4例以癫痫性负性肌阵挛为首发或唯一发作类型的儿童癫痫临床特征

Epileptic negative myoclonus as the first or only seizure type of epilepsy in 4 children

目的探讨以癫痫性负性肌阵挛(ENM)为首发或唯一发作类型的儿童癫痫的电生理和临床特征。方法回顾分析4例以ENM为首发或唯一发作类型的癫痫患儿的脑电图和临床资料。结果4例患儿中,男3例、女1例;起病年龄(1.85±0.61)岁(1岁5个月~2岁9个月);病初智力发育正常(发育商均>90);头颅影像学无异常,血、尿遗传病筛查无异常。4例患儿均以ENM为首次发作类型,其中3例以ENM为唯一发作类型,1例ENM之后出现局灶性发作。首次视频脑电图(VEEG)背景节律无异常,发作期与发作间期均为中央-颞区(Rolandic区)棘慢波。2例患儿丙戊酸治疗3个月内发作控制(随访至今无发作)。2例治疗曲折但目前暂无发作,其中1例病程中卡马西平(CBZ)治疗加重ENM,停CBZ加氯硝西泮有效;1例治疗5个月后出现睡眠期癫痫电持续状态,甲基泼尼松龙冲击治疗有效。3例患儿末次VEEG仍存在数量不等的放电,存在不同程度的学习困难、行为障碍或多动;1例失访。结论以ENM为首发或唯一发作类型的儿童癫痫具有特定的脑电模式和相似的临床特征。

Objective To investigate the electro-clinical characteristics of epileptic negative myoclonus(ENM)as the first or only seizure type in children.Methods The EEG characteristics,clinical manifestations,treatment and outcome of 4 children with epilepsy featured by ENM as the first or only seizure type were retrospectively analyzed.Results Among 4 cases,there were 3 males and 1 female,the average age of onset was 1.85±0.61 years(1 year 5 months to 2 years 9 months old).Mental development and neuroimaging findings were normal,and blood/urine tandem mass spectrum is negative.ENM was the first seizure type in all 4 cases,of which ENM were the only type of seizure in 3 cases,and 1 case had focal seizures after ENM.EEG findings showed the EEG background rhythm was normal,the onset period and interictal period were Rolandic region spikeslow waves,the discharge mode of onset period is consistent with the interictal period.Two cases were controlled with valproate within 3 months,and other 2 cases were treated with many methods but eventually the seizures were completely controlled,in which seizure was worsened by carbamazepine treatment in one case,but controlled after stopping carbama zepine and adding clonazepam treatment.Another case was found with EEG findings of electrical status epilepticus during sleep after treatment for 5 months,the symptom was controlled by methylprednisolone treatment.Follow-up of 3 cases(1 lost follow-up)showed discharges of different quantities still existed in Rolandic region in last VEEG,and 3 cases had learning difficulties,behavioral disorders or ADHD in varied degrees.Conclusion Children with ENM as the first or the only seizure type had specific EEG patterns and similar clinical features.