摘要
目的探讨全面性癫痫伴热性惊厥附加症（GEFS^＋）的临床意义。方法回顾性分析GEFS^＋一家系的临床发作情况，作详细体格检查。进行脑电图、24h动态脑电监测，部分患者作头颅CT检查。结果先证者Ⅳ12以抽搐频发3d入院，生后8个月开始高热惊厥（FS）。此次发作为无热性频发全面性强直一阵挛发作。该家系5代共36人。其中有14例患者；男8例，女6例；年龄4岁5个月～82岁，除Ⅰ2发作类型不详外，Ⅱ2、Ⅲ1、Ⅲ4、Ⅲ6、Ⅳ1、Ⅳ11、Ⅳ17、Ⅴ2为FS，Ⅳ2、Ⅳ12、Ⅳ13、Ⅳ14为FS^＋，Ⅴ1为FS^＋和失神发作。除Ⅳ13、Ⅳ14。目前予丙戊酸镁治疗外，其他患者已减量停药或未用药，均无发作。全家系成员智能发育、全身及神经系统检查均正常。3例行头颅CT检查，均正常。结论GEFS^＋为常染色体显性遗传性疾病，具有显著遗传异质性和表型异质性。认识该综合征对诊断和鉴别诊断儿童时期癫痫具有重要的临床意义。
Objective To investigate the clinical significance of generalized epilepsy with febrile seizures plus（GEFS＋ ）. Methods The data of one family with GEFS＋ were retrospectively analyzed by studying clinical manifestations, physical examinations, electroencephalogram（EEG）, 24 hours dynamic EEG monitoring, et al. Some of the patients were examined by CT. Results Ⅳ12, her chief complaints when admitted to hospital were frequent spasm for 3 days. She began to appear febrile seizures （FS） from 8 months after birth,and frequent generalized tonic - clonic FS appeared during that time. There were 36 people in 5 generations of the family including 14 patients （8 males and 6 females） ,aged from 4 years and 5 months to 82 years. FS presented in 8 cases （ Ⅱ2, Ⅲ1, Ⅲ4,Ⅲ6, Ⅳ1, Ⅳ11, Ⅳ17, Ⅴ2）, febrile seizures plus （FS＋ ） in 4 cases （ Ⅳ2,Ⅳ12,Ⅳ13, Ⅳ14 ）, FS ＋ and absence seizures in 1 case （ Ⅴ1 ）, uncertain type in 1 case （ Ⅰ2 ）. The results of EEG indicated that 12 cases were normal and 4 cases with FS＋ and 1 case with absence seizures had epileptic discharges. Apart form IV 13, Ⅳ14 who were treated with magnesium valproate, the dosage for the other patients decreased, or medicine terminated or without medicine, and all the patients had no recurrence of seizures. The intelligence, movement development and neurological examinations of the family were all normal. Head CT scan of 3 cases were normal. Conclusions GEFS＋ is autosomal dominant inheritance disease with conspicuous genetic heterogeneity and phenotypic heterogeneity. The apprehension of GEFS＋ plays an important role in diagnosis and differential diagnosis of epilepsy in childhood.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2006年第13期872-874,共3页
Journal of Applied Clinical Pediatrics
基金
ThisresearchsupportedbyNationalNaturalScienceFoun-dationofChina(30370507)
关键词
癫痫
全面性
热性惊厥
家系调查
遗传
generalized epilepsy
febrile seizures
family detection
heredity
