CONCURRENT DEMYELINIZING CENTRAL NERVOUS SYSTEM INVOLVEMENT IN A CASE OF FAMILIAL MEDITERRANEAN FEVER WITH THE M694V MUTATION

Yıl 2014, Cilt: 19 Sayı: 4, 198 - 201, 23.03.2015

Adile Ozkan , Sule Kosar Ahmet Uludag , Mete Hazinedaroglu Handan İsin Ozisik Karaman

Öz

Familial Mediterranean Fever (FMF) is a hereditary disease seen mainly around the Mediterranean. The most common mutations are M694V, M680I, V726A and E148. Neurological findings and magnetic resonance imaging (MRI) abnormalities resembling multiple sclerosis have been reported in very few cases. We present a case where an M694V mutation was found together with familial Mediterranean fever and multiple sclerosis-type demyelinizing disease as this combination is rarely seen.

Anahtar Kelimeler

Familial Mediterranean Fever, M694V mutation, demyelinizing disease

Kaynakça

• Shinar Y, Livneh A, Villa Y, et al. Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients. Genes Immun 2003; 4: 197-203.
• Schwartz T, Langevitz P, Zemer D, et al. Behçet's disease in Familial Mediterranean fever: characterization of the association between the two diseases. Semin Arthritis Rheum 2000; 29: 286-295.
• Livneh A, Aksentijevich I, Langevitz P, et al. A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD). Eur J Hum Genet 2006; 9: 191-196.
• Rabinovich E, Shinar Y, Leiba M, et al. Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis. Scand J Rheumatol 2007; 36: 48-52.
• Imirzalioglu N, Dursun A, Tastan B, Soysal Y, Yakicier MC. MEFV gene is a probable susceptibility gene for Behçet's disease. Scand J Rheumatol 2005; 34: 56-58.
• Karabudak R, Dogulu CF, Nurlu G, Simsek H, Saatci I. Central nervous system demyelination in familial Mediterranean fever: is it a coincidence? Eur J Neurol 2003; 10: 327-328.