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Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study

Authors Salehzadeh F, Azami A, Motezarre M, Nematdoust Haghi R, Ahmadabadi F

Received 14 November 2019

Accepted for publication 4 January 2020

Published 15 January 2020 Volume 2020:12 Pages 15—19


Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Professor Chuan-Ju Liu

Farhad Salehzadeh, 1 Ahad Azami, 2 Maryam Motezarre, 1 Roghayeh Nematdoust Haghi, 1 Farzad Ahmadabadi 1

1Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 2Internal Medicine Department, Imam Khomeini Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran

Correspondence: Farzad Ahmadabadi
Pediatric Neurology, Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran

Background and Aims: Familial Mediterranean Fever (FMF) is a periodic auto-inflammatory disease with an autosomal recessive hereditary pattern. The aim of this study is to explain the spectrum of possible neurological manifestations and its genotype-phenotype correlation in patients with familial Mediterranean fever.
Methods: In this case series study, data of 311 FMF patients at the FMF Registration Center in Iran ( was studied. Patient’s information was entered into a researcher designed questionnaire. Data were analyzed by SPSS software.
Results: The mean age of the 181 male and 130 female patients was 23.01 years, ranging from 3– 78 years old. Twelve common MEFV gene analyses were performed in 311 patients, with mutated results in 187 (60.1%) patients. The most common neurological manifestations were headache in 47.26%; 64.1% of those were persistent and 35.9% had a recurrent nature. Other neurological manifestations were vertigo (83 patients, 26.7%), paresthesia (72 patients, 23.2%), tremor (53 patients, 17%), disorientation (40 patients, 12.9%), breath-holding (23 patients, 7.4%), migraine (19 patients, 6.1%), syncope (8 patients, 2.6%), epilepsy (7 patients, 2.3%), febrile seizure (4 patients, 1%), and ataxia (5 patients, 1.6%). There were no cases of stroke or metabolic disorders among these patients.
Conclusion: The prevalence of epilepsy among FMF patients was significantly higher than the general population. FMF patients with negative results for MEFV gene mutations had significant frequency of headache, paresthesia, breath-holding, and ataxia.

Keywords: familial mediterranean fever, MEFV gene, epilepsy, migraine, headache, breathe holding, paresthesia

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