Case Reports in Medicine
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Open Access journal
ISSN (Print) 1687-9627 - ISSN (Online) 1687-9635
Published by Hindawi [333 journals]
- Drug Induced Pneumonitis Secondary to Treatment with
Paritaprevir/Ritonavir/Ombitasvir and Dasabuvir (VIEKIRA PAK®) for
Chronic Hepatitis C: Case Report of an Unexpected Life-Threatening Adverse
Abstract: VIEKIRA PAK (ritonavir-boosted paritaprevir/ombitasvir and dasabuvir) is an approved treatment for compensated patients with genotype 1 (GT1) chronic hepatitis C virus (HCV) infection. This oral regimen has minimal adverse effects and is well tolerated. Cure rates are 97% in patients infected with HCV GT 1a and 99% in those with HCV GT 1b. We report the first case of life-threatening allergic pneumonitis associated with VIEKIRA PAK. This unexpected serious adverse event occurred in a 68-year-old Chinese female with genotype 1b chronic hepatitis C and Child-Pugh A cirrhosis. One week into treatment with VIEKIRA PAK without ribavirin, she was admitted to hospital with respiratory distress and acute kidney injury requiring intensive care input. She was initially diagnosed with community acquired pneumonia and improved promptly with intravenous antibiotics and supported care. No bacterial or viral pathogens were cultured. Following complete recovery, she recommenced VIEKIRA PAK but represented 5 days later with more rapidly progressive respiratory failure, requiring intubation and ventilation, inotropic support, and haemodialysis. The final diagnosis was drug induced pneumonitis.
PubDate: Mon, 20 Mar 2017 09:21:02 +000
- Huge Lymphangioma of the Esophagus Resected by Endoscopic Piecemeal
Abstract: We present an unusual case of a 41-year-old male patient with a large lymphangioma of the esophagus. Endoscopy revealed that the structure measured 60 × 10 mm in the mucosa and the submucosa and had a heterogenous echo pattern. The esophageal mass was successfully resected by endoscopic piecemeal mucosal resection. However, most esophageal lymphangiomas that are larger than 2 cm in diameter reported in the literature can be removed only through open surgery. Thus far, we know of no reported cases of endoscopic resection as a treatment for this case.
PubDate: Mon, 20 Mar 2017 08:26:02 +000
- A Case of Initially Undiagnosed Chikungunya Arthritis Developing into
Chronic Phase in a Nonendemic Area
Abstract: This case report described a 40-year-old lady presented with fever, headache, arthralgia, myalgia, and impaired liver function after returning from the Philippines. Chikungunya virus (CHIKV) and dengue serology were negative. Eight weeks after initial presentation, she experienced inflammatory polyarthritis mimic rheumatoid arthritis. This time CHIKV-IgM was detected, together with a >4-fold rise of CHIKV-polyvalent-antibody titre. The first CHIKV-IgM negative sample was reexamined and was CHIKV-PCR positive. CHIKV infection was confirmed and diagnosis of CHIKV-related arthritis was made. A quarter of CHIKV infected individuals develop post-CHIKV rheumatisms that affect quality of life and may need treatment with Disease Modifying Antirheumatic Drugs. This case highlights the importance of considering CHIKV infection in patients present with symmetrical polyarthritis particularly after travel to endemic regions. Testing of both CHIKV acute and convalescent-phase serum for CHIKV antibodies and PCR is recommended in suspicious case.
PubDate: Mon, 20 Mar 2017 06:43:45 +000
- The Great Impostor: Transaminitis Masking the Coinfection of Syphilis and
Human Immunodeficiency Virus
Abstract: Introduction. The incidence of syphilis continues to rise in the United States over the past 15 years. This disease process is classified into stages and may present with a coinfection of Human Immunodeficiency Virus (HIV). Case Report. We present a case of a 32-year-old African American male who presented with cutaneous manifestations of secondary syphilis and transaminitis. A workup revealed that the transaminitis was secondary to underlying syphilitic hepatitis in the presence of HIV coinfection. The patient had a reactive rapid plasma reagin (RPR) of 1 : 64 TU and reactive Treponema pallidum particle agglutination assay (TPPA). Lab findings showed alkaline phosphate (ALP) of 648 unit/L, aspartate aminotransferase (AST) of 251 unit/L, and alanine aminotransferase (ALT) of 409 unit/L. Conclusion. Syphilitic hepatitis is a recognized entity in the medical literature. It is a manifestation of secondary syphilis and it is more commonly seen in coinfected patients with both syphilis and HIV. Therefore, primary care physicians should keep infectious etiologies (e.g., syphilis and HIV) in the differential diagnosis of patients who present with unexplained liver dysfunction in a cholestatic pattern.
