title: [An usual case of vasculo- and neuro-Behçet's disease with MEFV mutations].
abstract: A 35-year-old man had a 2-year history of uveitis and arterial wall thickening of an aortic branching artery detected by magnetic resonance imaging. He was admitted to our hospital because of mental exaltation. He had been treated with a moderate dose of prednisolone (30 mg/ml) plus methotrexate (6 mg/week) under the diagnosis of Takayasu arteritis for 2 years. Neurological examinations and brain magnetic resonance imaging taken on admission showed no abnormal findings. Although cerebrospinal fluid showed four cells/mm3 and 45 mg/dl of protein, cerebrospinal fluid interleukin-6 levels were markedly elevated (65.4 pg/mL), suggesting the neuro-Behçet's disease. The diagnosis of coexistence of vasculo- and neuro-Behçet's disease was made because vascular lesions are considered as a complication of Behçet's disease. We performed DNA testing using direct sequencing of all exons of the MEFV gene because of the patient's history of periodic fever since 30 year-old. The E148Q/L110P compound heterozygous mutation was found. His neurological symptoms and periodic fever were well controlled after the administration of infliximab (5 mg/kg every 2-month interval). Although occurrence by chance cannot be ruled out, the unusual findings of this patient suggest that MEFV mutations have some etiopathogenic mechanisms of an atypical phenotype of Behçet's disease.
authors.affiliation: Department of Rheumatology and Clinical Research Center, NHO Nagasaki Medical Center.
authors.forename: Kosuke
authors.initials: K
authors.lastname: Okabe
authors.forename: Yasumori
authors.initials: Y
authors.lastname: Izumi
authors.forename: Taiichiro
authors.initials: T
authors.lastname: Miyashita
authors.forename: Kensuke
authors.initials: K
authors.lastname: Irino
authors.forename: Chieko
authors.initials: C
authors.lastname: Kawahara
authors.forename: Yuka
authors.initials: Y
authors.lastname: Jiuchi
authors.forename: Fumiaki
authors.initials: F
authors.lastname: Nonaka
authors.forename: Katsumi
authors.initials: K
authors.lastname: Eguchi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kawakami
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Migita
mesh_terms: D000328:Adult; D001018:Aortic Diseases / Q000235:genetics*; D001528:Behcet Syndrome / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D000071198:Pyrin; D014605:Uveitis / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin