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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具有重要的临床意义。
Objective To investigate the clinical significance of total epilepsy with febrile seizures (GEFS +). Methods A retrospective analysis of the GEFS + family of clinical seizures for detailed physical examination. EEG, 24 h dynamic EEG monitoring, some patients for head CT. Results proband IV12, convulsions frequently admitted to hospital for 3 d, 8 months after onset of febrile seizures (FS). This episode is a non-febrile and frequent tonic-clonic seizure. The family of 5 generations a total of 36 people. There are 14 patients; 8 males and 6 females; aged 4 years 5 months to 82 years, except for the type of episode I2 is unknown, Ⅱ2, Ⅲ 1, Ⅲ 4, Ⅲ 6, Ⅳ, Ⅳ, Ⅳ, , Ⅳ12, Ⅳ13, Ⅳ14 for the FS +, Ⅴ1 FS + and absence seizures. In addition to IV13, IV14 magnesium valproate present treatment, other patients have been reduced withdrawal or no medication, no seizures. Members of the whole family members are intellectually developed with normal body and nervous system tests. 3 routine skull CT examination, all normal. Conclusion GEFS + is an autosomal dominant genetic disease with significant genetic heterogeneity and phenotypic heterogeneity. Recognition of the syndrome in the diagnosis and differential diagnosis of childhood epilepsy has an important clinical significance.