Abstract: Although primary hemifacial spasm (HFS) is mostly related to a vascular compression of the facial nerve at its root exit zone (REZ), its occurrence in association with distal, cisternal portion has been repeatedly reported during the last two decades. We report two patients with typical HFS caused by distal neurovascular compression, in which the spasm was successfully treated with microvascular decompression (MVD). Vascular compression of distal, cisternal portion of the facial nerve was identified preoperatively in the magnetic resonance imaging (MRI). It was confirmed again with intraoperative findings of compression of cisternal portion of the facial nerve by the meatal loop of the anterior inferior cerebellar artery (AICA) and absence of any offending vessel in the REZ of the facial nerve. Immediate disappearance of lateral spread response (LSR) after decompression and resolution of spasm after the operation again validated that HFS in the current patients originated from the vascular compression of distal, cisternal portion of the facial nerves. According to our literature review of 64 patients with HFS caused by distal neurovascular compression, distal compression can be classified by pure distal neurovascular compression (31 cases, 48.4%) and double compression (both distal segment and the REZ of the facial nerves, 33 cases [51.6%]) according to the presence or absence of simultaneous offender in the REZ. Eighty-four percent of 64 identified distal offenders were the AICA, especially its meatal and postmeatal segments. Before awareness of distal neurovascular compression causing HFS and sophisticated MRI imaging (before 2000), the rate of reoperation was high (58%). Preoperative MRI and intraoperative monitoring of LSR seems to be an essential element in determination of real offending vessel in MVD caused by distal offender. PubDate: Tue, 01 Jan 2019 10:20:14 +000
Abstract: Most meningiomas are benign, encapsulated tumors (95% of the cases), generally undergoing a limited number of genetic aberrations. We present the case of a 74-year-old patient with no significant pathological history, who is admitted to the neurology ward for orofacial dyskinesias accompanied by hypoesthesia in the left hemiface, a symptomatology that had started insidiously about two months before and worsened progressively over the past 3 weeks. A cerebral MRI was performed which revealed a small mass with discrete T2 hyperintensity and T1 iso-signal compared to the gray matter located in the left pontine cistern, with a large, well-defined base at the level of the cerebral tentorium. The diagnosis of trigeminal meningioma was established and the treatment was started, after hearing the opinion of a neurosurgeon. PubDate: Mon, 31 Dec 2018 06:38:32 +000
Abstract: Fat embolism syndrome (FES) typically occurs following orthopedic trauma and may present with altered mental status and even coma. Nonconvulsive status epilepticus is an electroclinical state associated with an altered level of consciousness but lacking convulsive motor activity and has been reported in fat embolism. The diagnosis is clinical and is treated with supportive care, antiepileptic therapy, and sedation. A 56-year-old male presented with altered mental status following internal fixation for an acute right femur fracture due to a motor vehicle accident 24 hours earlier. Continued neuromonitoring revealed nonconvulsive status epilepticus. Magnetic resonance imaging of the brain showed multiple bilateral acute cerebral infarcts with a specific pattern favoring the diagnosis of fat embolism syndrome. He was found to have a significant right to left intracardiac shunt on a transesophageal echocardiogram. He improved substantially over time with supportive therapy, was successfully extubated on day 6, and discharged to inpatient rehabilitation on postoperative day 15. Fat embolisms can result in a wide range of neurologic manifestations. Nonrefractory nonconvulsive status epilepticus that responds to antiepileptic drugs, sedation, and supportive therapy can have a favorable outcome. A high index of suspicion and early recognition reduces the chances of unnecessary interventions and may improve survival. PubDate: Thu, 20 Dec 2018 00:00:00 +000
Abstract: Sarcoidosis is a systemic disease with cardiac involvement occurring in 20-50% of cases. Cardiogenic stroke caused by cardiac sarcoidosis, especially PCA infarction, is a rare clinical presentation that necessitates timely diagnosis and may warrant treatment prophylaxis against CVA. In this case report, we describe a 54-year-old Caucasian male presenting with left PCA stroke in the setting of cardiac and pulmonary sarcoidosis, and hypertension. His presenting symptoms included right partial hemianopia, difficulty with naming, memory, and recall, and alexia without agraphia. Cardiogenic stroke is an uncommon manifestation of cardiac sarcoidosis, and given the disabling nature of these sequelae, the importance of early diagnosis and prevention with anticoagulation is crucial to prevent morbidity and mortality. PubDate: Mon, 17 Dec 2018 06:54:45 +000
