肌阵挛失神癫痫的临床及脑电图特点分析

Clinical and electroencephalography characteristics analysis of myoclonic absences epilepsy

目的探讨肌阵挛失神癫痫(myoclonic absences epilepsy,MAE)的临床表现、脑电图特点及其预后。方法收集2013年-2019年期间在哈尔滨医科大学附属第一医院就诊的14例诊断为MAE的患者的详细资料进行分析。结果14例中男患8例,女患6例。14例均有肌阵挛失神(myoclonic absences,MA)发作;具有突发突止的特点,每日发作可达数次至数十次,频繁时近百次;过度换气和闪光刺激可诱发。发作期EEG为双侧对称同步3 Hz节律性棘慢复合波放电,肌电图(EMG)均记录到与肌阵挛有锁时关系的肌电爆发。治疗主要采用丙戊酸单药或联合其他抗癫痫药。随访时年龄为5~15岁,其中8例发作控制4个月~3 y。结论MAE是一种的罕见儿童癫痫综合征,MA是其“标志性”的发作形式,MAE的诊断主要依赖于临床症状和EEG-EMG记录,早期诊断并选择正确的抗癫痫药物,有助于远期预后的改善。

Objective To investigate the clinical manifestation,electroencephalography characteristics and prognosis of myoclonic absence epilepsy(MAE).Methods Data from 14 patients diagnosed as MAE in the First Affiliated Hospital of Harbin Medical University from 2013 to 2019 were collected and analyzed.Results Among the 14 cases,8 were male and 6 were female.Of all the 14 cases,myoclonic absences(MA)was the sole or main seizure symptoms,an abrupt onset and termination,a high frequency at least several times to nearly 100 times per day.They can be elicited by hyperventilation and intermittent light stimulation.The ictal EEG shows bilateral,synchronous and symmetrical spike and wave discharges repeated at 3 Hz in strict relation with myoclonias recorded on EMG.The effective drug was valproate,or combined with other antiepileptic drugs.The ages at follow up ranged from 5 years to 15 years.Seizures were controlled for 4 months to 3 years in 8 cases.Conclusion MAE is a rare type of children with epilepsy syndrome characterized by MA.The diagnosis of MAE depends on the clinical symptoms and V-EEG findings.Early and exact diagnosis contributes to the prognosis of MAE.