以对应于中线放电的癫痫性负性肌阵挛起病的儿童癫痫电临床特点

Electroclinical characteristics of epilepsy children with midline epileptiform discharges related epileptic negative myoclonus as the first symptom

目的探讨以局限于下肢的癫痫性负性肌阵挛(ENM)起病癫痫患儿的电临床特征.方法以"中线"为检索词检索2011年3月至2018年3月北京大学第一医院儿科脑电图数据库,筛选出符合发作间期"良性"或"功能性"中线区棘波标准的175例患儿的302份脑电图记录.回顾患儿病历资料,进而筛选出以局限于下肢ENM起病的13例患儿,对其临床及脑电图特征进行总结分析.结果13例患儿以局限于下肢的ENM为首发类型,诊断为儿童良性局灶性癫痫伴颅顶(中线)区棘波(BEVS).6例在病程中未观察到其他发作类型,诊断为BEVS,其中男1例、女5例,起病年龄为(2.5±0.7)岁,其中1例于4岁8月龄时脑电图演变为睡眠中癫痫性电持续状态(ESES),末次随访年龄为(3.8±1.5)岁.7例病程中出现睡眠中局灶运动性发作,男4例、女3例,起病年龄为(3.5±0.7)岁,其中2例诊断为BEVS演变为儿童良性局灶性癫痫伴中央颞区棘波(BECTS),5例BEVS与BECTS并存;局灶性发作出现的年龄为(4.1±0.6)岁,间隔时间为1个月~1年;7例中6例出现ESES,出现年龄为(5.2±1.0)岁,且均伴有智力、运动发育倒退进而诊断为不典型良性部分性癫痫(ABPE),末次随访中位年龄为5.9岁.13例患儿中5例多次复查脑电图,显示随着局限于下肢ENM症状改善,发作间期中线区放电频率及波幅均明显降低,且在出现睡眠中局灶性发作后脑电图显示与中线区癫痫样放电不同步的Rolandic区放电.结论局限于下肢的ENM与颅顶(中线)区棘波密切相关,以局限于下肢的ENM起病为BEVS综合征中的一种特殊现象.部分患儿可演变为BECTS或与BECTS共存,也可进一步发展为ABPE.以局限于下肢ENM起病的BEVS患儿起病年龄常早于BECTS,忽视局限于下肢ENM与中线区放电的密切关系可导致该组患儿的漏诊或误诊.

Objective To investigate the electroclinical findings in epilepsy children with epileptic negative myoclonus(ENM)restricted to the lower limb as the first seizure type.Methods Each retrieved electroencephalogram record performed between March 2011 and March 2018 at the Department of Pediatrics of Peking University First Hospital was searched with"midline".There were 302 records of 175 patients with"benign"or"functional"midline spikes.A retrospective review of each patient's hospital record was performed.Thirteen patients had ENM restricted to the lower limb as the first seizure type.The clinical and electroencephalogram characteristics of them were analyzed.Results Thirteen patients manifested ENM restricted to the lower limb as the first seizure type,diagnosed as benign childhood focal epilepsy with vertex spikes(BEVS).Six patients had ENM as the first and only seizure type during the short?time follow?up.Among them,there were 1 male and 5 females.The age at seizure onset was(2.5±0.7)years.One of them had electrical status epilepticus during sleep(ESES)identified on electroencephalogram at theage of 4 years and 8 months.The last follow?up age was(3.8±1.5)years.The remaining 7 patients developed nocturnal focal motor seizures.Among them,there were 4 males and 3 females.The age at seizure onset was(3.5±0.7)years.Two of them were diagnosed as BEVS evolving into benign childhood epilepsy with centrotemporal spikes(BECTS)and 5 were diagnosed as BEVS concurring with BECTS.The age at focal seizures was(4.1±0.6)years.The interval ranged from 1 month to 1 years.Six of 7 patients had electrical ESES with the age of(5.2±1.0)years.All had developmental regression,further diagnosed as atypical benign partial epilepsy(ABPE).The median age at last follow?up was 5.9 years.Five of 13 patients had repeated electroencephalogram records at our apartment,showing that epileptiform discharges in midline regions were significantly reduced either in frequency or amplitude with the improvement of ENM restricted to the lower limb and that independent epileptiform discharges in Rolandic regions from midline regions were noticed with the onset of nocturnal focal seizures.Conclusions ENM restricted to the lower limb has a close association with vertex(midline)epileptiform discharges.ENM restricted to the lower limb as the first seizure type is a peculiar phenomenon of BEVS.Some patients could evolve into BECTS or overlap with BECTS,and further into ABPE.The age of seizure onset in BEVS with ENM restricted to the lower limb as the first symptom is a little earlier than in BECTS.Ignorance of the close association between midline spikes and ENM restricted to the lower limb may lead to misdiagnosis of these patients.