Multiple visceral hematomas in a child with familial Mediterranean fever: question
ABSTRACT A 14-year-old girl was diagnosed with familial Mediterranean fever (FMF) with homozygous for M694V mutation of the MEFV gene and was started on colchicine therapy 4 years before admission to our hospital. She was uncompliant to therapy and was admitted to a local hospital with complaining of fever, malaise, abdominal pain and artralgia lasting for 2 months. Multiple hypoechogenic mass lesions were detected on liver and kidneys with ultrasonography (US) and diagnosed to be hematomas by laparoscopic examination. She was referred to our hospital because of development of convulsions. On physical examination her blood pressure was 140/90 mmHg and body temperature was 39 degrees C. She was pale and extremely cachectic, with atrophic muscles of the extremities. She had diffuse abdominal tenderness and hepatosplenomegaly. Laboratory investigations revealed a hemoglobin of 9.8 g/dl, white blood cell count 9,900/mm3, platelets 213,000/mm3, erythrocyte sedimentation rate (ESR) 112 mm/h, C- reactive protein (CRP) 78 mg/L (normal < 2 mg/L) and fibrinogen 500 mg/dl. Electrolytes, renal and hepatic functions and urinalysis were normal. Examinations of peripheric blood smear and bone marrow aspiration were normal. X-rays of bones and chest showed no pathological finding. Protrombine, partial thromboplastine and bleeding times were normal. Bacterial cultures of blood, urine and stool grew no organisms. Serological tests for hepatitis B and C, cytomegalovirus, salmonella and brucella were negative.
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ABSTRACT: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease, presenting with recurrent episodes of fever and polyserositis. Neurologic involvement in FMF is rare and usually considered fortuitous. The aim of this article is to review the spectrum of possible neurologic manifestations, which can be encountered in FMF patients, and to establish their relation to FMF. We reviewed the literature based on Pubmed search to find neurologic manifestations, which were reported in FMF patients. To that we added our own experience on the subject, abstracted from our computerised FMF registry of 12000 FMF patients of the National FMF Center and the computerised database of Sheba Medical Center. A wide range of neurologic manifestations involving FMF patients was noted. A large part of these manifestations could be directly related to FMF, its complications, associated diseases and treatment adverse effects. The remaining were incidental, or of uncertain association to FMF. A physician, taking care of an FMF patient, can face various neurologic manifestations and should be aware of their origin. The current chapter provides an insight to this association of FMF.Best practice & research. Clinical rheumatology 02/2012; 26(1):119-33. DOI:10.1016/j.berh.2012.01.004 · 3.06 Impact Factor