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|LETTER TO EDITOR
|Year : 2015 | Volume
| Issue : 4 | Page : 621-622
Familial Mediterranean fever with convulsions: A rare association in a child
Yusuf Parvez, Sarmad Al Hamdani, Moza Al Hammadi
Department of Pediatrics, Dubai Hospital, Dubai, United Arab Emirates
|Date of Web Publication||4-Aug-2015|
Department of Pediatrics, Dubai Hospital, Dubai
United Arab Emirates
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Parvez Y, Al Hamdani S, Al Hammadi M. Familial Mediterranean fever with convulsions: A rare association in a child. Neurol India 2015;63:621-2
Familial Mediterranean fever (FMF) is an inherited disorder that usually occurs in people of Mediterranean origin - including Jews, Arabs, Italians, Armenians, and Turks. The salient features of FMF include brief recurrent episodes of peritonitis, pleuritis, and arthritis, usually with accompanying fever. Convulsions, meningitis, and other neurological manifestations have rarely been reported in children. We report a classic case to highlight this rare association.
A 5-year-old Yemeni girl, a product of consanguineous marriage, was admitted to our hospital with a second episode of generalized tonic-clonic convulsion associated with high-grade fever. There were no meningeal signs. The examination of other systems was normal. There was no family history of epilepsy or of any other significant illness. The initial laboratory investigations were normal. Electroencephalogram was done which showed abnormal epileptiform spikes bilaterally arising from the temporal lobe. The patient was started on sodium valproate and was discharged. She was admitted again after 1-week with complaints of abdominal pain and high-grade fever for 3 days. On examination, the abdomen was soft with no guarding and rigidity, and her systemic examination was unremarkable. Her investigations revealed leukocytosis with predominantly neutrophils. Her C-reactive protein was high with raised procalcitonin. Urine examination was suggestive of urinary tract infection. She was treated with broad-spectrum antibiotics. Ultrasound abdomen (kidney, ureter, and bladder) was normal with no features of pyelonephritis. The child was discharged with the course of antibiotics as she was afebrile and urine culture showed no organisms. She was readmitted after 1-month with a history of fever, cough, and abdominal pain. Her X-ray chest showed extensive bronchopneumonia. Her inflammatory markers were high including erythrocyte sedimentation rate (ESR), which was 45 mm/h. Other laboratory investigations including routine urine examination were unremarkable. She was started on broad spectrum antibiotics. She had a spiking fever with occasional mild abdominal pain while in the hospital. She was investigated for other causes of fever and recurrent abdominal pain but all the investigations, including rheumatoid arthritis factor, antidouble stranded DNA, T-spot test, virology studies, urine routine and culture, blood culture, fecal calprotectin, and repeat ultrasound abdomen were normal. Magnetic resonance imaging (MRI) abdomen was done to rule out the possibility of inflammatory bowel disease, but it was reported to be normal. She had brief episodes of generalized tonic-clonic convulsions that got aborted spontaneously. The dose of sodium valproate was increased, as its serum level was low. In view of ethnicity and also taking into consideration the symptoms of the child, a genetic study for FMF (MEFV gene) was done which showed mutations in exon 3 of MEFV gene. The patient was started on colchicine, and sodium valproate was gradually tapered. MRI brain was done to rule out any abnormality associated with FMF, but it was normal. The patient remained in the hospital for 1 month, and her fever and abdominal pain subsided. She never had convulsions after starting colchicine and was discharged with advice to come for regular follow-up in the clinic. The parents were advised for the genetic test for MEFV gene as well.
FMF, also known as Armenian disease, is an autosomal recessive inflammatory disorder caused by mutations in MEFV gene located on the short arm of chromosome 16. , FMF affects groups of people originating from around the Mediterranean Sea (hence its name). It is prominently present in the Armenians, Sephardi Jews, Ashkenazi Jews, Cypriots, Turks, and Arabs. The disorder has been given various names including recurrent polyserositis, benign paroxysmal peritonitis, Reimann periodic disease, Siegal-Cattan-Mamou disease, etc.  The patients usually present with recurrent abdominal pain, joint pain, chest pain, myalgia, and fever.  Neurological symptoms like headache, meningitis, and convulsions are rare in this disease and have rarely been reported in literature. ,, Reversible posterior leukoencephalopathy syndrome characterized clinically by headache, abnormalities of mental status and visual perception, and seizures have been reported in the existing literature. , FMF should be suspected in ethnic groups presenting with neurological symptoms, especially convulsions, as the latter are resistant to antiepileptic drugs. The diagnosis of FMF is based on clinical manifestations along with genetic testing for a mutation in the MEFV gene. , Levels of acute-phase reactants (i.e. C-reactive protein, amyloid A protein and fibrinogen) are elevated, as is the ESR. The white blood cell count is usually elevated during an attack. Metaraminol provocative test, a highly specific but less sensitive test is also helpful in diagnosing FMF.  The treatment of choice is colchicine, and the patient should be followed up to assess for the complications, especially the subsequent development of renal amyloidosis. In patients whose conditions does not respond to colchicine, the use of interferon-alpha, the tumor necrosis factor-blocking drug etanercept,  and the interleukin-1 (IL-1) receptor antagonist anakinra  may be effective. Rilonacept, a once-weekly subcutaneous injection, an IL-1 decoy receptor, has been shown, in combination with the continuation of colchicine, to reduce the number of attacks in patients who did not respond optimally. 
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