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家族性地中海热的神经学表现:来自土耳其安纳托利亚中部城市开塞利一个参考中心的22名儿童的研究结果

Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey.

作者信息

Canpolat Mehmet, Gumus Hakan, Gunduz Zubeyde, Dusunsel Ruhan, Kumandas Sefer, Bayram Ayşe Kaçar, Yel Sibel, Poyrazoglu Hatice Gamze, Yilmaz Kenan, Doganay Selim, Yikilmaz Ali, Dundar Munis, Per Huseyin

机构信息

Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.

Division of Pediatric Nephrology and Rheumatology, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.

出版信息

Neuropediatrics. 2017 Apr;48(2):79-85. doi: 10.1055/s-0036-1593374. Epub 2016 Sep 22.

Abstract

Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by attacks of fever with polyserositis.  The purpose of this study was to evaluate pediatric patients with FMF who had central nervous system (CNS) findings.  Our medical records database for 2003 to 2014 was screened retrospectively. In total, 104 patients with FMF were identified, 22 of whom had undergone neurological examination for CNS symptoms.  Neurological findings included headache in 16 patients (72.7%), epilepsy in 6 patients (27.3%), pseudotumor cerebri in 2 patients (9.1%), tremor in 2 patients (9.1%), and multiple sclerosis in 1 patient (4.5%). The most common gene mutation was homozygous M694V (40.9%).  Patients with FMF can present with various CNS manifestations. Further studies that include large populations are needed to elucidate the neurological manifestations of FMF.

摘要

家族性地中海热(FMF)是一种遗传性炎症性疾病,其特征为发热伴多浆膜炎发作。本研究的目的是评估有中枢神经系统(CNS)表现的FMF儿科患者。我们对2003年至2014年的病历数据库进行了回顾性筛查。总共确定了104例FMF患者,其中22例因CNS症状接受了神经学检查。神经学表现包括16例患者(72.7%)出现头痛,6例患者(27.3%)出现癫痫,2例患者(9.1%)出现假性脑瘤,2例患者(9.1%)出现震颤,1例患者(4.5%)出现多发性硬化。最常见的基因突变是纯合子M694V(40.9%)。FMF患者可出现各种CNS表现。需要纳入大量人群的进一步研究来阐明FMF的神经学表现。

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