A case with multiple sclerosis and familial Mediterranean fever.
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A 35 year-old male with history of FMF admitted to our clinic for headache, dizziness, visual disturbance, left-sided body numbness and imbalance for 20 days. He initially developed light dizziness, left-sided face numbness and left-sided tongue burning sensation. In the past medical history, he has been diagnosed with FMF for 23 years and treated with colchine 1.5 mg/day for FMF. The physical examinations were within normal limit. On neurological examination, his mental status and higher cortical functions were normal. Nuchal rigidity, Kernig sign, and Brudzinski sign were absent. The pupils were normal in size and reactive to light. Visual acuity was 0.6 on the right eye and normal on the left eye. Extra-ocular eye movements were intact. Funduscopic examination was normal. Her muscle strength, tone, and bulk were normal. Deep tendon reflexes were symmetrical and brisk and there were no pathologic reflexes such as Babinski signs. Sensory examination showed decreased sensation on the left side of the face and decreased vibration and proprioception sensation on the left-sided body. The cerebellar examination revealed dysmetria and dysdiadochokinesia on the left upper extremity and abnormal heel to shin test on the left lower extremity. Tandem walk test was abnormal and Romberg sign was positive. Laboratory work-up including cell blood count, comprehensive metabolic panel, C-reactive protein, erythrocyte sedimentation rate, fibrinogen, rheumatoid factor, free thyroid hormone 3 and 4, thyroid stimulation hormone, vitamin B 12, vasculitis panel, thrombosis panel, and urinalysis were within normal limit. Anti-HIV, hepatitis panel, and Borrelia burgdorferi IgM were negative. The magnetic resonance imaging (MRI) of brain showed a hyperintense, heterogeneously enhancing lesion with around 13 mm in diameter at the level of left brachium pontis (Fig. 1), and multiple disseminated T2 hyperintense lesions at the cerebral white mater and corpus callosum. The MRI of cervical spine was unremarkable. Visual evoked potential and tibial and median sensory evoked potential tests were normal. Visual field test showed bilateral enlargement of blind spots, and decreased sensitivity of peripheral visions. Schirmer test was negative. The genetic test for FMF showed compound heterozygous for M694V/V726A mutations. Oligoclonal band was negative. He initially received high-dose (lgr/day) intravenous steroid treatment during hospitalization; then was discharged with oral steroid that be tapered gradually. FMF is an autosomal recessive disorder characterized by recurrent episodes of fever and serositis or synovitis. The FMF related gene, called MEFV, was first found via cloning in 1997 (6, 11). After analysis of FMF chromosomes gathering from Armenian, Turkish, Jewish and Arabic patients, five different mutations including V726A, M694V, M694I, M680I, and E148Q were detected in 74% of the patients (8, 11). Although FMF is a multisystem disorder, the coexistence of CNS involvement is not very clear. The cooccurrence of aseptic meningitis, pseudotumor cerebri, and nonspecific electroencephalography (EEG) findings during fever attack and FMF has been reported (1,4). Few cases having both MS and FMF have been reported from Turkey (7, 12). In Karabudak et al retrospective study involving 17 FMF cases, no CNS involvement was detected (2). In Akman et al retrospective study, from among 2800 patients with inflammatory and demyelinated CNS disorders, 12 FMF cases were detected (1). They postulated that the occurrence of FMF would be 4 times higher in MS patients than normal population (1). Few cases indicating the coexistence of MS and FMF were reported as well (7, 10, 12). MS and FMF have some similarities. Both of them demonstrate inflammatory reactions (12). …