Abstract: Objectives. The increased risk of thromboembolic complications with active cancer is well known. We present this case to highlight that chemotherapy may increase the risk of thromboembolic events even further in cancer patients. Methods. We report a case of a 64-year-old male with Diffuse Large B-Cell Non-Hodgkin’s Lymphoma who presented with left-sided headache and right calf pain two weeks after starting Rituximab/Gemcitabine/Cisplatin/Dexamethasone chemotherapy. Neurological examination was normal, but there was an absent right dorsalis pedis pulse. He subsequently developed left vision loss. CT angiogram of the head and neck revealed occlusion of his left internal carotid artery and poor opacification of the left ophthalmic artery. An angiogram of the right leg further revealed acute occlusion of the popliteal artery. Results. The patient underwent intra-arterial Tissue Plasminogen Activator injection to his lower limb and was started on Low Molecular Weight Heparin. His vision gradually recovered with time. His chemotherapy regimen was changed to RICE (Rituximab, Ifosfamide, Carboplatin, Etoposide). Conclusion. Based on literature review, there are numerous similar presentations of arterial thromboembolism in patients on Cisplatin-based chemotherapy. A high index of suspicion for such events should be maintained for patients on chemotherapy presenting with unusual symptoms. PubDate: Mon, 17 Dec 2018 00:00:00 +000
Abstract: Mitochondrial (mt) tRNA (MTT) gene mutations are an important cause of mitochondrial diseases and are associated with a wide range of clinical presentations. Most mutations fall into three mitochondrial tRNAs (tRNAIle, tRNALeu (UUR), and tRNALys) and are responsible for half of the mitochondrial diseasees associated with tRNA mutation, with MERRF, MELAS, mitochondrial myopathy, and Leigh syndrome being the most frequent phenotypes. More than 100 tRNA pathogenetic mutations are described, showing little correlation between the observed clinical phenotype and a specific mitochondrial tRNA mutation. Furthermore different mutation can manifest with similar clinical phenotypes, making the genotype-phenotype correlation difficult. Here we report the case of an Italian 53-year-old woman presenting with a proximal myopathy and the m.5835G>A mutation in MT-TY gene coding for the mitochondrial tRNA Tyrosine gene. PubDate: Mon, 10 Dec 2018 00:00:00 +000
Abstract: Background. A serum immunoglobulin G (IgG) autoantibody specific for the myelin oligodendrocyte glycoprotein (MOG) is detected in the subgroup patients with inflammatory demyelinating diseases of the central nervous system (CNS). However, whether MOG-IgG contributes to blood-brain barrier (BBB) impairment remains poorly characterized. Findings. We report a 30-year-old previously healthy female who presented with attacks on the optic nerves and a demyelinating spinal cord lesion, in which the blood–CNS barriers including leptomeningeal blood barrier and BBB were altered, as demonstrated by gadolinium-enhanced MRI during relapse. Blood samples taken at onset and four years later were retrospectively found positive for MOG-IgG. Conclusion. Our findings demonstrate that MRI-detected leptomeningeal enhancement occurs in MOG-IgG positive patients, accompanying intraparenchymal BBB breakdown during attack. The findings suggest that meningeal inflammation occurs following MOG-IgG-related parenchymal inflammation. PubDate: Sun, 09 Dec 2018 10:27:14 +000
Abstract: Background. The great majority of cases of cluster headache (CH) are primary, but there are several reported cases of CH secondary to underlying structural lesions. The identification of these lesions is crucial for the achievement of an effective treatment and favorable outcome, although the determination of a cause-effect relationship between the two entities may be challenging. Case Report. We present the first case of CH secondary to sphenoid sinus mucocele. Discussion. This case reinforces the need to perform neuroimaging studies in CH patients in order to identify lesions that can constitute its cause, especially if atypical features are present. Activation of the trigeminovascular system due to direct contact between the lesion and the trigeminal nerve or by local edema and inflammation possibly plays a role in the pathophysiology of this CH secondary to sphenoid sinus mucocele. PubDate: Wed, 05 Dec 2018 00:00:00 +000
