Department of Neurology, Goethe-University, Frankfurt am Main, Germany.
Clin Exp Rheumatol. 2013 May-Jun;31(3 Suppl 77):93-5. Epub 2013 May 27.
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.
家族性地中海热（FMF）是一种常染色体隐性遗传性自身炎症性疾病，由位于 16p 染色体上的地中海热（MEFV）基因突变引起。临床上，其特征是反复发作的发热和疼痛性多浆膜炎。FMF 与全身血管炎，即过敏性紫癜、结节性多动脉炎和贝赫切特病相关已有描述。FMF 的神经系统表现罕见，包括脱髓鞘病变（类似 MS）、可逆性后部脑病综合征和假性脑瘤。我们在此介绍一位年轻的患者，他患有经基因证实的 FMF，在一次典型的 FMF 发作期间发生了脑干梗死。经过仔细的诊断评估，包括脑脊液分析、动脉内血管造影和软脑膜活检，确定 FMF 相关的中枢神经系统血管炎是中风的原因。讨论了其病理生理背景和潜在的治疗策略。
