儿童结节性硬化症伴癫痫发作71例临床分析  

Clinical analysis of 71 children of tuberous sclerosis complex with epilepsy

作　　者：赵青青 韩蕴丽[2] 阮毅燕[1] 冯军坛[1] 陈殷[1] 陈瑜毅[1] 王金秋[1] 黄雪林 ZHAO Qingqing;HAN Yunli;RUAN Yiyan;FENG Juntan;CHEN Yin;CHEN Yuyi;WANG Jinqiu;HUANG Xuelin(Department of Pediatric Neurology,the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Guangxi Zhuang Autonomous Region,Nanning530000,China;Department of Pediatrics,the First Affiliated Hospital of Guangxi Medical University,Guangxi Zhuang Autonomous Region,Nanning530000,China)

机构地区：[1]广西壮族自治区妇幼保健院儿童神经内科,广西南宁530000 [2]广西医科大学第一附属医院儿科,广西南宁530000

出　　处：《中国医药导报》2020年第20期107-110,共4页China Medical Herald

基　　金：广西科技计划项目(桂科AB17195011);广西壮族自治区自筹经费课题(Z20170781)。

摘　　要：目的分析71例儿童结节性硬化症(TSC)伴癫痫发作的临床资料,总结临床特点,提高对疾病的认识。方法收集2012年6月~2018年12月广西医科大学第一附属医院、广西壮族自治区妇幼保健院收治的TSC伴癫痫发作的患儿临床资料,对其临床表现、辅助检查、治疗转归等进行回顾分析。结果癫痫发病年龄为生后1 d^13岁。癫痫起病形式:局灶性发作26例(36.62%),全身强直阵挛发作15例(21.13%),全身强直发作11例(15.49%),痉挛发作18例(25.35%),失神发作1例(1.41%)。66例(92.96%)合并皮肤损害,43例(60.56%)智力低下,71例(100%)头颅影像学检查异常,66例(92.96%)脑电图检查异常。19例基因检查阳性,1例阴性。71例患儿均服用抗癫痫药物(AEDs),治疗总有效率为85.91%。结论TSC伴癫痫发作患儿,1岁以内发病多见,常合并皮肤损害和智力低下,且累及多系统。癫痫发作大多难以控制,需多种AEDs联合治疗。Objective To analyze the clinical data of 71 cases of tuberous sclerosis complex(TSC)with epilepsy,to summarize the clinical characteristics,and to improve the awareness of the disease.Methods Form June 2012 to December 2018,71 cases of TSC with epilepsy who admitted to the First Affiliated Hospital of Guangxi Medical University and the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region were selected.Clinical feature,auxiliary examination,treatment outcome were retrospectively analyzed.Results The age of epilepsy onset was ranged from 1 d after birth to 13 years old.The onset forms of epilepsy:focal seizure was 26 cases(36.62%),generalized tonic-clonic seizure was 15 cases(21.13%),generalized convulsions seizure was 11 cases(15.49%),convulsive seizure was 18 cases(25.35%),and absence seizure was 1 case(1.41%).Sixty-six cases(92.96%)were complicated with skin lesions,43 cases(60.56%)had low intelligence,71 cases(100%)had abnormal head imaging examination,and 66 cases(92.96%)had abnormal electroencephalogram examination.Nineteen cases gene detetion were positive,1 case was negative.All the 71 cases were treated with antiepileptic drugs(AEDs),and the total effective rate was 85.91%.Conclusion TSC with epilepsy is more common in children under 1 year old.They often associate with skin lesions and mental retardation,and involve multiple systems.Most epileptic seizures are difficult to control,need a variety of AEDs combined treatment.

关 键 词：儿童 结节性硬化症 癫痫 临床特点 治疗 

分 类 号：R725.9[医药卫生—儿科]