Abstract: Demyelinating lesions larger than 2 cm in diameter, with or without edema, are known as tumefactive demyelinating lesions (TDLs). They constitute a rare inflammatory demyelinating disorder of the central nervous system. TDLs are typically characterized by headaches, cortical symptoms such as aphasia, hemiparesis, hemisensory deficits, seizures, and changes in consciousness. TDLs may occur in patients with or without an established diagnosis of MS or may occur as the initial demyelinating event. They may also be observed during follow-up in patients with MS, neuromyelitis optica, acute disseminated encephalomyelitis, or other autoimmune diseases. Differential diagnosis includes brain tumors, abscess, granulomatous diseases, and vasculitis. In some cases, it may be very difficult to distinguish TDLs from a tumor, such that biopsy might be needed. However, no cases of asymptomatic TDLs have yet been reported in the literature. Hence, in this report, we present a case involving an asymptomatic TDL detected incidentally during magnetic resonance imaging in an 18-year-old man. The patient did not develop any symptoms during the 1-year follow-up period. During follow-up, the patient was diagnosed with a radiologically isolated syndrome. TDLs have not previously been identified as radiologically isolated syndrome. Thus, reporting similar cases in the future will help in further understanding this phenomenon. PubDate: Wed, 28 Nov 2018 00:00:00 +000
Abstract: Background. Posterior reversible encephalopathy syndrome (PRES) is characterized by a variable association of symptoms including headache, consciousness impairment, visual disturbances, seizures, and focal neurological signs. Treating the underlying cause usually leads to partial or complete resolution of symptoms within days or weeks. Brain MRI findings include hyperintensities on T2-weighted sequences and their reversibility on follow-up exams. We describe two patients, one with an atypical clinical presentation characterized by a severe and prolonged impairment of consciousness and the other with atypical neuroimaging findings. Case Presentation. The first patient was a 42-year-old woman, with a negative medical history, presenting with seizures, lethargy, and left hemiparesis, 60 hours after uncomplicated delivery. Brain MRI showed an atypical pattern of alterations, with patchy asymmetric distribution in all lobes. Symptoms completely resolved after twelve days. The second patient was a 59-year-old woman with a history of hypertension, presenting with severe impairment of consciousness, vision loss, and seizures. Symptoms partially resolved after three weeks. Conclusion. PRES is characterized by reversible symptoms and radiological findings. Brain MRI usually shows widespread oedema in white matter with typical patterns. The cases we described suggest that PRES may presents with atypical symptoms and radiological manifestations, mimicking other neurological conditions. PubDate: Sun, 25 Nov 2018 00:00:00 +000
Abstract: Musical hallucinations are a relatively rare form of auditory hallucination characterized by hearing of music in the absence of any external stimuli. This phenomenon has been linked to both psychiatric and structural lesions. We present the case of a previously healthy young male whose presentation with musical hallucinations led to the diagnosis of a rare tumour, anaplastic pleomorphic xanthoastrocytoma. PubDate: Sun, 11 Nov 2018 08:17:35 +000
Abstract: Blood culture-negative endocarditis is often severe and difficult to diagnose. It is necessary to emphasize the importance for the early diagnosis and accurate treatment of blood culture-negative endocarditis. Here, we described the relevant clinical information of a blood culture-negative but clinically diagnosed infective endocarditis complicated by intracranial mycotic aneurysm, brain abscess, and posterior tibial artery pseudoaneurysm. This patient was a 65-year-old man with a 9-month history of intermittent fever and died in the end for the progressive neurological deterioration. Although the blood culture is negative, this patient was clinically diagnosed as infective endocarditis according to Duke criteria. This patient course was complicated not only by cerebral embolism, intracranial mycotic aneurysm, and brain abscess but also by posterior tibial artery aneurysm of the lower extremity. The clinical findings of this patient suggest that the confirmatory microbiology is essential for the treatment of blood culture-negative infective endocarditis. Clinicians should be aware of the detriment of blood culture-negative infective endocarditis for its multiple complications may occur in one patient. The delayed etiological diagnosis and insufficient treatment may aggregate the clinical outcome of blood culture-negative infective endocarditis. PubDate: Thu, 08 Nov 2018 07:01:53 +000
