肌阵挛失张力癫痫的临床和脑电图特点

Electroclinical features of myoclonic-atonic epilepsy

目的总结肌阵挛失张力癫痫（MAE）的临床和脑电图特点。方法分析MAE患儿的临床和视频脑电图及同步肌电图资料，并对治疗效果进行随访。结果收集MAE患儿共47例，其中25例有热性惊厥史，20例有热性惊厥和（或）癫痫家族史，发病前智力运动发育均正常。起病年龄1．4～5．8岁，首次发作为无热的全面强直-阵挛发作（GTCS）41例（87．2％），肌阵挛发作4例，失张力发作2例。病程中均有多种发作类型，包括GTCS46例（97．9％）、肌阵挛失张力发作34例（72．3％）、肌阵挛发作47例（100％）、失张力发作32例（68．1％）、不典型失神36例（76．6％）和强直发作3例（6．4％）。出现多种类型的发作时脑电图背景均为弥漫性慢波或顶区为主的θ节律，发作间期呈全导1—4Hz（以2—3Hz为主）棘慢波、多棘慢波发放。所有患儿均首选抗癫痫药物（AEDs）治疗，41例（87．2％）应用AEDs发作控制，其中37例单用或合用丙戊酸，26例联合应用拉莫三嗪。10例（21．3％）发病后出现智力落后。结论MAE的临床特点包括：发病前发育正常，多数以GTCS起病，病程中具有多种全面性癫痫发作类型，肌阵挛失张力发作是其特征性发作类型；脑电图呈全导棘慢波、多棘慢波发放。早期明确诊断并合理选择AEDs是取得良好预后的关键。

Objective To summarize the electroclinical characteristics of myoclonic atonic epilepsy （MAE） in children. Method The clinical data, video electroencephalogram （EEG） and simultaneous electromyography （EMG） of MAE patients were analyzed. The treatment and its effects were followed up. Result In 47 MAE patients, 25 had a history of febrile seizures （FS） , 20 had a family history of FS or epilepsy. All patients had a normal development before the illness. The age of afebrile seizure onset was between 1.4 years to 5.8 years. The first seizure was generalized tonic-clonic seizure （GTCS） in 41 patients （87.2%）. All patients had multiple seizure types, including 47 GTCS （97.9%）, 34 myoclonic atonie seizures （72. 3% ）, 47 myoclonic seizures （100%）, 32 atonie seizures （68. 1% ）, 36 atypical absences （76. 6% ） and 3 tonic seizures （6.4%）. EEG backgrounds were slow or parietal θ rhythm, interictal EEG showed 1-4 Hz （predominant 2-3 Hz） generalized spike and wave or poly spike and wave discharges in all cases. Seizures were controlled by antiepileptic drugs （AEDs） in 41 patients （87. 2% ）. Valproate was used in 37. Lamotrigine was used in 26. Mild mental retardation was observed in 10 children after the onset of the illness. Conclusion The clinical features of MAE included the following： the development was normal before the onset of the illness; the onset of seizure type was often GTCS. All patients had multiple generalized seizure types. Myoclonic atonic seizure was its characteristic seizure type. EEG showed generalized discharges. Early diagnosis and rational choice of AEDs are important for getting a better prognosis.