癫痫伴肌阵挛-失张力发作的临床及脑电图特征分析

Clinical and electroencephalographic features of Epilepsy with Myoclonic-Atonic seizures

目的探讨癫痫伴肌阵挛-失张力发作(epilepsy with myoclonic-atonic seizures,EMAS)的临床及视频脑电图特点,以提高对该病的认识。方法对2017年12月-2018年12月吉林大学白求恩第一医院小儿神经科收治的6例EMAS患儿临床及脑电特征进行回顾性分析。结果 6例EMAS患儿中,男5例,女1例;发病前智力运动发育正常,影像学正常。发病年龄2岁2个月~6岁,确诊时间2个月~1年6个月。6例患儿至少有肌阵挛、肌阵挛-失张力、失张力发作、不典型失神发作中两种发作形式。其中4例在上述发作前或后出现强直-阵挛发作,1例在病程晚期有强直发作。6例患儿中5例背景活动正常;1例背景活动偏慢。6例患儿的脑电图在清醒期及睡眠期均出现广泛性2~4 Hz棘慢波、多棘慢波不规则或节律性发放,睡眠期放电有时类似高度失律,均无局灶性发作。所有患儿影像学检查均正常。6例患儿均给予正规抗癫痫药物治疗,其中2例治疗反应良好,4例治疗无效后给予甲基强的松龙治疗,其中3例有效缓解,1例虽然没有发作仍有大量放电。结论 EMAS好发于学龄前期儿童,癫痫发作类型主要包括肌阵挛、失张力或肌阵挛-失张力发作,但不典型失神等,脑电图主要为广泛性棘慢波、多棘慢波发放,治疗以抗癫痫药物和激素治疗为主,预后相对较好。

Objective In order to raise awareness of epilepsy with myoclonic-atonic seizures( EMAS),we explored its clinical and Video-EEG features. Methods A retrospective study on clinical and electroencephalographic( EEG) features was carried out in 6 children diagnosed as EMAS. Results In 6 cases of EMAS,there were 5 males and one female.Normally developed before seizure onset,and no abnormality was found in brain MRI. The age of onset was two years and two months to six years. The diagnostic time is two months to one year and six months. All patients at least had two generalized seizures types,including myoclonic-atonic,myoclonic,atonic,atypical absences. Within the 6 cases,4 cases had tonicclonic seizure before or after above seizures,one patient had tonic seizures later. One patient had slow background in EEG,other cases appeared normal background. The interictal EEG of 6 cases present paroxysmal generalized spike/polyspike and waves discharges in 2 ~ 4 Hz,and regular or irregular poly-spike and waves discharges. In sleep stages the epileptiform discharges showed almost hypsarrhythmia,no case had typical focal seizures. All of cases anti-epileptic drug( AEDs). Two cases were well controlled with regular antiepileptic drugs taken orally,four cases were ameliorated after additional pulse therapy of methylprednisolone. Three cases had satisfactory prognosis during follow-up period,besides one case had still frequent discharges. Conclusions EMAS predisposes to school-age childhood. EMAS had diverse generalized seizure types,including myoclonic-atonic,myoclonic,atonic,atypical absences EEG mainly showed generalized spike/polyspike and wave discharges. The majority of EMAS obtain a good prognosis by AEDs and additional hormone treatment. They had a relatively favorable progosis.