肌阵挛失神癫痫的临床及神经电生理学研究

Epilepsy with myoclonus-absence .A study of clinical and electroneurophysiology

目的：提高对肌阵挛失神癫痫（EMA）的认识。方法：收集2005年3月至2011年6月确诊为EMA的患儿5例，对其临床及神经电生理特征进行回顾性分析。结果：5例患儿以2岁零4个月至5岁起病，平均起病年龄4岁。3例以肌阵挛失神（MA）为唯一或主要发作形式，2例以全身强直阵挛发作（GTCS）首发，分别于1年和3年后转变为MA；临床表现为频繁的双侧节律性肌阵挛抽动。EEG＋EMG联合检查可见在EEG双侧同步的3Hz节律性棘慢波放电的同时，同步的EMG记录可见3Hz肌阵挛电活动和逐渐增强的强直性肌肉收缩电位。过度换气试验及闪光刺激均易诱发脑电一临床发作。发作间期EEG均见全导棘慢波，2例双额区尤显。治疗主要为丙戊酸钠单药或联合其他抗癫痫药物，分别随访6个月至4年，5例均有效（4例发作控制，1例仍有些许发作伴学习困难）。结论：EMA是一种以MA为主要发作类型的儿童期癫痫综合征，EMA的诊断主要依赖于临床症状观察和EEG＋EMG记录，早期准确诊断，正确选用抗癫痫药物，有助于远期预后改善。

Objective： To study the clinical and V-EEG features of epilepsy with myoclonus-absences （EMA）. Methods;The clinical and V-EEG data of five patients diagnosed as EMA in our hospital from 2005 to 2011 was retrospectively analyzed. Results：Of 5 infant patients with epilepsy, 3 cases presen- ted myoclonus-absence（MA）only or as main symptoms. 2 ases began with generalized tonic clonic seizures （GTCS）, and then switched to MA 1-3 years later,which was characterized by frequently myoclonic jerks of bilateral shoulders and upper limbs,and bilateral,synchronous and symmetrical 3 Hz spike-slow waves in EEG, 3 Hz myoclonic action and tonic muscle contraction in EMG, easily triggered by hyperventilation, while intermittent light stimulation triggered The interictal EEG showed generalized spike and wave dis- charges in all patients and focal discharges in 2 patients. The effective drug was valproated,or combined with other antiepileptic drugs. The age at follow-up ranged from 6 months to 4 years. 5 cases showed cur- ative effect,including 4 with seizure-free, 1 still in intermittent episodes with learning difficulties.. Con- clusion..EMA is a rare type of children with epilepsy syndrome characterized by myoclonus and absence seizure. The diagnosis of EMA depends on the clinical symptoms and V-EEG findings. Early and exact di- agnosis contributes the prognosis of EMA.