Multiple sclerosis and related disorders
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Neurosarcoidosis is a rare disease with various clinical phenotypes. Thus, case reports and series broaden the understanding of this entity (Ibitoye et al., 2017). We present a case of isolated intramedullary spinal cord sarcoidosis, an exceedingly rare phenotype, which needs to be distinguished especially from neuromyelitis optica spectrum disorders (NMOSD). This report exemplifies the need for a systematic approach to diagnosis and management of spinal cord sarcoidosis.
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Mult Scler Relat Disord · Oct 2017
Multicenter StudyAnti-aquaporin-4 titer is not predictive of disease course in neuromyelitis optica spectrum disorder: A multicenter cohort study.
Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease associated with a serological antibody to aquaporin-4 (AQP4) detectable in up to 80% of patients. The enzyme-linked immunosorbent assay (ELISA) is one of the most popular methods of testing for anti-AQP4 antibodies that results with a titer in which < 3 Units/ml is negative, 3-5 is borderline and 5+ is positive. The value of the positive titer in predicting long term disease course is currently unknown. ⋯ Beyond a positive/borderline/negative result, the titer of the anti-AQP4 antibody ELISA assay is not predictive in the disease course for patients with NMOSD. Low titer patients experience the same disease course as medium-titer and high-titer anti-AQP4 antibody patients with NMOSD.
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Mult Scler Relat Disord · Oct 2017
Review Meta AnalysisVitamin B12, folate, and homocysteine levels and multiple sclerosis: A meta-analysis.
Multiple sclerosis (MS) is a demyelinating and disabling inflammatory disease of the central nervous system. Several factors contribute to MS pathogenesis including genetic-environmental interactions. Case-control studies suggest that there might be associations between MS and homocysteine (Hcy), vitamin B12, and folate blood levels. ⋯ MS patients tend to have elevated Hcy blood levels compared to healthy controls. Hcy may contribute to the pathogenesis of the disease.
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Mult Scler Relat Disord · Jul 2017
Susac Syndrome: A differential diagnosis of white matter lesions.
Susac Syndrome is an autoimmune endotheliopathy affecting capillaries and precapillary arterioles of the brain, inner ear and retina. The classic symptom triad includes visual disturbances, hypoacusia, and encephalopathy, but is rarely fully manifest at onset. The syndrome typically follows an active fluctuating monophasic course. Typical imaging findings on brain magnetic resonance show central fiber microischemias/microinfarctions of the corpus callosum known as "snow balls", as well as lineal infarcts and upper callosal fiber involvement. Fluorescein angiography and tonal audiometry are important tools to confirm diagnosis, even in patients who are asymptomatic for visual or auditory disturbances. We describe 8 patients with Susac Syndrome treated at our center and compare findings to those of other published case series. ⋯ Susac Syndrome is probably both underdiagnosed and misdiagnosed. Early and aggressive immunosuppressive treatment is indicated in order to prevent potential disabilities.
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Mult Scler Relat Disord · May 2017
ReviewTumefactive demyelinating lesions: A comprehensive review.
Tumefactive multiple sclerosis or tumefactive demyelinating lesion (TDL) is one of the rare variants of multiple sclerosis (MS) posing a diagnostic challenge and a therapeutic enigma since it is difficult to distinguish from a true central nervous system (CNS) neoplasm or other CNS lesions on magnetic resonance imaging (MRI). The prevalence of TDL is estimated to be 1-3/1000 cases of MS with an annual incidence of 0.3/100,000. This could be an underestimate due to unavailability of a global MS registry and under-reporting of this condition. ⋯ Available recently published data suggests that Fingolimod should not be used in TDL patients, mainly due to the possibility of more than just a chance association between TDLs and initiation of Fingolimod. The use of several new MS disease modifying therapy for the management of TDL remains to be studied. Further well-conducted research including multi-center trials is needed to explain several ambiguous aspects related to the etiology and management of TDL.