title: Brain stem infarction associated with familial Mediterranean fever and central nervous system vasculitis.
abstract: Familial Mediterranean fever (FMF) is an autoinflammatory autosomal recessive disease caused by mutations of the Mediterranean fever (MEFV) gene on chromosome 16p. Clinically, it is characterized by recurrent episodes of fever and painful polyserositis. An association of FMF with systemic vasculitis, namely Henoch-Schönlein purpura, polyarteritis nodosa and Behçet's disease has been described. Neurological manifestations of FMF occur rarely and include demyelinating (MS-like) lesions, posterior reversible encephalopathy syndrome, and pseudotumour cerebri. Hitherto hardly known, we herein present a young patient with a genetically proven FMF who suffered a brain stem infarction during a typical FMF attack. After a careful diagnostic workup including cerebrospinal fluid analysis, intra-arterial angiography and leptomeningeal biopsy, a FMF-associated central nervous system vasculitis was identified as the cause of stroke. The pathophysiological background and potential therapeutic strategies are discussed.
authors.affiliation: Department of Neurology, Goethe-University, Frankfurt am Main, Germany. sebastian.luger@kgu.de.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Luger
authors.forename: Patrick N
authors.initials: PN
authors.lastname: Harter
authors.forename: Michel
authors.initials: M
authors.lastname: Mittelbronn
authors.forename: Marlies
authors.initials: M
authors.lastname: Wagner
authors.forename: Christian
authors.initials: C
authors.lastname: Foerch
mesh_terms: D000328:Adult; D001706:Biopsy; D020526:Brain Stem Infarctions / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000276:immunology; D002533:Cerebral Angiography; D003598:Cytoskeletal Proteins / Q000235:genetics; D038524:Diffusion Magnetic Resonance Imaging; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D009154:Mutation; D010641:Phenotype; D000071198:Pyrin; D016896:Treatment Outcome; D020293:Vasculitis, Central Nervous System / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000276:immunology
chemical_list: D003598:Cytoskeletal Proteins; D007166:Immunosuppressive Agents; C000604192:MEFV protein, human; D000071198:Pyrin