadir, D; Chua, M, Sulaiman, S.
      Abstract: Tamoxifen is a selective oestrogen receptor modulator widely used in breast cancer treatment, with good survival rates. Its partial agonist action on other tissues such as the uterus, however, promotes the development of endometrial hyperplasia and cancer. It appears that tamoxifen does not alter the age of menopause and women may still get pregnant while on tamoxifen. We present the case of a 47-year-old Chinese woman with breast cancer on tamoxifen, who presented with one episode of heavy per vaginal bleeding after 2 years of amenorrhoea. Her urine pregnancy test was negative and the ultrasound scan was suspicious for malignancy. She underwent a hysteroscopic evaluation for abnormal bleeding on tamoxifen. Histopathology confirmed products of conception. This case illustrates the importance of understanding the rise and decline of human chorionic gonadotropin in pregnancy, as well as the pivotal role of contraception despite having amenorrhoea on tamoxifen.
      Keywords: Obstetrics, gynaecology and fertility, Obstetrics and gynaecology, Oncology, Unusual presentation of more common disease/injury, Drugs and medicines, Cancer -see Oncology, Pregnancy, Breast cancer
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-230635
      Issue No: Vol. 12, No. 8 (2019)
       
  • Thymoma associated paraneoplastic encephalitis (TAPE), a potential cause
           of limbic encephalitis
    • Authors: Liu, H; Edson, R. S.
      Abstract: A 59-year-old man presents with expressive aphasia and short term memory deficits. Shortly thereafter, he started developing staring spells and intermittent right hand spasms, preliminarily thought to be simple partial seizures. Subsequent MRI brain imaging was highly suggestive of herpes simplex virus (HSV) encephalitis; however, HSV PCR from cerebrospinal fluid was negative. On further testing, the patient was found to have an autoimmune encephalitis thought to be related to an incidentally found thymoma. His clinical presentation, in conjunction with imaging and response to therapy, was strongly suggestive of thymoma associated paraneoplastic encephalitis. Early recognition is the only way to ensure prompt initiation of appropriate treatment. Immunotherapy and cancer directed therapy (including tumour resection, if indicated) have been shown to have favourable outcomes, improved speed of neurological recovery and reduced risk of relapses. Without treatment, progressive neurologic deterioration can occur over months to years, eventually resulting in death.
      Keywords: Infectious diseases, Oncology, Open access, Rare disease, General practice / family medicine, Immunology (including allergy), Meningitis, Neurology
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-230709
      Issue No: Vol. 12, No. 8 (2019)
       
  • Duplication of 1q31.3q41 in two affected siblings due to paternal
           insertional translocation
    • Authors: Sihombing, N. R. B; de Leeuw, N, van Bokhoven, H, Faradz, S. M.
      Abstract: We report two sisters with developmental delay and dysmorphic features, as well as a history of seizures. Both sisters have short stature, microcephaly and shared facial dysmorphisms. We detected an 18.1 Mb interstitial gain in 1q31.3q41 and a 140 kb interstitial loss in 7p11.2 in both siblings by using array analysis in the older sister and copy number variation analysis in whole exome sequencing data in the younger sister. We further examined parental chromosomes and found an insertional translocation in the unaffected father, having a 46,XY,ins(7;1)(p11.2;q31.3q41) karyotype. A 1.8 Mb loss at the rearranged 1q segment was subsequently detected on additional array analysis in the father, as well as the 140 kb loss in 7p11.2. We describe the clinical consequences of the 18.1 Mb duplication of the long arm of chromosome 1 due to an unbalanced paternal insertional translocation and compare these with the clinical phenotypes of patients with an overlapping 1q duplication.
      Keywords: Paediatrics, Rare disease, Genetics, Congenital disorders
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-230941
      Issue No: Vol. 12, No. 8 (2019)
       
  • Blepharitis: a rare side effect related to cetuximab in patient with
           colorectal cancer
    • Authors: Manthri, S; Chakraborty, K.
      Keywords: Eye, Oncology, Images in..., Drugs and medicines, Colon cancer, Ophthalmology
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-231774
      Issue No: Vol. 12, No. 8 (2019)
       
  • 'Bony heart
    • Authors: Mirijello, A; Curci, S, DErrico, M. M, De Cosmo, S.
      Keywords: Cardiovascular medicine, Images in..., Heart failure, Interventional cardiology, Radiology (diagnostics)
      PubDate: 2019-08-30T23:15:24-07:00
      DOI: 10.1136/bcr-2019-231793
      Issue No: Vol. 12, No. 8 (2019)
       
  • Leucocyte adhesion defect presenting as fulminant sepsis in a new born
    • Authors: Gupta, V; Pandita, A, Panghal, A, Pillai, A.
      Abstract: We present a term neonate with severe sepsis, presenting on day 10 of life. The neonate presented with bilateral purulent eye discharge and hepatosplenomegaly. On investigation, persistent leucocytosis was observed and thus the possibility of leucocyte adhesion defect was considered. Flow cytometry confirmed the diagnosis.
      Keywords: Paediatrics, Reminder of important clinical lesson, Infant health, Materno-fetal medicine, Neonatal and paediatric intensive care, Neonatal health
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2018-227065
      Issue No: Vol. 12, No. 8 (2019)
       
  • Clozapine-induced stercoral colitis: a surgical perspective
    • Authors: George, J; Hotham, R, Melton, W, Chapple, K.
      Abstract: We describe a case of a 46-year-old man with schizophrenia treated with clozapine who presented as an emergency with abdominal pain on the background of a 1 month history of constipation. The initial presenting symptoms were vague and a diagnosis was difficult to establish. Initial CT of the abdomen and pelvis demonstrated only minor abnormalities. He continued to deteriorate until a further CT scan revealed worsening stercoral colitis. He subsequently underwent an emergency total colectomy and ileostomy formation and had a complicated prolonged postoperative recovery. This case highlights the risks that clozapine can have on slowing bowel transit and the dangerous consequences that can occur if not identified early.
      Keywords: Psychiatry, Surgery, Rare disease, Drugs: psychiatry, Psychotic disorders (incl schizophrenia), Schizophrenia spectrum, Gastrointestinal surgery
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2018-227718
      Issue No: Vol. 12, No. 8 (2019)
       
  • Novel clinical phenotype of generalised lymphatic dysplasia in a neonate:
           a missed diagnosis
    • Authors: Abiramalatha, T; Johnson, T, Balakrishnan, U, Amboiram, P.
      Abstract: We report a preterm neonate who had a large cervical cystic hygroma and right chylothorax. She was operated on day-21 and a near-complete resection of cystic hygroma was done. She developed refractory hypoxemia and shock post surgery and died after 24 hours. During autopsy, the chest cavity was found to be filled with chyle. Histopathological examination showed dilated lymphatics in the pleura, hepatic capsule, serosa of stomach and intestines, peri-pancreatic regions, peri-renal capsule and peri-adrenal tissues suggestive of generalised lymphatic dysplasia. Clinical exome sequencing did not reveal any pathogenic mutation in the genes involved in primary lymphatic dysplasia, noonan syndrome or rasopathies.
      Keywords: Intensive care, Paediatrics, Surgery, Learning from errors, Congenital disorders, Neonatal health, Neonatal intensive care
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-229260
      Issue No: Vol. 12, No. 8 (2019)
       
  • Confusion, dissociation and bizarre behaviour as the onset of an early
           Susac syndrome
    • Authors: Perez-Lombardo, M; Alberdi-Paramo, I, Ramos-Barragan, B, Gimeno-Alvarez, D.
      Abstract: A 47-year-old woman presented an episode of confusion and disorientation. According to remarkable psychiatric records, she had been treated for major depression and obsessive-compulsive disorder; however, no other relevant background was known. After preliminary examinations, blood analysis and neurological tests were unspecific and inconclusive. Therefore, the case was treated as a possible psychiatric episode related to her previous psychiatric disorders. However, due to the atypical presentation of the case, a cerebral MRI was performed, which demonstrated multiple central lesions of the corpus callosum (‘snowball lesions’), as well as several supratentorial white matter lesions. As a result of the follow-up of the case, sensorineural hearing loss and branch retinal artery were detected, which concluded in the classic triad and the confirmation of the diagnosis of a Susac syndrome.
      Keywords: Psychiatry, Rare disease, Neurology, Brain stem / cerebellum, Neuroimaging
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-229422
      Issue No: Vol. 12, No. 8 (2019)
       
  • Unique association of multiple endocrine neoplasia 2A and congenital
           anomalies of the kidney and urinary tract in a child with a RET mutation
    • Authors: Wood, O. R; Else, T, Sampson, M. G.
      Abstract: Pathogenic variants in the RET gene can cause isolated and multi-system diseases. We report a patient diagnosed prenatally with unilateral multicystic dysplastic kidney and genitourinary abnormality whose mother had multiple endocrine neoplasia type 2A (MEN2A). Targeted RET sequencing found the same pathogenic variant p.C618S in the child as her mother. The child is followed by paediatric nephrology for congenital anomalies of the kidney and urinary tract (CAKUT) and by endocrine oncology for surveillance for MEN2A-related endocrine tumours. While implicated in each of these conditions individually, RET variants have never been reported to cause MEN2A and CAKUT together. This child’s family history prompted RET sequencing, resulting in presymptomatic, personalised care for MEN2A. However, this case supports the idea that genetic screening of RET (and many other genes) in patients with CAKUT may lead to molecular diagnoses that potentially improve their health through precision care.
      Keywords: Oncology, Paediatrics, Rare disease, Genetics, Genetic screening / counselling, Endocrine cancer, Congenital disorders, Renal medicine
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-229904
      Issue No: Vol. 12, No. 8 (2019)
       
  • High-risk squamous cell carcinoma and its impact on a 62-year-old male
           surgeon
    • Authors: Jubran, J; Sengelmann, R. D.
      Abstract: Cutaneous squamous cell carcinoma (cSCC) is a form of non-melanoma skin cancer responsible for more deaths in the USA than all other skin cancers combined. Some features, including anatomic site, are considered high risk in nature and pose a challenge for complete tumour removal. We present a case of a 62-year-old male surgeon with a multiply recurrent cSCC of the right conchal bowl. The tumour described herein was doubly recurrent to excision with a standard margin and could ultimately not be cleared with Mohs micrographic surgery. Ultimately, it necessitated auriculectomy and parotidectomy. This case exemplifies the pitfalls of traditional wide local excision with standard pathologic processing for high-risk cSCC.
      Keywords: Oncology, Surgery, Healthcare improvement and patient safety, Reminder of important clinical lesson, Skin cancer, Dermatology, Surgical oncology
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-229940
      Issue No: Vol. 12, No. 8 (2019)
       
  • Systemic mastocytosis: variable manifestations can lead to a challenging
           diagnostic process
    • Authors: Nallamilli, S; ONeill, A, Wilson, A, Sekhar, M, Lambert, J.
      Abstract: Systemic mastocytosis results from proliferation and activation of an abnormal mast cell clone. It is a heterogeneous disorder with clinical manifestations ranging from skin lesions alone to aggressive multi-organ infiltration and decreased survival. Given these varied manifestations, diagnosis can be difficult. We describe the case of a woman who presented with rash and diarrhoea and had a history of anaphylactic reactions. Over a protracted period, the patient’s symptoms were investigated by a number of specialties including gastroenterology, dermatology, immunology and haematology. Morphological, immunohistochemical and molecular analysis of bone marrow samples ultimately led to a diagnosis of systemic mastocytosis. Management with leukotriene and histamine antagonists resulted in significant improvement in symptoms and quality of life. The case serves to highlight the protean manifestations of systemic mastocytosis, the tests available to diagnose it and the agents available to treat it.
      Keywords: Gastrointestinal system, Skin, Reminder of important clinical lesson, Drugs and medicines, Haematology (incl blood transfusion)
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-229967
      Issue No: Vol. 12, No. 8 (2019)
       
  • Importance of screening in physical therapy: vertebral fracture of
           thoracolumbar junction in a recreational runner
    • Authors: Maselli, F; Rossettini, G, Viceconti, A, Testa, M.
      Abstract: Running is one of the most popular sports worldwide. Studies suggest that 11%–85% of recreational runners have at least one running-related injury (RRI) each year, resulting in a reduction or interruption in training. A high risk for running-related injuries (RRIs) represents an important inconvenience counterbalancing the beneficial effects of running. RRIs primarily affect the joints of the lower limb and lumbar spine. Noteworthy, in some cases, the clinical presentation of signs and symptoms is confusing and may hide serious conditions; thus, clinicians have to pay special attention when potential factors arise, such as the presence of red flags. As reported in this case report, patients can present with low back pain (LBP) as a primary problem, mimicking a red flag such as a fracture of the spine. The aim of this case report was to describe a case of a recreational runner presenting with LBP as the sole symptom of an underlying thoracolumbar fracture.
      Keywords: Rehabilitation medicine, Surgery, Learning from errors, Physiotherapy, Sports and exercise medicine, Physiotherapy, Orthopaedic and trauma surgery, Occupational and environmental medicine, Back pain
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-229987
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rare case of implantable cardioverter defibrillator infection caused by
           Stenotrophomonas maltophilia and Pantoea calida
    • Authors: Ajam, M; Shokr, M, Ajam, F, Lieberman, R.
      Abstract: Despite the numerous advancements in cardiac implantable electronic defibrillator (CIED) designs and implantation techniques, device-related infections continue to represent significant morbidity and mortality. Although Gram-positive bacteria remain the most commonly reported organisms, various other bacterial families have been reported. We describe a 61-year-old patient with a history of non-ischaemic cardiomyopathy who presented with implantable cardioverter defibrillator pocket infection due to Stenotrophomonas maltophilia and Pantoea calida that developed a few days following the device generator replacement. Early device explantation, tissue sampling and initiation of sensitivity-directed antibiotics are necessary steps for early diagnosis and management of such CIED-related infections. S. maltophilia and P. calida should be added to the expanding list of the causative organisms behind CIED-related infections. Our case and available literature demonstrated excellent sensitivity of these two organisms to sulfamethoxazole-trimethoprim treatment.
      Keywords: Cardiovascular medicine, Infectious diseases, Rare disease, Pacing and electrophysiology
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-230506
      Issue No: Vol. 12, No. 8 (2019)
       
  • Initiation of levothyroxine in a patient with hypothyroidism inducing
           adrenal crisis requiring VA ECMO: a tale of preventable disaster
    • Authors: Kang, M. S; Sandhu, C. S, Singh, N, Evans, T.
      Abstract: A 31-year-old man with a recent diagnosis of hypothyroidism presented to the emergency department as a transfer from the clinic for severe hypotension and hypoglycaemia. The patient endorsed a 2-week history of severe fatigue, weight loss, nausea and non-bloody emesis. He was aggressively hydrated and vasopressors were initiated. Despite these measures, the patient remained hypotensive and went into pulseless electrical activity. Return of spontaneous circulation was achieved via advanced cardiac life support protocol, and venous arterial extracorporeal membrane oxygenation (ECMO) was initiated. On day 3 of hospitalisation, the patient was weaned off ECMO support, and subsequent autoimmune work-up confirmed the diagnosis of autoimmune polyglandular syndrome type 2 with positive antiperoxidase antibodies (267 IU/mL), supporting the diagnosis of Hashimoto’s thyroiditis.
      Keywords: Intensive care, General guidance on prescribing, Emergency medicine, Endocrinology, Medical management, Reminder of important clinical lesson, Drugs and medicines, Adult intensive care, Resuscitation
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-230601
      Issue No: Vol. 12, No. 8 (2019)
       
  • Multidrug-resistant tuberculosis (MDR-TB) and multidrug-resistant HIV
           (MDR-HIV) syndemic: challenges in resource limited setting
    • Authors: Francisco, C; Lansang, M. A, Salvana, E. M, Leyritana, K.
      Abstract: Tuberculosis (TB) is common among persons living with HIV. This public health concern is aggravated by infection with multidrug-resistant organisms and adverse effects of polypharmacy. There are few published cases of multidrug-resistant tuberculosis (MDR-TB) in multidrug-resistant HIV (MDR-HIV) infected patients. We report a case of a 29-year-old Filipino man with HIV on zidovudine (AZT)-containing antiretroviral therapy (ART) but was eventually shifted to tenofovir due to anaemia. He presented with left flank tenderness, which was found to be due to an MDR-TB psoas abscess, and for which second-line anti-TB treatment was started. HIV genotyping showed MDR-HIV infection susceptible only to AZT, protease inhibitors and integrase inhibitors. Subsequently, he developed neck abscess that grew Mycobacterium avium complex and was treated with ethambutol and azithromycin. ART regimen was revised to AZT plus lamivudine and lopinavir/ritonavir. Erythropoietin was administered for recurrent AZT-induced anaemia. Both abscesses resolved and no recurrence of anaemia was noted.
      Keywords: Infectious diseases, Open access, Reminder of important clinical lesson, Pharmacology and therapeutics, HIV/AIDS, TB and other respiratory infections, Unwanted effects / adverse reactions
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-230628
      Issue No: Vol. 12, No. 8 (2019)
       
  • Recurrent colonic intussusception due to a lipoma of the transverse colon
           at the background of congenital dolichocolon and chronic constipation
    • Authors: Siamionava, Y; Varabei, A, Makhmudov, A.
      Abstract: Colonic intussusception caused by benign tumour in adults is uncommon condition. Lipoma as benign tumour arises from submucosal layer of gastrointestinal tract and derives from mature adypocytes. It is usually small asymptomatic lesion and reveals during colonoscopy, CT, surgery or autopsy accidentally. However, in cases with large size it may cause abdominal pain, constipation, diarrhoea, anaemia, bleeding or intussusceptions. We present a 52-year-old female patient with colonic intussusception caused by lipoma of the transverse colon and with congenital dolichocolon. The patient had several episodes of bowel obstructions which were treated conservatively. We performed elective open extended right hemicolectomy, ileotransversostomy end-to-end.
      Keywords: Endoscopy, Gastrointestinal system, Gastroenterology, Oncology, Rare disease, Drugs and medicines, Colon cancer, Radiology
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-230732
      Issue No: Vol. 12, No. 8 (2019)
       
  • Calciphylaxis due to metastatic well-differentiated neuroendocrine
           carcinoma
    • Authors: Afridi, S. M; Raja, A, Zhou, X, Jain, A.
      Abstract: A 70-year-old man with history of metastatic well-differentiated neuroendocrine carcinoma was presented to the hospital with a painful left lower extremity ulcer which started around 3 months prior to presentation. He was treated with antibiotics for cellulitis on multiple occasions with no improvement in his symptoms. On initial laboratory evaluation, he was found to have acute kidney injury and a normal calcium level. The patient underwent a skin biopsy and was found to have cellulitis and calciphylaxis of small-sized and medium-sized vessels. Since the patient did not have any underlying risk factors of calciphylaxis, the most likely cause of his calciphylaxis was thought to be his underlying malignancy. Physicians should keep this differential in mind while treating non-healing ulcers in such patients since they are at higher risk of superimposed infections and usually require aggressive wound care.
      Keywords: Infections, Skin, Oncology, Unusual association of diseases/symptoms, Drugs and medicines, Endocrine cancer, Dermatology
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-230951
      Issue No: Vol. 12, No. 8 (2019)
       
  • Direct puncture of the V3 segment of the vertebral artery in acute basilar
           artery stroke: an alternative approach in desperate circumstances
    • Authors: OReilly, S. T; Rennie, I, McIlmoyle, J, Smyth, G.
      Abstract: A patient in his mid-40s presented with acute basilar artery thrombosis 7 hours postsymptom onset. Initial attempts to perform mechanical thrombectomy (MT) via the femoral and radial arterial approaches were unsuccessful as the left vertebral artery (VA) was occluded at its origin and the right VA terminated in the posterior inferior cerebellar artery territory, without contribution to the basilar system. MT was thus performed following ultrasound-guided direct arterial puncture of the left VA in its V3 segment, with antegrade advancement of a 4 French radial access sheath. First pass thrombolyisis in cerebral infarction (TICI) 3 recanalisation achieved with a 6 mm Solitaire stent retriever and concurrent aspiration on the 4 French sheath. Vertebral closure achieved with manual compression.
      Keywords: Novel treatment (new drug/intervention; established drug/procedure in new situation), Neurology, Stroke
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-231335
      Issue No: Vol. 12, No. 8 (2019)
       
  • Milk-induced hypertriglyceridaemia and acute pancreatitis after
           discontinuation of treatment for type 2 diabetes and hyperlipidaemia
    • Authors: Jain, N. G; Hargreaves, A.
      Abstract: A 39-year-old man with a background of type 2 diabetes mellitus presented with extreme hypertriglyceridaemia (114.4 mmol/L) and acute pancreatitis, attributed to excessive dairy intake. At his peak, he was drinking up to 6 pints of full fat milk a day. He was treated with an insulin regimen and was counselled on the danger his diet posed to his health. He recovered well, but this case highlights the impact that dietary and lifestyle factors can have on health, sometimes with life-threatening results.
      Keywords: Endocrinology, Gastroenterology, Nutrition and metabolism, Pancreatitis, Unusual presentation of more common disease/injury, Diet, Diabetes, Lipid disorders
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-231562
      Issue No: Vol. 12, No. 8 (2019)
       
  • Apocrine hidrocystoma with telangienctasia: an atypical finding
    • Authors: Vijitha, V. S; Kapoor, A. G, Mishra, D. K.
      Keywords: Eye, Surgery, Images in..., Drugs and medicines, Plastic and reconstructive surgery, Surgical oncology
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-231572
      Issue No: Vol. 12, No. 8 (2019)
       
  • Isolated right subclavian artery with atrioventricular septal defect: a
           rare association
    • Authors: Shaw, M; Sharma, A, Rajagopal, R, Kumar, S.
      Keywords: Cardiovascular system, Images in..., Drugs and medicines, Interventional cardiology, Radiology (diagnostics)
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-231790
      Issue No: Vol. 12, No. 8 (2019)
       
  • Facial papules and lung cysts: a case of Birt-Hogg-Dube syndrome
    • Authors: Griffiths, P; Bull, A.
      Keywords: Oncology, Images in..., Genetics, Urological cancer, Respiratory medicine, Dermatology
      PubDate: 2019-08-30T00:05:33-07:00
      DOI: 10.1136/bcr-2019-232083
      Issue No: Vol. 12, No. 8 (2019)
       
  • Haemolytic anaemia precipitated by dengue fever
    • Authors: Abdullah, N. H; Mohammad, N, Ramli, M, Wan Ghazali, W. S.
      Abstract: We reported a case of a woman with no past medical illness who presented with a few days’ history of fever, myalgia, arthralgia, hypochromic microcytic anaemia and thrombocytopaenia and who was nonstructural protein 1 antigen (NS1Ag)-positive. Haemolytic anaemia including full blood picture work-up revealed high reticulocyte count and haemolysis with positive direct Coombs test. She was started on prednisolone and was discharged well.
      Keywords: Infectious diseases, Unusual association of diseases/symptoms, Haematology (incl blood transfusion), Tropical medicine (infectious diseases)
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2018-226760
      Issue No: Vol. 12, No. 8 (2019)
       
  • Tube-ovarian abscess caused by Rothia aeria
    • Authors: Taira, Y; Aoki, Y.
      Abstract: Rothia aeria is a gram-positive amorphous bacillus and was discovered in the Russian space station ‘Mir’ in 1997. It shows phylogenetic similarity to Actinomyces israelii, and as determined using 16 s ribosomal RNA gene analysis R. aeria is classified as a bacteria of the genus Actinomyces. It was found to colonise in the human oral cavity, and there are some infectious reports but none specifies gynaecological infection. A 57-year-old woman, who had been continuously using intrauterine contraceptive device, presented with fever and lower abdominal pain. She was suspected tube-ovarian abscess caused by A. israelii, but the uterine cavity culture revealed R. aeria infection. Considering surgical treatment, conservative treatment by intravenous benzylpenicillin and subsequently oral ampicillin for 6 months improved the abscess, and she has no recurrence for over 1 year.
      Keywords: Obstetrics, gynaecology and fertility, Obstetrics and gynaecology, Open access, Unusual presentation of more common disease/injury, Drugs and medicines, Drugs: obstetrics and gynaecology, Sexual health, Pelvic inflammatory disease
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2018-229017
      Issue No: Vol. 12, No. 8 (2019)
       
  • Methicillin-resistant Staphylococcus aureus (MRSA) sepsis complicated by
           warm autoimmune haemolytic anaemia secondary to antimicrobial therapy
    • Authors: Verdecia, J; Hernandez, J, Izzo, C, Sottile, E, Isache, C.
      Abstract: A 61-year-old Caucasian woman presented to the emergency room complaining of left-sided chest pain and altered mentation for 3 days. Her medical history included liver cirrhosis and coronary artery disease. On admission, she was found to have methicillin-resistant Staphylococcus aureus (MRSA) bacteraemia. Due to a decline in mental status, a lumbar puncture was performed and cerebrospinal fluid cultures grew MRSA. She was treated initially with vancomycin. Ceftaroline was later added, due to the high burden of disease and difficulty in clearing her infection. After initiation of ceftaroline, bacteraemia cleared and mental status improved, however, she developed haemolytic anaemia. Ceftaroline was stopped and vancomycin continued. Staphylococcal meningitis is a rare occurrence, estimated at a rate of only 1%–10% of all bacterial meningitis cases. Ceftaroline seems to be a suitable option for disseminated MRSA infection, including MRSA meningitis, when the clinical response to vancomycin is inadequate. Further studies are warranted in order to establish adequate dosing while avoiding adverse effects.
      Keywords: Infections, Infectious diseases, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Pharmacology and therapeutics, Drugs: infectious diseases, Meningitis, Pneumonia (infectious disease), Unwanted effects
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2018-229114
      Issue No: Vol. 12, No. 8 (2019)
       
  • Multiple asymptomatic vascular air embolisms following contrast-enhanced
           CT scan
    • Authors: Zulkifle, A. M; Faisal, M.
      Abstract: Vascular air embolism (VAE) is a known complication of contrast-enhanced CT (CECT) scan occurring in venous or arterial circulation with a wide spectrum of presentations. We report a case of a 44-year-old woman with endometrial adenocarcinoma stage IVB complicated with liver abscess and pulmonary embolism who developed VAE following a routine CECT scan after the sixth cycle of chemotherapy. This was an incidental finding and the patient remained asymptomatic throughout. As such, she was treated conservatively and gradually recovered. This case report serves as a reminder that VAE should be considered in patients presenting with unexplained symptoms following this procedure.
      Keywords: Reminder of important clinical lesson, Radiology, Respiratory medicine
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2018-229169
      Issue No: Vol. 12, No. 8 (2019)
       
  • Infective endocarditis due to Granulicatella elegans presenting with
           musculoskeletal symptoms
    • Authors: Farid, S; Esquer Garrigos, Z, Sohail, M. R.
      Abstract: A 62-year-old man with essential hypertension and right L4-L5 hemilaminectomy was referred to rheumatology for evaluation of severe arthralgia and myalgia for 12 months. Review of symptoms was significant for night sweats and 20 pounds unintentional weight loss. Physical examination was significant for holosystolic murmur best heard at the cardiac apex of unclear chronicity. Laboratory investigations revealed elevated inflammatory markers, white blood cell count and B-type natriuretic peptide. Transoesophageal echocardiogram showed flail posterior mitral leaflet with severe mitral regurgitation and two vegetations (2.5x1 cm and 1.6x0.3 cm). Abdominal CT showed new focal splenic infarcts, and a brain MRI revealed subacute infarcts, consistent with the embolic phenomenon. Blood cultures grew Granulicatella elegans. The patient underwent mitral valve replacement surgery followed by 6 weeks of parenteral therapy with vancomycin and gentamicin, with full recovery at a 3-month follow-up.
      Keywords: Cardiovascular medicine, Infections, Infectious diseases, Unusual association of diseases/symptoms, Drugs and medicines, Valvar diseases
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-229294
      Issue No: Vol. 12, No. 8 (2019)
       
  • Ossifying fibromyxoid tumor: a rare case
    • Authors: Umer, M; Saeed, J, Ud Din, N, Hilal, K.
      Abstract: Ossifying fibromyxoid tumour (OFMT) is a rarely occurring soft tissue neoplasm of mesenchymal origin. It is a rarely found tumour with intermediate behaviour and differentiation. Although it is mostly benign, malignant variants also exist. We are presenting a case of 32-year-old man presented in clinic with complaints of painless swelling in left distal thigh. After reviewing his X-ray, a diagnostic biopsy was planned which came out to be suspicious of solitary fibrous tumour. Other radiological workup was done and the patient was planned to undergo wide margin excision. The final histopathology showed a diagnosis of OFMT of soft tissue, atypical variant. The patient is under follow-up and is disease free. This type of tumour possesses potential of local recurrence and metastases; therefore, it is important to keep a long-term follow-up of patient.
      Keywords: Surgery, Rare disease, Surgical oncology
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-229371
      Issue No: Vol. 12, No. 8 (2019)
       
  • Association of Sjögrens syndrome with myotonic dystrophy type 1
    • Authors: Kitsis, E. A; Napier, F, Juthani, V, Geyer, H. L.
      Abstract: A 47-year-old woman presented with sicca symptoms, polyarthralgias, polymyalgias and dysphagia. She was found to have positive antinuclear, anti-SSA-Ro and anti-SSB-La antibodies. Slit lamp exam confirmed the presence of keratoconjunctivitis sicca, and the patient was diagnosed with Sjögren’s syndrome. Three years later, she was referred for evaluation of gait instability associated with recent falls. On physical examination, the patient was found to have bilateral ptosis, percussion myotonia, distal upper and lower extremity weakness, and a steppage gait. Electromyography demonstrated electrical myotonia. Genetic testing revealed expanded CTG repeats (733 and 533) in the myotonic dystrophy type 1 (DM1) protein kinase gene, confirming the diagnosis of DM1. Dysphagia, pain and eye discomfort may occur in both Sjögren’s syndrome and DM1, and in this case, may have delayed the diagnosis of muscular dystrophy.
      Keywords: Unusual association of diseases/symptoms, Neurology, Muscle disease, Ophthalmology, Rheumatology, Sjogren's syndrome
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-229611
      Issue No: Vol. 12, No. 8 (2019)
       