PubDate: Sun, 19 Mar 2017 00:00:00 +000
- Endovascular Stent Grafting for Aortic Arch Aneurysm in Aortoiliac
Occlusive Disease following Aortic Arch Debranching and Aortobifemoral
Abstract: Treatment of thoracic aortic aneurysms constitutes high mortality and morbidity rates despite improvements in surgery, anesthesia, and technology. Endovascular stent grafting may be an alternative therapy with lower risks when compared with conventional techniques. However, sometimes the branches of the aortic arch may require transport to the proximal segments prior to successful thoracic aortic endovascular stent grafting. Atherosclerosis is accounted among the etiology of both aneurysms and occlusive diseases that can coexist in the same patient. In these situations stent grafting may even be more complicated. In this report, we present the treatment of a 92-year-old patient with aortic arch aneurysm and proximal descending aortic aneurysm. For successful thoracic endovascular stent grafting, the patient needed an alternative route other than the native femoral and iliac arteries for the deployment of the stent graft. In addition, debranching of left carotid and subclavian arteries from the aortic arch was also required for successful exclusion of the thoracic aneurysm.
PubDate: Thu, 16 Mar 2017 07:16:07 +000
- Pacemaker Placement in Patients with Stroke-Mediated Autonomic
Abstract: Lateral medullary syndrome (LMS) is an ischemic disease of the medulla oblongata, which involves the territory of the posterior inferior cerebellar artery. Lateral medullary syndrome is often missed as the cause of autonomic dysregulation in patients with recent brain stem stroke. Due to the location of the baroreceptor regulatory center in the lateral medulla oblongata, patients with LMS occasionally have autonomic dysregulation-associated clinical manifestations. We report a case of LMS-associated autonomic dysregulation. The case presented as sinus arrest and syncope, requiring permanent pacemaker placement. A dual-chamber pacemaker was placed, after failure of conservative measures to alleviate the patient’s symptoms. Our case shows the importance of recognizing LMS as a potential cause for life-threatening arrhythmias, heart block, and symptomatic bradycardia. Placement of permanent pacemaker may be necessary in some patients with LMS presenting with syncope, secondary to sinus arrest.
PubDate: Thu, 16 Mar 2017 07:15:34 +000
- A Case of Cortical Deafness due to Bilateral Heschl Gyrus Infarct
Abstract: We report the case of a 58-year-old male who presented with an episode of seizure and abrupt onset hearing loss. Neuroimaging revealed acute infarcts in bilateral Heschl gyri. Objective tests of peripheral auditory function were essentially normal and a diagnosis of cortical deafness was made.
PubDate: Tue, 14 Mar 2017 09:55:34 +000
- Ulcerated Lesion of the Tongue as Manifestation of Systemic
Abstract: Systemic mycoses and their oral manifestations are very rare. We present a case of a 60-year-old man with an ulcerated lesion on the lateral border of the tongue. Histologic studies revealed a granulomatous fungal infection by Coccidioides immitis. After pharmacological treatment, the lesion resolved. Recently, northern Mexico has been reported to be an endemic zone of C. immitis infections; therefore it should be considered in the differential diagnosis of mouth lesions. A comprehensive clinical history, physical exploration, and complementary studies are essential for an accurate diagnosis.
