Department of Neurology, Dandong Central Hospital, Dandong City, Liaoning Province, PR China.
Department of Neurology, Peking Union Medical College Hospital, Wangfujing, Dongcheng District, Beijing, PR China.
Medicine (Baltimore). 2022 Sep 23;101(38):e30512. doi: 10.1097/MD.0000000000030512.
Myoclonic epilepsy in infancy (MEI) is a rare syndrome characterized by generalized myoclonic seizures (MS) that occur within the first 3 years of life. In the present study, the form of onset, and clinical and electroencephalogram (EEG) features were analyzed. A retrospective chart review was conducted for 16 MEI patients between March 2009 and July 2022 in Peking Union Medical College. The clinical and video EEG (VEEG) characteristics, treatment strategy, and follow-up information were analyzed. Four cases presented with afebrile generalized tonic-clonic seizures (GTCS) at the onset of MEI (GTCS at onset or atypical MEI), while 12 cases presented with MS at onset (MS at onset or typical MEI). The 24-hour VEEG revealed a generalized discharge of polyspike (or spike)-and-wave complexes that lasted for 1-3 seconds in the ictal phase. All patients were treated with valproic acid monotherapy, and none of the patients experienced seizure recurrence. Furthermore, all patients had normal psychomotor development at the end of the follow up period. Typical MEI (MS at onset) and atypical MEI (GTCS at onset) were described in the present study. These 2 groups differed in form of onset, but there were no significant differences in clinical or EEG features.
婴儿肌阵挛性癫痫（MEI）是一种罕见的综合征，其特征为在生命的头 3 年内发生全身性肌阵挛性癫痫发作（MS）。本研究分析了其发作形式、临床和脑电图（EEG）特征。回顾性分析 2009 年 3 月至 2022 年 7 月期间在北京协和医学院就诊的 16 例 MEI 患者的临床和视频脑电图（VEEG）特征、治疗策略和随访信息。4 例患者以 MEI 起病时无热全面强直阵挛发作（GTCS）（GTCS 起病或非典型 MEI），12 例患者以 MS 起病（MS 起病或典型 MEI）。24 小时 VEEG 显示发作期出现 1-3 秒的全面棘波（或棘慢波）复合波放电。所有患者均接受丙戊酸钠单药治疗，无癫痫复发。此外，所有患者在随访结束时均具有正常的精神运动发育。本研究描述了典型 MEI（MS 起病）和非典型 MEI（GTCS 起病）。这 2 组在发病形式上有所不同，但在临床或脑电图特征上没有显著差异。
