儿童结节性硬化症合并癫痫51例临床分析

Clinical analysis of 51 children with seizure secondary to tuberous sclerosis

目的分析儿童结节性硬化症(TSC)合并癫痫患者的临床特征及治疗,以提高对该病的诊治水平,改善患儿预后。方法收集在中南大学湘雅医院诊断并随访的TSC合并癫痫患儿临床资料,并进行回顾性分析。结果 51例患儿中,49例患儿(96.1%)首次就诊原因为癫痫发作,脑电图显示发作间期痫样放电49例(96.1%)。对TSC伴痉挛发作患者氨己烯酸单用或联合治疗相比仅用抗癫痫药治疗效果有明显差异。结论癫痫发作是TSC患儿首诊的主要原因,癫痫发作控制情况影响患儿预后,应早期进行治疗干预,氨己烯酸对于TSC合并痉挛发作控制效果显著,雷帕霉素在TSC患儿治疗中有广阔前景。

Objective To analyze the clinical characteristics and treatment of children with tuberous sclerosis （TSC） complicated with epilepsy, so as to improve the level of diagnosis and treatment and improve the prognosis of children with TSC. Methods The clinical data of TSC children complicated with epilepsy diagnosed and followed up in Xiangya Hospital of Central South University were collected and ana- lyzed retrospectively. Results Of the 51 children, 49 （96. 1% ） had their first visit because of epileptic seizures. Their electroencephalogram （EEG） showed epileptiform discharges during the epileptic period. The therapeutic effect of vigabatrin on TSC patients with spastic seizures was significantly different from that of antiepileptie drugs alone or in combination. Conclusions Epileptic seizure is the most common reason for first visit and seizure control will affect the prognosis of children to a large extent. Vigabatrin had re- markable effect on TSC patients with spasm seizure, and rapamycin has broad prospects in the treatment of children with TSC.