  • 'Acute micro-coronary syndrome: detailed coronary physiology in a patient
           with Takotsubo cardiomyopathy
    • Authors: Morrow, A. J; Nordin, S, OBoyle, P, Berry, C.
      Abstract: Takotsubo cardiomyopathy (TC), otherwise known as stress cardiomyopathy, is characterised by acute, transient left ventricular systolic dysfunction with apical ballooning in the absence of obstructive epicardial coronary stenosis. The presentation of TC mimics that of acute myocardial infarction. More recently there has been a shift towards thinking of TC as a ‘microvascular acute coronary syndrome’. Our case is of an 82-year-old woman who presented with TC mimicking acute anterior ST elevation myocardial infarction in the context of sepsis. Slow flow noted in the left anterior descending artery prompted us to perform coronary physiology. Her fractional flow reserve was 0.91, with an index of myocardial resistance of 117 and a coronary flow reserve of 1.6. In combination these results are indicative of microvascular coronary dysfunction in the absence of significant epicardial stenosis.
      Keywords: Cardiovascular medicine, Open access, Novel diagnostic procedure, Heart failure, Ischaemic heart disease
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-229618
      Issue No: Vol. 12, No. 8 (2019)
       
  • Deep infection with Mycobacterium marinum: successful treatment of a
           frequently misdiagnosed disease
    • Authors: Pop, R; Estermann, L, Schulthess, B, Eberhard, N.
      Abstract: We report a rare yet typical presentation of a severe infection with Mycobacterium marinum that affected the deep structure of the hand and wrist of a 43-old fish breeder. A combination therapy of surgical debridement and antibiotic treatment with clarithromycin and ethambutol for 6 months led to a total resolution of the symptoms. Intensive rehabilitation completely restored the function of the hand.
      Keywords: Infections, Infectious diseases, Rare disease, Drugs and medicines, Bone and joint infections, Drugs: infectious diseases, Radiology
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-229663
      Issue No: Vol. 12, No. 8 (2019)
       
  • Forgotten pathogen: tetanus after gastrointestinal surgery
    • Authors: Strypstein, S; Claeys, S, Smet, B, Pattyn, P.
      Abstract: A previously healthy 79-year-old woman underwent an urgent laparotomy and resection of a strangulated loop of small bowel. On the second postoperative day, she developed symptoms suspicious for postoperative tetanus. A transfer to the intensive care unit was necessary for aggressive supportive therapy. The patient required 5 months of intensive physiotherapy and rehabilitation and was successfully discharged home. New cases of tetanus have become rare in developed countries. This potentially lethal disease affects both non-immunised and inadequately immunised patients. The occurrence of tetanus after gastrointestinal surgery is extremely rare. Prevention is key and can be achieved with correct immunoprophylaxis. Older patients are often inadequately immunised. Should tetanus immunoprophylaxis routinely be checked for elderly patients undergoing gastrointestinal surgery' Or can we limit the immunisation to severe cases of ischaemic bowel injury with necrosis and/or soiling of the abdominal cavity'
      Keywords: Infectious diseases, Surgery, Healthcare improvement and patient safety, Rare disease, Vaccination / immunisation, Gastrointestinal surgery
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-229701
      Issue No: Vol. 12, No. 8 (2019)
       
  • Arteriovenous fistula and high output cardiac failure in a double lung
           transplant patient
    • Authors: Bennitz, J; Simons, M, Lorello, G. R.
      Abstract: We present a case of a high cardiac output (CO) arteriovenous fistula (AVF) with pulmonary hypertension (PH) post-double lung transplant presenting for AVF occlusion. The patient presented with a CO of 9.83 L/min, pulmonary artery pressures of 64/16, inferior vena cava dilatation and an AVF between the left common iliac artery and vein. Given her anaesthetic considerations, we elected to proceed with local anaesthesia and sedation. Trial balloon occlusion resulted in an increase in blood pressure and a headache that resolved with balloon deflation. Successful final occlusion with an endovascular stent was completed without adverse events. PH is a complex pathophysiology with the potential for catastrophic decompensation. Anaesthesiologists must consider a patient’s comorbidities and the procedure to safely administer anaesthesia without complications.
      Keywords: Anaesthesia, Cardiovascular medicine, Surgery, Reminder of important clinical lesson, Respiratory medicine, Pulmonary hypertension, Transplantation
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-229776
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rare case of paraneoplastic cerebellar degeneration secondary to
           high-grade serous carcinoma of tubo-ovarian origin
    • Authors: Butt, E; Tadross, J. A, Chadda, K. R, Latimer, J.
      Abstract: This case describes a 69-year-old woman, who presented with rapidly progressive cerebellar symptoms and unintentional weight loss. Full neurological assessment excluded space-occupying lesions, vascular accidents and infection. Surprisingly, a chest, abdomen and pelvis CT showed a left hemipelvis mass, which was subsequently biopsied. A high-grade serous carcinoma of tubo-ovarian origin was found, diagnosing paraneoplastic cerebellar degeneration (PCD) secondary to this. The exact mechanism is not known, but is thought to be immune-mediated. In cases of PCD, after cancer treatment, the neurological disability stabilises to a severe level and will unfortunately be lifelong. Our patient continues to make great progress with intensive rehabilitation for her ongoing balance issues. Early recognition of PCD can lead to a prompt diagnosis of the underlying malignancy and hence subsequent management. This can at least limit the extent of the neurological disability of the disease and increase the survival rate from cancer.
      Keywords: Cancer - see Oncology, Obstetrics, gynaecology and fertility, Obstetrics and gynaecology, Oncology, Unusual association of diseases/symptoms, Drugs and medicines, Neurology, Brain stem / cerebellum, Gynecological cancer
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-229777
      Issue No: Vol. 12, No. 8 (2019)
       
  • Melkersson-Rosenthal syndrome with coeliac and allergic diseases
    • Authors: Martins, J. A; Azenha, A, Almeida, R, Pinheiro, J. P.
      Abstract: A 45-year-old man presented with a 10-year history of relapsing oedema of the lips. Moreover, he exhibited recurrent facial nerve palsy since the age of 10 years, coeliac disease since the age of 12 years, atopic eczema, allergic rhinitis and asthma. Physical examination revealed lip swelling and lingua plicata. Thus, he presented the classic triad of Melkersson-Rosenthal syndrome which includes recurrent orofacial oedema, facial nerve palsy and fissured tongue. A lip biopsy confirmed our clinical diagnosis.This case is particularly rare, as the classic triad is seen only in a minority of the cases. Moreover, allergic and coeliac diseases were observed concomitantly. This paper illustrates a potential pathophysiological interconnection between these pathologies in which interferon gamma could play a key role. To our knowledge, this is the first case report in which Melkersson-Rosenthal syndrome has been observed concurrently with coeliac disease.
      Keywords: Gastroenterology, Small intestine, Coeliac disease, Unusual association of diseases/symptoms, Neurology, Cranial nerves, Pathology, Occupational and environmental medicine, Allergy, asthma
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-229857
      Issue No: Vol. 12, No. 8 (2019)
       
  • Management and clinical outcome of concomitant pulmonary embolism and
           paradoxical saddle aortic arch embolism
    • Authors: Mancuso, E; Winterbottom, A. P, Boyle, J. R, Hildebrand, D. R.
      Abstract: A 65-year-old man presented in a peri-arrest situation after collapse, he was found hypoxic with ischaemic arms. CT imaging showed massive bilateral pulmonary embolisms (PEs) and an aortic arch embolus extending from brachiocephalic trunk to left subclavian artery. Following intravenous thrombolysis, repeat imaging revealed that the aortic embolus had migrated distally into both axillary arteries and had occluded the right carotid from origin to skull base. Bilateral upper limb embolectomies were carried out from the brachial arteries together with forearm fasciotomies. Left hemianopia related to a right middle cerebral artery territory infarct was managed conservatively; forearm fasciotomy wounds were primarily closed and the patient was discharged on lifelong anticoagulation. A transoesophageal echocardiogram revealed a patent foramen ovale. This case demonstrates a very unusual presentation of concomitant PE and paradoxical saddle aortic arch embolism. A multidisciplinary approach has resulted in an excellent clinical outcome for this complex patient.
      Keywords: Intensive care, Surgery, Unusual presentation of more common disease/injury, Neurology, Stroke, Radiology, Adult intensive care, Respiratory medicine, Pulmonary embolism, Vascular surgery
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230024
      Issue No: Vol. 12, No. 8 (2019)
       
  • Variant ascending pharyngeal artery maintaining flow in a subocclusive
           internal carotid artery
    • Authors: Kim, B. D; Oxley, T. J, Fifi, J. T, Shoirah, H.
      Abstract: Ectopic branches of the external carotid artery are rare but have critical diagnostic and therapeutic implications. We present a case involving a 70-year-old man who presented with recurrent left hemispheric strokes in the setting of a subocclusive left internal carotid stenosis. A left ascending pharyngeal artery with variant origin from the internal carotid artery helped maintain flow distal to the area of stenosis and allowed for safe and successful internal carotid artery stenting. Identification of this variant and recognition of the anastomotic network involving this connection were crucial to determine the safety of stenting. The patient had no further recurrent events and had sustained improvement on his 90-day follow-up.
      Keywords: Surgery, Unusual presentation of more common disease/injury, Neurology, Neuroimaging, Stroke, Neurosurgery
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230048
      Issue No: Vol. 12, No. 8 (2019)
       
  • Enterococcus casseliflavus, Streptococcus equinus and Klebsiella oxytoca
           septicaemia associated with perinephric haematoma in a post-liver
           transplant patient with allograft cirrhosis
    • Authors: Heda, R. P; Savage, Y, Nair, S. P, Verma, R.
      Abstract: Liver transplant recipients are immunocompromised by the virtue of being on immunosuppressive agents which put them at risk of having infections from unusual and even multiple concomitant pathogens. We present a case of a 39-year-old man who developed septicaemia with Enterococcus casseliflavus, Streptococcus equinus and Klebsiella oxytoca in the setting of perinephric haematoma which resulted following a kidney biopsy performed to evaluate his nephrotic range proteinuria. E. casseliflavus has been known to cause infections in patients with liver disease/cirrhosis; however, simultaneous infection with S. equinus and K. oxytoca along with E. casseliflavus has never been reported earlier in post-transplant state.
      Keywords: Ulcerative colitis, Cirrhosis, Malignant disease and immunosuppression, Gastroenterology, Infectious diseases, Rare disease, Drugs and medicines
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230096
      Issue No: Vol. 12, No. 8 (2019)
       
  • The curious case of biliary emesis and bowel obstruction from Bouveret
           syndrome
    • Authors: Chow, B. L; Zia, K, Scott, S, Pathmarajah, M.
      Abstract: Bouveret syndrome is a rare complication of biliary lithiasis. This sequela is caused by the passage of the gallstone via a bilioenteric fistula, resulting in an impacted gallstone in the duodenum or stomach. The common presentation of non-specific symptoms contributes to the diagnostic uncertainty and delay, which is strongly associated with adverse outcomes. We report an uncomplicated stone extraction via open gastrotomy in an elderly man afflicted with bowel obstruction and biliary vomit secondary to Bouveret syndrome.
      Keywords: Endoscopy, Gastroenterology, Pancreas and biliary tract, Surgery, Rare disease, Stomach and duodenum, Gastrointestinal surgery
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230194
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rare presentation of haemobilia and Loefflers pneumonia in a child by
           ascaris lumbricoides
    • Authors: Cheema, H. A; Waheed, N, Saeed, A.
      Abstract: Ascariasis is a soil-sourced, second most common parasitic infection worldwide. Because of its wandering nature, it migrates from the intestine to other organs of the body like the lungs and biliary system. This results in complications such as biliary colic, acute cholecystitis, pyogenic cholangitis, liver abscesses, pancreatitis and loeffler’s pneumonia. We report a unique case of an 8-year-old boy who presented with upper gastrointestinal bleed and chest infection. He was diagnosed as haemobilia and loeffler’s pneumonia caused by ascaris lumbricoides.
      Keywords: GI bleeding, Gastroenterology, Paediatrics, Unusual presentation of more common disease/injury, Respiratory medicine, Pneumonia (respiratory medicine)
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230198
      Issue No: Vol. 12, No. 8 (2019)
       
  • Congenital sigmoid mesocolic defect as a cause of neonatal intestinal
           obstruction
    • Authors: Sharma, K; Dhua, A, Thomas, D, Sankar, M. J.
      Abstract: Internal herniation through congenital sigmoid mesocolic defect as a cause of neonatal intestinal obstruction is rarely reported. Clinical judgement combined with judicious use of investigations and prompt exploration is essential to provide immediate relief of the obstruction and salvage the herniated loop of bowel, which otherwise might lead to morbidity and even death. We present a neonate with internal herniation of the ileum through a congenital mesocolic defect which was diagnosed by a prompt abdominal exploration in view of persistent clinical signs of intestinal obstruction. The relevant literature is also discussed highlighting the rarity of neonatal presentation of sigmoid mesocolic defect.
      Keywords: Paediatrics, Unusual association of diseases/symptoms, Congenital disorders, Neonatal and paediatric intensive care
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230253
      Issue No: Vol. 12, No. 8 (2019)
       
  • Prenatal diagnosis of congenital mesoblastic nephroma: a case with poor
           prognosis
    • Authors: Mata, R. P; Alves, T, Figueiredo, A, Santos, A.
      Abstract: Congenital mesoblastic nephromais a rare tumour found in neonates, with a very small number of cases diagnosed prenatally. We report a case of a fetal renal tumour suspected at 28 weeks’ gestation on routine ultrasound. Prenatal follow-up revealed a severe polyhydramnios at 32 weeks’ gestation subsequent amniodrainage was undertaken. She delivered at 34+5 weeks’ gestation, after spontaneous premature rupture of membranes.
      Keywords: Obstetrics and gynaecology, Surgery, Rare disease, Pregnancy
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230297
      Issue No: Vol. 12, No. 8 (2019)
       
  • Kerion of the pubis and vulva with bacterial superinfection: a rare
           occurrence
    • Authors: Saadia, A; Reckhow, J, Rozenblat, M, Last, O.
      Abstract: Kerion is a severe hypersensitivity reaction to fungal infection that is rarely seen in the groin. Frequent shaving of pubic hair and religious conservatism surrounding genital hygiene are common among Bedouin women in the Negev Desert, and may predispose to kerion. This case highlights the clinical course of a 20-year-old Bedouin woman who presented with severe kerion celsi of the pubis and vulva with secondary bacterial infection. The patient was successfully treated with intravenous antibiotics, oral antifungal medication and wet topical dressings. The case outlines the risk factors and treatment for severe kerion celsi of the groin, as well as possible preventive measures that may reduce its incidence.
      Keywords: Healthcare improvement and patient safety, Global health, Sexual health, Dermatology, Vulvovaginal disorders
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230320
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rare case of cystic hygroma in the epidural space resulting in multilevel
           spinal cord compression
    • Authors: Payne, C; Gigliotti, M. J, Castellvi, A, Yu, A.
      Abstract: Lymphangioma, or cystic hygroma, involving the epidural space and spinal soft tissue, is a rare benign lesion consisting of an abnormal collection of lymphatic tissue isolated from the normal lymphatic system. This case report is the most extensive case of cystic hygroma involving the spine reported in the literature. A 23-year-old man with a history of cystic hygromas of the neck and thorax presented with bilateral upper and lower extremity weakness that progressively worsened over 3 months. A left hemilaminectomy from C4 to T5 with endoscopic exploration and cyst drainage was performed. At last follow-up, the patient was ambulating and returned to work. Aggressive decompression of mass lesions resulting in myelopathy, such as the spinal cystic hygromas, resulted in improved motor function as well as overall function status.
      Keywords: Surgery, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Neurology, Neuroimaging, Neurological injury, Spinal cord, Neurosurgery
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230326
      Issue No: Vol. 12, No. 8 (2019)
       
  • Pure sensory stroke due to brainstem lesion
    • Authors: McCreery, R; Fekete, Z.
      Abstract: A 40-year-old male patient presented to the emergency department with acute onset right-sided upper and lower extremity numbness/tingling over the past day. Prior to the paraesthesia onset, the patient experienced transient mild ataxia and left ocular pain with complete resolution at the time of presentation. Neurological exam revealed isolated right-sided sensory changes from his hand-to-elbow as well as foot-to-knee. No other focal neurological deficits were noted. MRI brain revealed a small left posterior infarct at the junction between the pons and midbrain. Dual-antiplatelet therapy was initiated and the patient experienced minimal paraesthesia improvement proximally over his 5-day hospital course. This case report highlights an acute brainstem stroke presenting with predominant hemisensory symptoms. Presentations of brainstem lesions can range from subtle, non-specific features to profound deficits. This case serves to emphasise the importance of performing a thorough clinical exam while maintaining a high index of suspicion for brainstem lesions.
      Keywords: Open access, Reminder of important clinical lesson, Neurology, Brain stem / cerebellum, Clinical neurophysiology, Stroke
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230472
      Issue No: Vol. 12, No. 8 (2019)
       
  • Proteus mirabilis endocarditis
    • Authors: Albuquerque, I; Silva, A. R, Carreira, M. S, Frioes, F.
      Abstract: A 62-year-old man was admitted to the emergency department due to fever and acute heart failure. A transthoracic echocardiogram revealed severe aortic valve obstruction. He was an hepatic transplant recipient and was medicated with everolimus. He underwent mitral and aortic valve replacement with prosthetic valves 4 years ago. Due to his medical background, therapy and clinical presentation, empirical therapy for infective endocarditis was started. Transoesophageal echocardiogram showed severe aortic valve regurgitation but no other findings suggestive of endocarditis. Computed tomography (CT) revealed pulmonary infiltrates compatible with infection and no evidence of septic embolisation. Multiple sets of blood cultures were negative. Proteus mirabilis was isolated in bronchial lavage and antibiotic therapy was adjusted. The patient underwent aortic valve replacement, with no macroscopic findings suggestive of endocarditis. P. mirabilis was isolated in the surgically removed valve. Dual antibiotic therapy was successfully administered for 6 weeks.
      Keywords: Cardiovascular medicine, Infections, Rare disease, Drugs and medicines, Valvar diseases
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230575
      Issue No: Vol. 12, No. 8 (2019)
       
  • Goldenhar syndrome associated with genital tract abnormality
    • Authors: Benjamin; J. C.
      Abstract: Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, has been described since 1952. Traditionally, the syndrome has been described as having eye, ear, facial and vertebral anomalies. However, numerous case reports and reviews have highlighted multi-organ involvement, including cardiovascular, gastrointestinal, respiratory system and urinary abnormalities. We describe a 13 years old who has a reproductive tract abnormality, which has not been reported previously as a finding of Goldenhar syndrome.
      Keywords: Urinary and genital tract disorders, Paediatrics, Open access, Unusual presentation of more common disease/injury, Drugs and medicines, Genetics
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230686
      Issue No: Vol. 12, No. 8 (2019)
       
  • Niraparib as maintenance therapy in a patient with ovarian cancer and
           brain metastases
    • Authors: Gray, S; Khor, X. Y, Yiannakis, D.
      Abstract: Ovarian cancer is the second the most common gynaecological malignancy in developed countries. 70% of patients relapse in the first 3 years following debulking surgery and first-line chemotherapy. Niraparib is a poly adenosine diphosphate ribose polymerase inhibitor which uses the concept of synthetic lethality in the presence of a mutation in the breast cancer susceptibility gene (BRCA), and is now recommended as maintenance treatment in patients with platinum-sensitive relapse of ovarian cancer. It has been shown to increase progression-free survival. We present a case of a 68-year-old woman with brain metastases from high-grade serous ovarian cancer who has remained free of disease progression for longer than 17 months with niraparib use as maintenance treatment after second-line chemotherapy.
      Keywords: Malignant disease and immunosuppression, Oncology, Novel treatment (new drug/intervention; established drug/procedure in new situation), Drugs and medicines
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230738
      Issue No: Vol. 12, No. 8 (2019)
       
  • Displaced Salter-Harris I fracture of the distal ulna physis
    • Authors: Clesham, K; Piggott, R. P, Sheehan, E.
      Abstract: A 10-year-old girl presented to the emergency department having sustained a fall onto an outstretched left hand while playing soccer. Clinical and radiographical assessment identified a Salter-Harris I distal ulna fracture, as well as a buckle fracture of the distal radius. The injury was closed, and she had no neurovascular deficits on examination. She was brought to the operating theatre the following morning for closed reduction under general anaesthesia. Image intensification was used to confirm anatomical reduction, and an above-elbow moulded plaster-of-paris cast was applied. Follow-up clinical assessment at 6 weeks confirmed healing of the fracture, and she proceeded to make a full recovery. This case describes the anatomy and physiology of such rare injuries and outlines treatment principles and potential pitfalls based on best available evidence.
      Keywords: Paediatrics, Surgery, Unusual presentation of more common disease/injury, Orthopaedics, Radiology, Orthopaedic and trauma surgery
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230783
      Issue No: Vol. 12, No. 8 (2019)
       
  • Copper beaten skull
    • Authors: Ittyachen, A. M; Anand, R.
      Keywords: Images in..., General practice / family medicine, Neurology, Neuroimaging
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-230916
      Issue No: Vol. 12, No. 8 (2019)
       
  • Congenital or acquired' Obstructive jaundice in reoperated duodenal
           atresia
    • Authors: Goh, M. F. J; Mak, M. H. W, Low, Y, Ong, C. C. P.
      Abstract: A 55-day-old boy was transferred to our unit with intestinal obstruction and obstructive jaundice after two neonatal operations for duodenal atresia and intestinal malrotation. Abdominal ultrasound showed dilated intrahepatic and extrahepatic ducts with cut-off at the distal common bile duct (CBD). He underwent emergency laparotomy for adhesive intestinal obstruction with a contained abscess from mid-jejunal perforation. Biliary dissection was not attempted due to poor preoperative nutritional status. Tube cholecystostomy was created for biliary decompression. Postoperative magnetic resonance cholangiopancreatography showed dilated CBD with cut-off at the ampulla but did not demonstrate pancreaticobiliary maljunction (PBMJ). The diagnostic dilemma was whether our patient had congenital PBMJ or had developed biliary stricture from perioperative ischaemic scarring. He underwent definitive surgery at 7 months: excision of dilated CBD with Roux-en-Y hepaticojejeunal reconstruction, excisional tapering duodenoplasty and jejunostomy creation. Intraoperative finding was type I choledochal cyst and subsequently confirmed on histology. Postoperative recovery was uneventful and bilirubin levels normalised.
      Keywords: Paediatrics, Surgery, Unusual association of diseases/symptoms, Congenital disorders
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-231021
      Issue No: Vol. 12, No. 8 (2019)
       
  • Hypercalcaemia, adrenal insufficiency and bilateral adrenal histoplasmosis
           in a middle-aged man: a diagnostic dilemma
    • Authors: Agrawal, S; Goyal, A, Agarwal, S, Khadgawat, R.
      Abstract: A 45-year-old man presented with a 3-month history of involuntary weight loss, anorexia, postural dizziness and intermittent fever. On investigation, he was found to have parathyroid hormone (PTH)-independent hypercalcaemia, with negative workup for 25-hydroxyvitamin D or 1,25-dihydroxyvitamin D excess, thyrotoxicosis, multiple myeloma and bony metastases. On further evaluation, he was detected to have primary hypoadrenalism with bilateral adrenal enlargement, secondary to adrenal histoplasmosis. Hypercalcaemia improved with hydration and physiological steroid replacement even before initiation of antifungal therapy, confirming adrenal insufficiency as the cause for hypercalcaemia. Hypercalcaemia resulting from hypoadrenalism secondary to adrenal histoplasmosis is rare and should be suspected whenever evaluating a patient with PTH-independent hypercalcaemia.
      Keywords: Infections, Endocrinology, Reminder of important clinical lesson, Drugs and medicines, Adrenal disorders, Calcium and bone
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-231142
      Issue No: Vol. 12, No. 8 (2019)
       
  • Eluxadoline-induced pancreatitis occurring in an adult man without a prior
           cholecystectomy
    • Authors: Shahid, Z; Packard, E, Groff, A, Jain, R.
      Abstract: Eluxadoline is a novel medication that was approved in the USA in 2015 for the treatment of diarrhoea-predominant irritable bowel syndrome. Due to its unique mechanism of action as both an opioid agonist and antagonist, it has been placed as a schedule IV controlled substance. Since its approval, there have been several cases of eluxadoline-induced pancreatitis reported in the literature. The majority of patients who presented with eluxadoline-induced pancreatitis were reported to have had a prior cholecystectomy. Due to this, the Food and Drug Administration released a warning in 2017 that eluxadoline should no longer be used in patients who do not have a gall bladder. We present a rare case of an adult man without prior cholecystectomy who presented with severe mid-epigastric pain and was found to have eluxadoline-induced pancreatitis.
      Keywords: Gastroenterology, Pancreatitis, Unexpected outcome (positive or negative) including adverse drug reactions, Pharmacology and therapeutics, Unwanted effects / adverse reactions
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-231185
      Issue No: Vol. 12, No. 8 (2019)
       
  • An unusual presentation of chronic sclerosing sialadenitis of
           submandibular gland (Kuttners tumour)
    • Authors: Lakshmanan, S; Manimaran, V, Valliappan, V, Arumugam, V.
      Abstract: Kuttner’s tumour, also known as chronic sclerosing sialadenitis, is a localised form of IgG4 disease which presents as asymptomatic submandibular gland swelling. The diagnosis is usually based on histopathology and immunohistochemistry. A 33-year-old woman presented with acute-onset pain and swelling in the right submandibular region. Clinical examination showed an enlarged submandibular gland, and CT showed a calculus in the Wharton’s duct. After treating the acute phase with antibiotics, the patient underwent submandibular gland excision and calculus removal. Histopathology of the specimen showed areas of periductal sclerosis, acinar atrophy and intense lymphoplasmacytic infiltrates with occasional eosinophils. The IgG4 to IgG plasma cell ratio was>40%, suggestive of an IgG4-related disease. The authors have chosen to report this case because of the unusual presentation of IgG4 disease as acute sialadenitis.
      Keywords: Unusual association of diseases/symptoms, Pathology, Ear, nose and throat/otolaryngology
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-231189
      Issue No: Vol. 12, No. 8 (2019)
       
  • Nivolumab-induced hypothyroidism followed by isolated ACTH deficiency
    • Authors: Martins Machado, C; Almeida Santos, L, Barroso, A, Oliveira, M. J.
      Abstract: Cancer immunotherapy has been used in several malignancies with clinical benefit. Despite the clinical success, immune-related adverse events are frequent and endocrinopathies can be particularly severe. We report a 55-year-old male patient with stage IV pulmonary carcinoma treated with nivolumab who presented with thyroid dysfunction after the sixth administration of the drug. One year after thyroid dysfunction, the patient complained of severe fatigue, asthenia and weight loss. Laboratory testing showed low morning cortisol with undetected adrenocorticotropic hormone; other pituitary hormones were normal and MRI showed homogeneous enhancement of the pituitary gland and no space-occupying lesions. The diagnosis of nivolumab-induced hypophysitis was made and replacement treatment with hydrocortisone was started with clinical improvement. This case demonstrates that patients under immunotherapy are at risk for a large spectrum of endocrine dysfunctions that may worsen their prognosis. Close monitoring of these patients is warranted.
      Keywords: Endocrinology, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Immunology (including allergy)
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-231236
      Issue No: Vol. 12, No. 8 (2019)
       
  • Ischaemic stroke in a patient with myasthaenic crisis and antiphospholipid
           antibody syndrome
    • Authors: Diestro, J. D. B; Dorotan, M. K. C, Andal, V. M. D, Tomas, A. B, Geocadin, R. G, Collantes, M. E. V.
      Abstract: While autoimmune diseases have been frequently found to coexist in the same patients, the co-occurrence of myasthaeniagravis and antiphospholipid antibody syndrome (APAS) has only been reported in eight cases. We present a case of a 46-year-old Filipina who developed ischaemic stroke while admitted at the neurocritical unit for myasthaenic crisis. She was successfully thrombolysed with intravenous recombinant tissue plasminogen activator (rTPA), given a regimen of intravenous Ig and a dose of cyclophosphamide prior to discharge. Extensive workup revealed APAS to be the aetiology of her stroke. Twenty-one months into her follow-up, she is doing well with a modified Rankin Score of 0. Our case suggests that rTPA followed by immunomodulators may be given safely in myasthaenic crisis patients who develop ischaemic stroke. We emphasise the importance of doing a comprehensive neurological evaluation in agitated patients in the critical care unit.
      Keywords: Reminder of important clinical lesson, Immunology (including allergy), Neurology, Neuromuscular disease, Stroke
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-231239
      Issue No: Vol. 12, No. 8 (2019)
       