PubDate: Mon, 13 Mar 2017 00:00:00 +000
- Rare Gingival Metastasis by Hepatocellular Carcinoma
Abstract: Hepatocellular carcinoma (HCC) uncommonly metastasizes to the gingiva, which always means a poor outcome. We reported a rare HCC case with multiple metastases to gingiva, lungs, and brain. A 60-year-old man was initially diagnosed as HCC with metastases to double lungs. He was subjected to a transarterial chemoembolization (TACE) (5-fluorouracil, 750 mg) and two cycles of intravenous chemotherapy (gemcitabine 1.8 g at days 1 and 8, oxaliplatin 200 mg at day 2, every 4 weeks). However, the volume of liver tumor still increased. A bean-size gingival nodule growing with occasional bleeding was also found. TACE (5-fluorouracil 750 mg, perarubicin 40 mg, cisplatin 20 mg) was performed again and an oral sorafenib therapy (400 mg, twice per day) was adopted. The disease maintained relatively stable for about 6 months until a second obvious progress. The gingival nodule was then palliatively excised and identified as a poorly differentiated metastatic HCC by histopathological examination. Best supportive treatments were made since the performance score was too bad. Finally, cerebral metastases occurred and the patient died of systemic failure. Upon review of previous reports, we discussed risk factors, clinical and pathological characteristics, treatments, and prognosis of gingival metastasis by HCC.
PubDate: Sun, 12 Mar 2017 00:00:00 +000
- Lung Volume Reduction following Recurrent Pneumonia: An Unusual Finding in
a COPD Patient
Abstract: Chronic Obstructive Pulmonary Disease (COPD) is a progressive disease. Frequent pneumonias and exacerbations are known to accelerate its progression. We present a case of severe emphysema whose lung function paradoxically improved following recurrent pneumonia, without lung volume reduction surgery (LVRS). A 54-year-old female with severe COPD presented for LVRS evaluation. She was not a candidate for the surgery because of the unsuitable anatomic distribution of her emphysema. The patient experienced recurrent pneumonia over the years but her lung function and oxygen requirement showed marked improvement. Follow-up imaging studies showed decreased lung volumes and focal fibrotic changes. We believe that the improvement in her lung function overtime is the reflection of lung volume reduction as a result of parenchymal remodeling due to repeated lung infection. These findings seen in our patient contribute important information for the continued effort in developing nonsurgical lung volume reduction techniques.
PubDate: Wed, 08 Mar 2017 06:36:48 +000
- Alpha-1 Antitrypsin Deficiency Presenting with MPO-ANCA Associated
Vasculitis and Aortic Dissection
Abstract: The combination of alpha-1 antitrypsin (AAT) deficiency, ANCA-vasculitis, and aortic aneurysm has been rarely described in literature. We report an eventually fatal case in a 70-year-old patient who initially presented with giant cell arteritis and ANCA associated glomerulonephritis. Several years later, he presented with aortic dissection due to large vessel vasculitis, raising the suspicion of AAT deficiency, as two first-line relatives had chronic obstructive pulmonary disease, while they never smoked. This diagnosis was confirmed by AAT electrophoresis and immunohistochemistry on a temporal artery biopsy. Considering AAT deficiency in these cases might lead to a more timely diagnosis.
PubDate: Mon, 06 Mar 2017 08:19:42 +000
- Posterior Cord Syndrome and Trace Elements Deficiency as an Uncommon
Presentation of Common Variable Immunodeficiency
Abstract: Diarrhea is one of the most common symptoms in common variable immunodeficiency, but neurologic manifestations are rare. We presented a 50-year-old woman with recurrent diarrhea and severe weight loss that developed a posterior cord syndrome. Endoscopy found a duodenal villous blunting, intraepithelial lymphocytosis, and lack of plasma cells and magnetic resonance imaging of the spine was normal. Laboratory assays confirmed common variable immunodeficiency syndrome and showed low levels of trace elements (copper and zinc). Treatment was initiated with parenteral replacement of trace elements and intravenous human immunoglobulin and the patient improved clinically. In conclusion, physicians must be aware that gastrointestinal and neurologic disorders may be related to each other and remember to request trace elements laboratory assessment.
