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Byline: Sudhir. Kumar, Mathew. Alexander, Chandran. Gnanamuthu Background: Leprosy is one of the most common causes of peripheral neuropathy, perhaps closely matched by diabetic neuropathy. Patterns of peripheral neuropathy in [...]

Background: Autoimmune autonomic dysfunction is described in Myasthenia Gravis. In myasthenic crisis, the spectrum of autonomic dysfunction is hitherto uncharacterized. Objective: The objective of this study is to describe the spectrum of autonomic dysfunction in myasthenic crises using the composite autonomic symptom scale 31 (COMPASS 31) autonomic symptom questionnaire and power spectral analysis of heart rate variability (HRV), which is a simple way of estimating general autonomic dysfunction. Methods: Adult patients with myasthenic crisis from January 1, 2014 to March 15, 2015, were prospectively included in this study. The COMPASS 31 questionnaire for symptoms of autonomic dysfunction and power spectral analysis of HRV were assessed. These were compared with the patient's demographic and clinical parameters and with previous literature. IRB approval was obtained. Results: Sixteen patients were included (M:F 3:1). 15/16 patents (93%) had autonomic dysfunction on COMPASS 31 questionnaire. The domains of involvement were gastrointestinal (80%), orthostatic (67.7%), pupillomotor (67.7%); sudomotor (33.3%), and vasomotor (13.3%). Parasympathetic dysfunction predominance was suggested by the symptom profile. HRV analysis showed a low frequency (LF) spectral shift suggesting slowed parasympathetic responsiveness (LF normalized unit (nu): high frequency [HF] nu mean 8.35, standard deviation ± 5.4, 95% confidence interval 2.2-12.5), which significantly exceeded the mean LF nu: HF nu ratios of the majority of previously reported noncrises myasthenic populations. Conclusions: Myasthenic crisis has autonomic dysfunction involving multiple organ systems. Increased latency of parasympathetic reflexes is suggested. A comprehensive management protocol addressing different autonomic domains is required for holistic patient care. [ABSTRACT FROM AUTHOR]

Lymphomatoid granulomatosis is a rare systemic angiocentric/angiodestructive, B cell lymphoproliferative disorder. Central nervous system involvement occurs as part of systemic disease. Isolated central nervous system disease is rare with only few case reports. A 53-year-old male presented with progressive cognitive decline, extrapyramidal features, and altered sensorium with seizures over the last 4 years. His magnetic resonance imaging (MRI) of brain showed multiple small enhancing nodules in subependymal/ependymal regions and along the vessels. Brain biopsy showed atypical lymphohistiocytic infiltrate suggestive of lymphomatoid granulomatosis. There was no evidence of systemic disease; thus, isolated central nervous system lymphomatoid granulomatosis was diagnosed. [ABSTRACT FROM AUTHOR]

Spinal cord infarction (SCI) often remains undiagnosed due to infrequent occurrence and lack of established diagnostic procedures. The unique pattern of blood supply explains the heterogeneity of clinical presentation. We present three cases of SCI to highlight the varied spectrum of clinicoradiological findings. The first patient had posterior spinal artery infarction, and spine imaging showed infarction of adjacent vertebral body, which is usually rare. The second patient had anterior spinal artery infarction and the cANCA titers were elevated. The third patient had a pure motor quadriparesis. Initial imaging did not show any cord infarction, but signal changes were noted on serial imaging. Fibrocartilagenous embolism (FCE) seems the most likely etiology in the first and third cases. A high index of clinical suspicion is necessary for prompt diagnosis. Sensitivity of the initial magnetic resonance imaging remains limited, necessitating serial follow-up scans. Infarction of the adjacent vertebral body is a useful confirmatory sign. Fat suppression images can delineate the marrow signal changes better. Elderly patients with vascular risk factors and degenerative discs need to avoid mechanical triggers that predispose to FCE. Younger patients with SCI will need evaluation for cardioembolic source and vasculitis. [ABSTRACT FROM AUTHOR]

Chronic active Epstein Barr virus (EBV) infection causes a wide spectrum of manifestation, due to meningeal, parenchymal and vascular involvement. An 11-year-old boy presented with chronic headache, fever and seizures of 18 months duration. His magnetic resonance imaging Brain showed fusiform aneurysmal dilatations of arteries of both the anterior and posterior cerebral circulation. Cerebrospinal fluid (CSF) showed persistent lymphocytic pleocytosis, raised proteins and low sugar with positive polymerase chain reaction for EBV. He later developed pancytopenia due to bone marrow aplasia, with secondary infection and expired. From clinical, imaging and CSF findings, he had chronic lymphocytic meningitis with vasculopathy, which was isolated to the central nervous system. He later had marrow aplasia probably due to X-linked lymphoproliferative disorder related to EBV infection. Vasculopathy, especially diffuse fusiform aneurysmal dilatation associated with chronic EBV infection, is rare, but has been described, similar to our case report. [ABSTRACT FROM AUTHOR]

Fucosidosis is a rare lysosomal storage disorder due to deficiency of fucosidase enzyme, with around 100 cases reported worldwide. Here, we describe the clinical and imaging features in two siblings with fucosidosis. An 8-year-old girl presented with global developmental delay, followed by regression of acquired milestones from 3 years of age with bipyramidal, extrapyramidal involvement, coarse facies, telangiectatic lesions, dysostosis multiplex, characteristic magnetic resonance imaging finding along with undetectable levels of the fucosidase activity, which confirmed the diagnosis. Younger sibling has mild developmental delay with autistic traits with no neuroregression until now. He also has undetectable level of fucosidase enzyme activity and is being considered for stem cell transplantation. New case reports would expand the clinical spectrum, early diagnosis and help formulating appropriate therapy. Early diagnosis is crucial and hence sibling screening can be done, and those in the presymptomatic stage can undergo hematopoietic stem cell transplantation, which is potentially curable. [ABSTRACT FROM AUTHOR]

Congenital myasthenic syndromes (CMS) are frequently misdiagnosed due to their wide clinical heterogeneity. Molecular defects in various end-plate associated proteins are being identified. Better understanding of the molecular pathogenesis and genotype-phenotype correlations can help evolve newer therapeutic targets. We present a report of two siblings with familial limb girdle myasthenia who showed significant objective clinical improvement after initiation of terbutaline. The possible mechanism of action and utility of terbutaline in the setting of CMS are described. Terbutaline is a potential treatment option in certain subtypes of CMS refractory to conventional medicines. However, long-term follow-up is required to determine the overall efficacy and safety profile. [ABSTRACT FROM AUTHOR]

Subacute sclerosing panencephalitis (SSPE) is chronic encephalitis occurring after infection with measles virus. An 8‑year‑old boy presented with progressive behavioral changes, cognitive decline and myoclonic jerks, progressing to a bed bound state over 2 months. Magnetic resonance imaging (MRI) brain showed T2‑weighted hyperintensities in the subcortical areas of the left occipital lobe and brachium of the inferior colliculus on both sides. EEG showed bilateral, synchronous periodic discharges. Serum/cerebrospinal fluid measles IgG titer was significantly positive. The overall features were suggestive of SSPE. MRI finding of bilateral inferior colliculus changes on MRI without significant involvement of other commonly involved areas suggests an uncommon/rare imaging pattern of SSPE. [ABSTRACT FROM AUTHOR]