  • An abnormal capnography trace due to air embolism in the lateral position
    • Authors: Lee, Y. L; Hwang, K. Y, Yew, W. S, Ng, S. Y.
      Abstract: Venous air embolism occurs when air is entrained into the venous system and travels to the right heart and pulmonary circulation, and commonly occurs as a complication in laparoscopic, neurosurgical and cardiac surgeries. We present a case of abnormal end-tidal carbon dioxide capnography tracing in the lateral position in a laparoscopic major liver procedure and discuss the potential novel use of this as a red flag in aiding the medical practitioner to diagnose air embolism.
      Keywords: Anaesthesia, Oncology, Surgery, Novel diagnostic procedure, Hepatic cancer, Surgical oncology
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-231316
      Issue No: Vol. 12, No. 8 (2019)
       
  • Haemoptysis due to endobronchial telangiectasias
    • Authors: Mittal, S; Madan, K, Mohan, A, Boppana, T. K.
      Keywords: Images in..., Immunology (including allergy), Rheumatology, Connective tissue disease
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-231377
      Issue No: Vol. 12, No. 8 (2019)
       
  • Solid pseudopapillary neoplasm of pancreas in a patient of situs inversus
           totalis
    • Authors: Vishwanath Reddych, V; Prakash, A.
      Abstract: Solid pseudopapillary neoplasm (SPN) in a case of situs inversus totalis (SIT) is a rare occurrence with only one case being reported until now in the literature. SIT presents a technical challenge for the operating surgeon in view of the reversed anatomy hence the operating surgeon should orient himself of the altered anatomy of SIT before contemplating surgery. To the best of our knowledge, spleen-preserving distal pancreatectomy in a patient of SPN with SIT has not been reported until now. We are reporting a case of SPN with SIT who underwent spleen-preserving distal pancreatectomy.
      Keywords: Gastroenterology, Pancreas and biliary tract, Oncology, Surgery, Rare disease, Pancreatic cancer, Gastrointestinal surgery
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-231644
      Issue No: Vol. 12, No. 8 (2019)
       
  • An incidental finding of an oesophageal duplication cyst
    • Authors: Aujayeb, A; Narkhede, P.
      Keywords: Images in..., Radiology, Respiratory medicine
      PubDate: 2019-08-28T23:11:50-07:00
      DOI: 10.1136/bcr-2019-231753
      Issue No: Vol. 12, No. 8 (2019)
       
  • Unusual cause of a left hypochondria pain: pedunculated giant haemangioma
           of the liver
    • Authors: Kouki, S; Helal, I, Ben Lassoued, M.
      Keywords: Liver disease, Gastroenterology, Images in..., Radiology
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2018-224349
      Issue No: Vol. 12, No. 8 (2019)
       
  • Unusual cause of dysphagia
    • Authors: Koh, D; Thakur, U, Lim, W. M.
      Abstract: In this case, we describe a unique case of large renal hydronephrosis in a 79-year-old Indian male patient who had initially presented with 3 months of progressive dysphagia and loss of weight. His dysphagia was initially thought to be related to the atypical diagnosis of achalasia and was being considered for an elective laparoscopic Heller myotomy. On performing CT of the abdomen, a large renal mass was discovered. However, predicament remained regarding the exact aetiology of this renal mass. This case highlights a tremendously intriguing case of dysphagia with an underlying aetiology that has not been reported elsewhere previously.
      Keywords: Gastrointestinal system, Surgery, Urology, Open access, Unusual association of diseases/symptoms, Drugs and medicines, Gastrointestinal surgery, General surgery
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2018-227610
      Issue No: Vol. 12, No. 8 (2019)
       
  • Factor XIII deficiency with intracranial haemorrhage
    • Authors: Ejaz, M; Saleem, A, Ali, N, Tariq, F.
      Abstract: A 5-year-old girl presented to paediatric emergency with fever and seizures for a short duration. At first, meningitis was suspected and management was started empirically. There was no improvement in the clinical condition of the patient and investigations revealed spontaneous intracranial haemorrhage (ICH) secondary to factor XIII deficiency. The child was transfused cryoprecipitate and managed conservatively for ICH. She became asymptomatic and was kept on monthly cryoprecipitate transfusions. This case report summarises factor XIII deficiency in ICH which was not suspected initially, but diagnosed later on after CT scan head and factor XIII assay. This report also highlights events occurring during its management.
      Keywords: Paediatrics, Rare disease, Haematology (incl blood transfusion), Neurology
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2018-228682
      Issue No: Vol. 12, No. 8 (2019)
       
  • Superior mesenteric artery syndrome in a healthy active adolescent
    • Authors: Okamoto, T; Sato, T, Sasaki, Y.
      Abstract: This report discusses a case of superior mesenteric artery (SMA) syndrome in a previously healthy 15-year-old boy with no weight loss or other common risk factors. The patient presented to the emergency department with acute bilious vomiting and epigastric pain after acute consumption of a meal and excessive quantities of water. The patient was diagnosed with SMA syndrome based on the findings of contrasted CT of the abdomen. In early puberty, boys have a significant increase in lean body mass and a concomitant loss of adipose tissues. These pubertal changes lead to a narrowing of the aortomesenteric space. The acute consumption of food and water caused a transient obstruction at the already-narrowed space, which resulted in the manifestation of SMA syndrome. This case demonstrates that pubertal growth spurt is a risk factor for SMA syndrome, and acute excessive ingestion can trigger SMA syndrome among those in puberty.
      Keywords: Emergency medicine, Gastroenterology, Paediatrics, Open access, Rare disease, Stomach and duodenum, Primary care
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2018-228758
      Issue No: Vol. 12, No. 8 (2019)
       
  • Cetuximab associated dermal filler reaction
    • Authors: Pathmanathan, S; Dzienis, M.
      Abstract: A 52-year-old male patient with hyaluronic acid-based dermal fillers injected in his cheeks was diagnosed with glossotonsillary malignancy, and managed with concurrent cetuximab (epidermal growth factor receptor inhibitor) and radiation therapy. He developed significant inflammation around the dermal filler sites after first cycle of cetuximab which improved with dissolution of the dermal fillers with hyaluronidase. This suggests that cetuximab can lead to inflammation around the dermal filler sites, which can be treated with dissolution of the filler.
      Keywords: Oncology, Unexpected outcome (positive or negative) including adverse drug reactions, Head and neck cancer, Chemotherapy, Dermatology
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2018-228882
      Issue No: Vol. 12, No. 8 (2019)
       
  • Reocclusion of the treated vessel due to endothelial injury after
           mechanical thrombectomy in a patient with acute ischaemic stroke
    • Authors: Hidaka, M; Yamaguchi, S, Koyanagi, Y, Arakawa, S.
      Abstract: A 92-year-old woman developed sudden consciousness disturbance, global aphasia and right hemiparesis. She had atrial fibrillation and cardioembolic stroke was diagnosed. Tissue plasminogen activator was administered, and endovascular treatment was initiated. The left middle cerebral artery was occluded and complete recanalisation was achieved after direct aspiration first-pass technique. However, MRI immediately after treatment showed reocclusion. Endovascular treatment was repeated and complete recanalisation was achieved. There was no evidence of cerebral artery dissection, but angiography soon after the second procedure revealed early reocclusion. Ozagrel, an antiplatelet agent, was administered intravenously and prevented reocclusion. Endothelial injury was speculated to have occurred during the first mechanical thrombectomy, leading to recurrent occlusion. Though the patient continued to have right hemiparesis, she recovered from her consciousness disturbance and aphasia after re-treatment.
      Keywords: Surgery, Reminder of important clinical lesson, Neuroimaging, Neurosurgery
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2018-228937
      Issue No: Vol. 12, No. 8 (2019)
       
  • Pulmonary cryptococcosis complicating interstitial lung disease in a
           patient with systemic lupus erythematosus
    • Authors: Gaiba, R; ONeill, E, Lakshmi, S.
      Abstract: We report a case of primary pulmonary cryptococcosis in a 59-year-old female patient with a history of systemic lupus erythematosus, interstitial lung disease and glaucoma. She presented with a cough, severe fatigue, unintentional weight loss, shortness of breath (increase in home oxygen use from baseline) and pleuritic chest pain of 2 months duration. During these 2 months, her symptoms had worsened despite multiple hospital visits, empirical antibiotics and empirical increase of her steroid dosage. Cytopathology of the bronchoalveolar lavage fluid showed yeast cells with narrow-based budding and grew Cryptococcus neoformans on fungal culture. She was treated with oral fluconazole 400 mg/day for 6 months with an improvement in cough, decrease in shortness of breath (return to baseline oxygen use) and resolution of pleuritic chest pain.
      Keywords: Infectious diseases, Unusual presentation of more common disease/injury, Pneumonia (infectious disease), Pathology, Rheumatology, Systemic lupus erythematosus
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-229403
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rare presentation of bronchopulmonary Kaposi sarcoma
    • Authors: Diaz, R; Almeida, P, Morgan, D.
      Abstract: Kaposi sarcoma (KS) is an angioproliferative disorder that is commonly associated with human herpes virus 8 as well as the HIV. In fact, KS is one of the most common AIDS-defining illnesses. KS typically presents with diffuse, violaceous cutaneous nodules, and may have concomitant visceral involvement. However, visceral involvement rarely occurs without skin manifestations. A rare case of localised bronchopulmonary KS without skin involvement is described in a patient with previously undiagnosed HIV. This atypical presentation represents a challenge for modern-day physicians in developed countries where the prevalence of AIDS-related diseases is decreasing.
      Keywords: Intensive care, Infectious diseases, Nutrition and metabolism, Oncology, Rare disease, HIV/AIDS, Malnutrition, Respiratory cancer, Respiratory medicine, Mechanical ventilation, Pneumonia (respiratory medicine)
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-229436
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rapid onset type-1 diabetes and diabetic ketoacidosis secondary to
           nivolumab immunotherapy: a review of existing literature
    • Authors: Abdullah, H. M. A; Elnair, R, Khan, U. I, Omar, M, Morey-Vargas, O. L.
      Abstract: Nivolumab is a programmed cell death receptor (PD-1) inhibitor that is increasingly used for various malignancies, both as a first line agent and as salvage therapy. Being a PD-1/PD-1 ligand checkpoint inhibitor, it is known to cause autoimmune inflammation of various organs and has been associated with thyroiditis, insulitis, colitis, hepatitis and encephalitis to name a few. There are increasing reports of nivolumab leading to acute onset fulminant type 1 diabetes and diabetic ketoacidosis (DKA). We present a case of a 68-year-old man who developed DKA after 2 doses of nivolumab for metastatic melanoma. He was found to have type 1 diabetes, but no diabetes related antibodies were positive. He recovered from diabetes and continues to use insulin 1 year after his diagnosis. This case and associated review illustrates the importance of educating and monitoring patients who start nivolumab therapy regarding this potentially life threatening complication.
      Keywords: Immunological products and vaccines, Endocrinology, Oncology, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Chemotherapy, Diabetes
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-229568
      Issue No: Vol. 12, No. 8 (2019)
       
  • Inguinal endometriosis: a differential diagnosis of right groin swelling
           in women of reproductive age
    • Authors: Fong, K. N. Y; Lau, T. W. S, Mak, C. C. C, Lui, K. W.
      Abstract: We reported a case of right inguinal endometriosis in a 41-year-old woman with unremarkable surgical and gynaecological history. She presented with right groin swelling for a month since her last menstrual period. Clinically the swelling was first diagnosed as inguinal hernia and later histologically proven to be endometriosis.
      Keywords: Obstetrics and gynaecology, Surgery, Rare disease, General surgery
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-229864
      Issue No: Vol. 12, No. 8 (2019)
       
  • Open reduction capsular arthroplasty using a modified Codivilla-Hey
           Groves-Colonna procedure augmented with tensor fascia lata graft,
           supported by Ilizarov hinged external fixator in a patient with chronic
           traumatic posterior hip dislocation
    • Authors: Dumlao, P. I. E; Javier, J, Sumpaico, C. E.
      Abstract: Untreated traumatic hip dislocation is a rare condition in children. Capsular arthroplasty is a previously abandoned surgical technique in dealing with developmental dysplasia of the hips but not described in traumatic dislocations. We present a 2-year follow-up of a 7-year-old boy who sustained chronic traumatic posterior hip dislocation treated as a first case in published literature combining a modified version of the Codivilla-Hey Groves-Colonna procedure, using tensor fascia lata graft and application of a hinged Ilizarov frame. The patient is currently independent on all activities of daily living.
      Keywords: Rehabilitation medicine, Novel treatment (new drug/intervention; established drug/procedure in new situation), Orthopaedics, Physiotherapy
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-229926
      Issue No: Vol. 12, No. 8 (2019)
       
  • Duodenal atresia with familial apple peel syndrome: case study with review
           of literature
    • Authors: Kirtane, J. M; Bhange, S. A, Nabi, F, Shah, V.
      Abstract: This is a case report of a neonate who was antenatally diagnosed with jejunal atresia which turned out to be duodenal atresia with apple peel syndrome. A previous sibling, who also had apple peel but with jejunal atresia, succumbed to sepsis after surgery. The first sibling had jejunal stenosis and had died of sepsis following surgery. Combination of duodenal atresia with apple peel is extremely rare. This coupled with a familial condition is rarer still. This case was challenging due to the short length of the gut and prolonged need for total parenteral nutrition and sepsis in postoperative period.
      Keywords: Paediatrics, Surgery, Rare disease, Congenital disorders, Neonatal and paediatric intensive care
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230160
      Issue No: Vol. 12, No. 8 (2019)
       
  • Brainstem encephalitis caused by Coxsackie A16 virus in a
           rituximab-immunosuppressed patient
    • Authors: Cameron Smail, R; ONeill, J. H, Andresen, D.
      Abstract: Rituximab and other B cell depleting agents are increasingly used for haematological, immunological and neurological diseases. In a small minority, immunosuppression leads to increased virulence of normally mild infections. Brainstem encephalitis has been described occurring after infection from enteroviruses, more commonly in the paediatric population, but also in immunosuppressed adults. In this paper, we describe an enteroviral brainstem encephalitis in a rituximab-immunosuppressed patient. The enterovirus identified was Coxsackie A16, which has never yet been reported to cause brainstem encephalitis in an adult.
      Keywords: Rare disease, Haematology (incl blood transfusion), Neurology, Brain stem / cerebellum, Infection (neurology), Neuro ITU
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230177
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rare case of tubulocystic RCC in association with papillary RCC
    • Authors: Alfaseh, A; Ahmad, A, Darraj, A, Ilaiwy, A.
      Keywords: Surgery, Images in..., Pathology, Renal medicine, Surgical oncology
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230191
      Issue No: Vol. 12, No. 8 (2019)
       
  • Mystery of neck lump: an uncommon presentation of urachal cancer
    • Authors: Sahu, K. K; Pandey, D, Mishra, A. K, OShea, J, Chen, Y, McGregor, B.
      Abstract: We present the case of a 55-year-old male patient who presented with palpable cervical lymphadenopathy. Excisional biopsy showed metastatic adenocarcinoma of unknown origin. Imaging showed a bladder mass following which he underwent transurethral resection of bladder tumour. Histopathological evaluation of mass confirmed a poorly differentiated adenocarcinoma with signet-ring cell features. Immunohistochemistry was suggestive of metastatic urachal cancer. He agreed for enrollment in a clinical trial, however soon after 1st cycle, he developed immune pneumonitis requiring high dose steroids. On follow-up, MRI brain was done for evaluation of headache which showed metastatic intracranial disease. He completed radiotherapy following which he was started on FOLFOX chemo regimen (folinic acid, 5-fluorouracil and oxaliplatin).
      Keywords: Malignant disease and immunosuppression, Rare disease, Drugs and medicines, Interventional cardiology, Radiology (diagnostics)
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230215
      Issue No: Vol. 12, No. 8 (2019)
       
  • Human cytomegalovirus pneumonia in an immunocompetent patient: a very
           uncommon but treatable condition
    • Authors: Waqas, Q. A; Abdullah, H. M. A, Khan, U. I, Oliver, T.
      Abstract: Human cytomegalovirus (CMV) is a double-stranded DNA virus that can cause widespread severe infection in immunocompromised individuals but is more typically a subclinical infection in immunocompetent individuals. Rarely, it can cause a serious infection in immunocompetent individuals. Here, we describe a 36-year-old otherwise healthy male who presented with fever, cough and malaise who was diagnosed with CMV pneumonia. He made a rapid recovery after initiation of ganciclovir and has been doing well on follow-up visits. We performed a comprehensive review of CMV pneumonia in immunocompetent individuals and have summarised the prior 16 reported cases of CMV pneumonia in immunocompetent patients. This article highlights the importance of considering CMV as a cause of pneumonia even in immunocompetent individuals, especially when the more common causes have been excluded. Early diagnosis allows prompt treatment and potentially complete recovery.
      Keywords: Infectious diseases, Unusual association of diseases/symptoms, Respiratory medicine, Pneumonia (respiratory medicine)
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230229
      Issue No: Vol. 12, No. 8 (2019)
       
  • Marchiafava-Bignami disease with haemophagocytic lymphohistiocytosis as a
           postoperative complication of cardiac surgery
    • Authors: Takei, K; Motoyoshi, N, Sakamoto, K, Kitamoto, T.
      Abstract: Marchiafava-Bignami disease (MBD) is a rare complication of chronic alcoholism; however, MBD in a non-alcoholic diabetic patient has rarely been reported. The aetiology or pathophysiology of MBD is still unknown. A 50-year-old man with a history of untreated diabetes mellitus underwent on-pump beating coronary artery bypass graft surgery (CABG) surgery for three-vessel and left main coronary disease. 3 days after the surgery, he developed a fever over 40°C and entered a coma state. MRI revealed multiple lesions, including in the corpus callosum, globus pallidus, brain stem and upper cervical spinal cord, which suggested MBD. The patient did not respond to thiamine therapy, but partly responded to steroid therapy. He ultimately died of respiratory failure. The autopsy revealed MBD and haemophagocytic lymphohistiocytosis. It is rare, but systemic inflammatory response syndrome induced by on-pump beating CABG could develop these complication.
      Keywords: Surgery, Rare disease, Neurology, Cardiothoracic surgery
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230368
      Issue No: Vol. 12, No. 8 (2019)
       
  • Measurement of cerebrospinal fluid ACE level in aseptic meningitis:
           diagnostic'
    • Authors: Saha, B. K; Saha, A, Beegle, S.
      Abstract: Neurosarcoidosis (NS) is a rare disease, affecting only 3%–10% of patients with sarcoidosis. The clinical presentation can be protean and often represents a diagnostic challenge. Cerebrospinal fluid (CSF) ACE level has poor sensitivity, but high specificity for establishing a diagnosis of NS. We present a case of NS in a middle-aged African American woman who presented with dysphagia and dysphonia. An extensive radiological workup was negative for structural brain disease. CSF studies demonstrated lymphocyte predominant pleocytosis with an elevated ACE level. A diagnosis of possible neurosarcoidosis was made. She responded to systemic steroid therapy with complete resolution of her symptoms over the next five months. In the appropriate clinical setting, an elevated CSF ACE level could be of paramount importance for making a diagnosis of NS.
      Keywords: Rare disease, Neurology, Cranial nerves, Respiratory medicine, Interstitial lung disease
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230532
      Issue No: Vol. 12, No. 8 (2019)
       
  • Electrical injury: an unusual cause of pneumothorax and a review of
           literature
    • Authors: Handa, A; Tendolkar, M. S, Singh, S, Gupta, P. N.
      Abstract: Electrical injuries are a common occurrence and can be minor or even fatal depending on the voltage to which an individual has been exposed to. Electrical current causes tissue damage by producing heat due to local tissue resistance. Serious electrocution may manifest with cutaneous burns, visceral injuries, organ perforation, and cardiac and respiratory effects. Pneumothorax as a complication of electrical injury is a very rare entity. We report one such case of electrical burn injury with right-sided pneumothorax as an immediate complication.
      Keywords: Emergency medicine, Unusual presentation of more common disease/injury, Trauma
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230590
      Issue No: Vol. 12, No. 8 (2019)
       
  • An extremely rare and atypical paediatric presentation of a maxillary
           sinus haemangioma in the UK
    • Authors: Iacovidou, A; Acharya, V, Joshi, D, Taghi, A.
      Abstract: We present a rare and unusual case of a 16-year-old girl, with no significant medical history, presenting with right nasal obstruction and suspected sinusitis with occasional epistaxis and haemoptysis. On examination, she had a mass lesion in the right nasal cavity, with no evidence of other pathology on assessment of the ears, nose, throat or head and neck. A CT scan revealed an opacified right maxillary sinus with polypoidal mucosa, extending and passing through the accessory ostium into the right nasal cavity. Examination under anaesthesia with functional endoscopic sinus surgery and excision of the lesion was subsequently undertaken. Histological analysis confirmed the mass lesion as a haemangioma. This case report is the first to present a maxillary haemangioma presenting as nasal obstruction with intermittent sinusitis symptoms in a child. The authors discuss the incidence, presentation and management of maxillary haemangiomas in the paediatric population.
      Keywords: Ear, nose and throat, Open access, Rare disease, Drugs and medicines, Neurology, Headache (including migraine), Ear, nose and throat/otolaryngology
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230696
      Issue No: Vol. 12, No. 8 (2019)
       
  • Cervical spine hangman fracture secondary to a gelastic seizure
    • Authors: Hurley, C. M; Baig, M. N, Callaghan, S, Byrne, F.
      Abstract: A 42-year-old man reported to our service with a 1-week history of vague cervical neck pain on a background history of a gelastic seizure disorder. Radiological imaging confirmed a type II hangman’s fracture through the C2 pedicle. A CT angiogram of carotid and vertebral arteries was normal, and the patient was managed with an occipitocervical fusion. The patient had no neurological insult and was discharged on day 5 with a Miami-J collar for 6 weeks. Although there are case report evidence of lumbar and thoracic vertebral fractures secondary to seizures, this is the first report of a spine injury resulting from a gelastic seizure.
      Keywords: Surgery, Unusual presentation of more common disease/injury, Neurology, Spinal cord, Neurosurgery, Orthopaedic and trauma surgery
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230733
      Issue No: Vol. 12, No. 8 (2019)
       
  • Vasculitis on brain angiography is not always vasculitis: intravascular
           large B-cell lymphoma mimicking central nervous system vasculitis
    • Authors: Rayfield, C; Mertz, L, Kelemen, K, Aslam, F.
      Abstract: A 68-year-old man, with a history of non-Hodgkin’s lymphoma in remission, was admitted for homonymous hemianopsia, headaches and subacute progressive cognitive decline. Imaging revealed brain infarcts and angiography suggested vasculitis. A brain biopsy, however, revealed an intravascular large B-cell lymphoma (IVLBL). Central nervous system (CNS) vasculitis and IVLBL of the brain are extremely rare diseases that can have an almost identical clinical presentation. Angiographic findings are very similar but usually are reported as compatible with vasculitis. Brain biopsy or a random skin biopsy are crucial in diagnosing IVLBL as the accuracy of angiographic findings for CNS vasculitis is low.
      Keywords: Oncology, Reminder of important clinical lesson, Neurology, Neuroimaging, Neurooncology, CNS cancer, Rheumatology, Vascularitis
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230753
      Issue No: Vol. 12, No. 8 (2019)
       
  • Tomoelastography for non-invasive detection and treatment monitoring in
           acute appendicitis
    • Authors: Marticorena Garcia, S. R; Hamm, B, Sack, I.
      Abstract: Acute appendicitis is the most common cause of the acute abdomen syndrome and can be treated either surgically or conservatively with antibiotics. This case demonstrates the first time use of mechanics based MRI by tomoelastography with generation of quantitative maps of tissue stiffness (shear wave speed in m/s) and tissue fluidity (shear modulus loss angle, in rad) in a case of uncomplicated acute appendicitis with antibiotic treatment at (i) baseline, (ii) the end of treatment (EOT) and (iii) the 10 day follow-up after EOT. Baseline maps of stiffness and fluidity revealed to the naked eye the extent of intestinal inflammation by markedly increased values of stiffness and fluidity (2.56±0.12 m/s, 1.37±0.24 rad) compared with normal values, indicating the immediate response to antibiotic treatment at EOT (1.47±0.28 m/s, 0.80±0.11 rad) and persistent normalisation at follow-up (1.54±0.22 m/s, 0.92±0.22 rad). Tomoelastography is a non-invasive, quantitative imaging method for mechanics based characterisation and follow-up of acute appendicitis.
      Keywords: Drugs: gastrointestinal system, Infection (gastroenterology), Drug therapy related to surgery, Gastroenterology, Editor's choice, Novel diagnostic procedure, Drugs and medicines, Radiology
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230791
      Issue No: Vol. 12, No. 8 (2019)
       
  • Massive infected ascites in an immunocompetent patient with
           gastrointestinal tuberculosis
    • Authors: Saliba, C. C; Tomacruz, I. D. V, Javier, M. L. M. M, Co, H.
      Abstract: Mycobacterium tuberculosisis highly endemic in the Philippines. The diagnosis is challenging with its non-specific presentation and the organism could extend to any of the organs. Interestingly, bacterial peritonitis arising spontaneously from gastrointestinal tuberculosis (TB) in an otherwise healthy, non-cirrhotic patient is quite unusual. In this paper, we discuss the case of a 27-year-old HIV-seronegative woman with massive intraperitoneal mixed bacterial and tuberculous abscess presenting 20 months after being diagnosed with bacteriologically confirmed gastrointestinal TB. Repeated large-volume paracentesis was done to drain out the infected ascites instead of inserting a percutaneously implanted catheter. Clinical improvement was noted and she was discharged after 12 days of intravenous antibiotics. She had completed 6 months of antituberculosis therapy and been well since then. The case has demonstrated that repeated paracentesis along with appropriate antibiotic regimen, may be a viable option for patients with TB and bacterial coinfected peritonitis. And possibly, peritoneal TB may increase the risk for (spontaneous) bacterial peritonitis.
      Keywords: Infection (gastroenterology), Infections, Gastroenterology, Infectious diseases, Unusual association of diseases/symptoms, Drugs and medicines, TB and other respiratory infections
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230794
      Issue No: Vol. 12, No. 8 (2019)
       
  • Severe scurvy in a patient with eosinophilicoesophagitis
    • Authors: Weitzel, K; Moon, N.
      Abstract: While scurvy is considered to be a rare disease in the modern era, the disease still presents in certain populations with nutritional deficiencies such as those with poor nutritional absorption secondary to gastrointestinal disorders and in patients with poor nutritional intake. We present a case of scurvy in a patient who had eosinophilic oesophagitis which limited his oral intake. He presented with the classic symptoms of scurvy including a perifollicular rash, arthralgia, gingivitis and anaemia. He was treated with intravenous vitamin C initially followed by an oral course after which he showed improvement. This case demonstrates that it is important to consider vitamin C deficiency in patients with who present with anaemia and bleeding stigmata specifically in those who have poor nutritional intake. Furthermore, additional consideration should be given to patients with malnutrition as part of the preoperative evaluation.
      Keywords: Gastroenterology, Nutrition and metabolism, Oesophagus, Rare disease, Diet, Malnutrition, Vitamins and supplements
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230800
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rhabdomyolysis: a rare adverse effect of levetiracetam
    • Authors: Thomas, L; Mirza, M. M. F, Shaikh, N. A, Ahmed, N.
      Abstract: A 62-year-old previously healthy male was admitted with new onset generalised tonic-clonic seizures. Treatment was initiated with the antiepileptic levetiracetam and he had no further episodes of seizures. Creatine kinase (CPK) level was 1812 IU/L 12-hour postadmission. Despite good hydration, his CPK levels continued to rise dramatically and reached a level of 19 000 IU/L on day 5. This rise was unexplained as he did not have any further seizures and had a normal renal function. In the absence of other risk factors, the rare possibility of levetiracetam being responsible for the disproportionately high CPK was considered. Within 12 hours of withdrawal of levetiracetam, there was a downward trend in the CPK levels, with a 10-fold decrease in CPK levels over the next 4 days. This is only the ninth case reported in literature regarding this rare and potentially serious adverse effect of levetiracetam.
      Keywords: Musculoskeletal and joint disorders, Neurology (drugs and medicines), Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Neurology, Epilepsy and seizures
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230851
      Issue No: Vol. 12, No. 8 (2019)
       
  • Bilateral femoral neck stress fractures in a high-performance young female
           runner
    • Authors: Jasqui-Remba, S; Jasqui-Bucay, A, Jasqui-Bucay, A, Fernandez-De-Lara-Barrera, Y.
      Abstract: A 16-year-old female patient showed up at the orthopaedics unit complaining of intolerable pain on her left hip. While being questioned and her clinical history written down, she shared that as part of her daily exercise routine, she ran 10 miles (16 km) daily at a speed of 9.5–10.5 mph (15–17 km/hour). MRI was consequently ordered, confirming the presence of a stress fracture. Therefore, immediate suspension of physical activity was indicated, followed by the prescription of crutches as well as restricted weight bearing. Gradually, she recovered complete functionality and approximately a month after she had entirely healed. While on a skiing trip, again she abruptly developed an acute pain on her right hip. Another MRI was ordered; its result confirmed a new stress fracture. Her previous treatment has proved so successful, a conservative approach was once again prescribed for her, showing optimum results 6 months later.
      Keywords: Rare disease, Orthopaedics, Sports and exercise medicine
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-230900
      Issue No: Vol. 12, No. 8 (2019)
       
  • Atypical presentation of thyroid storm: a diagnostic dilemma
    • Authors: Banerjee, A; Bala, R, Aggarwal, R.
      Abstract: Thyroid storm (accelerated hyperthyroidism) is an uncommon life-threatening emergency. The diagnosis is difficult and at times delayed owing to atypical presentation. Early diagnosis is the key to its successful management. We came across a patient who had presentations of acute abdomen but later diagnosed in thyroid storm. Multiorgan involvement leads all resuscitative measures futile and prevented us to salvage the patient.
      Keywords: Intensive care, Emergency medicine, Endocrinology, Unusual association of diseases/symptoms, Adult intensive care, Resuscitation, Thyroid disease
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-231090
      Issue No: Vol. 12, No. 8 (2019)
       
