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

Clin Exp Rheumatol. 2013 May-Jun;31(3 Suppl 77):93-5. Epub 2013 May 27.

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.

Publication types

  • Case Reports

MeSH terms

  • 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

Substances

  • Cytoskeletal Proteins
  • Immunosuppressive Agents
  • MEFV protein, human
  • Pyrin