CAJ | 학술논문

目的探讨全面性癫癎伴热性惊厥附加症(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、24 h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3 d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-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Ⅰ 2发作类型不详外,Ⅱ2、Ⅲ1、Ⅲ4、Ⅲ6、Ⅳ1、Ⅳ11、Ⅳ17、Ⅴ 2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癎具有重要的临床意义.
목적 탐토전면성전간반열성량궐부가증(GEFS+)적림상의의.방법 회고성분석GEFS+일가계적림상발작정황,작상세체격검사.진행뇌전도、24 h동태뇌전감측,부분환자작두로CT검사.결과 선증자Ⅳ12,이추휵빈발3 d입원,생후8개월개시고열량궐(FS).차차발작위무열성빈발전면성강직-진련발작.해가계5대공36인.기중유14례환자;남8례,녀6례;년령4세5개월～82세,제Ⅰ 2발작류형불상외,Ⅱ2、Ⅲ1、Ⅲ4、Ⅲ6、Ⅳ1、Ⅳ11、Ⅳ17、Ⅴ 2위FS,Ⅳ2、Ⅳ12、Ⅳ13、Ⅳ14위FS+,Ⅴ1위FS+화실신발작.제Ⅳ13、Ⅳ14목전여병무산미치료외,기타환자이감량정약혹미용약,균무발작.전가계성원지능발육、전신급신경계통검사균정상.3례행두로CT검사,균정상.결론 GEFS+위상염색체현성유전성질병,구유현저유전이질성화표형이질성.인식해종합정대진단화감별진단인동시기전간구유중요적림상의의.
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 Ⅳ 12, 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 (Ⅱ 2, Ⅲ1, Ⅲ4, Ⅲ6, Ⅳ1, Ⅳ11, Ⅳ17, Ⅴ2),febrile seizures plus(FS +) in 4 cases ( Ⅳ2, Ⅳ12, Ⅳ13, Ⅳ14), ES + 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 Ⅳ13, 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.