PubDate: Sun, 05 Mar 2017 08:12:32 +000
- Toothpick inside the Common Bile Duct: A Case Report and Literature Review
Abstract: The incidence and prevalence of foreign body (FB) ingestion are difficult to estimate. Unlike other foreign bodies, the ingestion of a toothpick is very uncommon and carries high morbidity and mortality rates. We report a case of a 73-year-old female patient presenting mid-term epigastric pain. Abdominal ultrasound revealed a slightly dilated common bile duct (CBD) and magnetic resonance showed an irregular filling failure in distal CBD and gallstones. Endoscopic Retrograde Cholangiopancreatography revealed major papilla on the edge of a diverticulum and confirmed the distal filling failure. After sphincterotomy, a partially intact toothpick was extracted from the CBD. Neither fistulas nor perforation signs were found. Literature related to foreign bodies and toothpick ingestion was reviewed and some hypotheses to explain the reported case were created. To our knowledge, this is the first report of a toothpick lodged inside the biliary tract.
PubDate: Sun, 05 Mar 2017 00:00:00 +000
- Paratesticular Angiomyofibroblastoma-Like Tumor: Unusual Case of a
Abstract: The angiomyofibroblastoma-like tumor of the male genital tract is a rare benign tumor. A total of 34 cases have been reported in the literature. We herein report an exceptional case of solidocystic form in its paratesticular location, in a 79-year-old man. Clinical examination objectified a right testicular induration. Macroscopic examination of the orchidectomy objectified a paratesticular solidocystic tumor formation. Microscopically, the solid area was composed of vessels with small caliber and turgidity of endothelial cells. These vessels were surrounded by clusters of epithelioid cells, sometimes having the appearance of giant cells. They were associated with spindle cells. The cystic area was uncoated. Immunohistochemically, the fusiform cells expressed Desmin and Smooth Muscle Actin. Endothelial cells and clusters of cells surrounding large vessels expressed CD34. The expression of receptors for estrogen and progesterone was negative. To our knowledge, this is the second solidocystic case of angiomyofibroblastoma-like tumor of male genital tract.
PubDate: Tue, 28 Feb 2017 14:07:47 +000
- A Rare Case of Stroke Secondary to Iron Deficiency Anemia in a Young
Abstract: Ischemic strokes occur when there is a sudden obstruction of an artery supplying blood flow to an area of the brain, leading to a focal neurological deficit. Strokes can be thrombotic or embolic in etiology and are associated with underlying conditions such as hypertension and atherosclerosis. Possible etiologies of strokes include cardioembolic disease, hematologic disorders, connective tissue disorders, and substance abuse or can be cryptogenic. Most stroke cases are seen in patients over 65 years of age. However, about one-fourth of strokes occur in young adults. Iron deficiency anemia (IDA) has been described as a known cause for strokes in children, but very few case reports describe this association in adults. We describe a 20-year-old female who presented with sudden onset left side weakness. Magnetic Resonance Imaging (MRI) of the brain demonstrated ischemic infarctions. Patient was also found to be severely anemic. Patient had a thorough work-up including Magnetic Resonance Angiography (MRA) of the brain, echocardiogram, and an extensive screen for thrombophilia disorders. This, however, did not demonstrate a clear etiology. As it has been suggested that IDA is a potential cause for stroke, it is possible the stroke in this young patient was attributable to severe IDA.
PubDate: Tue, 28 Feb 2017 00:00:00 +000
- Bilateral Olecranon Tophaceous Gout Bursitis
Abstract: In this case, we present a patient with the diagnosis of bilateral olecranon tophaceous gout. After the surgical treatment, there was no limitation of range of motion or wound problem at 6th month control.
PubDate: Thu, 23 Feb 2017 07:42:39 +000
- BK Virus Encephalitis in HIV-Infected Patients: Case Report and Review
Abstract: Encephalitis and meningitis due to BKPyV are unusual and emerging condition. Only a few cases of BKPyV encephalitis have been reported in hematopoietic stem cell transplant recipients, with the majority of cases presenting with concurrent hemorrhagic cystitis and HIV-infected patients. The authors report two HIV-infected patients with the diagnosis of BKPyV encephalitis and discuss the main clinical, diagnostic, and therapeutic aspects of this infection in patients with AIDS. Physicians should be aware to recognize the main clinical features and diagnose BKPyV central nervous infection in the setting of AIDS.
