全面性癫痫伴热性惊厥附加症两家系临床分析  

Clinical analysis of two families with generalized epilepsy with febrile seizures plus.

作　　者：曾峰[1] 刘木根[2] 朱传卫[3] 王峻[4] 柯欢[1] 

机构地区：[1]安徽省宣城中心医院儿科,宣城242000 [2]华中科技大学生命科学与技术学院人类基因组研究中心 [3]安徽省宣城中心医院检验科,宣城242000 [4]安徽省宣城中心医院脑电图室,宣城242000

出　　处：《中华妇幼临床医学杂志（电子版）》2007年第2期74-76,共3页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

摘　　要：目的探讨全面性癫痫伴热性惊厥附加症(GEFS+)的临床特点。方法通过诊断收集2个GEFS+家系,并对受累者全面检查,建立了全面的家系谱和该病详细的临床资料。结合其临床资料和国内外文献对该病进行了分析、总结。结果本组2个家系共有53位成员,其中受累者11例,男性7例,女性4例,患者年龄为10个月至39岁,起病年龄为6个月至5岁,具有广泛的临床发作谱。受累者中,FS6例,FS+2例,FS+伴失神发作1例,FS+伴失张力发作2例。所有脑电图异常者均呈现全面性癫痫样放电。其中,5例患者目前给予抗癫痫药治疗,症状控制良好。本组所有受累者神经系统检查以及头颅CT或MRI检查正常。结论GEFS+是一种儿童时期常见的呈现常染色体显性遗传方式的癫痫综合征。其临床发作以FS和FS+为主要表型,并且在FS+的基础上多合并全面性癫痫发作。家族史调查是诊断该病的关键。Objective To analyze the clinical characteristics of two families with generalized epilepsy with febrile seizures plus （GEFS^＋）. Methods Through collection and diagnosis of two GEFS^＋ families, the comprehensive pedigree and detailed clinical data were established. Its clinical data and relational references were analyzed by authors. Results There are 53 people in the two families in all, including 11 patients （7 male and 4 female）. The patients＇ ages were from 10 months to 39 years, with onset ages from 6 months to 5 years. There are a broad spectrum of clinical phenotypes, such as febrile seizure（FS）in 6 eases, FS^＋ in 2 cases, FS^＋ and absence seizure in 1 case, FS^＋ and atonic seizure in 2 affected persons. The attacks of 5 cases were well controlled by antiepileptic drugs. Nervous system examination and CT（or MRI） scans of all affected didn＇t detect any positive result. Conclusion GEFS^＋, which often occurs in childhood, is a kind of autosomal dominant genetic epileptic syndrome. FS and FS^＋ are its major clinical phenotypes. Generalized epilepsy seizure is mostly simultaneous in the FS^＋ patients. Family history investigation will be great help to its diagnosis.

关 键 词：全面性癫痫伴热性惊厥附加症 家系调查 遗传 

分 类 号：R742.1[医药卫生—神经病学与精神病学]