25例结节性硬化患儿氨己烯酸治疗效果分析

Vigabatrin therapy for Epilepsy in children with Tuberous Sclerosis Complex: an analysis of 25 cases in China's Mainland

目的 观察氨己烯酸(Vigabatrin,VGB)治疗对结节性硬化症(Tuberous sclerosis complex,TSC)合并癫痫的治疗效果,并对疗效等相关因素进行分析,为其在TSC合并癫痫患儿中的临床应用提供参考依据.方法 收集2013年1月-2015年10月在复旦大学附属儿科医院TSC专病门诊就诊,长期随访并使用VGB治疗癫痫的25例TSC患儿的临床资料,包括癫痫首发年龄,VGB使用年龄及用药时间和控制情况等.所有患儿均使用VGB治疗>3个月,根据Engel癫痫疗效分级对其进行疗效评价.结果 所有纳入研究对象使用VGB之前都有使用过两种或两种以上的其他抗癫痫药物,癫痫总有效控制(Engel Ⅰ级、Ⅱ级和Ⅲ级)18例(72%),其中9例(36%)完全控制无发作.7例(28%)无效患儿中,5例癫痫首发年龄<6月龄,4例为TSC1基因突变.25例患儿应用VGB后,1例出现视野损害(4%),1例出现眼部不适,1例出现散光.结论 VGB目前在国内使用较少,对常规抗癫痫药物无效的TSC患儿,有一定疗效,尤其是癫痫首发年龄>6月龄的患儿.VGB引起的视野损害在儿童中发生率相对较低,但仍然需要引起临床重视.

Objective To explore the eficiency of Vigabatrin for epilepsy in children with Tuberous Sclerosis Complex,and to further research the risk factors related to the outcome after adjunctive use of Vigabatrin.Methods 25 children with TSC and epilepsy treated with Vigabatrin at Children's Hospital of Fudan University between 2013 and 2015 were included.Clinical characteristics and the efectivencss of other antiepileptie drugs were extracted from the fllow-up data.The prevalence of visual field defect was analyzed among the cases.And correlations were made between the responses to Vigabatrin in groups.Results 25 cases,15 male(60%).18 cases had response to VGB-adjuvant therapy.Children with epilepsy onset al greater than six months of age were most likely to demonstrate a good response to VGB treatment.And the poorly response of cases showed that 4 had TSCI mutation.And among the 25 cases,one child had the visual filed defect.Conclusions Vigabatrin as adjunctive therapy showed certain effect in contolling epilepsy in TSC cases,especially infantile spasms and some partial epilepsy.But the side efect of visual filed defect should be cautious.Age-appropriate visual field testing is recommended at baseline and then repeated at intervals in patients exposed to long term Vigabatrin therapy.