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

Sebastian Luger*, Patrick N. Harter, Michel Mittelbronn, Marlies Wagner, Christian Foerch

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

16 Citations (Scopus)

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 characterised 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.

Original languageEnglish
Pages (from-to)S93-S95
JournalClinical and Experimental Rheumatology
Volume31
Issue numberSUPPL.77
Publication statusPublished - 2013
Externally publishedYes

Keywords

  • Cerebral vasculitis
  • Familial mediterranean fever
  • Ischaemic stroke

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