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

作者：Luger S^*; Harter P N; Mittelbronn M; Wagner M; Foerch C

来源：Clinical and Experimental Rheumatology, 2013, 31(3): S93-S95.

• familial Mediterranean fever
• ischaemic stroke
• cerebral 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 characterised by recurrent episodes of fever and painful polyserositis. An association of FMF with systemic vasculitis, namely Henoch-Schonlein purpura, polyarteritis nodosa and Behcet'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.

• 出版日期2013-6