  • Spontaneous splenic rupture: a rare first presentation of diffuse large B
           cell lymphoma
    • Authors: Dunphy, L; Abbas, S. H, Patel, A, Tebala, G.
      Abstract: Spontaneous splenic rupture (SSR) is a rare but potentially life-threatening entity. It can be due to neoplastic, infectious, haematological, inflammatory and metabolic causes. An iatrogenic or an idiopathic aetiology should also be considered. Depending on the degree of splenic injury and the haemodynamic status of the patient, it can be managed conservatively. A 61-year-old man presented to the emergency department with an acute abdomen, hypovolaemic shock and clotting abnormalities. However, his focused assessment with sonography for trauma showed no evidence of an aortic aneurysm, rupture or dissection. Further investigation with a CT angiogram aorta confirmed a subcapsular splenic haematoma with free fluid in the pelvis and a mass in the superior pole of the spleen. He was diagnosed with an SSR. He was initially managed non-operatively. However, his repeat CT showed an enlarging haematoma and he underwent embolisation of his splenic artery. Ultrasound-guided core biopsy of his splenic mass confirmed the diagnosis of diffuse large B-cell lymphoma. This paper will discuss the clinical presentation, differential diagnosis and management of SSR. Furthermore, it provides an important clinical lesson to maintain a high index of clinical suspicion for splenic injury in patients presenting with left upper quadrant abdominal pain radiating to the shoulder. This case also reinforces the importance of close observation and monitoring of those individuals treated conservatively for signs of clinical deterioration.
      Keywords: Emergency medicine, Surgery, Rare disease
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-231101
      Issue No: Vol. 12, No. 8 (2019)
       
  • Giant left atrial appendage aneurysm and atrial fibrillation: chicken or
           the egg'
    • Authors: Khanra, D; Tiwari, P, Kodliwadmath, A, Duggal, B.
      Keywords: Cardiovascular medicine, Images in..., Arrhythmias
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-231300
      Issue No: Vol. 12, No. 8 (2019)
       
  • An infant with epilepsy: dont forget the importance of skin examination
    • Authors: Madaan, P; Rao Pala, N, Saini, L.
      Keywords: Paediatrics, Images in..., Neurology, Epilepsy and seizures, Dermatology
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-231818
      Issue No: Vol. 12, No. 8 (2019)
       
  • Pityriasis lichenoides et varioliformis acuta as presenting feature of
           acute human immunodeficiency virus infection
    • Authors: Relvas, M; Santiago, L, Cardoso, J. C, Oliveira, H.
      Keywords: Infectious diseases, Images in..., HIV / AIDS, Dermatology
      PubDate: 2019-08-26T05:25:59-07:00
      DOI: 10.1136/bcr-2019-231864
      Issue No: Vol. 12, No. 8 (2019)
       
  • An unusual cause of paraesthesia in a neo-adjuvant gastro-oesophageal
           cancer
    • Authors: Derby, S; Graham, J, McIntosh, D.
      Abstract: There is ongoing debate about the best neo-adjuvant strategy for localised resectable oesophageal cancer, however chemotherapy is often employed. Both oesophageal cancer and cisplatin carry an increased risk of thrombosis. Here, we look at an unusual finding in a previously fit woman who presented following neo-adjuvant chemotherapy for resectable oesophageal cancer with increasing difficulty in walking and lower limb paraesthesia. This case looks particularly at the diagnostic challenge and concerns raised in a patient undergoing radical treatment as well as the challenge of complications secondary to treatment with chemotherapy. Willingness to reassess and revisit is a vital part of the diagnostic process. Vascular complications of a disease can be notorious to diagnose and, as in this case can mimic arguably more logical diagnoses. Cancer care provides the unique challenge of investigating unusual presentations related both to disease and treatment.
      Keywords: Cardiovascular medicine, Oncology, Unusual association of diseases/symptoms, Oesophageal cancer, Venous thromboembolism, Radiology
      PubDate: 2019-08-22T20:25:20-07:00
      DOI: 10.1136/bcr-2018-225450
      Issue No: Vol. 12, No. 8 (2019)
       
  • DPP-4 inhibitor (sitagliptin)-induced seronegative rheumatoid arthritis
    • Authors: Padron, S; Rogers, E, Demory Beckler, M, Kesselman, M.
      Abstract: Sitagliptin is a dipeptidyl peptidase-4 inhibitor commonly used in the treatment of type 2 diabetes mellitus for glycaemic control. Concerns have arisen regarding adverse events caused by this drug, particularly concerning arthralgias. Here, we report on a 56-year-old man being treated with sitagliptin who developed inflammatory arthritis after taking the drug for 6 months. The patient presented with pain, swelling and erythema in multiple joints and was eventually diagnosed with seronegative rheumatoid arthritis (RA) under the 2010 American College of Rheumatology/European League Against Rheumatism classification criteria. His symptoms continued for several months after stopping sitagliptin and eventually went into remission after a tapered course of steroids, hydroxychloroquine and methotrexate. Furthermore, the patient is HLA-DRB3 positive, a genetic marker that is still being investigated for its role in the pathogenesis of RA and that may have been a predisposing factor in the development of this patient’s inflammatory arthropathy.
      Keywords: Musculoskeletal and joint disorders, Endocrinology, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Pharmacology and therapeutics, Immunology (including allergy), Unwanted effects / adverse reactions,
      PubDate: 2019-08-22T20:25:20-07:00
      DOI: 10.1136/bcr-2018-228981
      Issue No: Vol. 12, No. 8 (2019)
       
  • A case of appendiceal mucinous cystadenoma which presented as painless
           purulent umbilical discharge
    • Authors: Al Buainain, L; Al Khaldi, T, Tahseen, W. M.
      Abstract: A 57-year-old obese, diabetic woman, presented with 1 day history of purulent umbilical discharge. She was vitally stable and afebrile. Abdominal examination revealed a full abdomen with purulent discharge from the umbilicus, swelling with erythema and induration surrounding the umbilicus. Lab tests were normal. Initial impression was abdominal wall abscess. Ultrasound showed subcutaneous fluid collection. Non-contrast CT showed collection and abdominal wall defect at the umbilicus. On exploration of the abscess cavity, there were two defects (umbilical and supraumbilical) with appendix protruding through the umbilical defect and a part of a small bowel and omentum adherent to the other defect. Wash was given, bowel and omentum were released and appendectomy was performed. Histopathology showed mucinous cystadenoma with periappendicitis. We would like to highlight the rare occurrence of an appendiceal mucinous cystadenoma in such a clinical presentation.
      Keywords: Surgery, Unusual presentation of more common disease/injury, General surgery
      PubDate: 2019-08-22T20:25:20-07:00
      DOI: 10.1136/bcr-2019-229222
      Issue No: Vol. 12, No. 8 (2019)
       
  • Unusual cause for intestinal perforation in juvenile dermatomyositis
    • Authors: Bhaskaran, H; Balan, S.
      Abstract: We report a case of juvenile dermatomyositis (JDM) with cytomegalovirus (CMV) colitis which was further complicated with perforation. The patient, a 6-year-old girl, was diagnosed with JDM 1 month prior to the current presentation. After 2 weeks of optimising her treatment with steroid, intravenous Ig and methotrexate, she was readmitted with diffuse abdominal pain. Erect abdominal X-ray revealed gas under diaphragm. An exploratory laparotomy showed perforation of the large intestine. A biopsy showed inclusion bodies of CMV with immunohistochemistry for CMV positive. Strong positive CMV DNA PCR from tissue specimen, positive IgG CMV and negative IgM CMV in blood suggested a reactivation of CMV. The treatment followed included surgery and strategic use of antiviral agents as well as immunomodulators. CMV enteritis with complications should also be suspected in optimally treated autoimmune disease patients, including JDM, when they present with abdominal symptoms.
      Keywords: Infection (gastroenterology), Gastroenterology, Paediatrics, Surgery, Unusual association of diseases/symptoms, Immunology (including allergy), Rheumatology
      PubDate: 2019-08-22T20:25:20-07:00
      DOI: 10.1136/bcr-2019-229395
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rheumatoid meningitis can present MRI findings that mimic chronic subdural
           haematoma
    • Authors: Yagita, K; Shinde, A, Suenaga, T.
      Abstract: A 65-year-old woman with long-standing rheumatoid arthritis (RA) experienced a recurrent tingling sensation in her left arm followed by aphasia and a tingling sensation in her right arm. A subsequent imaging study showed bilateral subdural fluid accumulation and we initially diagnosed her with a transient ischaemic attack and chronic subdural haematoma (CSDH). The cerebral spinal fluid study revealed an inflammatory response without any indications of infection or malignant tumours. After a meningeal biopsy, we redefined the diagnosis to rheumatoid meningitis (RM), and the patient showed remarkable improvement with prednisolone administration. RM should be considered as an alternative diagnosis when examining central nervous system diseases in patients with RA, as RM presents a highly variable clinical picture with image findings similar to those of CSDH.
      Keywords: Learning from errors, Immunology (including allergy), Neurology, Neuroimaging, Pathology, Rheumatology, Rheumatoid arthritis
      PubDate: 2019-08-22T20:25:20-07:00
      DOI: 10.1136/bcr-2019-229642
      Issue No: Vol. 12, No. 8 (2019)
       
  • Osteochondroma of acromioclavicular joint
    • Authors: Baig, M. N; OMalley, S, Fenelon, C, Kaar, K.
      Abstract: Osteochondroma is the most common type of benign bone tumour. It is a benign chondrogenic lesion derived from aberrant cartilage from the perichondral ring, and it commonly presents in the proximal humerus, proximal femur and knee. Osteochondroma is usually solitary but can be multiple with patients with hereditary multiple exostoses. Malignant changes happen in approximately 1% of cases. Osteochondroma usually causes local pain or swelling. We discuss a unique case of an osteochondroma that highlights the fact that osteochondroma can occur in the most unlikely places, and they should be properly visualised via radiography to evaluate any extensions and compromised surrounding structures before surgical intervention.
      Keywords: Surgery, Stiff shoulder, Unusual presentation of more common disease/injury, Sports and exercise medicine, Orthopaedic and trauma surgery
      PubDate: 2019-08-22T20:25:20-07:00
      DOI: 10.1136/bcr-2019-230246
      Issue No: Vol. 12, No. 8 (2019)
       
  • Idiopathic localised dilatation of the intestine in adults
    • Authors: Rotigliano, N; Sauter, M, von Flüe, M, Steinemann, D. C.
      Abstract: Idiopathic localised dilatation of the intestine (ILDI) presenting in adults is rare and difficult to diagnose. Only 18 cases have been reported in the literature. We report a case of a 32-year-old woman presenting with abdominal pain and intermittent small bowel obstruction. After detailed radiological studies, the patient, known for Crohn’s disease, was scheduled for laparoscopy in the suspicion of small bowel stricture. A localised dilatation of the ileum was found intraoperatively and subsequently resected. A systematic review of this rare pathology in adults is carried out. ILDI should be part of the differential diagnosis in patients with unexplained abdominal pain or gastrointestinal bleeding in the presence of segmental dilatation of the intestine. Surgical resection is the treatment of choice.
      Keywords: Inflammatory bowel disease, Crohn's disease, Gastroenterology, Surgery, Small intestine, Rare disease, Gastrointestinal surgery
      PubDate: 2019-08-22T20:25:20-07:00
      DOI: 10.1136/bcr-2019-230443
      Issue No: Vol. 12, No. 8 (2019)
       
  • Update on management of hypertriglyceridaemia-induced acute pancreatitis
    • Authors: Sahu, K. K; Mishra, A. K, Lal, A, Silverman, E. S.
      Keywords: Gastrointestinal system, Emergency medicine, Endocrinology, Images in..., Drugs and medicines, Interventional cardiology, Radiology (diagnostics), Lipid disorders
      PubDate: 2019-08-22T20:25:20-07:00
      DOI: 10.1136/bcr-2019-231703
      Issue No: Vol. 12, No. 8 (2019)
       
  • Epithelial to mesenchymal transition in endomyocardial biopsies from
           orthotopic heart transplant recipients
    • Authors: George, B; Rivera Rolon, M. D. M, Mohit, S, Stevenson, H. L.
      Abstract: Epithelial to mesenchymal transition (EMT) occurs when cells lose morphological features of epithelial cells, such as cell-to-cell adhesion, and gain features of mesenchymal cells, including elongation and flattening. These cells also lose expression of epithelial immunohistochemical markers. In this report, we present a 55-year-old Caucasian male patient who underwent orthotopic heart transplant and immunosuppressant therapy with tacrolimus and mycophenolic acid. Seven and a half months later, an endomyocardial biopsy revealed a hypercellular, atypical lesion. Evaluation was negative for acute cellular rejection and post-transplant lymphoproliferative disorder. Histopathologic features and immunohistochemical stains were consistent with EMT. We subsequently identified four additional cases of EMT in patients who underwent orthotopic heart transplantation and received a similar immune suppression regimen. EMTs have been reported to occur in lung and kidney allografts; however, this is the first known report describing this entity in a heart transplant recipient.
      Keywords: Cardiovascular medicine, Open access, Unusual presentation of more common disease/injury, Heart failure, Pathology
      PubDate: 2019-08-22T20:20:29-07:00
      DOI: 10.1136/bcr-2018-229175
      Issue No: Vol. 12, No. 8 (2019)
       
  • Chylous ascites during peritoneal dialysisin a toddler: a rare
           complication
    • Authors: Bhattacharya, D; Indla, R. T, Tiewsoh, K, Rathore, V.
      Abstract: Chylous ascites is a rare complication of peritoneal dialysis (PD) and is often mistaken for peritonitis. It usually resolves following conservative management and does not pose any risk to the dialysis procedure. We report the case of a 2-year-old boy, who developed chylous ascites at 36 hours of PD and spontaneously resolved within the next 48 hours.
      Keywords: Intensive care, Paediatrics, Reminder of important clinical lesson, Renal medicine, Acute renal failure, Dialysis, Paediatric intensive care
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-229848
      Issue No: Vol. 12, No. 8 (2019)
       
  • Abdominal wall endometriosis in a region distant to the caesarean section
           scar
    • Authors: Galazis, N; Kyriacou, C, Johnstone-Ayliffe, C, Nawar, M.
      Abstract: Abdominal wall endometriosis (AWE) is a rare entity presenting as a painful lump with a cyclical pattern, associated with previous caesarean section (CS). AWE is typically located at the site of the CS scar. The diagnosis is challenging in the rare instance when AWE presents at a location distant to the CS scar. A 37-year-old patient presented to a general surgeon with a 2-year history of left-sided, periumbilical pain exacerbated during her menstrual periods. A 3 cm firm and tender nodule was noted clinically. Intraoperatively, the nodule involved the rectus muscle and infiltrated the peritoneum. Histology confirmed endometriosis, and the patient recovered uneventfully. The rarity of this clinical entity and the fact that AWE mostly presents to non-gynaecologists make the diagnosis challenging prolonging its physical and psychological morbidity. Thorough history-taking with emphasis on the pattern of pain and a previous history of CS should raise suspicion of AWE.
      Keywords: Obstetrics, gynaecology and fertility, Surgery, Unusual presentation of more common disease/injury, Drugs and medicines, General surgery
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-229889
      Issue No: Vol. 12, No. 8 (2019)
       
  • Life-threatening bleeding due to persistent dabigatran effect in a patient
           with sepsis despite idarucizumab therapy and haemodialysis
    • Authors: Humphries, K; Huggan, P, Stiles, M, Martynoga, R.
      Abstract: A 58-year-old man presented with necrotising fasciitis and septic shock requiring urgent surgical debridement. Idarucizumab was used preoperatively to reverse the effects of dabigatran, which he was taking for chronic atrial fibrillation. He developed multiorgan failure including an oliguric acute kidney injury and was given continuous venovenous haemodiafiltration. Adjunctive intravenous immunoglobulin therapy was used in addition to his antibiotic therapy for necrotising fasciitis. Significant clinical and laboratory coagulopathy continued for over 12 days with evidence of a persistent dabigatran effect. Here, we discuss the potential impact of the immunoglobulin therapy, the patient’s weight on the degree of redistribution of dabigatran seen and the oliguria in the context of an acute kidney injury on the apparent lack of the effectiveness of idarucizumab.
      Keywords: Intensive care, Haematology (drugs and medicines), Drug interactions, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Pharmacology and therapeutics, Unwanted effects / adverse reactions, Renal medicin
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-230125
      Issue No: Vol. 12, No. 8 (2019)
       
  • Bilateral acetabular fractures induced by an epileptic seizure in a
           paediatric patient: a unique case and its management
    • Authors: Mohamed, N; Makaranka, S, Cheema, K, Harnett, P.
      Abstract: Bilateral acetabular fractures following epileptic seizures are a rare but known occurrence in adults, with an 18.5% mortality rate. These fractures occurring post epileptic seizures have not been previously documented in children. We report a case of a 13-year-old boy who presented to hospital via ambulance following two violent generalised tonic–clonic seizures in a postictal state, metabolically acidotic and a low haemoglobin. Acute abdomen was suspected and the patient underwent a CT scan which showed bilateral acetabular fractures with central dislocations of both femoral heads and free fluid in the abdomen. The patient underwent initial damage control intervention with insertion of bilateral distal femur skeletal traction. Definitive fixation of the acetabular fractures occurred 1 week later with an open reduction internal fixation with novel supra-pectineal plates using a Pfannenstiel incision. We use this report to increase awareness of significant pelvic injuries in paediatric patients post epileptic seizures.
      Keywords: Paediatrics, Unusual presentation of more common disease/injury, Orthopaedics
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-230143
      Issue No: Vol. 12, No. 8 (2019)
       
  • Haemolytic anaemia after mitral valve repair due to recurrent mild to
           moderate mitral regurgitation
    • Authors: Björkenheim, A; Cha, S.-O, Dioubanova, I.
      Abstract: A 52-year-old man underwent mitral valve repair for mitral regurgitation. Four months postoperatively, the patient developed dyspnoea, fatigue and dark urine. He presented to his primary care physician 6 months postoperatively, where an evaluation revealed anaemia and mild renal failure. The haemoglobinuria was misdiagnosed as gross haematuria and the patient consequently underwent several unnecessary invasive urological exams. A transthoracic echocardiogram showed a recurrent mitral regurgitation that was considered non-significant, before performing additional laboratory testing and a renewed echocardiogram. The above results showed evidence of haemolysis and a mild to moderate mitral regurgitation, although with a high velocity jet. The patient was diagnosed with haemolytic anaemia that necessitated blood transfusions and a reoperation with a mechanical valve, after which the patient made a full recovery. Importantly, it was mainly the velocity of the jet and not the severity of the mitral regurgitation that caused the mechanical trauma to red blood cells.
      Keywords: Cardiovascular medicine, Surgery, Urology, Reminder of important clinical lesson, Haematology (incl blood transfusion), Valvar diseases, Cardiothoracic surgery, Hematuria
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-230280
      Issue No: Vol. 12, No. 8 (2019)
       
  • Renal cholesterol crystal embolism in the setting of warfarin use
    • Authors: Munawar, T; Ibe, U, Jiwa, N, Raissi, S.
      Abstract: A 73-year-old man presented for evaluation of weakness and black tarry stools that occurred 1 day prior to admission. His medical history is significant for diabetes mellitus, stage 3 chronic kidney disease and deep vein thrombosis on warfarin. He was admitted to the hospital and was found to have acute kidney injury and gastrointestinal bleeding due to a supratherapeutic International Normalized Ratio. His hospital course was complicated by persistent decline in his renal function. He was given intravenous fluid resuscitation, fresh frozen plasma and packed red blood cells for his acute blood loss anaemia. Urinalysis was consistent with acute tubular necrosis. Given the persistent rise in creatinine, a kidney biopsy was obtained, and was significant for mild inflammatory changes, without evidence of vasculitis or allergic interstitial nephritis. Histopathological examination with tissue fixation revealed cholesterol embolisation. Given that he had no recent endovascular procedure or instrumentation, this atheroembolic event was attributed to his warfarin use.
      Keywords: Cardiovascular medicine, Rare disease, Drugs and medicines, Renal medicine
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-230314
      Issue No: Vol. 12, No. 8 (2019)
       
  • A rare cause of implantable cardiac defibrillator malfunction
    • Authors: Bussmann, B. M; Cox, A, Murgatroyd, F.
      Keywords: Cardiovascular medicine, Images in..., Interventional cardiology, Pacing and electrophysiology, Radiology (diagnostics)
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-230435
      Issue No: Vol. 12, No. 8 (2019)
       
  • Combined radio-immunotherapy leads to complete clinical regression of
           stage IV Merkel cell carcinoma
    • Authors: Principe, D. R; Clark, J. I, Emami, B, Borowicz, S.
      Abstract: Merkel cell carcinoma (MCC) is a rare, aggressive neuroendocrine tumour of the skin. While localised disease carries an overall favourable prognosis, metastatic disease is associated with poor clincal outcomes. Most cases of metastatic MCC are managed with systemic chemotherapy or immunotherapy, though 5-year survival for these patients remains a dismal 17%. Here, we present the case of a 79-year-old man with MCC of the right ear with metastases to regional lymph nodes, ipsilateral parotid gland and thoracic spine. He was treated with a combination of first-line radiotherapy and concurrent immune checkpoint inhibition (avelumab), which led to complete clinical regression of disease with minimal adverse effects. This observation suggests that combined radio-immunotherapy warrants larger-scale investigation for use in patients with unresectable MCC.
      Keywords: Immunological products and vaccines, Oncology, Novel treatment (new drug/intervention; established drug/procedure in new situation), Drugs and medicines, Skin cancer, Radiotherapy
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-230518
      Issue No: Vol. 12, No. 8 (2019)
       
  • Type II polyglandular autoimmune syndrome: a case of Addisons disease
           precipitated by use of levothyroxine
    • Authors: Hoener, K; Sharma, T.
      Abstract: A 46-year-old woman was referred to the endocrinology clinic for evaluation of progressive fatigue, dizziness and treatment-resistant hypothyroidism. Initial laboratory results revealed hypothyroidism, hyponatraemia and hyperkalaemia. Liothyronine sodium (Cytomel) was initiated, which exacerbated her fatigue and dizziness. Suspecting adrenal insufficiency, an 08:00 cortisol level was obtained and found to be low with failure to increase following cosyntropin stimulation test. Diagnosis of primary adrenal insufficiency was confirmed via CT abdomen and pelvis revealing diminutive adrenal glands and elevated 21-hydroxylase antibody. Treatment was initiated with hydrocortisone 10 mg every morning and 5 mg at 16:00/day, with plan for patient follow-up in 3 weeks to assess need for mineralocorticoid replacement. Polyglandular syndromes are rare and have a wide variety of presentation. Thus, we recommend screening patients with a single autoimmune disorder who do not respond to conventional therapy to prevent possible life-threatening adrenal crisis.
      Keywords: Endocrinology, Medical management, Reminder of important clinical lesson, General practice / family medicine, Adrenal disorders, Thyroid disease
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-230760
      Issue No: Vol. 12, No. 8 (2019)
       
  • Isolated adrenocorticotropic hormone (ACTH) deficiency and Guillain-Barre
           syndrome occurring in a patient treated with nivolumab
    • Authors: Pierrard, J; Petit, B, Lejeune, S, Seront, E.
      Abstract: The increased use of immune checkpoint inhibitors (ICIs) has led to the observation of a variety of immune-related adverse events (irAEs). These irAEs occur usually within the first months after ICIs onset and can involve theorically all organs. We describe two rare irAEs occurring in a 70-year-old caucasian man who was treated with nivolumab for an advanced urothelial cancer of the left kidney. He developed an isolated adrenocorticotropic hormone deficiency that was diagnosed at week 19 and a neurological complication that appeared at week 79 and initially confounded with a lumbar spinal stenosis. Diagnosis of Guillain-Barré syndrome was finally confirmed with the complete resolution of symptoms after 5 days of intravenous immunoglobulin and corticosteroids. We highlight the importance of quickly recognising these potential life-threatening irAEs such as cortisol insufficiency and neurologic adverse events whose initially presentation could be non-specific.
      Keywords: Urinary and genital tract disorders, Immunological products and vaccines, Endocrinology, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Neurology, Neuromuscular disease, Adrenal disorders
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-230848
      Issue No: Vol. 12, No. 8 (2019)
       
  • Acute fibrinous organising pneumonia presenting as a cavitary lung lesion
           and treatment response to azithromycin
    • Authors: Aslam, W; Perez-Guerra, F, Jebakumar, D, Culver, D. A, Ghamande, S.
      Abstract: Acute fibrinous organising pneumonia is distinct from the classic diffuse alveolar damage, organising pneumonia and eosinophilic pneumonia. A 52-year-old woman presented with fever, productive cough, night sweats and left-sided pleuritic chest pain for a week. Physical examination was significant only for decreased breath sounds in the left infraclavicular area laterally. Imaging studies revealed a peripheral thick-walled left upper lobe cavitary lesion, left lower lobe consolidation and an enlarged subcarinal lymph node. She was treated with doxycycline for 10 days without improvement. Pertinent laboratory tests, microbiologic workup and fibre-optic bronchoscopy were non-diagnostic and a CT-guided left upper lobe lung biopsy revealed acute fibrinous organising pneumonia. She was treated with azithromycin with complete resolution of symptoms. To our knowledge, this is the first reported case of acute fibrinous organising pneumonia presenting as a cavitary lung lesion and the first with treatment response to azithromycin.
      Keywords: Infections, Unusual presentation of more common disease/injury, Drugs and medicines, Pathology, Radiology, Respiratory medicine, Pneumonia (respiratory medicine)
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-230868
      Issue No: Vol. 12, No. 8 (2019)
       
  • Varicella meningitis with concomitant genital shingles in an adolescent
    • Authors: Chan, S. H; Thoon, K. C, Nagarajan, N.
      Abstract: This case describes an uncommon presentation of herpes zoster in an adolescent with viral meningitis and concomitant genital shingles. A 15-year-old immunocompetent girl with background of well-controlled Graves’ disease presented with 3 days of fever, frontal headache, terminal neck stiffness and photophobia. This was preceded by 4 days of pain and itch over vaginal and anal region. She had one dose of varicella vaccination at 18 months old and developed mild primary varicella infection around 5 years of age. Varicella zoster virus DNA was detected both in cerebrospinal fluid and in vesicles over her right labial majora. While there is no international consensus on the recommended duration of treatment for zoster with neurological complications, she was treated with intravenous acyclovir for 10 days with good clinical response. Her fever, headache and neck stiffness resolved after 2 days and genital lesions resolved after 9 days of antiviral therapy.
      Keywords: Infectious diseases, Paediatrics, Unusual presentation of more common disease/injury, Meningitis, Dermatology
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-230898
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rare cause of abdominal angina
    • Authors: Oliveira, D. M; Nunes, I, Dias, P.
      Keywords: Anaesthesia, Medical management, Images in..., Pain (anaesthesia)
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-231024
      Issue No: Vol. 12, No. 8 (2019)
       
  • 'Poles apart presentation: diagnosis and management of iatrogenic
           posterior urethral false tract in cases of pelvic fracture urethral injury
           
    • Authors: Bansal, D; Kumar, S, Jain, S, Dogra, P. N.
      Abstract: Iatrogenic creation of false tract in posterior urethra while managing a case of pelvic fracture urethral injury is a dreadful complication. The spectrum of presentation ranges from complete urinary incontinence to urinary retention. We describe three such cases created due to railroading or attempted repair. Case 1 presented with total urinary incontinence following open perineal urethroplasty for posterior urethral trauma while two cases presented with failure to void after endoscopic or open surgical management for the same. One patient was managed with endoscopic resection of the septum between the false passage and true posterior urethra; two cases required redo urethroplasty. All patients voided well postoperatively and were continent. Surgeon experience and meticulous endoscopic evaluation are the keys to success. Forceful attempt at per urethral catheter placement in the acute setting should be avoided. Blind railroading of the catheter and unnecessarily forceful passage of suprapubic metal bougie during urethroplasty should be condemned.
      Keywords: Urology, Reminder of important clinical lesson, Catheterisation / catheter care
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-231166
      Issue No: Vol. 12, No. 8 (2019)
       
  • Down and out: acquired oculomotor nerve palsy
    • Authors: Singh, R. B; Shergill, S, Singh, K. P, Thakur, S.
      Keywords: Visual pathway, Images in..., Ophthalmology
      PubDate: 2019-08-21T20:49:22-07:00
      DOI: 10.1136/bcr-2019-231485
      Issue No: Vol. 12, No. 8 (2019)
       
  • Colonic pseudo-obstruction in a patient with Sheehans syndrome
    • Authors: Kaur, N; Schubart, U, Mandl, A.
      Abstract: A 56-year-old woman with a history of hypothyroidism and chronic constipation presented with an acute abdomen due to colonic pseudo-obstruction. Thyroid function tests were consistent with central hypothyroidism prompting intravenous administration of stress-dose glucocorticoids and levothyroxine. The patient then underwent emergency exploratory laparotomy with sigmoid resection and end-colostomy. The postoperative endocrine evaluation revealed that the patient had panhypopituitarism due to Sheehan’s syndrome (SS). The diagnosis had been missed by physicians who had been treating her for several years for presumed primary hypothyroidism with a low dose of levothyroxine, aimed at normalising a minimally elevated thyroid-stimulating hormone (TSH) level. This is the second reported case of SS presenting with colonic pseudo-obstruction and it illustrates the potential danger of relying on measurement of TSH alone in the evaluation and treatment of thyroid dysfunction.
      Keywords: Endocrinology, Learning from errors, Thyroid disease
      PubDate: 2019-08-21T20:49:21-07:00
      DOI: 10.1136/bcr-2018-228936
      Issue No: Vol. 12, No. 8 (2019)
       