Abstract: Creutzfeldt-Jakob disease is a rare, rapidly progressive spongiform encephalopathy in humans. EEG plays an important role in diagnosing this disease. In some patients, epileptic activity and encephalopathy from various aetiologies may share morphological features on EEG. This similarity could create difficulties in EEG interpretation, especially if the patient presents with disturbed consciousness. In this case report, a 74-year-old female with Creutzfeldt-Jakob disease presented initially with rapidly progressive impairment of consciousness and focal epileptiform activity on EEG. An EEG performed 25 days later showed periodic sharp-wave complexes with triphasic morphology at a rate of 0.5 Hz, compatible with a diagnosis of Creutzfeldt-Jakob disease. Based on these results, we recommend that a diagnosis of Creutzfeldt-Jakob disease be considered in patients presenting with a rapid deterioration of consciousness and a clinical presentation of nonconvulsive status epilepticus. Monitoring these patients with serial EEGs could be useful to establish an accurate diagnosis. PubDate: Sun, 04 Nov 2018 09:02:13 +000
Abstract: The management of SE during pregnancy is especially challenging to the treating physician. While antiepileptic medications might cause teratogenicity, SE can have significant morbidity and mortality on both the mother and the developing fetus. This case report demonstrated the successful use of ketamine infusion in the management of RSE in pregnancy without affecting the immediate outcome of pregnancy. The fetus survived this complicated ICU stay and outpatient follow-up was generally uncomplicated. The pregnancy was ended with a delivery of a normal female newborn. PubDate: Thu, 25 Oct 2018 06:55:10 +000
Abstract: Multilevel cervical disconnection syndrome (MCDS) is a rare malformation of the cervical spine previously documented in two toddlers. We present a case of a newborn first thought to have hypoxic-ischemic encephalopathy who was subsequently diagnosed with MCDS. The possibility of in utero presentation of the syndrome in this patient and the categorization of this syndrome in the spectrum of basilar skull/upper cervical malformation syndromes is discussed. PubDate: Wed, 24 Oct 2018 07:43:05 +000
Abstract: A 75-year-old woman was admitted to ICU with coma following Streptococcus pneumoniae meningitis with bacteremia. Her Glasgow Coma Scale (GCS) score fluctuated around 4 to 6 over the next four weeks. There was no evidence of increased intracranial pressure (ICP). Electroencephalogram (EEG) showed only diffuse aspecific slowing. Impaired cerebral blood flow (CBF) autoregulation was suggested at transcranial Doppler (TCD). Repeated brain magnetic resonance imaging (MRI) examination failed to demonstrate venous thrombosis, arterial ischemic stroke, or brain abscesses but revealed diffuse but reversible cortical cytotoxic edema at diffusion-weighted (DW) sequences. The brain FDG-positron emission tomography (FDG-PET) showed diffuse cortical hypometabolism. The patient unexpectedly experienced a complete neuropsychological recovery the next few weeks. The suggested hypothesis to explain this unusual disease course could be a transient alteration of CBF autoregulation due to some degree of diffuse subcortical microangiopathy. A concomitant reduction of brain metabolism probably prevented the progression towards cortical irreversible ischemic damage. PubDate: Tue, 09 Oct 2018 00:00:00 +000
Abstract: Methamphetamine or “meth” is a sympathomimetic amine of the amphetamine-type substances (ATS) class with an extremely high potential for abuse. Illicitly abused neurostimulants like cocaine and meth predispose patients to the aneurysmal formation with reported rupture at a younger age and in much smaller sized aneurysms. However, very rapid growth of aneurysm within less than 2 weeks with methamphetamine abuse is very rarely observed or reported. In this report, we present a patient with repeated and recurrent meth abuse who demonstrated rapid growth of a pericallosal aneurysm over the period of less than two weeks. The pathophysiology of stroke related to meth and ATS abuse is multifactorial with hypertension, tachycardia, and vascular disease postulated as major mechanisms. The rapid growth of an aneurysm has a high risk of aneurysmal rupture and SAH, which is a neurosurgical emergency and therefore warrants careful consideration and close monitoring. This case confirms the dynamic temporal effects of methamphetamine use on intracranial vessels and this specific neurostimulants association to rapid aneurysmal formation. In light of vascular pathologies the possibility of drug-induced pseudoaneurysm should also be considered in young patients with history of meth abuse. PubDate: Thu, 04 Oct 2018 07:09:39 +000