PubDate: Thu, 23 Feb 2017 06:58:44 +000
- Idiopathic Harlequin Syndrome Manifesting during Exercise: A Case Report
and Review of the Literature
Abstract: Harlequin syndrome is a rare autonomic disorder characterized by unilateral facial flushing and sweating with contralateral anhidrosis induced by exercise, heat, and emotion. It is usually idiopathic but could be the first manifestation of several serious underlying medical conditions. Medical or surgical treatments are not required for idiopathic Harlequin syndrome, but social and psychological factors may indicate sympathectomy or botulinum toxin injection. In this article, we report a case of idiopathic Harlequin syndrome and review the literature.
PubDate: Tue, 21 Feb 2017 06:18:18 +000
- Combination Treatment of Perioperative Rehabilitation and Psychoeducation
Undergoing Thoracic Surgery
Abstract: Postoperative pulmonary complications are a risk associated with thoracic surgery. However, there have been few reports on cases at high risk of postoperative complications. Cancer patients often have negative automatic thoughts about illness, and these negative automatic thoughts are associated with reduced health behavior and physical activity. This case series demonstrates the successful combination treatment of perioperative rehabilitation and psychoeducation for negative automatic thoughts in two cancer patients who underwent thoracic surgery. One patient underwent pneumonectomy with laryngeal recurrent nerve paralysis; the other patient, who had a history of recurrent hepatic encephalopathy and dialysis, underwent S6 segmentectomy. Both patients had negative automatic thoughts about cancer-related stress and postoperative pain. The physical therapists conducted a perioperative rehabilitation program in which the patients were educated to replace their maladaptive thoughts with more adaptive thoughts. After rehabilitation, the patients had improved adaptive thoughts, increased physical activity, and favorable recovery without pulmonary complications. This indicates that the combination treatment of perioperative rehabilitation and psychoeducation was useful in two thoracic cancer surgery patients. The psychoeducational approach should be expanded to perioperative rehabilitation of patients with cancer.
PubDate: Thu, 09 Feb 2017 06:52:49 +000
- A Case of Congenitally Corrected Transposition of Great Arteries: An
Abstract: Congenitally corrected transposition of the great arteries (CCTGA) is rare form of congenital heart diseases. It may be present with or without associated anomalies. Patients with CCTGA are usually diagnosed at early stages of life due to associated anomalies, but they may even remain asymptomatic till later decades of their life. We report a case of a 42-year-old man who presented at neurosurgery department with dizziness, seizures, and loss of consciousness, in whom isolated CCTGA was discovered incidentally. Further investigation depicted right ventricular hypertrophy, mild valvular regurgitation, mildly dilated pulmonary artery, low heart rate with AV dissociation, and third-degree heart block. These indicated for implantation of permanent pacemaker into the patient. The implantation of VVI mode pacemaker was uneventful and the patient is being followed up in the past eight months in favorable condition.
PubDate: Thu, 09 Feb 2017 00:00:00 +000
- Pernicious Anemia Associated Cobalamin Deficiency and Thrombotic
Microangiopathy: Case Report and Review of the Literature
Abstract: A 43-year-old Hispanic male without significant previous medical history was brought to emergency department for syncope following a blood draw to investigate a 40 lbs weight loss during the past 6 months associated with decreased appetite and progressive fatigue. The patient also reported a 1-month history of jaundice. On examination, he was hemodynamically stable and afebrile with pallor and diffuse jaundice but without skin rash or palpable purpura. Normal sensations and power in all extremities were evident on neurological exam. Presence of hemolytic anemia, schistocytosis, thrombocytopenia, and elevated lactate dehydrogenase (LDH) was suggestive of thrombotic thrombocytopenic purpura (TTP). However, presence of leukopenia, macrocytes, and an inadequate reticulocyte response to the degree of anemia served as initial clues to an alternative diagnosis. Two and one units of packed red blood cells were transfused on day 1 and day 3, respectively. In addition, one unit of platelets was transfused on day 2. Daily therapeutic plasma exchange (TPE) was initiated and continued until ADAMTS-13 result ruled out TTP. A low cobalamin (vitamin B12) level was evident at initial laboratory work-up and subsequent testing revealed positive intrinsic factor-blocking antibodies supporting a diagnosis of pernicious anemia with severe cobalamin deficiency. Hematological improvement was observed following vitamin B12 supplementation. The patient was discharged and markedly improved on day 9 with outpatient follow-up for cobalamin supplementation.