  • Pregnant patient with acute abdominal pain and previous bariatric surgery
    • Authors: Leclercq, W. K; Uittenbogaart, M, Niemarkt, H. J, van Laar, J. O.
      Abstract: Pregnant women who previously had bariatric surgery may develop acute abdominal pain during pregnancy. Two patients, 38-year-old twin primigravida (gestational age of 24+6 weeks) and a 26-year-old woman (gestational age of 24+0 weeks), both of whom had laparoscopic gastric bypass surgery previously, developed abdominal pain. The patients both had diffuse abdominal pain in combination with normal blood tests and imaging. Patient B had undergone laparoscopy at another centre after 5 weeks of gestation for internal herniation. After referral to our multidisciplinary bariatric–obstetric–neonatal (MD-BON) team, diagnostic laparoscopy was advised as internal herniation was deemed possible. In both patients, internal herniation was indeed found in Petersen’s space and jejunal mesenteric defect, which was closed using laparoscopic surgery. Both women delivered healthy offspring afterwards. The presence of an MD-BON team allows for an increased awareness of potential long-term complications associated with earlier bariatric surgery in pregnancy.
      Keywords: Obstetrics, gynaecology and fertility, Emergency medicine, Nutrition and metabolism, Paediatrics, Surgery, Reminder of important clinical lesson, Drugs and medicines, Obesity (nutrition), Neonatal health, Gastrointestinal surgery
      PubDate: 2019-08-21T20:49:21-07:00
      DOI: 10.1136/bcr-2018-228962
      Issue No: Vol. 12, No. 8 (2019)
       
  • Large intra-abdominal cystic lymphangioma managed by laparoscopic partial
           excision and modified drain with no need for open resection
    • Authors: Choy, K. T; Hartslief, M.
      Abstract: A 57-year-old woman was referred to the emergency department after a CT scan ordered by her general practitioner to investigate her abdominal pain showed a large cystic mass. The simple cystic appearance with its location in the small bowel mesentery prompted a provisional diagnosis of cystic lymphangioma. However, concerns regarding the size, location and local involvement of neurovascular structures presented a technical surgical challenge. Here we present a case of minimally invasive laparoscopic drainage using a modified Jackson-Pratt drain that avoided a laparotomy and open resection.
      Keywords: Surgery, Novel treatment (new drug/intervention; established drug/procedure in new situation), Radiology, Gastrointestinal surgery
      PubDate: 2019-08-21T20:49:21-07:00
      DOI: 10.1136/bcr-2019-229227
      Issue No: Vol. 12, No. 8 (2019)
       
  • Massive hemoptysis: an unusual presentation of papillary thyroid carcinoma
           due to tracheal invasion
    • Authors: Aslam, W; Shakespeare, A, Jones, S, Ghamande, S.
      Abstract: A 67-year-man presented to the emergency department with massive hemoptysis, coughing up about 250 mL frank blood in 2–3 hours. Physical examination was significant for tachycardia, tachypnea and blood around the mouth. A CT of the chest did not reveal any aetiology of hemoptysis. Flexible fiberoptic bronchoscopy was remarkable for an actively oozing 1x1 cm sessile subglottic polyp on the anterior tracheal wall. CT neck revealed a 2.5x2.4 cm pretracheal soft tissue mass, bulging into the subglottic trachea. Fine needle aspiration confirmed papillary thyroid carcinoma with BRAF mutation. The patient underwent radical resection and surgical pathology confirmed a 2.5 cm papillary thyroid carcinoma with extensive extra-thyroid extension into the tracheal mucosa. Invasion of the trachea and surrounding structures like larynx and oesophagus is not usual for papillary thyroid carcinoma and may be associated with aggressive cancer behaviour and relatively poor outcome and prognosis.
      Keywords: Endocrinology, Oncology, Surgery, Unusual presentation of more common disease/injury, Carcinogenesis, Thyroid disease, Occupational and environmental medicine, Cancer
      PubDate: 2019-08-21T20:49:21-07:00
      DOI: 10.1136/bcr-2019-229330
      Issue No: Vol. 12, No. 8 (2019)
       
  • Preoperative radiation as part of a multidisciplinary strategy for a
           medically inoperable patient with a bleeding colon cancer
    • Authors: Peng, J. S; Lad, N. L, Spangenthal, E. J, Mattson, D. M, Nurkin, S. J.
      Abstract: An 84-year-old man with a history of deep vein thrombosis on warfarin and coronary artery disease presented with haematochezia and was diagnosed with an ascending colon cancer. He was short of breath with lower extremity oedema at the initial surgical consultation. Evaluation revealed an acute exacerbation of congestive heart failure, and further workup and treatment were recommended by the cardiology team. After multidisciplinary discussion, he underwent radiation for the control of bleeding, followed by cardiac catheterisation and placement of a bare metal stent. The patient subsequently underwent robotic-assisted right hemicolectomy. Pathology demonstrated a complete response, and the patient recovered uneventfully. He is alive swith no evidence of disease recurrence 12 months after surgery and 18 months after initial diagnosis.
      Keywords: Cardiovascular medicine, Oncology, Surgery, Unexpected outcome (positive or negative) including adverse drug reactions, Heart failure, Colon cancer, Radiotherapy, Gastrointestinal surgery
      PubDate: 2019-08-21T20:49:21-07:00
      DOI: 10.1136/bcr-2019-229488
      Issue No: Vol. 12, No. 8 (2019)
       
  • Thoracic spine metastasis presenting 18 years after complete resection of
           a phaeochromocytoma
    • Authors: Fadiga, L; Saraiva, J, Paiva, I, Carrilho, F.
      Abstract: Phaeochromocytomas are rare neuroendocrine tumours (NET) with malignant behaviour in about 10% of cases. The median time from the diagnosis of primary tumour and bone metastasis is 3.4 years. We report a case of a 66-year-old woman presenting with a hypertensive crisis and back pain. She has a history of a phaeochromocytoma completely resected 18 years before. MRI showed a neoplastic mass on the 10th thoracic vertebra (T10), with fracture and spinal cord compression. The CT-guided biopsy was consistent with metastasis of a NET. Therefore, she was treated with phenoxybenzamine and external beam radiotherapy. However, clinical (dorsal pain) and biochemical (ie, elevated chromogranin A) signs suggested persistent disease and the patient was treated with iodine-131 metaiodobenzylguanidine and T10 kyphoplasty. After 8 years, she remains clinically stable. This case demonstrates that phaeochromocytomas may reveal malignant behaviour several years after diagnosis, and therefore patients should be maintained under long term surveillance.
      Keywords: Surgery, Unusual presentation of more common disease/injury, Neurology, Neuroendocrinology, Spinal cord, Endocrine cancer, Surgical oncology
      PubDate: 2019-08-21T20:49:21-07:00
      DOI: 10.1136/bcr-2019-229621
      Issue No: Vol. 12, No. 8 (2019)
       
  • Simultaneous diagnosis of glioblastoma, cervical schwannoma, adrenal
           masses and growth hormone-secreting adenoma in a previously healthy
           patient
    • Authors: Shi, H; Wright, C. H, Rivera, T, Wright, J.
      Abstract: A constellation of newly diagnosed benign tumours and glioblastoma is an uncommon occurrence in a single individual. We present a case of a patient with a history of skin lipomas who presented with seizures and was found to have a left frontotemporal multifocal enhancing mass on MRI. Work-up for metastatic disease revealed a benign lung carcinoid tumour, a cervical schwannoma, adrenal masses, a growth hormone-secreting pituitary adenoma, and lastly a glioblastoma following brain biopsy.
      Keywords: Oncology, Surgery, Unusual association of diseases/symptoms, Neurology, Neurooncology, Head and neck cancer, Neurosurgery
      PubDate: 2019-08-21T20:49:21-07:00
      DOI: 10.1136/bcr-2019-229675
      Issue No: Vol. 12, No. 8 (2019)
       
  • Persistent free-floating pelvic trophoblastic cysts following an
           interstitial ectopic pregnancy
    • Authors: Crawford, K. D; Chen, M. J, Hou, M. Y, Creinin, M. D.
      Abstract: Persistent trophoblast after ectopic pregnancy has been demonstrated at the surgical site or as peritoneal implants. A 37-year-old woman (G5P2) experienced persistently low levels of beta-human chorionic gonadotropin (hCG) after surgical treatment for an interstitial pregnancy. Evaluation for persistent trophoblast, gestational trophoblastic neoplasm and heterophilic antibodies was negative. After 15 months without resolution, she elected for hysterectomy. We found four smooth, freely floating avascular cysts intraoperatively; pathological evaluation identified the cysts as trophoblastic tissue. Serum beta-hCG resolved postoperatively and remained negative at 1 year. Our case demonstrates the novel finding of trophoblastic tissue existing as free-floating cysts in the peritoneal cavity. With appropriate suspicion, these cysts can be identified on radiologic investigation and removed laparoscopically.
      Keywords: Obstetrics and gynaecology, Unusual association of diseases/symptoms, Pregnancy, Reproductive medicine
      PubDate: 2019-08-21T20:49:21-07:00
      DOI: 10.1136/bcr-2019-229732
      Issue No: Vol. 12, No. 8 (2019)
       
  • Intramuscular levothyroxine: a solution to a mental health related thyroid
           crisis
    • Authors: Laycock, K; Beale, C, Peters, C, Anderson, J.
      Abstract: A 53-year-old woman was admitted with thyroid storm and severe behavioural problems. She had longstanding bipolar affective disorder. She was psychotic and obstructed in-patient medical management for thyroid storm. She required one-to-one psychiatric nursing and was placed under section 3 of the Mental Health Act meaning she could be detained in hospital for psychiatric treatment for up to 6 months. She underwent a total thyroidectomy. Due to her paranoid mental state, she refused treatment and the administration of thyroid hormone replacement was difficult. Postoperatively, intramuscular levothyroxine was used effectively to stabilise her thyroid function. There are no consensus guidelines on the use of parenteral levothyroxine and intramuscular levothyroxine is rarely used. This case uniquely illustrates its utility with bi-weekly blood tests showing a fast and stable response to intramuscular hormone replacement.
      Keywords: Endocrinology, Psychiatry, Psychiatry (drugs and medicines), Novel treatment (new drug/intervention; established drug/procedure in new situation), Drugs and medicines, Psychotic disorders (incl schizophrenia), Drugs: endocrine system, Thyroid disea
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2018-228147
      Issue No: Vol. 12, No. 8 (2019)
       
  • Multimodality imaging approach in a patient with Klippel-Trenaunay
           syndrome
    • Authors: Ochoco, G. E. T. D; Enriquez, C. A. G, Urgel, R. J. D. L, Catibog, J. S.
      Abstract: Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder presenting with asymmetric limb hypertrophy, cutaneous capillary malformations and lower extremity varicosities. We discuss a 27-year-old man born with varicosities on both lower extremities, which progressively enlarged. Physical examination showed a grossly enlarged right hand. There were multiple compressible varicosities, diffuse port-wine stains on the right leg and limb-length discrepancy on the left leg. CT angiogram and Doppler ultrasound revealed several venous varicosities. Ectatic veins in the right leg converge into the lateral marginal vein of Servelle, an embryonic vein, typically seen in KTS patients. KTS is diagnosed clinically and imaging plays a role in differentiating this from other disease entities that present similarly. Doppler ultrasound is the initial imaging of choice to characterise varicosities and to identify thrombosis and reflux. Plain radiographs confirm limb hypertrophy. MRI and CT angiograms are useful to evaluate vascular anomalies and its accompanying soft tissue changes.
      Keywords: Surgery, Rare disease, Radiology, Vascular surgery
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2018-228257
      Issue No: Vol. 12, No. 8 (2019)
       
  • Recognition and management of congenital ichthyosis in a low-income
           setting
    • Authors: Saso, A; Dowsing, B, Forrest, K, Glover, M.
      Abstract: We report the case of a 3-week old girl in The Gambia who presented to hospital with an undiagnosed skin disorder evolving since birth. Using telemedicine to seek specialist dermatology advice abroad, she was diagnosed with and managed for suspected congenital lamellar ichthyosis. Poor early recognition and limited resources, for both acute and chronic care, created significant challenges to optimal management; these were overcome, in part, by adopting a common sense, back-to-basics approach to treatment and by empowering the parents to take ownership of their infant’s daily skin and eye care. This case highlights key global health issues associated with managing chronic, often debilitating, paediatric dermatological conditions in a low-income setting; namely, poor access to important diagnostic tools and medications, lack of experience and expertise in the management of severe skin disease and its associated complications, absence of long-term community support, alternative health beliefs and risk of sociocultural stigma.
      Keywords: Paediatrics, Open access, Global health, Ophthalmology, Congenital disorders, Dermatology
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2018-228313
      Issue No: Vol. 12, No. 8 (2019)
       
  • Utility of autonomic testing for the efficient diagnosis and effective
           pharmacological management of neurogenic orthostatic hypotension
    • Authors: Alam, S. b; Almardini, W, Suleman, A.
      Abstract: A 62-year-old man presented with a 2-year history of syncope, collapse and fluctuating blood pressure (BP). His medications included midodrine (10 mg, three times per day) and fludrocortisone (0.1 mg, two times per day), but neither treatment afforded symptomatic relief. Autonomic testing was performed. Head-up tilt table testing revealed a supine BP of 112/68 mm Hg (heart rate, 74 beats per minute (bpm)) after 6 min, which dropped to 76/60 mm Hg (83 bpm) within 2 min of 80° head-up tilt. Findings from a heart rate with deep breathing test and a Valsalva test were consistent with autonomic dysfunction. The patient was diagnosed with neurogenic orthostatic hypotension and treated with droxidopa (100 mg, two times per day; titrated to 100 mg, one time per day). After initiating treatment with droxidopa, the patient no longer reported losing consciousness on standing and experienced improvement in activities of daily living. These improvements were maintained through 1 year of follow-up.
      Keywords: Cardiovascular system, Medical management, Neurology (drugs and medicines), Open access, Reminder of important clinical lesson, Drugs and medicines, Neurology, Clinical neurophysiology, Interventional cardiology, Clinical diagnostic tests
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2018-228423
      Issue No: Vol. 12, No. 8 (2019)
       
  • Necrotising fasciitis complicating hand, foot and mouth disease
    • Authors: Smith, C; Scott, J.
      Abstract: A literature search confirmed no previous cases of necrotising fasciitis (NF) complicating hand,foot and mouth disease (HFMD). This report explores the case of a previously well 55-week-old Caucasian boy who attended accident and emergency with an acutely swollen right hand and atypical viral rash affecting the hands and face. He was admitted under plastic surgery and treated with intravenous antibiotics and fluid resuscitation for sepsis secondary to cellulitis. Following dermatological review of the rash, a clinical diagnosis of atypical HFMD was made. He deteriorated over the first 12 hours with progression of cellulitis despite intervention. Emergency exploration and debridement were performed for suspected NF. NF was subsequently confirmed by laboratory testing. He required 5 days in paediatric intensive care but made a full recovery. Recent reports highlight an increase in atypical cases of HFMD. Clinicians should be aware of the potential for superadded necrotising infection in cases of atypical HFMD.
      Keywords: Paediatrics, Surgery, Public health, Unusual association of diseases/symptoms, Dermatology, Plastic and reconstructive surgery
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2018-228581
      Issue No: Vol. 12, No. 8 (2019)
       
  • Case study of thyrotoxic cardiomyopathy
    • Authors: Alam, S. T; Zaman, J.
      Abstract: We present the case of a 65-year-old woman who was referred urgently from primary care with worsening breathlessness for 3 weeks, associated with tachycardia and left bundle branch block (LBBB). She had a background of type 2 diabetes, asthma and hypertension. Initial ECG revealed atrial fibrillation with the fast ventricular rate on the background of LBBB. ECHO findings were consistent with systolic impairment. Initial testing including checking thyroid function test revealed hyperthyroidism. It became evident that this patient had thyrotoxic cardiomyopathy. Early advice from the endocrine team was sought and the patient was treated with a combination of carbimazole and ivabradine. After a hospital stay, she made a remarkable recovery.
      Keywords: Cardiovascular medicine, Endocrinology, Rare disease, Heart failure, Arrhythmias, Thyroid disease
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2018-228896
      Issue No: Vol. 12, No. 8 (2019)
       
  • A case of Goods syndrome complicated by erythema multiforme
    • Authors: Glick, L. R; Wilson, W. W, Fletcher, M.
      Abstract: Good’s syndrome (GS) is a rare, adult-onset combined B cell and T cell immunodeficiency with an associated thymoma. These patients have an increased risk of bacterial, fungal, viral and opportunistic infections. This report describes a 75-year-old female patient who presented with a full body rash and an anterior mediastinal mass. She underwent a biopsy of her rash and mass, which revealed erythema multiforme and WHO Type A thymoma, respectively. During her hospitalisation, she was also found to have oropharyngeal candidiasis, methicillin-susceptible Staphylococcus aureus bacteraemia and herpes simplex virus type 2 (HSV-2) skin lesions. Based on the number of infections and severity of her rash, an immunocompromised state was suspected. Immunological testing revealed a B cell and T cell deficiency as well as low serum immunoglobulins. This combination of hypogammaglobulinaemia and thymoma led to a diagnosis of GS. While there have been many case reports of GS, this is the first report of the immunodeficiency presenting with erythema multiforme.
      Keywords: Infectious diseases, Rare disease, Immunology (including allergy), Respiratory medicine, Dermatology
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2019-229999
      Issue No: Vol. 12, No. 8 (2019)
       
  • Retained wound protector following abdominal surgery
    • Authors: Ali, N; Gandhi, S.
      Abstract: Medical devices which have been erroneously retained postoperatively has been a persisting problem encountered over many decades, despite rigid protocols and preventative measures being put in place. We present a case of a retained wound protector detected on CT following abdominal surgery, the first published report of its kind to our knowledge. Radiologists reporting the images should be familiar with commonly used medical devices. This case also highlights the importance of reviewing the CT scout imaging as an essential part of the study, particularly in the recognition of foreign bodies or medical devices. We re-emphasise the importance of effective and timely communication with the surgical team, should there be any suspicion of retained surgical appliance.
      Keywords: Surgery, Learning from errors, Radiology, Gastrointestinal surgery
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2019-230064
      Issue No: Vol. 12, No. 8 (2019)
       
  • Use of a surface magnet in the extraction of another magnet aspirated into
           the bronchus of a 7-year-old girl
    • Authors: Narang, S; Joshi, J, Vasudevarao, S. B, Rao, S.
      Abstract: A 7-year-old girl presented to the emergency room (ER) with alleged history of aspiration of a toy magnet. The challenge was to safely extract the foreign body. A bronchoscopic approach with forceps, or Dormia basket, or Fogarty catheter, was considered, but these approaches had disadvantages, such as slipping or impaction of the object, and oxygen desaturation. Applying principles of removal of intraocular metallic objects in ophthalmologic surgery using magnetism, the object was removed with the help of another larger surface magnet. The location of the foreign body was confirmed by bronchoscopy. A Fogarty catheter was introduced distal to the object, under bronchoscopic guidance. A strong surface magnet was then placed on the surface of the chest and under C-arm guidance, the object was moved from the bronchus to the trachea. Once at the vocal cords, the Fogarty catheter was inflated to prevent it from slipping back and the magnet was extracted using forceps.
      Keywords: Emergency medicine, Surgery, Paediatrics (drugs and medicines), Head and neck surgery
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2019-230107
      Issue No: Vol. 12, No. 8 (2019)
       
  • Traumatic Staphylococcus gallinarum endophthalmitis and detachment of a
           pallid retina
    • Authors: Kaur, P; Behera, U. C, Singh, A, Mitra, S.
      Abstract: A rare case of Staphylococcus gallinarum endophthalmitis with intraocular foreign body (IOFB) was managed successfully by vitrectomy, IOFB removal and intravitreal antibiotics with steroids. Intraoperatively, the inferior retina was noted to be pale, possibly secondary to arteriolar occlusion/inflammation. This pale retina detached while peeling the vitreous, but spontaneously reattached postoperatively within a week. The case report describes the natural course of an iatrogenic detachment of pallid retina and the outcome of an uncommon ocular infection.
      Keywords: Infections, Retina, Unusual presentation of more common disease/injury, Drugs and medicines, Ophthalmology
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2019-230126
      Issue No: Vol. 12, No. 8 (2019)
       
  • Meropenem-induced Stevens-Johnson syndrome/toxic epidermal necrolysis in a
           patient with known type IV penicillin hypersensitivity
    • Authors: Sameed, M; Nwaiser, C, Bhandari, P, Schmalzle, S. A.
      Abstract: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are considered variants of a disease continuum that results in a life-threatening exfoliative mucocutaneous disease. These are categorised as type IV cell-mediated delayed hypersensitivity reactions, and antibiotics are often implicated as a cause. Penicillins and other beta-lactam antibiotics are known to cause both immediate and delayed hypersensitivity reactions. While immediate IgE-mediated cross-reactivity between penicillins and carbapenems is well studied, less information on the risk of type IV delayed cell-mediated cross-reactivity between the two is available. We present a case of meropenem-induced SJS in a patient with documented history of SJS from amoxicillin. There are few cases of cross-reactivity with carbapenems reported in the literature, but based on the potential for life-threatening reaction, it is likely prudent to avoid the use of any beta-lactams in a patient with a history of SJS, TEN or any other severe cutaneous adverse reactions to another beta-lactam antibiotic.
      Keywords: Contraindications and precautions, Infectious diseases, Reminder of important clinical lesson, Drugs and medicines, Drugs: infectious diseases, Dermatology
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2019-230144
      Issue No: Vol. 12, No. 8 (2019)
       
  • Microscopic polyangiitis masquerading as a pancreatic neoplasm with
           multiple lung metastases
    • Authors: Suzuki, M; Okata, H, Sakata, H, Sato, H.
      Abstract: A 71-year-old man was admitted to our hospital with right lower abdominal pain. Blood analysis indicated severe inflammation, and abdominal CT revealed a pancreatic head tumour and multiple lung nodules. The level of a tumour marker was high. Pancreatic cancer with multiple lung metastases was suspected; however, because the mass was not detected via endoscopic ultrasonography, it was not biopsied. The serum creatinine level increased rapidly with a urine disorder, and myeloperoxidase-antineutrophil cytoplasmic antibody staining was positive. Severe rapidly progressive glomerulonephritis (RPGN) and microscopic polyangiitis were diagnosed, and high-dose glucocorticoid treatment was started. The patient’s high fever returned to normal, and the serum creatinine level declined. Because the RPGN was severe, cyclophosphamide was administrated, and the glucocorticoid was tapered. The pancreatic tumour regressed, the lung nodules disappeared, and the tumour marker level normalised during the treatment. Renal function improved, and maintenance haemodialysis was avoided.
      Keywords: Gastroenterology, Pancreas and biliary tract, Unusual presentation of more common disease/injury, Renal medicine, Acute renal failure, Rheumatology, Vascularitis
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2019-230356
      Issue No: Vol. 12, No. 8 (2019)
       
  • Optical coherence tomography angiography of foveal neovascularisation in
           proliferative diabetic retinopathy
    • Authors: Dhurandhar, D; Rani, P. K.
      Abstract: A 52-year-old man, a known case of type 2 diabetes mellitus and hypertension, who presented to us with bilateral diminution of vision since 1 year. He was diagnosed as a case of bilateral proliferative diabetic retinopathy and hypertensive retinopathy. A non-invasive imaging modality, optical coherence tomography angiography (OCTA), detected foveal neovascularisation in a background of diffuse diabetic macular oedema which would have been obscured by other investigations like fluorescein angiography.
      Keywords: Macula, Retina, Novel diagnostic procedure, Ophthalmology
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2019-230382
      Issue No: Vol. 12, No. 8 (2019)
       
  • Ectopic adrenocorticotrophic hormone syndrome (EAS) with
           phaeochromocytoma: a challenging endocrine case with a happy ending
    • Authors: Wan Muhamad Hatta, S. F; Lekkakou, L, Viswananth, A, Buch, H.
      Abstract: Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is rarely caused by a phaeochromocytoma. We report a case of a 51-year-old woman with an 8-year history of severe constipation who underwent extensive investigations including gastroscopy, colonoscopy, ultrasonography, colonic transit studies and isotope defeacography, which did not reveal any pathology other than slow colonic transit time. The unifying diagnosis of ectopic ACTH and phaeochromocytoma was made after the case was initially investigated for an adrenal incidentaloma. Multiple challenges had to be overcome prior to surgery for the functioning adrenal adenoma including management of refractory hypokalaemia, poor nutritional status, persistent hyperglycaemia, labile blood pressure and florid hypercortisolaemia driving the metabolic derangements. She underwent an uneventful left-sided adrenalectomy and required no medication thereafter with normal blood pressure, blood glucose and serum potassium and resolution of constipation and abdominal symptoms. In conclusion, patients with EAS related to phaeochromocytoma are rare and present with distinctive diagnostic and management challenges but if diagnosed successfully and managed intensively, they are curable.
      Keywords: Gastrointestinal system, Endocrine system, Endocrinology, Rare disease, Drugs and medicines, Adrenal disorders
      PubDate: 2019-08-20T21:35:22-07:00
      DOI: 10.1136/bcr-2019-230636
      Issue No: Vol. 12, No. 8 (2019)
       
  • Ex situ liver resection and autotransplantation for advanced
           cholangiocarcinoma
    • Authors: George, A; Rammohan, A, Reddy, S. M, Rela, M.
      Abstract: Advanced cholangiocarcinoma especially those involving the vasculature have extremely limited options of cure. Ex situ liver resection entails performing a total hepatectomy, resecting the tumour on the back-table followed by reimplantation (autotransplantation) of the liver. Application of this technique for these tumours has rarely been done due to complexity of the procedure and the dismal prognosis of the lesions. We present our experience of two cases of advanced intrahepatic cholangiocarcinoma with limited extrahepatic disease who underwent ex situ resection with autotransplantation. They underwent preoperative therapy with a waiting period to assess the tumour biology. Both patients underwent ex situ resection with extended hepatectomy on the back table. Both patients remain well on follow-up 24 months and 20 months, respectively, with excellent quality of life. Despite its technical complexity, ex situ liver resection may offer prolonged overall survival in selected patients with advanced cholangiocarcinoma and limited extrahepatic disease.
      Keywords: Oncology, Surgery, Novel treatment (new drug/intervention; established drug/procedure in new situation), Hepatic cancer, Gastrointestinal surgery, Surgical oncology, Transplantation
      PubDate: 2019-08-19T21:13:44-07:00
      DOI: 10.1136/bcr-2019-230808
      Issue No: Vol. 12, No. 8 (2019)
       
  • Secreting clear cell tumour of the parathyroid
    • Authors: Bräutigam, K; Kaderli, R, Berezowska, S.
      Keywords: Endocrinology, Surgery, Images in..., Pathology, General surgery, Calcium and bone, Thyroid disease
      PubDate: 2019-08-19T21:13:44-07:00
      DOI: 10.1136/bcr-2019-231874
      Issue No: Vol. 12, No. 8 (2019)
       
  • Horseshoe lung associated with scimitar syndrome
    • Authors: Gonen, K. A; Canitez, Y, Bostan, O. M, Yazici, Z.
      Abstract: Horseshoe lung is a rare congenital anomaly and mostly accompanied by scimitar syndrome. Most aspects of this complex anomaly can be demonstrated via multidetector CT (MDCT). We present two baby girls who had horseshoe lung associated with right lung hypoplasia and scimitar vein. The chest roentgenograms showed displacement of the heart and mediastinum to the right with smaller right lung. Echocardiography revealed dextroposition, secundum atrial septal defect and bilateral slight peripheral pulmonary stenosis in the first case and dextroposition, severe pulmonary hypertension, secundum atrial septal defect and tricuspid regurgitation in the other one. On thoracic MDCT, the right lung and pulmonary artery were hypoplastic with cardiomediastinal shift to the right. There was an abnormal right pulmonary vein draining into the inferior vena cava on the lower zone of the right lung (scimitar vein). The posterobasal portions of the both lungs were fused through a midline isthmus behind the heart.
      Keywords: Cardiovascular medicine, Respiratory system, Rare disease, Drugs and medicines, Interventional cardiology, Mechanical ventilation, Radiology (diagnostics)
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2014-204389
      Issue No: Vol. 12, No. 8 (2019)
       
  • Hyponatraemia presenting as reversible cerebellar ataxia in Addisons
           disease
    • Authors: Arul, J. N; Rajkumar, M, Suja, L.
      Abstract: Addison’s disease is a common endocrinopathy often diagnosed in patients presenting with hyponatraemia. Cerebellar ataxia as a presentation of hyponatraemia is extremely rare. A 42-year-old man presented with vomiting, fever, ataxic gait and scanning type of dysarthria. Clinical examination revealed signs suggestive of isolated cerebellar involvement. Patient was found to have severe hyponatraemia and serum cortisol was found to be extremely low while MRI brain was found to be normal. Corticosteroid therapy was initiated and cerebellar ataxia was resolved following normalisation of sodium levels.
      Keywords: Endocrinology, Unusual presentation of more common disease/injury, Neurology, Brain stem / cerebellum, Adrenal disorders
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2018-227933
      Issue No: Vol. 12, No. 8 (2019)
       