Abstract: Meningoencephalitis is a rare complication of relapsing polychondritis. We report a case of a 25-year-old male who presented with visual hallucinations and symptoms of depression and anxiety, white matter changes on MRI, and CSF lymphocytosis, along with inflammatory chondritis seen in his auricle cartilage biopsy. Eventually he was given the diagnosis of RP presenting with meningoencephalitis based on CSF analysis, brain MRI findings, negative serologies, and neurologic exam findings. The patient’s clinical state did not improve despite being on IV methylprednisolone for a period of 7 days; afterwards he was switched to oral prednisone with no clinical improvement. As a result, he was given cyclophosphamide and rituximab, respectively, without benefit. He also underwent craniectomy with VP shunt due to worsening hydrocephalus and a brain biopsy was done to confirm the diagnosis. He is currently on methotrexate and steroid dependent with a goal to taper down. Even though all 19 reported cases of meningoencephalitis with RP in the literature did respond to immunosuppressive therapy, in our case, however the patient did not respond to immunosuppressive treatment and currently is in mute dementia status after three years of treatment. PubDate: Wed, 03 Oct 2018 09:26:46 +000
Abstract: McArdle disease is a metabolic myopathy mainly characterised by symptom onset during physical activities or isometric muscle contraction. Resistance (also termed strength) training is a type of physical exercise focusing on the use of resistance (e.g., lifting weights) to induce muscular contraction, which builds muscle mass and strength. Historically people with McArdle disease were advised to avoid resistance exercises and any other form of physical activity involving high mechanical loads such as prolonged isometric contraction. Paradoxically, a clinical trial exploring the benefits of strength training in this patient population was published. The theory supporting strength training relied on the use of the ATP molecule and the creatine phosphate (ATP-phosphocreatine system) as energy sources for skeletal muscles. Here, we report two patients with McArdle disease who performed weight training at local gyms. A single set of repetitions lasted for maximum 10 seconds with minimum of 30 seconds of rest period in between sets of exercises. Benefits of this type of training included improvement in quality of life and amelioration of McArdle disease symptoms. We provide further safety evidence of this type of exercise in people with McArdle disease. We emphasise the importance of using a specific protocol developed for people affected by this condition. PubDate: Sun, 30 Sep 2018 06:17:10 +000
Abstract: Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system. Clinical presentation is highly variable, with infantile and late-onset (LOPED) forms. Although muscle biopsy findings are rather stereotyped, atypical features have been described. A 52-year-old man without a family history of muscle disorders presented with slowly progressing upper and lower limb girdle weakness and hyperCKemia. At needle EMG, a diffuse neurogenic pattern was detected. Muscle biopsy showed a selective type 1 fiber atrophy with vacuoles of various sizes, filled with PAS and acid phosphatase positive material, confirmed to be glycogen by electron microscopy (EM). Many atrophic fibers contained foci of myofibrillar material recognized as nemaline bodies (NBs) at EM. Low level of alpha-glucosidase activity in blood and molecular genetic testing confirmed the diagnosis of late-onset Pompe disease (LOPED). Major causes of hereditary and acquired NB myopathy were ruled out. In conclusion, NBs represent a novel histological finding in LOPED and characterize the atypical presentation of our case. PubDate: Thu, 27 Sep 2018 06:44:58 +000
Abstract: Background. The unilateral fetal variant of the posterior cerebral artery (FPCA) is characterized by the congenital absence of the P1 arterial segment. The artery of Percheron (AOP) is an uncommon vascular variant, in which a single dominant thalamoperforating arterial trunk arises from one P1 segment, bifurcates, and provides bilateral supply to the paramedian thalami and rostral midbrain. Case Presentation. This is a retrospective case study of a 37-year-old man with multiple lifestyle risk factors (chronic marijuana and tobacco abuse), who suffered a thalamomesencephalic stroke, rapidly worsening to comatose state. After restoration of consciousness, he clinically manifested with left paramedian midbrain syndrome. Imaging demonstrated an asymmetric paramedian thalamic infarction with mesencephalon extension, patency of the basilar, vertebral arteries, and left PCA and right-sided FPCA, respectively. Left-sided thalamoperforating arterioles were not differentiated; AOP was inferred. Neither evident clinical source of embolus nor prothrombotic states were found. Mobile cardiac telemetry and transesophageal echocardiography were not available. The diagnosis was established too late for thrombolytic treatment. Anticoagulation was indicated during the acute and subacute stages, followed by low dose of antiplatelet. Discussion. This uncommon cerebrovascular configuration (FPCA+AOP) might be the fourth case described in the literature. Sustained rehabilitation and abstinence from tobacco and cannabis led to favorable outcomes. PubDate: Mon, 24 Sep 2018 00:00:00 +000
