全面性癫癎伴热性惊厥附加症一家系随访分析

Follow-up of one family with generalized epilepsies with febrile seizures plus

目的 探讨全面性癫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 ,作详细的体格检查。进行脑电图、2 4h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 阵挛发作。该家系 5代共 36人 ,其中有 14名患者 ,男 8例 ,女 6例 ;患者年龄 4岁 5个月～ 82岁 ,除Ⅰ2 发作类型不详外 ,Ⅱ2 、Ⅲ1、Ⅲ4、Ⅲ6、Ⅳ1、Ⅳ11、Ⅳ17为FS ,Ⅳ2 、Ⅳ12 、Ⅳ13 、Ⅳ14 为FS+ ,Ⅴ1为FS+ 和失神发作。除Ⅳ13 、Ⅳ14 目前给予丙戊酸镁治疗外 ,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 ,具有显著的遗传异质性和表型异质性。

Objective To analyse the follow-up of one family with generalized epilepsies with febrile seizures plus (GEFS +).Methods We conducted a family with GEFS + by sexs,ages, seizure manifestation,electroencephalogram (EEG),and so on.Results There were 36 people in 5 generations of the family in all,including 14 patients(8 cases were male and 16 cases were female).Their ages were from 4 years and 5 months to 8 years.There were 8 cases febrile seizures (FS),4 cases with FS + and 1 case with FS + and absence seizures in 13 patients except 1 case without adequate knowledge.The Results of ECG indicted that 12 cases were normaland 4 cases with FS + and 1 case with absence seizures had epileptic discharges.Conclusions GEFS + is a common kind of inherited epilepsic syndrome and occur in childhood.So it is greatly important for epileptic children to know GEFS +