  • Successful intravenous administration of argatroban in the management of
           heparin-resistant and surgery-resistant mesenteric vein thrombosis
    • Authors: Yokota, Y; Yoshioka, T, Senoh, M, Sunami, K.
      Abstract: A 78-year-old woman visited the emergency department with complaints of progressively worsening abdominal pain for a week. Nausea and vomiting started at the time of the visit. An abdominal contrast-enhanced CT (CECT) revealed a filling defect of portal vein, splenic vein and superior mesenteric vein (SMV) which was diagnosed as portal vein and mesenteric venous thrombosis (MVT). Intravenous administration of unfractionated heparin was initiated. However, her symptoms did not improve, and she underwent surgical thrombectomy on the second day of hospitalisation. On the sixth day, CECT revealed the recurrence of thrombi in the portal vein, SMV and along the central venous catheters. We switched heparin to argatroban on the eighth day. After administering argatroban, CECT revealed that the thrombi had almost disappeared by the 40th day. In this case, argatroban was considered effective for heparin-resistant and surgery-resistant portal vein and MVT.
      Keywords: Cardiovascular medicine, Gastroenterology, Open access, Novel treatment (new drug/intervention; established drug/procedure in new situation), Stomach and duodenum, Haematology (incl blood transfusion), Venous thromboembolism
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2018-228427
      Issue No: Vol. 12, No. 8 (2019)
       
  • A relapse of POEMS syndrome presenting as acute kidney injury
    • Authors: Rees, D. O; Thomas, D. H, Parry-Jones, N, Roberts, G.
      Abstract: Peripheral neuropathy, organomegaly, endocrinopathy, monoclonal protein and skin changes (POEMS) syndrome is a rare disease, and only in a minority of cases, causes an impairment of kidney function. Here, we describe a case of a 55-year-old man with a history of POEMS syndrome who presented with acute kidney injury following a routine blood test. On further investigation, a relapse in POEMS syndrome was diagnosed, uniquely isolated to renal involvement.
      Keywords: Rare disease, Haematology (incl blood transfusion), Renal medicine, Acute renal failure, Proteinurea
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2018-228894
      Issue No: Vol. 12, No. 8 (2019)
       
  • Takayasus arteritis: a unique ophthalmic presentation with CRAO and BRVO
    • Authors: Gupta, V; Luthra, S, Shrinkhal, N, Sinha, S.
      Abstract: A unique case of sequential occurrence of central retinal artery occlusion (CRAO) and superotemporal branch retinal vein occlusion (ST-BRVO) in a patient of Takayasu’s arteritis is described. An 18-year-old man was diagnosed as left eye CRAO on his initial presentation and was subjected to a complete cardiovascular evaluation revealing findings diagnostic of Takayasu’s arteritis. Patient was however lost to follow-up and presented 16 months later with ST-BRVO in the right eye. Multidisciplinary intervention and an appropriate ocular intervention led to complete recovery of vision in the right eye that was maintained until his last ophthalmic evaluation (2.5 years after the initial presentation). Though uncommon, small retinal vessel involvement can occur in Takayasu’s arteritis as the inaugural feature. Hence, CRAO or branch retinal vein occlusion in a young patient, especially a male, mandates a thorough systemic evaluation and a high index of suspicion of Takayasu’s arteritis to prevent vision threatening complications.
      Keywords: Cardiovascular medicine, Cardiovascular system, Retina, Unusual association of diseases/symptoms, Drugs and medicines, Immunology (including allergy), Interventional cardiology, Ophthalmology
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2018-228909
      Issue No: Vol. 12, No. 8 (2019)
       
  • An unusual case of neonatal seizures as manifestation of asymptomatic
           maternal hypoparathyroidism
    • Authors: LK, P; Kannan P, R, Shanbhag, M.
      Abstract: Neonatal hypoparathyroidism is one of the rare causes of hypocalcaemia. Several cases of neonatal hypoparathyroidism secondary to maternal hyperparathyroidism have been reported. In this case report, we have a term neonate with normal birth history who presented with late onset hypocalcemic seizures. After excluding polyendocrinopathies and related syndromes, hypocalcaemia seizures were secondary to maternal asymptomatic hypoparathyroidism. Since this is one variety of unusual case of maternal and fetal hypoparathyroidism, further testing was mandatory to confirm familial origin. This focuses on the need for every clinician to test maternal metabolic status in case of neonatal manifestations.
      Keywords: Endocrine system, Paediatrics (drugs and medicines), Unusual presentation of more common disease/injury, Drugs and medicines
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2018-229160
      Issue No: Vol. 12, No. 8 (2019)
       
  • Traumatic dissection of the coeliac artery and splenic injury following
           blunt trauma
    • Authors: Li, B. V; Damodaran Prabha, R, Narra, M, Nguyen, H.
      Abstract: An 18-year-old male patient presented to our regional referral hospital postcollapse at home. This was about 48 hours following a 2 m fall from a mountain bike. CT scan at presentation showed a grade 3/4 laceration at the splenic lower pole with some haemoperitoneum. He was managed conservatively. However, on day 4 he developed increasing abdominal pain which prompted repeat CT abdominal angiography. This scan did not show any further active bleeding from the spleen, however, a coeliac artery dissection was discovered, which was not evident on the first scan. After liaison with the vascular surgery team at a tertiary hospital, this was treated conservatively. Coeliac artery dissection following blunt trauma is an extremely rare occurrence, with fewer than 10 cases described in the literature. To our knowledge, this is the first case of concurrent splenic injury and coeliac artery dissection following blunt trauma to be reported.
      Keywords: Emergency medicine, Surgery, Reminder of important clinical lesson, General surgery, Vascular surgery, Trauma
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-229405
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rare presentation of ileocolic intussusception secondary to mantle cell
           lymphoma
    • Authors: Aukhojee, V; Gilong, C. M, Seewoogoolam, G, Strauss, P. N.
      Abstract: Mantle cell lymphoma is a type of B-cell non-Hodgkin’s lymphoma (NHL) and accounts for 3%–6% of all adult NHL. 1 2 Bowel intussusception secondary to lymphoma is rare in adults, accounting for only 4% of all cases. 3 The authors present the case of a 53-year-old man, recently diagnosed with mantle cell lymphoma, who presented with sudden onset right-sided abdominal pain and was found to have ileocolic intussusception up to the hepatic flexure on abdominal CT. He underwent an emergency right hemicolectomy and intraoperatively, the terminal ileum could be seen telescoping into the caecum, up to the hepatic flexure. Although intussusception is uncommon in the adult population, an underlying bowel pathology should always be considered and prompt imaging should be organised to confirm the diagnosis and allow initiation of management in a timely manner.
      Keywords: Oncology, Surgery, Rare disease, Intestinal cancer, Gastrointestinal surgery
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-229425
      Issue No: Vol. 12, No. 8 (2019)
       
  • Alport syndrome with bilateral simultaneous anterior and posterior
           lenticonus with severe temporal macular thinning
    • Authors: Gupta, V; Jamil, M, Luthra, S, Puthalath, A. S.
      Abstract: Alport syndrome (AS) is a hereditary disease with various modes of inheritance, X-linked being the the most common. Anterior lenticonus is the characteristic abnormality along with perimacular and peripheral fleck retinopathy. Our two cases of AS had simultaneous anterior and posterior lenticonus with severe temporal macular thinning on optical coherence tomography with no specific renal symptomatology and were diagnosed as AS without any invasive renal biopsy. First patient was a 19-year-old man who presented with compound myopia due to bilateral anterior and posterior lenticonus with perimacular fleck retinopathy and lozenge sign and bilateral moderate sensorineural hearing loss (SNHL). Second patient was a 24-year-old man who presented with difficulty in vision due to bilateral anterior and posterior lenticonus with bilateral severe SNHL. Our cases emphasise the crucial role of an ophthalmologist in diagnosing AS before the onset of renal symptoms and prompting further nephrological work-up in the patient or the carrier.
      Keywords: Macula, Reminder of important clinical lesson, Genetics, Genetic screening / counselling, Ophthalmology, Renal medicine, Chronic renal failure, Proteinurea, Ear, nose and throat/otolaryngology
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-229554
      Issue No: Vol. 12, No. 8 (2019)
       
  • Acute severe abdominal pain in a young woman caused by a
           well-differentiated papillary mesothelioma of the peritoneum
    • Authors: Bousema, J. E; van de Luijtgaarden, K. M, Wilhelmus, S, Poelman, M. M.
      Abstract: Acute abdominal pain is a common symptom in young women. We describe a patient with acute illness and severe lower abdominal pain. Laboratory tests were normal except for mildly deranged inflammatory markers. No abnormalities were reported on abdominal ultrasonography and MRI, whereas diagnostic laparoscopy revealed a tumour located dorsally from the uterus. We resected the tumour and pathology results showed a well-differentiated papillary mesothelioma of the peritoneum (WDPMP). Microscopy showed evidence of acute ischaemia in the resected lesion, which was likely the cause of the acute abdominal pain. WDPMP is a rare disease that arises from the serous membranes which does not seem to have a relation to asbestos exposure. Generally, WDPMP has a mild clinical course and good long-term prognosis.
      Keywords: Surgery, Rare disease, Pathology, Gastrointestinal surgery
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-229769
      Issue No: Vol. 12, No. 8 (2019)
       
  • Arm malignant peripheral nerve sheath tumour: a rare clinical presentation
    • Authors: Nascimento, R; Valenca-Filipe, R, Horta, R, Silva, A.
      Abstract: Soft tissue sarcomas account for about 1% of malignant tumours. More than 50 subtypes of these tumours have been described with some being extremely rare, namely malignant peripheral nerve sheath tumours (MPNST). The authors present a case of a man aged 81 years with a medical history of an adenocarcinoma of the rectum, which was referred to our clinic due to a growing painless mass on the right arm. An MRI showed a well-delimited encapsulated mass involving the long head of the biceps muscle. Biopsy findings revealed a spindle cell tumour with cytonuclear pleomorphism. The patient underwent wide tumour excision and was successfully reconstructed with a latissimus dorsi functional muscle transfer. The presence of two pulmonary nodules on CT scan staging implied a lung biopsy that showed rectum primary tumour metastases. With these additional findings, the pathology department reassessed the case and reclassified the arm tumour as an MPNST, synchronous with pulmonary adenocarcinoma metastases of the rectum.
      Keywords: Oncology, Surgery, Rare disease, Radiotherapy, Plastic and reconstructive surgery, Surgical oncology
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-229852
      Issue No: Vol. 12, No. 8 (2019)
       
  • Sweets syndrome with pulmonary involvement
    • Authors: Mehrtens, S. H; Hasan, Z. U, Halpern, S. M, McLornan, D. P.
      Abstract: Sweet’s syndrome is an acute febrile neutrophilic dermatosis with classical clinical features. Systemic manifestations in Sweet’s syndrome including fever, arthralgia, myalgia and ocular involvement are common. Pulmonary involvement is a rare manifestation that has been reported previously in 34 cases and can be fatal if left untreated. We report a striking case of Sweet’s syndrome with respiratory failure secondary to bilateral pulmonary interstitial infiltrates, which rapidly responded to intravenous corticosteroid therapy. This case is an important reminder of the systemic manifestations of Sweet’s syndrome and highlights the value of collaboration between different medical specialities to optimise patient management and outcomes.
      Keywords: Rare disease, Haematology (incl blood transfusion), Respiratory medicine, Dermatology
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-229997
      Issue No: Vol. 12, No. 8 (2019)
       
  • An unusual presentation of Legionella pneumonia in a returning traveller
    • Authors: Shorten, R. J; Norman, J, Sweeney, L. C.
      Abstract: A male patient in his mid-60s presented with a severe pneumonia following return to the UK after travel to Crete. He was diagnosed with Legionnaire’s disease (caused by an uncommon serogroup of Legionella pneumophila). He was pancytopenic on admission, and during a long stay on critical care he was diagnosed with a disseminated Aspergillus infection. Bone marrow aspiration revealed an underlying hairy cell leukaemia that undoubtedly contributed to his acute presentation and subsequent invasive fungal infection.
      Keywords: Intensive care, Infectious diseases, Unusual presentation of more common disease/injury, Pneumonia (infectious disease)
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-230130
      Issue No: Vol. 12, No. 8 (2019)
       
  • Port-wine stain, limb hypertrophy, dilated veins and blue sclera:
           Klippel-Trenaunay syndrome
    • Authors: Sharawat, I. K; Mohandoss, V, Saini, L.
      Keywords: Paediatrics, Images in..., Congenital disorders, Dermatology
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-230146
      Issue No: Vol. 12, No. 8 (2019)
       
  • Endovascular treatment of asymptomatic free-floating thrombus in the
           carotid artery bifurcation: a direct aspiration first-pass technique under
           double balloon protection
    • Authors: Yamaoka, A; Miyata, K, Iihoshi, S, Mikuni, N.
      Abstract: Free-floating thrombus (FFT) in the carotid artery has been reported as a rare cause of acute ischaemic stroke. There are various treatment strategies, but higher risk of distal embolism may limit their applicability. A 77-year-old woman noticed right upper arm weakness. A CT angiogram revealed that a large floating thrombus had strayed across the carotid bifurcation, while another thrombus was present in the right axillary artery. As for the carotid FFT, in spite of anticoagulation therapy, the number of asymptomatic microthrombuses gradually increased on diffusion-weighted MRI. We performed endovascular therapy utilising two temporary occlusion balloon catheters and performed direct aspiration with a reperfusion catheter. The procedure was uneventful. We successfully performed a new endovascular technique for FFT in the carotid bifurcation. Our method is effective, minimally invasive and safe.
      Keywords: Open access, Novel treatment (new drug/intervention; established drug/procedure in new situation), Neurology, Neuromuscular disease, Stroke, Radiology, Neurosurgery
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-230295
      Issue No: Vol. 12, No. 8 (2019)
       
  • Severe anaemic retinopathy in primitive neuroectodermal tumour
    • Authors: Alone, A. A; Agarwal, K.
      Keywords: Oncology, Retina, Images in..., Paediatric oncology, Ophthalmology
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-230365
      Issue No: Vol. 12, No. 8 (2019)
       
  • Simultaneous candida albicans and herpes simplex virus type 2 esophagitis
           in a renal transplant recipient
    • Authors: Gani, I; Kosuru, V, Saleem, M, Kapoor, R.
      Abstract: Renal transplant recipients are prone to opportunistic infections due to iatrogenic immunosuppression. Infectious esophagitis can present as an opportunistic infection in the post-transplant period. Common pathogens are candida, herpes simplex virus (HSV) and cytomegalovirus (CMV). Having a dual infection is uncommon and the diagnoses can be missed at initial presentation. Our patient, a 29-year-old African-American woman, status post deceased-donor-kidney transplant presented with difficulty and pain in swallowing with clinical features suggestive of candida esophagitis, confirmed by fungal culture. She did not get better with antifungal treatment. On further testing, the patient was found to have HSV-2 infection of the oesophagus as well. She received both fluconazole as well as acyclovir that lead to complete resolution of her symptoms. In the right clinical setting, esophagitis can be caused by more than one organism present at the same time and a high level of suspicion is warranted.
      Keywords: Endoscopy, Infection (gastroenterology), Infections, Gastroenterology, Infectious diseases, Open access, Reminder of important clinical lesson, Drugs and medicines, Hepatitis and other GI infections, Renal medicine, Renal transplantation
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-230410
      Issue No: Vol. 12, No. 8 (2019)
       
  • Severe acute toxoplasmosis infection following ustekinumab treatment in a
           patient with psoriasis vulgaris
    • Authors: Muslimani, M. A; Di Palma-Grisi, J.
      Abstract: A 26-year-old man undergoing therapy with 45 mg ustekinumab (Stelara) for chronic psoriasis vulgaris was referred by his general practitioner to an infectious diseases department for fatigue, fever, night sweating, generalised lymphadenomegaly and unexplained weight loss. Physical examination revealed bilateral occipital, cervical, axillary and inguinal lymphadenomegalies in addition to splenomegaly. Preliminary investigation revealed elevated Plasmodium lactate dehydrogenase and an inversion of the CD4/CD8 ratio. Whole-body spiral CT scanning with and without contrast showed splenomegaly and highlighted supradiaphragmatic and subdiaphragmatic lymphadenopathies. A complete Infectious Disease Test Panel revealed high levels of anti-Toxoplasma gondii antibodies. Immunoglobulin G avidity was negative. Peripheral blood lymphocyte phenotyping was performed to exclude underlying lymphatic neoplasia. The diagnosis of severe acute toxoplasmosis infection in the setting of immune response modifiers was made. Ustekinumab was suspended indefinitely and the patient underwent monthly serological tests to monitor the immune response until all symptoms resolved and the serological testing was negative for Toxoplasma.
      Keywords: Infections, Immunological products and vaccines, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-230415
      Issue No: Vol. 12, No. 8 (2019)
       
  • Graves disease complicated by fetal goitrous hypothyroidism treated with
           intra-amniotic administration of levothyroxine
    • Authors: Machado, C. M; Castro, J. M, Campos, R. A, Oliveira, M. J.
      Abstract: Fetal goitrous hypothyroidism is a rare entity and is caused mainly by maternal treatment of Graves’ disease (GD). We report a case of a 22-year-old woman referred at 12 weeks of gestation due to hyperthyroidism subsequent to recently diagnosed GD. She started treatment with propylthiouracil and, at 21 weeks of gestation, fetal goitre was detected. A cordocentesis confirmed the diagnosis of fetal goitrous hypothyroidism, and intra-amniotic administration of levothyroxine (LT4) was performed and repeated through the pregnancy due to maintenance of fetal goitre. The pregnancy proceeded without further complications and a healthy female infant was born at 37 weeks of gestation, with visible goitre and thyroid function within the normal range at birth. Although there is no consensus on the optimal dose, the number of injections and the interval between them, intra-amniotic LT4 administration is recommended once fetal goitrous hypothyroidism is suspected, in order to prevent long-term complications of fetal hypothyroidism.
      Keywords: Endocrinology, Obstetrics and gynaecology, Paediatrics, Rare disease, Pregnancy, Materno-fetal medicine, Thyroid disease
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-230457
      Issue No: Vol. 12, No. 8 (2019)
       
  • Myopericarditis as a presentation of eosinophilic granulomatosus with
           polyangiitis (EGPA)
    • Authors: Dey, M; Nair, J, Sankaranarayanan, R, Kanagala, P.
      Abstract: A 60-year-old woman was admitted to the hospital with worsening dyspnoea, cough and chest pain. This was on a background of weight loss, decreased appetite, mononeuritis multiplex, chronic eosinophilia and a single episode of a non-blanching rash. Investigations demonstrated a raised troponin and ischaemic changes on ECG, and she was therefore initially treated for a presumed myocardial infarction. However, her symptoms failed to improve with treatment for the acute coronary syndrome. A coronary angiogram revealed no significant flow-limiting disease, and further investigations yielded confirmation of raised eosinophils and a positive perinuclear antineutrophil cytoplasmic antibody test. An echocardiogram demonstrated a pericardial effusion, and subsequent cardiac magnetic resonance features were compatible with myopericarditis. In light of these findings, the patient was diagnosed with eosinophilic granulomatous with polyangiitis and commenced on high-dose intravenous methylprednisolone and cyclophosphamide. She made an excellent recovery and remains in remission on azathioprine and a tapering dose of corticosteroids.
      Keywords: Cardiovascular medicine, Unusual association of diseases/symptoms, Rheumatology, Vascularitis
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-230593
      Issue No: Vol. 12, No. 8 (2019)
       
  • Surgical approach to a left-sided gallbladder
    • Authors: Pereira, R; Perera, M, Roberts, M, Avramovic, J.
      Abstract: Biliary colic is a pain in the right upper quadrant or epigastrium thought to be caused by functional gallbladder spasm from a temporary obstructing stone in the gallbladder neck, cystic duct or common bile duct. A 56-year-old man presented with frequent episodes of typical biliary colic. At initial laparoscopy, the gallbladder was absent from its anatomic location. Further inspection revealed a left-sided gallbladder (LSGB), suspended from liver segment 3. Preoperative ultrasound, the most common imaging modality for symptomatic gallstones, has a low positive predictive value for detecting LSGB (2.7%). Laparoscopic cholecystectomy (LC) was delayed to attain additional imaging. A magnetic resonance cholangiopancreatography demonstrated the gallbladder left of the falciform ligament with the cystic duct entering the common hepatic duct from the left. The patient underwent an elective LC 8 weeks later. The critical view of safety is paramount to safe surgical dissection and could be safely achieved for LSGB.
      Keywords: Gastroenterology, Pancreas and biliary tract, Surgery, Rare disease, General surgery
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-230681
      Issue No: Vol. 12, No. 8 (2019)
       
  • Morphea masquerading as cellulitis
    • Authors: Sethu, C; Wong, K. Y, Slade-Sharman, D.
      Abstract: A case of morphea postbreast reconstruction is presented. It is a rare condition that can be easily mistaken for other inflammatory conditions or infection.
      Keywords: Skin, Surgery, Unusual presentation of more common disease/injury, Drugs and medicines, Dermatology, Breast surgery, Plastic and reconstructive surgery
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-230816
      Issue No: Vol. 12, No. 8 (2019)
       
  • Paediatric severe chronic spontaneous urticaria: successful management
           through conventional drug therapy
    • Authors: Poddighe, D; Brambilla, I, Licari, A, Marseglia, G. L.
      Abstract: Chronic spontaneous urticaria (CSU) can occur in children and the clinical management is quite challenging. Here, we described a paediatric clinical case of CSU successfully managed by conventional therapy, including systemic steroids, cetirizine, anti-leukotriene drug and dietary restriction (for histamine-releasing foods). This patient showed neither atopy nor any allergic sensitisation; moreover, the autologous serum skin test resulted negative. This category of patients with no comorbidity and no evidence of atopy might benefit from the conventional drug management; however, a protracted course of steroid treatment with very slow and gradual tapering may be needed. This approach was successful and safe in our clinical case, but a careful follow-up, due to the potential side effects of steroids, should be recommended.
      Keywords: Medical management, Paediatrics (drugs and medicines), Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Dermatology
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-230925
      Issue No: Vol. 12, No. 8 (2019)
       
  • Secretion from umbilicus
    • Authors: Sakamoto, T; Takase, H, Shimizu, T.
      Keywords: Surgery, Urology, Images in..., Urological surgery
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-231139
      Issue No: Vol. 12, No. 8 (2019)
       
  • Severe postoperative gastric outlet obstruction without nutritional
           deficiency
    • Authors: Al-Ghazal, T; Al-Zahir, A. A, Al-Momen, S. A, Meshikhes, A.-W. N.
      Keywords: Endoscopy, GI bleeding, Ulcer, Gastroenterology, Surgery, Images in..., Stomach and duodenum, General surgery
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-231734
      Issue No: Vol. 12, No. 8 (2019)
       
  • Viscoelastic cannula acting as a wrecker and saviour during cataract
           surgery
    • Authors: Yadav, S; Tandon, R, Singh, R, Pujari, A.
      Keywords: Medical education, Anterior chamber, Images in..., Ophthalmology
      PubDate: 2019-08-15T19:18:40-07:00
      DOI: 10.1136/bcr-2019-231778
      Issue No: Vol. 12, No. 8 (2019)
       
  • Application of the pinwheel flap for closure of a large defect of the
           scalp
    • Authors: Varnalidis, I; Mantelakis, A, Spiers, H. V. M, Papadopoulou, A. N.
      Abstract: A 74-year-old man had a resultant large oval scalp defect of 12x6 cm (72 cm2) following an excision of a stage IIIA melanoma. We decided to cover the defect with the pinwheel flap, with the aim to provide a good cosmetic result, preservation of hair follicles and minimal donor-site morbidity. This local flap has been traditionally used for much smaller defects. Four L-shaped flaps were designed at equal distances on the vertical and horizontal axes of the defect. The L-shaped flap had a length of 1.5 times the half diameter of the defect (4.5 cm). The incision was made through galea aponeurosis and subsequently undermined at least 3 cm to assist flap advancement. Z-plasties increased the rotation of the flap when it was required. This yielded an excellent reconstructive result at 1-year follow-up, demonstrating the usefulness of the pinwheel flap in large defects on the scalp region.
      Keywords: Skin, Novel treatment (new drug/intervention; established drug/procedure in new situation), Drugs and medicines, Dermatology
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-229420
      Issue No: Vol. 12, No. 8 (2019)
       
  • A rare case of Miller Fisher variant of Guillain-Barre Syndrome (GBS)
           induced by a checkpoint inhibitor
    • Authors: McNeill, C. J; Fehmi, J, Gladwin, J, Price, C.
      Abstract: With the recent development of novel, more potent cancer treatment, in particular, immune ‘checkpoint inhibitors’, cases of neurological immune-related adverse events are on the rise. Although rare, this includes Guillain-Barré Syndrome (GBS). We present the case of a 68-year-old male who was admitted with sudden onset of worsening neurological symptoms following immunotherapy treatment. These symptoms progressed quickly to respiratory failure requiring intubation and admission to the intensive care unit. He was thoroughly investigated and is believed to have an axonal neuropathy in the form of Miller Fisher Syndrome (MFS) variant of GBS, secondary to immunotherapy treatment. He was initially treated with intravenous immunoglobulin, and later, perhaps more effectively, with high dose steroids which significantly improved his symptoms. This case of checkpoint inhibitor-induced MFS is one of few in the literature and is an important reminder of the potential for new immunotherapeutic agents to cause significant neurotoxic effects. These should be promptly and thoroughly investigated, in particular, as the management of these patients can differ from standard treatments used in these conditions.
      Keywords: Intensive care, Oncology, Unexpected outcome (positive or negative) including adverse drug reactions, Pharmacology and therapeutics, Neurology, Neuro ITU, Unwanted effects / adverse reactions
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-229443
      Issue No: Vol. 12, No. 8 (2019)
       
  • Herpes simplex virus encephalitis in a patient receiving ustekinumab
           associated with extensive cerebral oedema and brainshift successfully
           treated by immunosuppression with dexamethasone
    • Authors: Van Den Tooren, H. K; Bharambe, V, Silver, N, Michael, B. D.
      Abstract: Herpes simplex virus (HSV) encephalitis affects 2–4 people per million/year. Immunocompomised patients can have atypical presentations of HSV encephalitis, including a lack of cerebrospinal fluid (CSF) pleocytosis. We present the case of a patient who was receiving ustekinumab therapy for psoriasis which inhibits interleukin (IL)-12 and IL-23 signalling pathways. The initial presentation was suggestive of encephalitis, but he was discharged prior to the reporting of HSV positivity due to the lack of CSF pleocytosis. On representation, he had worsening symptoms and imaging showed midline shift, indicating cerebral oedema despite the immunosupressant effects of ustekinumab. He required intensive care unit support and treatment with high dose aciclovir and dexamethasone; after a month of treatment he made a good recovery. This case is the first to report a link between ustekinumab and HSV encephalitis, and also emphasises that imunocompromised patients can lack CSF pleocytosis and develop significant cerebral oedema which responds to immune suppression.
      Keywords: Infections, Skin, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Pharmacology and therapeutics, Neurology, Infection (neurology), Neuro ITU, Unwanted effects / adverse reactions
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-229468
      Issue No: Vol. 12, No. 8 (2019)
       
  • A man with polycythemia vera, myelodysplastic syndrome and acquired
           microcytosis
    • Authors: Mann, M; Kreuzbauer, T, Sykes, D. B.
      Abstract: A 59-year-old white man with known myeloproliferative neoplasm (MPN) and myelodysplastic syndrome (MDS) presented with worsening leucocytosis and thrombocytosis in the setting of a presumed infection. The patient had been diagnosed 2 years earlier with an MPN/MDS overlap syndrome, based on characteristic mutations in JAK2, IDH1 and SRSF2. During his current evaluation, he was noted to have new microcytosis, with a mean corpuscular volume of ~70 fL down from his baseline of ~90 fL. His laboratory workup showed normal iron studies, normal haemoglobin electrophoresis, and no evidence of haemoglobin H or mutations in his ATRX coding region. Without any identifiable cause of his new microcytosis, he was given a presumptive diagnosis of acquired thalassemia in the setting of his unusual MPN/MDS overlap syndrome.
      Keywords: Medical education, Open access, Reminder of important clinical lesson, Haematology (incl blood transfusion)
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-229695
      Issue No: Vol. 12, No. 8 (2019)
       
  • Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion
           disorder
    • Authors: Jiang, A. A; Longardner, K, Dickson, D, Sell, R.
      Abstract: Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare cause of genetic prion disease. Overlapping neurological, cognitive and psychiatric symptoms make GSS difficult to diagnose based on clinical features alone. We present a 40-year-old man without relevant medical or family history who developed progressive neurocognitive and behavioural symptoms over 3 years. Initial extensive diagnostic workup of his variable motor symptoms was unrevealing and he was diagnosed with conversion disorder. This diagnosis persisted for over 2 years, despite progressive neurocognitive symptoms. He eventually developed dementia and severe neurological impairment. Repeat brain MRI revealed generalised cortical volume loss, establishing the diagnosis of a rapidly progressive neurodegenerative process. He ultimately died from aspiration pneumonia at age 43. Postmortem neuropathological examination showed widespread multicentric prion protein amyloid plaques characteristic of GSS. Ultimately, genetic testing of brain tissue revealed a heterozygous A117V variant in the PNRP gene, confirming the diagnosis.
      Keywords: Psychiatry, Rare disease, Neurology, Movement disorders (other than Parkinsons), Variant Creutzfeld-Jakob Disease, Somatoform disorders
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-229729
      Issue No: Vol. 12, No. 8 (2019)
       
