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Our study reveals that autosomal recessive mutations in DES cause LGMD2 phenotype without features of myofibrillar myopathy.

Background: Combined central and peripheral nervous system demyelination is a rare and poorly described phenomenon. Recently, anti-neurofascin antibodies were reported to be positive in 86% of these patients in a Japanese cohort. Yet, there seems to be a clinical, radiological, and serological heterogeneity among these patients. In this report, our aim is to describe characteristics of our patients with this entity and compare with others in the literature. Methods: We report clinical, electrophysiological, radiological, and laboratory characteristics of five patients with both multiple sclerosis and chronic inflammatory demyelinating polyradiculoneuropathy from our institutional database containing 1890 MS patients. Results: Three patients presented with extensive, active demyelination of both central nervous system and peripheral nervous system with hypertrophic peripheral nerves. Plexuses, trunks, division and cords were involved in the process. Oligoclonal band was negative. Conduction block was not detected. Corticosteroid treatment was not adequate. Others had a slowly progressive clinical course. Serum anti-neurofascin antibody was negative. Review of the literature revealed similar cases with active disease, early-onset hypertrophic peripheral nerves, and central demyelination, in addition to other cases with an insidious course. Conclusions: Patients with combined central and peripheral demyelination form a spectrum. Some patients may have an antibodymediated syndrome with or without anti-neurofascin antibodies and others seem to represent a coincidence.RÉSUMÉ: Démyélinisation fulminante de tout le système nerveux sans anticorps anti-neurofascine. Contexte: La démyélinisation du système nerveux central et du système nerveux périphérique est un phénomène rare et mal décrit. Selon une publication récente d'une étude effectuée chez une cohorte de patients japonais, les anticorps anti-neurofascine sont positifs chez 86% de ces patients. Cependant, il semble exister une hétérogénéité clinique, radiologique et sérologique chez ces patients. Le but de cet article est de décrire les caractéristiques de nos patients présentant cette maladie et de les comparer à des patients décrits dans la littérature. Méthode: Nous rapportons les caractéristiques cliniques, électrophysiologiques, radiologiques et biochimiques de 5 patients atteints de sclérose en plaques (SP) et de polyradiculoneuropathie démyélinisante inflammatoire chronique identifiés dans notre base de données institutionnelle composée de 1890 patients atteints de SP. Résultats: Trois patients étaient atteints d'une démyélinisation active très étendue du système nerveux central et du système nerveux périphérique avec hypertrophie des nerfs périphériques. Les plexus, les troncs, les faisceaux et les branches nerveuses étaient impliqués dans le processus. La recherche de bandes oligoclonales s'est avérée négative. Aucun bloc de conduction n'a été détecté. Le traitement par corticostéroïdes ne s'est pas avéré efficace. Certains patients ont présenté ...

Background: Systemic lupus erythematosus (SLE) is one of the autoimmune diseases, which is rarely reported with Myasthenia Gravis (MG). In the literature, the clinical features of MG in these patients were not mentioned in detail. Here, we want to present our five patients with MG and SLE. Methods: Between 2000 and 2010, 132 MG patients were evaluated and have been followed up in our institution. Five patients had MG with SLE and eleven patients had antinuclear antibody (ANA) positivity without SLE symptoms. The clinical, laboratory findings and treatment responses were reviewed. Results: All patients had generalized MG and four of five patients experienced at least one myasthenic crisis. The response to corticosteroid was poor; consequently, they needed immunosuppressive treatments, IVIg or plasmapheresis. Although in the literature thymectomy was accused of the precipitation of SLE, in our series SLE symptoms preceded thymectomy. Conclusion: We would like to point out that MG and SLE being two autoimmune diseases may coexist. This coexistence might cause a more severe myasthenic course compared to MG alone; therefore, these patients need a close and frequent follow-up.

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