PubDate: Mon, 06 Feb 2017 07:12:51 +000
- Myopericarditis and Pericardial Effusion as the Initial Presentation of
Systemic Lupus Erythematosus
Abstract: Myopericarditis with a pericardial effusion as the initial presenting feature of SLE is uncommon. We report an unusual case of myopericarditis and pericardial effusion with subsequent heart failure, as the initial manifestation of SLE. The timely recognition and early steroid administration are imperative in SLE-related myopericarditis with cardiomyopathy to prevent the mortality associated with this condition.
PubDate: Sun, 05 Feb 2017 11:50:32 +000
- Cooccurrence of Metastatic Papillary Thyroid Carcinoma and Salmonella
Induced Neck Abscess in a Cervical Lymph Node
Abstract: Cervical lymph node metastasis is common in patients with papillary thyroid carcinoma (PTC). Salmonella species are rarely reported as causative agents in focal infections of the head and neck. The cooccurrence of lymph node metastasis from PTC and a bacterial infection is rare. This report describes a 76-year-old woman with a cervical lymph node metastasis from PTC and Salmonella infection of the same lymph node. The patient presented with painful swelling in her left lateral neck region for 15 days, and neck ultrasonography and computed tomography showed a cystic mass along left levels II–IV. The cystic mass was suspected of being a metastatic lymph node; modified radical neck dissection was performed. Histopathological examination confirmed the presence of PTC in the resected node and laboratory examination of the combined abscess cavity confirmed the presence of Salmonella Typhi. Following antibiotic sensitivity testing of the cultured Salmonella Typhi, she was treated with proper antibiotics. Cystic lesions in lymph nodes with metastatic cancer may indicate the presence of cooccurring bacterial infection. Thus, culturing of specimen can be option to make accurate diagnosis and to provide proper postoperative management.
PubDate: Sun, 05 Feb 2017 11:48:29 +000
- Implications of Antiphospholipid and Antineutrophilic Cytoplasmic
Antibodies in the Context of Postinfectious Glomerulonephritis
Abstract: While antineutrophil cytoplasmic antibody (ANCA) positivity has been documented in some patients with postinfectious glomerulonephritis (PIGN) and is associated with more severe disease, antiphospholipid antibodies (APA) are not known to be a common occurrence. We describe a child with severe acute kidney injury who was noted to have prolonged positivity of both ANCA and APA; a renal biopsy showed noncrescentic immune complex mediated glomerulonephritis with subepithelial deposits compatible with PIGN. He recovered without maintenance immunosuppressive therapy and at last follow-up had normal renal function. We discuss the cooccurrence and implications of ANCA and APA in children with PIGN.
PubDate: Wed, 01 Feb 2017 08:16:32 +000
- Xeroderma Pigmentosum with Severe Neurological Manifestations/De
Sanctis–Cacchione Syndrome and a Novel XPC Mutation
Abstract: Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.
PubDate: Wed, 01 Feb 2017 00:00:00 +000
- Meretoja’s Syndrome: Lattice Corneal Dystrophy, Gelsolin Type
Abstract: Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various organs. The age of onset is usually after the third decade of life and typical diagnostic triad includes progressive bilateral facial paralysis, loose skin, and lattice corneal dystrophy. We report a case of a 53-year-old female patient referred to our Department of Ophthalmology by severe dry eye and incomplete eyelid closure. She had severe bilateral facial paresis, significant orbicularis, and perioral sagging as well as hypoesthesia of extremities and was diagnosed with Meretoja’s syndrome at the age of 50, confirmed by the presence of gelsolin mutation. At our observation she had bilateral diminished tear film break-up time and Schirmer test, diffuse keratitis, corneal opacification, and neovascularization in the left eye. She was treated with preservative-free lubricants and topical cyclosporine, associated with nocturnal complete occlusion of both eyes, and underwent placement of lacrimal punctal plugs. Ocular symptoms are the first to appear and our role as ophthalmologists is essential for the diagnosis, treatment, and monitoring of ocular alterations in these patients.