  • Mandibulofacial dysostosis with microcephaly: a syndrome to remember
    • Authors: Silva, J. B; Soares, D, Leao, M, Santos, H.
      Abstract: Mandibulofacial dysostosis with microcephaly (MFDM) is a rare condition that causes abnormalities of the head and face. Other major extracranial malformations may also be found. The authors present a case of an MFDM in a 35 weeks newborn with antenatal growth restriction. The patient required resuscitation at birth and was diagnosed with oesophageal atresia with tracheoesophageal fistula at day 1. At physical examination he presented multiple congenital malformations including prominent forehead, plagiocephaly, low-set ears, malformed auricles, hypertelorism, downward-slanting eyes, micrognathia, everted lower lip, short neck, wide-spaced nipples and inguinal hernia. Imaging investigation showed dysplasia of the inner ear with agenesis of the vestibular–cochlear nerves and global cerebral atrophy. Analysis of the EFTUD2 gene revealed that the patient was a heterozygous carrier of a pathogenic mutation (c.831_832del[p.Lys277Asnsf*7]), which has not been previously described. This case illustrates the challenges faced in diagnosing and treating MFDM patients.
      Keywords: Paediatrics, Rare disease, Genetics, Genetic screening / counselling, Congenital disorders, Failure to thrive, Neonatal and paediatric intensive care
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-229831
      Issue No: Vol. 12, No. 8 (2019)
       
  • Giant gluteal lipoma surgical management
    • Authors: Litchinko, A; Cherbanyk, F, Menth, M, Egger, B.
      Abstract: Surgical treatment of lipomas is typically only considered when they are painful or unsightly. We present the case of a massive hip lipoma; with this extreme case, we show that the global prolongation of life expectancy can lead to other indications of removal.
      Keywords: Surgery, Open access, Rare disease, Dermatology, General surgery, Plastic and reconstructive surgery
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-229842
      Issue No: Vol. 12, No. 8 (2019)
       
  • Respiratory arrest requiring resuscitation as a rare presentation of
           obstructive sleep apnoea and hypothyroidism
    • Authors: Chiang, K. Y; Ma, T. S. K, Ip, M. S. M, Lui, M. M. S.
      Abstract: A 79-year-old man, who had significant cardiovascular morbidities, presented with out-of-hospital respiratory arrest. He regained breathing after brief cardiopulmonary resuscitation by his paramedic son. After meticulous investigations, acute cardiovascular events and metabolic causes were ruled out while features of obstructive sleep apnoea were elicited. The findings on in-laboratory polysomnography were compatible with severe obstructive sleep apnoea, with unusually prolonged apnoea duration of up to 2.7 min which most likely accounts for the presentation as ‘respiratory arrest’. Thyroid function test for investigation of his weight gain confirmed hypothyroidism. His symptoms improved gradually after positive airway pressure therapy with bi-level support and thyroxine replacement. On further evaluation, his hypothyroidism is believed to be a complication of long-term amiodarone exposure. The case highlights that the combination of obstructive sleep apnoea and hypothyroidism can lead to catastrophic manifestation and the unusually long apnoea could be a feature prompting further workup for possible hypothyroidism.
      Keywords: Endocrinology, Unusual presentation of more common disease/injury, Respiratory medicine, Sleep disorders (respiratory medicine), Thyroid disease
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-230163
      Issue No: Vol. 12, No. 8 (2019)
       
  • Sinonasal relapses of a primary isolated extranodal NK/T-cell lymphoma of
           the testis
    • Authors: Hallak, B; Cairoli, A, Bouayed, S, Berthod, G.
      Abstract: WHO first recognised extranodal NK/T-cell lymphoma (ENKTCL) in 2001, thanks to technical advances in anatomopathology and immunohistochemistry. It is divided into nasal and extranasal subgroups depending on the primary site. Primary isolated NK/T-cell lymphoma of the testis is rare. Typical recurrence sites of primary testicular NK/T-cell lymphoma are the gastrointestinal tract, lymph nodes, skin, spleen and central nervous system. Nasal relapses of a primary NK/T-cell lymphoma of the testis are very rare and according to our knowledge, no other case has been reported yet in the literature. The authors report the case of a 35-year-old Caucasian man relapsing twice in the nasal cavity 1 year after initial diagnosis and treatment of a primary isolated, stage IE, ENKTCL of the testis. We report the clinical and radiological presentation of the nasal relapses and the different modalities of treatment that were applied. Sinonasal relapses of an isolated primary NK/T-cell lymphoma of the testis are very rare. ENKTCL is a very aggressive entity, even at an early stage, therefore, requiring a multimodal treatment approach including chemotherapy and radiotherapy. New strategies to treat this disease are needed.
      Keywords: Cardiovascular medicine, Ear, nose and throat, Oncology, Open access, Rare disease, Drugs and medicines, Cancer -see Oncology, Radiotherapy
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-230221
      Issue No: Vol. 12, No. 8 (2019)
       
  • Metaphyseal dysplasia, Spahr type: a mimicker of rickets
    • Authors: Balasubramaniyan, M; Kaur, A, Sinha, A, Gopinathan, N. R.
      Abstract: Metaphyseal dysplasias are a heterogeneous group of skeletal dysplasias characterised by metaphyseal irregularities. Due to the presence of metaphyseal changes accompanied with bowing deformity of lower limb, they are likely to be mistaken for rickets. We present a case of a 7-year-old boy, finally diagnosed with metaphyseal dysplasia, Spahr type (MDST) (OMIM # 250400) after his exome sequencing revealed novel variations in the MMP13 gene (OMIM * 600108). This is a rare skeletal dysplasia with only a few cases reported in literature. A compilation of the presentation of the reported cases is given to help the reader understand this rare disorder. To the best of our knowledge, this case of MDST is the first to be reported from India.
      Keywords: Rare disease, Genetics, Orthopaedics
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-230257
      Issue No: Vol. 12, No. 8 (2019)
       
  • Oculomotor schwannoma causing a progressive complete third-nerve palsy
    • Authors: Bentley, E; Ved, R, Hayhurst, C.
      Abstract: A 69-year-old woman presented with an 8-month history of diplopia and examination findings consistent with a right third-nerve palsy. Head MRI identified the presence of a 5.8 mm, nodular, isointense lesion in the suprasellar cistern, which demonstrated enhancement with gadolinium contrast. The lesion did not show any evidence of growth over a 3-month follow-up period. These MRI findings, alongside the clinical features, suggest oculomotor nerve schwannoma. Oculomotor schwannomas are a rare cause of third-nerve palsy. The presenting features and management options for oculomotor schwannomas are discussed to provide a framework for the diagnosis and management of these patients.
      Keywords: Rare disease, Neurology, Neuroimaging, Neuroophthalmology
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-230272
      Issue No: Vol. 12, No. 8 (2019)
       
  • Renal tubular acidosis as the initial presentation of Sjögrens
           syndrome
    • Authors: Ho, K; Dokouhaki, P, McIsaac, M, Prasad, B.
      Abstract: We present a 44-year-old female with an initial presentation with distal renal tubular acidosis (RTA) after she presented with hypokalaemia and normal anion gap acidosis. Three years following the diagnosis, she presented with progressive renal impairment. In the absence of any clinical, biochemical and radiological clues, she underwent a renal biopsy which showed severe tubulitis secondary to lymphocytic infiltration. Serological investigations subsequently revealed positive anti-nuclear, anti-Sjögren’s syndrome related antigen A (SS-A), and anti-Sjögren’s syndrome related antigen B (SS-B) antibodies, supporting the diagnosis of Sjögren’s syndrome. This case is unique in that distal RTA was the presenting clinical manifestation of Sjögren’s syndrome. We hope that a consideration for Sjögren’s syndrome is made in patients with seemingly idiopathic RTA.
      Keywords: Renal system, Open access, Unusual association of diseases/symptoms, Drugs and medicines, Renal medicine, Acute renal failure, Rheumatology, Sjogren's syndrome
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-230402
      Issue No: Vol. 12, No. 8 (2019)
       
  • Aggressive type of central giant cell granuloma in a woman on hormone
           replacement therapy: a histopathological insight
    • Authors: Gautam, S; Grewal, M, Saini, N, Arora, K. S.
      Abstract: Quite a few lesions of the oral cavity specifically of the gingiva have a greater inclination towards women and mostly occur during the first four decades of life, the cause of which may be credited to the changing levels of sex hormones. Out of all such lesions, one lesion whose aetiology is still unclear and which originats from the periosteum or periodontal ligament is central giant cell granuloma. Repeatedly, it is has been described as a reactive lesion, the cause of which may be secondary to local irritants or trauma, specifically plaque or calculus, which is not considered to be a true neoplasm. Here we present a case of a 51-year-old female patient with aggressive gingival growth within 10–13 months of hormonal replacement therapy. The aetiology, histological features and appropriate treatment are discussed in the light of current literature.
      Keywords: Endocrine system, Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Dentistry and oral medicine
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-230847
      Issue No: Vol. 12, No. 8 (2019)
       
  • Hip arthrodiastasis combined with core decompression and diamond concept
           for postcollapse femoral head avascular necrosis
    • Authors: Papachristos, I. V; Rankine, J, Giannoudis, P. V.
      Abstract: In postcollapse hip avascular necrosis (AVN), the femoral head cannot be salvaged, necessitating total hip replacement. We report a case of a 39-year-old woman who developed idiopathic femoral head AVN with marked symptoms and radiological evidence of articular surface collapse. We treated her with core decompression combined with the ‘diamond concept’ (implantation of bone marrow concentrate, a growth factor and bone graft substitute) and distracted the hip joint with external fixator. Four years postoperatively the articular surface has been restored and the patient reports excellent quality of life. Hip arthrodiastasis with core decompression and ‘diamond concept’ regeneration could be considered a treatment option in advanced AVN of the femoral head.
      Keywords: Surgery, Orthopaedics, Orthopaedic and trauma surgery
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-231081
      Issue No: Vol. 12, No. 8 (2019)
       
  • High-grade B-cell lymphoma masquerading as peritoneal lymphomatosis
    • Authors: Kareff, S; Yin, C, Feigert, J.
      Abstract: Peritoneal lymphomatosis represents a rare presentation of any type of non-Hodgkin’s lymphoma, with relatively few cases reported in the literature. We present here the case of a 61-year-old man who originally presented with increased abdominal distention associated with shortness of breath and diaphoresis who was found to have evidence of peritoneal carcinomatosis on CT scan. Biopsy confirmed diffuse large B-cell lymphoma, and the working diagnosis was subsequently modified to peritoneal lymphomatosis. The patient was treated with dose-adjusted etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin and rituximab (DA-EPOCH-R) therapy with initially good response. His course was complicated by tumour lysis syndrome. We review the limited literature discussing peritoneal lymphomatosis and discuss the importance of facilitating rapid and efficacious treatment.
      Keywords: Oncology, Learning from errors, Radiology
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-231238
      Issue No: Vol. 12, No. 8 (2019)
       
  • Onychocryptosis and asymptomatic external urethritis as complications of
           oral isotretinoin therapy
    • Authors: Sivaraj, K; Friedman, J, Morrell, D.
      Abstract: This case report presents a patient who, while undergoing oral isotretinoin therapy for acne vulgaris, developed onychocryptosis and asymptomatic external urethritis. These uncommon adverse events are not well-documented in medical literature. While his urethritis spontaneously resolved, his onychocryptosis symptoms necessitated surgical intervention. This report illustrates both cosmetic and functional adverse effects of isotretinoin and provides insight into the progression of these reactions over time.
      Keywords: Urinary and genital tract disorders, Skin, Reminder of important clinical lesson, Drugs and medicines, Pharmacology and therapeutics, General practice / family medicine, Unwanted effects / adverse reactions, Dermatology
      PubDate: 2019-08-13T22:55:41-07:00
      DOI: 10.1136/bcr-2019-231387
      Issue No: Vol. 12, No. 8 (2019)
       
  • Macitentan in the treatment of severe digital ulcers
    • Authors: Goncalves, T; Santos, L.
      Abstract: Digital ulcers are one of the earliest and most disabling manifestations of systemic sclerosis (SSc). We report the clinical case of a female patient with SSc and severe digital ulcers, recurrent and refractory to the classic treatments to whom it was prescribed off-label macitentan with complete resolution of the condition.
      Keywords: Musculoskeletal and joint disorders, Therapeutic indications, Novel treatment (new drug/intervention; established drug/procedure in new situation), Drugs and medicines, Pharmacology and therapeutics, Rheumatology, Rheumatology, Connective tissue dis
      PubDate: 2019-08-12T22:43:47-07:00
      DOI: 10.1136/bcr-2018-228295
      Issue No: Vol. 12, No. 8 (2019)
       
  • Atypical cutaneous targetoid lesions after bone marrow transplant
    • Authors: Zhong, C. S; Richardson, E. T, Laga Canales, A. C, Nambudiri, V. E.
      Abstract: A 69-year-old man with esophageal EBV-positive diffuse large B cell lymphoma status post allogeneic bone marrow transplant (BMT) five months prior presented to his oncologist with three days of maculopapular rash that was initially diagnosed as grade 1 graft-versus-host disease and started on oral prednisone. However, due to worsening of the rash, the patient presented to dermatology clinic, where skin biopsy revealed a diagnosis of erythema multiforme (EM). The patient improved with the use of topical steroids. This case highlights the atypical morphology of post-BMT EM and the potential causes for this atypical appearance.
      Keywords: Oncology, Reminder of important clinical lesson, Dermatology
      PubDate: 2019-08-12T22:43:47-07:00
      DOI: 10.1136/bcr-2019-230142
      Issue No: Vol. 12, No. 8 (2019)
       
  • Leukemoid reaction: a rare paraneoplastic event in a case of advanced
           penile cancer and its management
    • Authors: Mishra, A. K; Mehra, K, Manikandan, R, Dorairajan, L. N.
      Abstract: Leukemoid reaction is a paraneoplastic phenomenon associated predominantly with solid tumours. Malignancies presenting with leukemoid reaction have a grave prognosis. It is defined as persistent neutrophil count greater than 50x103 cells/µL. We report a case of leukemoid reaction in a patient with metastatic penile cancer. A 60-year-old man with partial penectomy status for squamous cell carcinoma of penis on neoadjuvant chemotherapy, presented with left fungating inguinal lymphadenopathy and total leucocyte count 96x103 cells/µL and hypercalcaemia. Leucocytealkaline phosphatase (LAP) score was excessively elevated. The patient underwent left ilioinguinal block dissection along with vastus lateralis flap for defect reconstruction. Postoperatively, the neutrophil counts and serum calcium level normalised. The patient improved clinically and was discharged.
      Keywords: Oncology, Surgery, Rare disease, Urological cancer, Urological surgery
      PubDate: 2019-08-12T22:43:47-07:00
      DOI: 10.1136/bcr-2019-230826
      Issue No: Vol. 12, No. 8 (2019)
       
  • Fetus in fetu in an adult woman
    • Authors: Kumar, A; Paswan, S. S, Kumar, B, Kumar, P.
      Abstract: Fetus in fetu (FIF) is an extremely rare condition in which malformed fetus is found most commonly in the retroperitoneum of living twin. It occurs in about 1 in 500 000 live births and less than 200 cases have been reported in medical literature. We report FIF in a 17-year-old woman unlike other cases which were usually detected in early age and in male gender. This is the eighth case of adult FIF and the first case of FIF in adult woman worldwide. Preoperative diagnosis of FIF on CT was made and planned for exploratory laparotomy. The excised malformed fetus in a sac was proven as FIF on the basis of histopathological examination. In view to avoid such late presentation, early detection of FIF with radiological imaging in clinically suspected case is recommended. Surgical excision is the ideal treatment even teratoma is the differential diagnosis.
      Keywords: Paediatrics, Surgery, Open access, Rare disease, Congenital disorders, Pathology, Radiology, General surgery
      PubDate: 2019-08-12T22:43:47-07:00
      DOI: 10.1136/bcr-2019-230835
      Issue No: Vol. 12, No. 8 (2019)
       
  • Dentures discovered in larynx 8 days after general anaesthetic
    • Authors: Cunniffe; H. A.
      Abstract: An active 72-year-old man presented to the accident and emergency department (A&E) with odynophagia, dysphagia and haemoptysis 6 days after a minor operation and was discharged after treatment for an aspiration pneumonia. He presented to A&E 2 days later with worsening symptoms and was found to have dentures lodged in his larynx which were then removed in theatre. For 6 weeks after removal, he had periodic episodes of frank haemoptysis requiring multiple blood transfusions and, after extensive investigation, was found to have an erosion into an arterial vessel on his right parapharyngeal wall, just posterior to the glossopharyngeal sulcus. This case raises questions about perioperative care in patients with dentures, diagnostic decision-making in the emergency care setting and postoperative care after delayed removal of foreign bodies from the upper aerodigestive tract.
      Keywords: Learning from errors, Press releases
      PubDate: 2019-08-12T15:30:21-07:00
      DOI: 10.1136/bcr-2019-230055
      Issue No: Vol. 12, No. 8 (2019)
       
  • Appendicitis within the contents of an incarcerated paraumbilical hernia
    • Authors: Zormpa, A; Alfa-Wali, M, Chung, A.
      Abstract: A 30-year-old woman known to have a paraumbilical hernia presented with central abdominal pain and vomiting. On examination, she was tender around the umbilical area, and a lump was felt on the umbilicus with associated skin changes. A CT scan was performed which showed an inflamed appendix within an incarcerated paraumblical hernia.
      Keywords: Surgery, Unusual presentation of more common disease/injury, Gastrointestinal surgery, General surgery
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2018-228915
      Issue No: Vol. 12, No. 8 (2019)
       
  • Methodical history taking may help in timely diagnosis of spontaneous
           intracranial hypotension
    • Authors: Irie, J; Shiga, K.
      Abstract: Orthostatic headache (OH) is a key symptom of spontaneous intracranial hypotension (SIH). However, there is no optimal history taking for OH. A 35-year-old man complained of headache that prevented him from performing routine physical activities, which was relieved on lying down. We initially considered migraine as the most likely diagnosis. However, detailed history taking revealed that his headache worsened on standing, and he was finally diagnosed with SIH. Headache relief on lying down is not a specific indicator of OH associated with SIH. Thus, with regard to headache history taking, we suggest it important to confirm headache aggravation on standing.
      Keywords: Open access, Learning from errors, Neurology, Headache (including migraine), Neuroimaging
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2018-229103
      Issue No: Vol. 12, No. 8 (2019)
       
  • Resolution of necrolytic migratory erythema with somatostatin analogue in
           a patient diagnosed with pancreatic glucagonoma
    • Authors: Saavedra, C; Lamarca, A, Hubner, R. A.
      Abstract: A 70-year-old man reported progressive weight loss, fatigue and a generalised rash. The rash was consistent with necrolytic migratory erythema, further investigations were performed and the patient was diagnosed with a mass in the tail of the pancreas, in keeping with a localised glucagonoma. Somatostatin analogue therapy was started for symptom control, leading to complete resolution of the skin rash and an improvement in constitutional symptoms. Subsequently, the pancreatic lesion was excised, and pathology assessment confirmed the diagnosis of well-differentiated neuroendocrine tumour with high expression of glucagon compatible with glucagonoma.
      Keywords: Oncology, Reminder of important clinical lesson, Pancreatic cancer
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2018-229115
      Issue No: Vol. 12, No. 8 (2019)
       
  • Granulomatous interstitial nephritis: a rare diagnosis with an overlooked
           culprit
    • Authors: Figueiredo, A. C; Rodrigues, L, Sousa, V, Alves, R.
      Abstract: Granulomatous interstitial nephritis (GIN) is a rare entity identified in
      Keywords: Contraindications and precautions, Renal system, Rare disease, Drugs and medicines, Renal medicine, Chronic renal failure
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2018-229159
      Issue No: Vol. 12, No. 8 (2019)
       
  • Acrometastases to the hand in stomach carcinoma: a rare entity
    • Authors: Kumar; A.
      Abstract: Acrometastasis caused by malignancy is a very rare phenomenon, and gastric malignancy metastasising to the hands is an even rarer entity. It accounts for only 0.1% of all metastatic osseous involvement, and may be a late manifestation of malignancy or may even be a presenting symptom. It is generally seen with lung primary, followed by kidney and breast, and less frequently with colon, liver, prostate, rectum and stomach primaries. The terminal phalanges are the most common sites of metastases, followed by the metacarpals and the proximal phalanges. We present a case of stomach carcinoma with metastases to the liver and adrenals which was managed with three lines of chemotherapy. He was lost to follow-up and reported after 1 year with swelling over his left hand, which was managed with palliative radiation to the hand in view of severe pain, followed by chemotherapy.
      Keywords: Oncology, Unusual presentation of more common disease/injury, Gastric cancer, Radiotherapy
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-229390
      Issue No: Vol. 12, No. 8 (2019)
       
  • Expansion of pulmonary arteriovenous malformations after grand mal
           seizures and other circumstances of PAVM growth
    • Authors: Schattner, A; Dubin, I.
      Abstract: A woman with asymptomatic pulmonary arteriovenous malformation (PAVM) discovered incidentally on admission developed recurrent generalised seizures. Immediately after, the PAVM demonstrated marked expansion, and was safely resected. Congenital PAVMs (associated with hereditary haemorrhagic telangiectasia or sporadic) are considered stable lesions that exhibit very slow growth if at all. A review of the literature reveals all circumstances of accelerated growth of PAVM (puberty, pregnancy, postpartum, pulmonary hypertension) and suggests a novel mechanism of seizure-associated expansion. This is important because the size and rapid growth of PAVMs correlate with the potential for rupture and other ominous complications such as right to left shunt and paradoxical emboli. The new seizures–PAVM progression association mandates recognition since the risk of seizures in patients with PAVM is substantial. Our observations strongly suggest the need to monitor PAVM in patients with or without haemorrhagic telangiectasis by repeated imaging after generalised seizures to evaluate potential expansion and risk.
      Keywords: Respiratory system, Emergency medicine, Obstetrics and gynaecology, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Drugs and medicines, Neurology, Epilepsy and seizures, Pregnancy
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-229886
      Issue No: Vol. 12, No. 8 (2019)
       
  • Ankylosing spondylitis presenting with enthesitis at an uncommon site and
           fever of unknown origin
    • Authors: Kanda, N; Takeda, K, Hatakeyama, S, Matsumura, M.
      Abstract: A 58-year-old man presented with a 2-month history of arthralgia and bilateral temporal region pain, and a 1-month history of fever. He had had refractory neck pain since his 20s. Reduced cervical and lumbar mobility was observed. Radiographs of cervical and thoracic vertebrae disclosed syndesmophytes. Pelvic radiographs showed sclerosis in the right sacroiliac joint and ankylosis in the left sacroiliac joint. MRI with contrast enhancement showed enthesitis in the upper extremities and enhancement in the bilateral temporal muscle, which indicated enthesitis of temporal muscle. He was diagnosed with ankylosing spondylitis based on the limitation in mobility of the lumbar spine and radiographic findings. To the best of our knowledge, this is the first report describing enthesitis of the temporal muscle. This case highlights that ankylosing spondylitis can be accompanied with enthesitis at the temporal muscle and fever of unknown origin at the initial presentation.
      Keywords: Unusual presentation of more common disease/injury, Rheumatology, Ankylosing spondylitis, Musculoskeletal syndromes
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230113
      Issue No: Vol. 12, No. 8 (2019)
       
  • LeHeR, a simple novel approach for difficult airway in non-trauma patients
    • Authors: Yezid, N. H; Poh, K, Md Noor, J, Arshad, A.
      Abstract: Managing the difficult airway presents a great challenge to anaesthesiologists and emergency physicians. Although there are many methods and scoring systems available to predict and anticipate difficult airway, the dictum in emergency airway is to always expect the unexpected. We have encountered a novel simple method of improving laryngoscopic view in difficult airway. We report four cases of difficult airway encountered in our district hospital from November 2017 to December 2018, in which intubation was performed using a simple manoeuvre called supine left head rotation (LeHeR). In all these cases, LeHeR manoeuvre has proven to be successful after more than a single attempt at intubation using various methods. The manoeuvre improves drastically the laryngoscopic view of Cormack-Lehane from 3B and 4 to 1 and 2.
      Keywords: Anaesthesia, Emergency medicine, Paediatrics, Open access, Novel treatment (new drug/intervention; established drug/procedure in new situation), Prehospital, Resuscitation
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230201
      Issue No: Vol. 12, No. 8 (2019)
       
  • Hemophagocytic lymphohistiocytosis: a rare association with pulmonary
           cryptococcosis
    • Authors: Singh, P. K; Kodati, R, Rohilla, M, Sharma, P.
      Abstract: Hemophagocytic lymphohistiocytosis (HLH) is an inflammatory syndrome characterised by unregulated macrophage and T-lymphocyte activation, resulting in cytokine overproduction and subsequent histiocytic phagocytosis. Here we report a case of pulmonary cryptococcosis, in a 59-year-old diabetic patient, with no other risk factors whose clinical course was complicated by secondary hemophagocytosis. Even after addressing the primary underlying illness (pulmonary cryptococcosis), his clinical condition continued to worsen. After excluding the other causes of HLH and possible reasons of his clinical worsening, glucocorticoids were added following which the patient experienced a remarkable improvement in his clinical and laboratory parameters. To our knowledge, this is the first case report of HLH being caused by pulmonary cryptococcosis and only second case report of cryptococcosis being complicated with HLH (previous report being associated with meningoencephalitic cryptococcosis).
      Keywords: Haematology (drugs and medicines), Infectious diseases, Unusual association of diseases/symptoms, Drugs and medicines, Pneumonia (infectious disease)
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230255
      Issue No: Vol. 12, No. 8 (2019)
       
  • Granulomatosis with polyangiitis with intestinal involvement successfully
           treated with rituximab and surgery
    • Authors: Sato, H; Shima, K, Sakata, H, Ohtoh, T.
      Abstract: Intestinal perforation is a rare and life-threatening complication in granulomatosis with polyangiitis (GPA). A 55-year-old Japanese man who had been undergoing maintenance haemodialysis was diagnosed with GPA via a pathologically proven nasal granuloma and proteinase 3-antineutrophil cytoplasmic antibody-positive status. He was started on 60 mg prednisolone. Haematochezia was observed due to the colon ulcer after treatment initiation. Two doses of intravenous cyclophosphamide were administered every 2 weeks. Despite the treatment, there were two episodes of severe abdominal pain with peritonitis within a week. Perforation of descending colon and severe ischaemia of the ascending colon was observed during each emergency laparotomy, and ileostomy was performed. Vasculitis in the small vessels was confirmed. In conclusion, patient with severe intestinal involvement and who was unresponsive to conventional therapy was treated with surgery followed by rituximab administration, and remission was achieved.
      Keywords: Gastroenterology, Surgery, Rare disease, Rheumatology, Vascularitis, Gastrointestinal surgery
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230355
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rare association of juvenile retinoschisis with retinochoroidal coloboma
    • Authors: C Parameswarappa, D; Agarwal, K.
      Keywords: Macula, Retina, Images in..., Ophthalmology
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230364
      Issue No: Vol. 12, No. 8 (2019)
       
  • Cervical intraepithelial neoplasia grade 3 in a patient following Gardasil
           vaccination
    • Authors: McLucas, B; Vail, E, Chua, K. J, Walt, G.
      Abstract: Essentially all cervical dysplasia is caused by human papilloma virus (HPV). Three HPV vaccines have been available, with Gardasil-9 being the most recently approved in the USA. Gardasil-9 covers high-risk HPV strains 16, 18, 31, 33, 45, 52 and 58 as well as low-risk strains 6 and 11. A 33-year-old woman (Gravida 2, Para 2) received Gardasil in 2006. Subsequently, her pap smear revealed low grade squamous intraepithelial lesion. Cervical biopsies performed in 2015 and 2016 revealed cervical intraepithelial neoplasia grade 1 (CIN 1). She underwent loop electrosurgical excision procedure for persistent CIN 1, which demonstrated CIN 3. Genotyping revealed HPV type 56 infection. The advancement of Gardasil-9 vaccine only offers 90% protection to patients against HPV-related disease. Lay literature may mislead patients to think they have no risk of HPV infection.
      Keywords: Infectious diseases, Obstetrics and gynaecology, Oncology, Open access, Reminder of important clinical lesson, Vaccination / immunisation, Cancer -see Oncology, Cervical cancer, Cervical screening, Gynecological cancer
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230366
      Issue No: Vol. 12, No. 8 (2019)
       
  • Worsening of movement disorder following treatment with electroconvulsive
           therapy in a patient with Huntingtons disease
    • Authors: Abeysundera, H; Campbell, A, Sarma, S.
      Abstract: This paper describes a patient who presented with treatment-resistant depression with comorbid anxiety symptoms in the context of Huntington’s disease (HD) and developed worsening movement disorder symptoms after commencing electroconvulsive therapy (ECT) for depression. The aim of this case report is to provide medical practitioners with a greater awareness of the possibility of worsening movement disorders when using ECT for depression in a patient with HD.
      Keywords: Neurology (drugs and medicines), Psychiatry (drugs and medicines), Unexpected outcome (positive or negative) including adverse drug reactions, Drugs and medicines, Genetics, Genetic screening / counselling, Neurology, Movement disorders (other than
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230389
      Issue No: Vol. 12, No. 8 (2019)
       
  • Removal of an inhaled stoma button distal to a reactionary tracheal
           stenosis: a difficult airway case
    • Authors: Gray, G; Adams, M, Black, M, Sidhu, P.
      Abstract: We present the complex and rare case of an inhaled stoma button causing proximal tracheal stenosis in a laryngectomy patient. The patient was unaware he had inhaled his button and presented with increasing shortness of breath and noisy breathing. In this case we discuss the challenging management of the stenotic tracheal segment above the impacted stoma button and the surgical approach to this difficult airway. The distal foreign body was safely removed using rigid bronchoscopy and balloon dilatation. This difficult airway required multidisciplinary input from the ENT, cardiothoracic and anaesthetic teams.
      Keywords: Surgery, Novel treatment (new drug/intervention; established drug/procedure in new situation), Cardiothoracic surgery, Head and neck surgery, Otolaryngology / ENT, Ear, nose and throat/otolaryngology
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230392
      Issue No: Vol. 12, No. 8 (2019)
       
