Brain stem infarction associated with familial Mediterranean fever and central nervous system vasculitis

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...

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Bibliographic Details
Published in:Clinical and experimental rheumatology 2013-05, Vol.31 (3 Suppl 77), p.93-95
Main Authors: Luger, Sebastian, Harter, Patrick N, Mittelbronn, Michel, Wagner, Marlies, Foerch, Christian
Format: Article
Language:English
Subjects:
Adult
Biopsy
Brain Stem Infarctions - diagnosis
Brain Stem Infarctions - drug therapy
Brain Stem Infarctions - etiology
Brain Stem Infarctions - immunology
Cerebral Angiography
Cytoskeletal Proteins - genetics
Diffusion Magnetic Resonance Imaging
Familial Mediterranean Fever - complications
Familial Mediterranean Fever - diagnosis
Familial Mediterranean Fever - drug therapy
Familial Mediterranean Fever - genetics
Familial Mediterranean Fever - immunology
Genetic Predisposition to Disease
Humans
Immunosuppressive Agents - therapeutic use
Male
Mutation
Phenotype
Pyrin
Treatment Outcome
Vasculitis, Central Nervous System - diagnosis
Vasculitis, Central Nervous System - drug therapy
Vasculitis, Central Nervous System - etiology
Vasculitis, Central Nervous System - immunology
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Description
Summary: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.
ISSN:0392-856X