Concurrent demyelinizing central nervous system involvement in a case of Familial Mediterranean Fever with the M694V mutation

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 a 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.