  • Secondary pneumatic retinopexy for failed scleral buckle
    • Authors: Balakrishnan, D; Oli, A.
      Abstract: Scleral buckle (SB) is a well-established modality to treat retinal detachment (RD). The surgery can fail because of various reasons. This case highlights the role of secondary pneumatic retinopexy (PR) for dealing with recurrent RD after SB surgery. This modality of treatment could be explored before taking up patients for vitrectomy, especially in cases of retinal break without proliferative vitreoretinopathy. In the case presented, secondary PR could save another major surgery and good outcome was achieved with less invasive option.
      Keywords: Macula, Retina, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Ophthalmology
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230400
      Issue No: Vol. 12, No. 8 (2019)
       
  • Major imbalance of thyroid function after laparoscopic sleeve gastrectomy
    • Authors: Brutus, L; Poupard, A, Le Glatin, C.
      Abstract: In patients with substituted hypothyroidism, laparoscopic sleeve gastrectomy may interfere with thyroid balance by varying body weight or by altering the absorption of hormone therapy. A 58-year-old female patient presented with a major thyroid imbalance after sleeve gastrectomy, manifesting itself in large-scale changes in thyroid stimulating hormone (TSH) levels. The transition from a tablet treatment to a liquid form alleviated burden of treatment, unfortunately without normalising TSH. Our case emphasises the importance of the understanding of hypothalamic–pituitary–thyroid feedback control mechanisms together with good galenic choice, management of associated conditions and the elimination of other causes of variations of TSH levels during the management of hypothyroid patients after sleeve gastrectomy.
      Keywords: Endocrine system, Drug therapy related to surgery, Endocrinology, Surgery, Unusual association of diseases/symptoms, Drugs and medicines, General practice / family medicine, Gastrointestinal surgery, Thyroid disease
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230515
      Issue No: Vol. 12, No. 8 (2019)
       
  • Pigmented paravenous retinochoroidal atrophy associated with unilateral
           cystoid macular oedema
    • Authors: Figueiredo, R; Morais Sarmento, T, Garrido, J, Ramalho, A.
      Abstract: A 65-year-old man was referred to our department with complaints of blurred vision in the left eye. Funduscopic examination revealed areas of retinochoroidal atrophy along the retinal veins bilaterally and bone spicule pigmentation along the nasal and superior temporal venous branches, as well as macular oedema in the left eye. Fluorescein angiography, visual field test, optical coherence tomography and electrophysiological examination were performed, and results were compatible with the diagnosis of pigmented paravenous retinochoroidal atrophy (PPRCA). Treatment with topical dorzolamide and intravitreal bevacizumab in the left eye resulted in poor anatomical and visual response. There is scarce documentation of macular involvement with non-inflammatory unilateral cystoid macular oedema in PPRCA in the literature. Further investigation is required to elucidate the pathogenesis of PPRCA and to properly manage these patients.
      Keywords: Macula, Retina, Rare disease, Ophthalmology
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230633
      Issue No: Vol. 12, No. 8 (2019)
       
  • Using an Impella device to reverse refractory cardiac arrest and enable
           efficient coronary revascularisation
    • Authors: Persico, N; Guervilly, C, Verhamme, B, Bonello, L.
      Abstract: We report the case of a 54-year-old man who suffered from refractory cardiac arrest secondary to acute myocardial infarction. As veno-arterial extracorporeal membrane oxygenation was unavailable, mechanical chest compression was performed and an Impella device was used that immediately delivered at 3.2 l/min flow to reach the optimal mean arterial pressure. Within 1 min, return of spontaneous circulation was achieved and a 40% left ventricular ejection fraction was measured on echography. Then, the right coronary artery could be revascularised. Despite 62 min low flow, the patient was discharged home on day 19 without neurological sequelae. During refractory cardiac arrest, the European Resuscitation Guidelines indicate that veno-arterial extracorporeal membrane oxygenation should be considered as rescue therapy. Other mechanical circulatory supports such as an Impella device (left ventricular assist device propelling blood in the ascending aorta) can be a promising treatment in select patients; however, insufficient data in humans are available.
      Keywords: Cardiovascular medicine, Intensive care, Emergency medicine, Novel treatment (new drug/intervention; established drug/procedure in new situation), Interventional cardiology, Adult intensive care, Resuscitation
      PubDate: 2019-08-10T04:45:37-07:00
      DOI: 10.1136/bcr-2019-230654
      Issue No: Vol. 12, No. 8 (2019)
       
  • Rare cause of pulmonary hypertension - pulmonary tumour thrombotic
           microangiopathy
    • Authors: OBrien, J; Jones, N, Horrigan, M, Al-Kaisey, A. M.
      Abstract: Pulmonary tumour thrombotic microangiopathy (PTTA) is a rare but lethal cause of pulmonary hypertension (PHT). Its underlying mechanism is believed to be fibrocellular intimal proliferation and microthrombosis. It has been reported in association with gastric adenocarcinoma and breast, pancreatic and lung cancers. The diagnosis is often made on postmortem examination due to the absence of diagnostic criteria and its rare occurrence. We describe the case of a middle-aged man who presented with rapidly progressive PHT. He deteriorated into multiorgan failure despite aggressive medical therapy and died 4 weeks after his initial presentation. A postmortem examination confirmed the diagnosis of PTTA in addition to the finding of signet cell gastric adenocarcinoma. This case highlights the lethal nature of this rare condition, the ongoing challenges in making an antemortem diagnosis, and the importance of postmortem examination in determining the cause of death to provide closure for both, the treating physician and the family.
      Keywords: Cancer - see Oncology, Cardiovascular medicine, Oncology, Reminder of important clinical lesson, Heart failure, Gastric cancer
      PubDate: 2019-08-09T22:12:17-07:00
      DOI: 10.1136/bcr-2018-225756
      Issue No: Vol. 12, No. 8 (2019)
       
  • Brown recluse (L. rufescens) can bite in Northern Italy, too: first case
           report and review of the literature
    • Authors: Abbott, D. M; Brunetti, E, Barruscotti, S, Brazzelli, V.
      Abstract: The brown recluse, or fiddleback (violin) spider, is a poisonous spider of the Loxosceles genus that resides in warmer regions and old structures making the warm Mediterranean climate a natural habitat for the European species, L. rufescens. Even in infested households, however, bites are rare, as they are nocturnal and unaggressive. In 2015, the first supposed death by L. rufescens occurred in Italy, but before and even after such bite, the literature on these spiders has been under-represented. This case report documents a confirmed bite by a violin spider on a medical student in Pavia, Italy. The presentation in this case was initially with general systemic, flu-like symptoms, then as cellulitis with lymphangitis that persisted for nearly 2 weeks until resolving without prolonged or complicated pathology. We present the first documented case of a L. rufescens bite in Northern Italy, to the best of our knowledge.
      Keywords: Emergency medicine, Infectious diseases, Rare disease, Travel medicine, Dermatology, Prehospital
      PubDate: 2019-08-09T22:12:17-07:00
      DOI: 10.1136/bcr-2019-230000
      Issue No: Vol. 12, No. 8 (2019)
       
  • Relapsing piriformis syndrome treated with botulinum toxin injections
    • Authors: Ripellino, P; Cianfoni, A, Izzo, M. G. A, Gobbi, C.
      Keywords: Images in..., Neurology, Neuroimaging, Pain (neurology), Peripheral nerve disease
      PubDate: 2019-08-09T22:12:17-07:00
      DOI: 10.1136/bcr-2019-230981
      Issue No: Vol. 12, No. 8 (2019)
       
  • Sclerosing mucoepidermoid carcinoma with eosinophilia of thyroid
    • Authors: Iftikhar, H; Awan, M. S, Ghaloo, S. K, Fatima, S.
      Abstract: Sclerosing mucoepidermoid carcinoma of the thyroid was first reported in 1991. This tumour type may develop as associated to Hashimoto thyroiditis. There are two variants of mucoepidermoid carcinoma of thyroid. The conventional and the sclerosing variants. Sclerosing mucoepidermoid carcinoma with eosinophilia of thyroid (SCME) has recently been recognised as a separate disease entity by the WHO. We report a case of SCME in a 62-year-old male patient who presented with a painless anterior neck swelling. Total thyroidectomy was performed, and no adjuvant treatment administered. The patient remained disease free up until 10 months of follow-up. Approximately 40 cases are reported in literature. We report the second case of SCME in Asian men. Sclerosing mucoepidermoid carcinoma with eosinophilia of thyroid should be differentiated from the conventional mucoepidermoid carcinoma. Patients should also be advised of long-term follow-up for surveillance.
      Keywords: Endocrinology, Rare disease, Ear, nose and throat/otolaryngology, Thyroid disease
      PubDate: 2019-08-08T21:07:47-07:00
      DOI: 10.1136/bcr-2018-225685
      Issue No: Vol. 12, No. 8 (2019)
       
  • Group B streptococcus meningitis complicated by periodic lateralising
           epileptiform discharges in an elderly patient with type 2 diabetes
           mellitus
    • Authors: Germano, N; Sibbel, M. G, Summerfield, D, Pitzenberger, A.
      Abstract: Streptococcus agalactiae (group B streptococcus or GBS) is the most common cause of bacterial meningitis in infants, but is rarely the cause in adults. Across all non-pregnant adults it comprises 7% of bacterial meningitis cases, with a mortality rate of 56% in the elderly. Therefore, while rare, GBS should be a part of a patient’s differential when initiating antibiotics in adults with chronic illnesses. We report a 78-year-old diabetic female admitted to the hospital with suspected meningitis. Lumbar puncture revealed grossly purulent cerebrospinal fluid (CSF) and she was started on antibiotics for empiric treatment of expected Streptococcus pneumoniae. Thirty-one hours post-sampling, the CSF culture results returned positive for beta haemolytic GBS and treatment was altered accordingly. The case was complicated by concomitant periodic lateralising epileptiform discharges which were treated simultaneously. After 14 days of hospitalisation, the patient was discharged to a skilled nursing facility for further recovery.
      Keywords: Intensive care, Infectious diseases, Open access, Reminder of important clinical lesson, Meningitis, Neuroendocrinology, Adult intensive care, Diabetes
      PubDate: 2019-08-08T21:07:47-07:00
      DOI: 10.1136/bcr-2018-228040
      Issue No: Vol. 12, No. 8 (2019)
       
  • Boerhaaves syndrome in an ultra-distance runner
    • Authors: Pasternak, A; Ellero, J, Maxwell, S, Cheung, V.
      Abstract: A runner competing in a 100 mile trail race presented with severe lower chest pain and right upper abdominal pain. His pain started immediately after he took an over the counter non steroidal anti-inflammatory pill a few hundred metres after leaving the aid station. When he took the pill, he immediately had to vomit and spit out the pill. On arriving back at the aid station, he was noted to have severe left-sided chest pain that worsened with reclining. He also had profound dyspnoea. Initial vital signs were unremarkable. The runner was immediately transported to an emergency room and eventually found to have an oesophageal rupture. After surgical intervention and a lengthy recovery, the runner is back to participating in sport.
      Keywords: Gastroenterology, Surgery, Oesophagus, Open access, Editor's choice, Unusual presentation of more common disease/injury, Sports and exercise medicine, Gastrointestinal surgery
      PubDate: 2019-08-08T21:07:47-07:00
      DOI: 10.1136/bcr-2019-230343
      Issue No: Vol. 12, No. 8 (2019)
       
  • Lymphangiofibrolipomatous hamartomaous polyp of tonsil
    • Authors: Mehta, S; Jha, S, Adhya, A. K, Mitra, S.
      Abstract: Benign tumours of the tonsils are rare. Majority of these lesions are diagnosed as squamous papilloma. Hamartoma is a benign tumor-like malformation. Hamartoma in tonsils is unique and only a few anecdotal cases are reported until now. Tonsillar hamartoma usually presents as unilateral or bilateral polyp with clinical features of dysphagia or foreign body sensation. Histopathologically, normal tissues are noted in a haphazard or disorganised way. We hereby present a case of 31-year-old male patient with tonsillar hamartomatous polyp presenting with the symptom of a foreign body sensation in the throat. The diagnosis of this entity and its distinction from other clinico-pathological mimickers require histopathological examination and awareness. A complete surgical excision is curative without any evidence of disease recurrence.
      Keywords: Rare disease, Ear, nose and throat/otolaryngology, Surgery, Otolaryngology / ENT
      PubDate: 2019-08-06T22:52:14-07:00
      DOI: 10.1136/bcr-2019-230030
      Issue No: Vol. 12, No. 8 (2019)
       
  • Late postcholecystectomy Mirizzi syndrome due to a sessile gall bladder
           remnant calculus managed by laparoscopic completion cholecystectomy: a
           feasible surgical option
    • Authors: Desai, G. S; Pande, P, Narkhede, R, Wagle, P.
      Abstract: Postcholecystectomy Mirizzi syndrome (PCMS) is an uncommon entity that can occur due to cystic duct stump calculus, gall bladder remnant calculus or migrated surgical clip. It can be classified into early PCMS or late PCMS. It is often misdiagnosed and the management depends on the site of impaction of stone or clip. Endoscopy can be performed for cystic duct stump calculus. However, surgery is the treatment for remnant gall bladder calculus. Role of laparoscopic management is controversial. We present here a case of a 48-year-old woman with late PCMS due to an impacted calculus in a sessile gall bladder remnant following a subtotal cholecystectomy, managed with laparoscopic completion cholecystectomy, review the literature, provide tips for safe laparoscopy for PCMS and summarise our algorithmic approach to the management of the postcholecystectomy syndrome.
      Keywords: Endoscopy, Gastroenterology, Surgery, Unusual presentation of more common disease/injury, Gastrointestinal surgery, General surgery
      PubDate: 2019-08-05T22:13:42-07:00
      DOI: 10.1136/bcr-2018-228156
      Issue No: Vol. 12, No. 8 (2019)
       
  • Radial artery pseudoaneurysm following coronary angiogram
    • Authors: Swanton, A; Coughlan, F, Hasan, H.
      Keywords: Cardiovascular medicine, Images in..., Interventional cardiology, Clinical diagnostic tests, Radiology (diagnostics)
      PubDate: 2019-08-05T22:13:42-07:00
      DOI: 10.1136/bcr-2018-228723
      Issue No: Vol. 12, No. 8 (2019)
       
  • Pathophysiology of narrow complex dilated cardiomyopathy insight derived
           from the velocity equation: velocity = distance/time
    • Authors: Houck, P. D; Jones, B, Patel, R, Olsovsky, G.
      Abstract: The pathophysiology of narrow complex dilated cardiomyopathy is not defined, so therapeutic options are limited. By utilising the velocity equation, the pathophysiology of narrow complex cardiomyopathy allows above normal conduction propagation velocities. There are two pathophysiological theories that allow above normal conduction velocities and failure to capture the myocardium: (1)insulating fibres of the conduction system extending beyond the apex and (2) reduction of axon branching. A patient with narrow complex cardiomyopathy was subjected to graded increase in amplitude and pulse width pacing to overcome the failure of native conduction to capture the myocardium. Peak systolic strain maps demonstrated a progressive increase in apical contractility with increasing pulse width and amplitude. Ejection fraction improved from 17% to 31%. Understanding the pathophysiology of narrow complex cardiomyopathy leads to proposed therapies. One potential pacing therapy is multi-lead pacing at high amplitude and pulse width to capture myocardial cells not captured by native conduction.
      Keywords: Cardiovascular medicine, Open access, Findings that shed new light on the possible pathogenesis of a disease or an adverse effect, Heart failure, Pacing and electrophysiology
      PubDate: 2019-08-05T22:13:42-07:00
      DOI: 10.1136/bcr-2019-229339
      Issue No: Vol. 12, No. 8 (2019)
       
  • Interesting pancreatic tumour in the background of Tuberous Sclerosis
    • Authors: Amarjothi, J; Jesudason, J, Ramasamy, V, Babu, O. N.
      Abstract: Tuberous Sclerosis Complex (TSC) is easily discernible by a myriad of manifestations, most notably dermatological. It is associated with well known and recognised intra-abdominal tumours like angiomyolipoma of the kidney. However, rarer tumours like pancreatic neuroendocrine tumours can occur in the setting of TSC. A high index of suspicion is necessary to identify and treat these lesions early in their natural course. Early identification augurs well with complete surgical excision and excellent survival.
      Keywords: Oncology, Rare disease, Pancreatic cancer, Prevention
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2018-227292
      Issue No: Vol. 12, No. 8 (2019)
       
  • Retrograde ejaculation associated with quetiapine and treatment with
           low-dose imipramine
    • Authors: Roughley, M; Lyall, M.
      Abstract: Sexual side-effects are common among those using antipsychotic medication and may result in poor compliance and reduced quality of life. Retrograde ejaculation (RE) has been described occurring with a number of antipsychotic medications (thioridazine, risperidone, iloperidone and clozapine) but there are no guidelines regarding management of antipsychotic-associated RE. Imipramine has been suggested as a treatment for antipsychotic-associated RE in one small study of patients prescribed thioridazine and a case series of patients prescribed iloperidone. Quetiapine is a commonly used antipsychotic and is thought to be associated with less sexual side-effects relative to other antipsychotic medications. This case report describes a 25-year-old man with first episode psychosis who developed RE during treatment with quetiapine which improved with low-dose imipramine. This is the first description of RE occurring with quetiapine and successful treatment of quetiapine-associated RE with imipramine.
      Keywords: Psychiatry, Novel treatment (new drug/intervention; established drug/procedure in new situation), Pharmacology and therapeutics, Unwanted effects / adverse reactions, Psychotic disorders (incl schizophrenia)
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2018-228539
      Issue No: Vol. 12, No. 8 (2019)
       
  • Lipoleiomyosarcoma of spermatic cord: an unusual presentation
    • Authors: Khan, W. F; Rathore, Y. S, Aduri, R. S, Mridha, A. R.
      Abstract: Spermatic cord malignancies are very rare tumours. Less than 100 cases of cord liposarcoma have been reported in the literature. Divergent differentiation into leiomyosarcoma and liposarcoma is a rare phenomenon but can occur. Lipoleiomyosarcoma usually represents the well-differentiated subtype of this entity. We report such a rare case in spermatic cord with an unusual presentation as a recurrent inguinal hernia in a 62-year-old man.
      Keywords: Surgery, Unusual presentation of more common disease/injury, Surgical oncology
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2018-228952
      Issue No: Vol. 12, No. 8 (2019)
       
  • Tuberculosis, onychomycosis and immune deficiency in complicated Crohns
           disease
    • Authors: Hejazi, R; Hasosah, M.
      Abstract: The immune system is composed of innate humoral defence and adaptive immunity. One of the key mechanisms of the innate humoral defence is through complement activation. Mutations of certain enzyme may affect the complement activation and result in decreased defence against microorganisms. Mannan-binding lectin serine protease 2 (MASP-2) mutation was associated with recurrent infections and autoimmune diseases. Tuberculosis (TB) has been linked with mannose-binding lectin and MASP-2 gene polymorphism. We report a case of a paediatric patient with MASP-2 deficiency with classical and atypical features associated with Crohn’s, onychomycosis and severe cutaneous infections including TB. We also report the presence of a new mutation variant in MASP-2 reported in whole exome sequencing of our patient.
      Keywords: Inflammatory bowel disease, Crohn's disease, Gastrointestinal system, Infections, Malignant disease and immunosuppression, Gastroenterology, Unusual association of diseases/symptoms, Drugs and medicines
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2018-228986
      Issue No: Vol. 12, No. 8 (2019)
       
  • Hypercalcaemia, renal dysfunction, anaemia and bone lesions (CRAB) do not
           always represent multiple myeloma: diffuse large B cell lymphoma
           presenting with CRAB symptoms in a 69-year-old man
    • Authors: Abdullah, H. M. A; Ellithi, M, Waqas, Q, Cunningham, A, Oliver, T.
      Abstract: Hypercalcaemia, renal dysfunction, anaemia and bone lesions (CRAB) are a constellation of signs and symptoms that are collectively referred to as the CRAB features. When present together, multiple myeloma (MM) should be at the top of the differential diagnosis. We present a 69-year-old man who presented with severe body aches and bone pain in his ribs and pelvis, associated with fatigue and constipation. He was found to have hypercalcaemia, acute kidney injury, anaemia and numerous lytic lesion on chest imaging. Physical examination and imaging were unremarkable for any enlarged lymph nodes. The patient was initially suspected to have multiple myeloma, however, serum and urine protein electrophoresis, and serum free light chain assays were negative. The patient was ultimately diagnosed with diffuse large B cell lymphoma based on a bone marrow biopsy. This case highlights the fact that presence of hypercalcaemia, renal dysfunction, anaemia and bone lesions are not usually specific for MM.
      Keywords: Oncology, Unusual presentation of more common disease/injury
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2018-229070
      Issue No: Vol. 12, No. 8 (2019)
       
  • Retroperitoneal schwannoma mimicking an adnexal mass in pregnancy
    • Authors: Allen, R; Lakasing, L.
      Abstract: A 36-year-old pregnant woman attended her first trimester scan and there was an incidental finding of a right-sided complex cystic adenexal mass. Further investigations including repeat pelvic ultrasound scans and MRI were performed due to its complex nature but were inconclusive. Multidisciplinary team review of images found the mass to be retroperitioneal, neurogenic in origin and involving the L5 vertebrae. The pregnancy continued to term and the baby was delivered at 39 weeks gestation by elective caesarean section due to the mass being likely to obstruct progress in labour. Postnatal biopsy confirmed a schwannoma. Plans were made for resection however as the woman was asymptomatic she declined surgery in favour of completing her family. She conceived again 2 years later and a second pregnancy was managed in the same way. The size of the schwannoma remained stable throughout this period.
      Keywords: Obstetrics and gynaecology, Surgery, Rare disease, Neurology, Spinal cord, Pregnancy, Radiology, Neurosurgery
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2019-229438
      Issue No: Vol. 12, No. 8 (2019)
       
  • Neurogenic bladder in an adolescent woman with an ovarian tumour: an
           unusual presentation of anti-NMDA-receptor encephalitis
    • Authors: Liou, N. S.-Y; Willmott, F.
      Abstract: Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is rarely seen in women with ovarian teratoma. It is characterised by neuropsychiatric symptoms and may also cause autonomic imbalance. We present the case of a 16-year-old nulliparous woman who presented with an acute history of seizures and neurogenic bladder. Antiviral and antiepileptic therapy conferred no therapeutic benefit. A cystic pelvic mass measuring 185x140x92 mm was identified separate from the bladder. Serum titres of NMDA receptor antibodies were significantly elevated. The mass was surgically removed and histology revealed benign ovarian teratoma with NMDA receptors. The patient made a rapid improvement and had full resolution of urinary and neuropsychiatric symptoms within 1 year. This case demonstrates that increased awareness in adolescents is crucial for avoiding symptom dismissal, misdiagnosis and inappropriate treatment of this condition. Surgical removal of the teratoma should be the first line therapy of anti-NMDA-receptor encephalitis as this often leads to symptom resolution soon after.
      Keywords: Cancer - see Oncology, Obstetrics and gynaecology, Oncology, Paediatrics, Unusual association of diseases/symptoms, Neurology, Epilepsy and seizures, Paediatric oncology, Child and adolescent psychiatry (paedatrics)
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2019-229626
      Issue No: Vol. 12, No. 8 (2019)
       
  • High-dose anakinra as treatment for macrophage activation syndrome caused
           by refractory Kawasaki disease in an infant
    • Authors: Lind-Holst, M; Hartling, U. B, Christensen, A. E.
      Abstract: We report a 12-week-old boy presenting with incomplete refractory Kawasaki disease (KD) complicated with macrophage activation syndrome (MAS). The infant presented with cerebral irritability, pain, tachypnoea and vomiting for 10 days. He did not fulfil any of the classic diagnostic criteria for KD. Pericardial effusion on echocardiography in addition to severe dilatation of the coronary arteries in combination with leucocytosis and raised acute phase reactants led to the diagnosis of incomplete KD. Treatment with intravenous immunoglobulin and aspirin was initiated but without any response. The condition was subsequently refractory to additional treatment with infliximab and high-dose methylprednisolone. His condition worsened, fulfilling the criteria for MAS. High-dose anakinra was initiated, and remission of the inflammation was achieved.
      Keywords: Paediatrics (drugs and medicines), Rare disease, Drugs and medicines, Rheumatology, Vascularitis
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2019-229708
      Issue No: Vol. 12, No. 8 (2019)
       
  • Obstructive retrosternal goitre mimicking severe bronchial asthma in
           pregnancy
    • Authors: Loo, G. H; Wan Mat, W. R, Muhammad, R, Azman, M.
      Abstract: Acute airway obstruction in pregnancy remains a challenge to manage. Failure of appropriate and timely airway management may lead to maternal morbidity and mortality such as aspiration pneumonitis or worst hypoxaemic cardiopulmonary arrest. 1 As pregnancy may exacerbate asthma attacks, parturient presenting with wheezing or shortness of breath will commonly be treated as suffering from an asthmatic attack. 2 However, it is important to note other possible differential diagnoses. Thyroid disease is relatively common in women of childbearing age. The thyroid gland undergoes several changes during pregnancy, which may lead to altered function as well as gland enlargement and cause upper airway obstruction and symptoms similar to a bronchial asthma attack. 3 4 With that in mind, we report a case of a parturient with long-standing goitre in her second trimester who presented to our institution with acute respiratory symptoms and cardiopulmonary arrest.
      Keywords: Ear, nose and throat, Endocrinology, Obstetrics and gynaecology, Rare disease, Drugs and medicines, Pregnancy, Respiratory medicine, Asthma, Thyroid disease
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2019-229763
      Issue No: Vol. 12, No. 8 (2019)
       
  • Hydrocephalus as the first presenting symptom of neurosarcoidosis in two
           
    • Authors: McKeever, A; Cox, A, Garnett, M, Cunniffe, N. G.
      Abstract: Sarcoidosis is a multisystem disorder, characterised histologically by the presence of non-caseating epithelioid granulomas with exclusion of other granulomatous diseases. While the lungs and lymph nodes are affected in 90%, approximately 5% of patients have neurological involvement. The clinical manifestations of neurosarcoidosis (NS) are diverse, making diagnosis especially difficult in patients without known systemic disease. Hydrocephalus occurs in only 9% of patients with NS and although uncommon, is an important manifestation because it is associated with high morbidity and mortality. We report two cases of NS presenting with hydrocephalus, one as the first presentation of sarcoidosis and one in a patient with known multisystem sarcoidosis. The patient without systemic sarcoidosis posed the greater diagnostic challenge and followed a protracted course with multiple surgical interventions, progression of central nervous system inflammation and significant physical disability.
      Keywords: Unusual presentation of more common disease/injury, Neurology, Hydrocephalus
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2019-229903
      Issue No: Vol. 12, No. 8 (2019)
       
  • Type IV capitellum fractures in children
    • Authors: Papamerkouriou, Y.-M; Tsoumpos, P, Tagaris, G, Christodoulou, G.
      Abstract: Capitellum fractures represent 1% of elbow fractures. A coronal shear fracture which involves the trochlea is classified as a type IV McKee fracture. The combination of its rarity in the paediatric population as well as its unique appearance on X-ray make diagnosis of this fracture a challenge. We present the case of a 14-year-old boy who sustained this fracture falling from his bike. It was diagnosed from the double arc sign on X-ray. In addition, a CT scan was obtained to aid preoperative planning. It was treated by open reduction and fixation with two headless compression screws. Follow-up at 6 months showed no avascular necrosis. The patient could achieve full extension, while flexion was reduced only by 5°. Final follow-up was conducted at 15 months. Anatomic reduction and stable internal fixation are essential for a good outcome in these uncommon paediatric fractures.
      Keywords: Emergency medicine, Surgery, Unusual association of diseases/symptoms, Orthopaedic and trauma surgery, Trauma
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2019-229957
      Issue No: Vol. 12, No. 8 (2019)
       
  • Usefulness of multimodality cardiac imaging in a patient with ST elevation
           myocardial infarction caused by two giant coronary artery aneurysms
    • Authors: Hayashida, S; Yagi, T, Suzuki, Y, Tachibana, E.
      Abstract: Coronary artery aneurysm (CAA) is a rare cause of myocardial infarction. However, only a few studies have investigated this aspect. An 84-year-old woman with a history of hypertension presented with nausea. showed ST elevation in the inferior leads, and coronary angiography revealed two giant CAAs in the right coronary artery. Percutaneous coronary intervention was difficult because of risk of CAA rupture. Thus, these aneurysms were further evaluated using multimodality cardiac imaging to determine the treatment. MRI using late gadolinium enhancement revealed structural features of the aneurysms and the viability of the myocardium. Only antithrombotic medication was administered on the basis of the results of the multimodality cardiac imaging. Here, we report a rare case of a patient diagnosed with ST elevation myocardial infarction caused by thrombosis in giant CAAs using multimodality cardiac imaging, particularly MRI.
      Keywords: Cardiovascular medicine, Open access, Rare disease, Interventional cardiology, Ischaemic heart disease, Radiology (diagnostics)
      PubDate: 2019-08-04T21:49:40-07:00
      DOI: 10.1136/bcr-2019-229995
      Issue No: Vol. 12, No. 8 (2019)