Abstract: Cerebral hyperperfusion syndrome (CHPS) is a complication that can occur after cerebral revascularization surgeries such as superficial temporal artery- (STA-) middle cerebral artery (MCA) anastomosis, and it can lead to neurological deteriorations. CHPS is usually temporary and disappears within two weeks. The authors present a case in which speech disturbance due to CHPS lasted unexpectedly long and three months was taken for full recovery. A 40-year-old woman, with a history of medication of quetiapine, dopamine 2 receptor antagonist as an antipsychotics for depression, underwent STA-MCA anastomosis for symptomatic left MCA stenosis. On the second day after surgery, the patient exhibited mild speech disturbance which deteriorated into complete motor aphasia and persisted for one month. SPECT showed the increase of cerebral blood flow (CBF) in left cerebrum, verifying the diagnosis of CHPS. Although CBF increase disappeared one month after surgery, speech disturbance continued for additionally two months with a slow improvement. This case represents a rare clinical course of CHPS. The presumable mechanisms of the prolongation of CHPS are discussed, and the medication of quetiapine might be one possible cause by its effect on cerebral vessels as dopamine 2 receptor antagonist, posing the caution against antipsychotics in cerebrovascular surgeries. PubDate: Sun, 23 Sep 2018 06:22:12 +000
Abstract: Background. Cranial nerve palsies are well-known complications of basal meningitis, especially in patients with tuberculous meningitis. However, a minority of bacterial meningitis gets complicated with cranial nerve palsies. Although cerebral infarctions are known to occur with acute bacterial meningitis, infarctions occurring in the brainstem are infrequently described. Case Presentation. We report a 46-year-old healthy female who presented with dysarthria with fever, headache, and vomiting and was diagnosed to have acute pyogenic meningitis complicated with a brainstem infarction resulting in bilateral hypoglossal palsy. Her MRI revealed an infarction in the lower part of the medulla oblongata, probably involving the bilateral hypoglossal nuclei. Conclusion. Isolated bilateral hypoglossal nerve palsy is an extremely rare cranial nerve palsy, secondary to pyogenic meningitis. To our knowledge, this should be the first reported case of isolated bilateral hypoglossal nerve palsy due to a brainstem infarct in the background of pyogenic meningitis. PubDate: Sun, 16 Sep 2018 07:50:02 +000
Abstract: We report the case of a 51-year-old man with no significant past medical history, who underwent elective revision spinal surgery and subsequently developed intracranial hypotension, remote cerebellar haemorrhage (RCH), and mild hydrocephalus on the fourth postoperative day. Remote cerebellar haemorrhage is a known complication of supratentorial surgery. This iatrogenic phenomenon may also occur following spinal surgery, due to dural tearing and rapid cerebral spinal fluid (CSF) leakage, resulting in intracranial hypotension and cerebellar haemorrhage. This complication may result in severe permanent neurologic sequelae; hence, it is of pertinence to diagnose and manage it rapidly in order to optimise patient outcome. PubDate: Sun, 16 Sep 2018 06:48:12 +000
Abstract: Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years. Nearly 95-98% of patients are homozygous for a 90-1300 GAA repeat expansion with only 2-5% demonstrating compound heterozygosity. Compound heterozygous individuals have a repeat expansion in one allele and a point mutation/deletion/insertion in the other. Compound heterozygosity and point mutations are very rare causes of Friedreich’s ataxia and nonsense mutations are a further rarity among point mutations. We report a rare compound heterozygous Friedrich’s ataxia patient who was found to have one expanded GAA FXN allele and a nonsense point mutation in the other. We summarize the four previously published cases of nonsense mutations and compare the phenotype to that of our patient. We compared clinical information from our patient with other nonsense FXN mutations reported in the literature. This nonsense mutation, to our knowledge, has only been described once previously; interestingly the individual was also of Cuban ancestry. A comparison with previously published cases of nonsense mutations demonstrates some common clinical characteristics. PubDate: Thu, 09 Aug 2018 08:49:03 +000