PubDate: Tue, 31 Jan 2017 00:00:00 +000
- A Giant Lumbar Pseudomeningocele in a Patient with Neurofibromatosis Type
1: A Case Report
Abstract: This is a rare case of giant lumbar pseudomeningocele with intra-abdominal extension in patient with neurofibromatosis type 1 (NF1). The patient’s clinical course is retrospectively reviewed. A 34-year-old female affected by NF1 was referred to our institution for persistent low back pain and MRI diagnosis of pseudomeningocele located at L3 level with paravertebral extension. From the first surgical procedure by a posterior approach until the relapse of the pseudomeningocele documented by MRI, the patient underwent two subsequent posterior surgical procedures to repair the dural sac defect with fat graft and fibrin glue. One month after the third operation, the abdominal MRI showed a giant intra-abdominal pseudomeningocele causing compression of visceral structures. The patient was asymptomatic. The pseudomeningocele was treated with an anterior abdominal approach and the use of the acellular dermal matrix (ADM) sutured directly on the dural defect on the anterolateral wall of the spinal canal. After six months of follow-up the MRI showed no relapse of the pseudomeningocele. Our case highlights the possible use of ADM as an effective and safe alternative to the traditional fat graft to repair challenging and large dural defects.
PubDate: Tue, 31 Jan 2017 00:00:00 +000
- An Undiagnosed Case of Hypothalamic Hamartoma with a Rare Presentation
Abstract: Background. Hypothalamic hamartomas (HHs) are rare tumor-like malformations that may present with complex partial seizures refractory to anticonvulsants in adulthood. The condition may be misdiagnosed because of rarity. Case Presentation. We report a 25-year-old man with complaint of seizures presented by falling, tonic spasm of limbs, oral automatism, vocalization, and hypermotor activities. His seizures started at the age of one month and presented as eye deviation and upper limbs myoclonic jerk, followed by frequent seizures with variable frequency. The patient had delayed developmental milestones and was mentally retarded. He was hospitalized and underwent video-EEG monitoring and neuroimaging, and the diagnosis of HH was made. The patient became candidate for surgery after that. Conclusion. In this case, the underlying etiology of seizures was diagnosed after 25 years. HH is a rare condition and neurologists may encounter very small number of these cases during their practice. Therefore, they should consider it in patients who present with suspected signs and symptoms.
PubDate: Thu, 26 Jan 2017 08:51:17 +000
- Lipoma Arborescens of the Knee: Report of Three Cases and Review of the
Abstract: Lipoma arborescens is a chronic, slow-growing, intra-articular lesion of benign nature, which is characterized by villous proliferation of the synovium, with replacement of the subsynovial connective tissue by mature fat cells. It usually involves the suprapatellar pouch of the knee joint. It is not a neoplasm but is rather considered a nonspecific reactive response to chronic synovial irritation, due to either mechanical or inflammatory insults. We report three cases of lipoma arborescens affecting the knee, the first in a young male without previous history of arthritis or trauma, the second in a 58-year-old male associated with osteoarthritis, and the final in a 44-year-old male diagnosed with psoriatic arthritis, which cover the entire pathologic spectrum of this unusual entity. We highlight the clinical findings and imaging features, by emphasizing especially the role of MRI, in the differential diagnosis of other, more complex intra-articular masses.
PubDate: Tue, 24 Jan 2017 08:40:04 +000
- Bilateral Tensor Fasciae Suralis Muscles in a Cadaver with Unilateral
Accessory Flexor Digitorum Longus Muscle
Abstract: Muscle variants are routinely encountered in the dissection laboratory and in clinical practice and therefore anatomists and clinicians need to be aware of their existence. Here we describe two different accessory muscles identified while performing educational dissection of a 51-year-old male cadaver. Tensor fasciae suralis, a rare muscle variant, was identified bilaterally and accessory flexor digitorum longus, a more common muscle variant, was present unilaterally. Tensor fasciae suralis and accessory flexor digitorum longus are clinically relevant muscle variants. To our knowledge, the coexistence of tensor fasciae suralis and accessory flexor digitorum longus in the same individual has not been reported in either cadaveric or imaging studies.
PubDate: Sun, 22 Jan 2017 00:00:00 +000