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

CER6227
2013 Vol.31, N°3 ,Suppl.77
PI 0093, PF 0095
Case Reports

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PMID: 23710607 [PubMed]

Received: 30/12/2012
Accepted : 06/03/2013
In Press: 27/05/2013
Published: 09/09/2013

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.