肌阵挛-站立不能性癫痫临床及脑电图特征分析

Clinical and electroencephalographic features of myoclonic-astatic epilepsy

目的总结儿童肌阵挛-站立不能性癫痫(MAE)的临床、脑电图特征及治疗。方法对2006年1月至2010年10月北京大学第一医院儿科住院治疗的12例MAE患儿临床表现、脑电图特征及治疗效果、预后进行分析。结果 12例中男11例,女1例;发病年龄1岁3个月至3岁9个月,平均(32.3±9.9)个月。其中5例有热性惊厥或癫痫家族史。所有患儿在发病前智力运动发育正常,颅脑磁共振成像(MRI)未见器质性病变,发病后出现多种全面性癫痫发作形式,包括强直-阵挛、肌阵挛、失张力、肌阵挛-失张力、不典型失神、强直发作。12例患儿均有肌阵挛-失张力及不典型失神发作。6例病程中曾有非惊厥性癫痫持续状态(NCSE)。发作间期脑电图呈慢波背景,广泛性棘慢波或多棘慢波。丙戊酸(VPA)单药或联合其他抗癫痫药如拉莫三嗪(LTG)对部分患儿有效,促肾上腺皮质激素(ACTH)可能有效。随访1个月至4年7个月,7例发作已控制1个月至3年,5例仍有发作;起病后智力正常7例,精神发育迟滞5例。结论 MAE是一种特发性全面性癫痫综合征,多在5岁前起病。肌阵挛-失张力为其特征性发作形式,病程中常出现NCSE。临床表现结合发作期脑电图及同步肌电图可明确诊断。VPA单药或联合其他抗癫痫药如LTG、ACTH对部分患儿有效。MAE预后差异大。

Objective To investigate the clinical and electroencephalographic characteristics and treatment of myoclonic-astatic epilepsy （MAE）. Methods Twelve MAE cases who were diagnosed during 2006--2010 in Peking University First Hospital were enrolled in this study. The clinical and electroencephalographic （EEG） characteristics, treatment and prognoses of MAE were analyzed. Results Among 12 cases, eleven were male and only one was female. Five of them had family history of febrile convulsion or epilepsy. Age at presentation ranged from 15 to 45 months （average 32.3 months ）.All the patients showed normal development before the onset of epilepsy and no abnormality was found in brain MRI.All the MAE patients had multiple generalized seizure types including tonic-clonic, myoclonic-astatie, myoclonic, atonic, atypical absence and tonic seizures. Myoclonic-astatic and atypical absence seizures were present in all cases.Six patients had a history of non-convulsive status epilepticus.The interietal EEG showed diffused slow wave background in lO cases, and generalized spike and wave discharges （no focal discharges） in all patients.Valproate was the common drug choice which was often combined with other antiepileptic drugs.ACTH may be effective.The time of follow-up ranged from 1 month to 4 years and 7 months.Seizures were controlled from 1 months to 3 years in 7 cases and not completly controlled in 5 cases.Seven patients showed normal intelligence and five showed mental retardation after onset. Conclusion MAE is one of idiopathic generalized epileptic syndrome in childhood characterized by myoclonic-astatic seizure.NCSE often occurred in MAE.Clinical observation, ictal video-EEG and electromyography （EMG） are essential to the diagnosis of MAE.Valproate alone or combined with other antiepileptic drugs such as lamotrigine could have a favorable effect on MAE.The prognosis of MAE is various.