Abstract: Human immunodeficiency virus- (HIV-) associated cryptococcal meningitis (CM) is one of the leading causes of deaths among patients living with HIV/AIDS in resource-limited settings, accounting for ~15-20% of AIDS-related deaths globally. We present our experience with a 25-year-old woman living with HIV who had a recurrent cryptococcal disease due to nonadherence to HIV care and lack of awareness of the benefits of adherence to secondary prophylaxis for CM. This case highlights the fact that fungal diseases awareness should not be limited only to the health professionals and public health practitioners, but also to patients, caregivers, and stakeholders. PubDate: Wed, 08 Aug 2018 07:55:53 +000
Abstract: Chronic traumatic encephalopathy (CTE) has been receiving increasing attention due to press coverage of professional football players. The devastating sequelae of CTE compel us to aim for early diagnosis and treatment. However, by current standards, CTE is challenging to diagnose. Clear clinical diagnostic criteria for CTE have not been established. Only recently, pathological diagnostic criteria have been recognized, but postmortem diagnosis is too late. Reliable biomarkers are not available. By imaging criteria, cavum septum pellucidum has been the only consistent identifiable MRI finding. Because of the imprecise nature of diagnosis based on clinical suspicion, physicians must become cognizant of the broad spectrum of presentations of CTE. With this awareness, appropriate workup can be initiated. CTE can present with early symptoms of emotional changes or late symptoms with memory decline and dementia. Here we present an unusual case of a patient with Alzheimer’s disease secondary to suspected CTE that stems from subconcussive head impacts presenting with severe memory and MRI changes. Clinicians should be aware of this presentation and consider CTE in their differential diagnoses while undergoing workup of memory disorders. PubDate: Tue, 31 Jul 2018 07:05:26 +000
Abstract: During treatment with fingolimod, B cells are redistributed from blood to secondary lymphoid organs, where they are protected from the effect of anti-CD20 and other cell-depleting therapies. We describe a multiple sclerosis patient who had almost complete depletion of B cells in blood during and shortly after treatment with fingolimod. He developed severe disease activity resembling immune reconstitution syndrome after switching from fingolimod to rituximab, with first dose being six weeks after fingolimod cessation. Following recommendations from the Swedish MS Association, rituximab treatment was started as one single dose of 1000 mg. In patients treated with fingolimod, pathogenic B cells may still be sequestered in secondary lymph nodes if this dose is given early. To deplete such B cells as they egress from the lymph nodes, we propose that a second dose of rituximab a few weeks after the first dose should be considered. PubDate: Thu, 19 Jul 2018 06:56:34 +000
Abstract: A 48-year-old man presented with 3 days of mild horizontal diplopia in the left direction, followed by the onset of headache 17 days later. A physical examination revealed isolated left abducens nerve palsy. Head computed tomography (CT) and magnetic resonance imaging (MRI) scans revealed soft-tissue density neoplasms that occupied the sphenoidal sinus and further invaded to destroy the clivus. Immunohistochemical staining of neoplasms was performed from biopsies samples. The pathological diagnosis was extranodal natural killer (NK)/T-cell lymphoma (ENKL), nasal type, associated with Epstein-Barr virus (EBV). The patient subsequently exhibited secondary symptoms (fever, night sweats), enlarged lymph nodes, renal metastases, and hemophagocytic syndrome, with clinical diagnosis stage IV of ENKL. The patient has a poor prognosis. This report is unique in two aspects: the unilateral abducens nerve palsy as the initial and isolated symptom of ENKL, and the primary sphenoidal sinus ENKL. PubDate: Mon, 09 Jul 2018 06:29:40 +000
Abstract: We herein report a rare case of a 25-year-old immunocompetent male patient with disseminated tuberculosis of central nervous system (CNS), first presenting as multiple cerebral lesions with no meningeal involvement. Subsequent diagnostic workup disclosed extensive peritoneal involvement. A broad differential diagnosis was considered, including neoplastic and infectious diseases. The diagnosis was confirmed with positive PCR result for Mycobacterium tuberculosis in the biopsied mesenteric tissue. The patient was started on tuberculostatic regimen with favorable outcome. No acquired or hereditary immunodeficiency was documented. Disseminated tuberculosis in immunocompetent individuals is extremely rare. Genetic susceptibility factors have been reported in individuals with extensive forms of the disease and a high index of suspicion is required, as observed in our case. PubDate: Mon, 09 Jul 2018 00:00:00 +000
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