[Ischemic stroke and herpes simplex virus type-1 associated meningoencephalitis]. / Accident vasculaire ischémique cérébral et méningo-encéphalite à herpès simplex 1.

The etiology of stroke in young patients is often unknown. Although systemic infections as well as specific infection agents, like herpes zoster virus or cysticercus, are often considered as risk factors, there are no indications that herpes simplex type 1 plays a role in the pathogenesis of stroke. We present the case of a young patient who suffered a stroke during a meningoencephalitis due to herpes simplex 1 and we review the relevant literature for a possible relation between the two entities.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. Mutations of DOK7 have recently been described in recessive forms of CMS. Dok-7 is a cytoplasmic post-synaptic protein co-activator of the muscle-specific receptor-tyrosine kinase (MuSK) involved in neuromuscular synaptogenesis and maintenance. We report clinical, morphological and molecular data on 15 patients with mutations in DOK7. Eleven different mutations (5 novel) were identified and all patients but one were found to carry at least the common c.1124_1127dupTGCC mutation. Patients with DOK7 mutations have a particular limb-girdle pattern, without tubular aggregates but a frequent lipidosis on the muscle biopsy. Changes in pre- and post-synaptic compartments of the neuromuscular junction were also observed in muscle biopsies: terminal axons showed defective branching which resulted in a unique terminal axon contacting en passant postsynaptic cups. Clinical features, muscle biopsy findings or response to therapy were confusing in several patients. Characterization of this distinct phenotype is essential to provide clues for targeted genetic screening and to predict the therapeutic response to anticholinesterase treatments or ephedrine as has been suggested.