92例肌阵挛-失张力癫痫患儿脑电图、肌电图、遗传学特点及预后分析

Electroencephalogram,Electromyography,Genetic Characteristics and Prognosis of 92 Children with Myoclonic atonic Epilepsy

目的 分析92例肌阵挛-失张力癫痫(MAE)患儿脑电图、肌电图、遗传学特点以及治疗后预后情况。方法 回顾性分析洛阳市妇幼保健院2020年3月~2022年10月收治的92例MAE患儿的临床资料,分析患儿脑电图、肌电图、遗传学特点以及患儿接受治疗后预后情况。结果 92例患儿中37例(42.22%)脑电图背景活动大致正常,55例(59.78%)背景呈弥漫性慢波。其中92例患儿(100.00%)出现肌阵挛-失张力发作,19例患儿(20.65%)出现不典型失神发作,92例患儿(100.00%)出现肌阵挛发作,31例患儿(33.69%)出现失张力发作。92例患儿中24例(26.09%)一级亲属存在癫痫病史,15例(16.30%)二级亲属存在癫痫病史,其余患儿家属未发现癫痫病情况。92例患儿应用抗癫痫药物发作控制77例,应用促肾上腺皮质激素发作控制15例。45例患儿(48.91%)脑电图全导棘慢波于治疗1~6个月时消失,36例(39.13%)治疗3~7个月时恢复正常,11例(11.96%)遗留背景θ节律。随访发现,有认知损伤7例(7.61%)。结论 MAE发病情况复杂,以肌阵挛发作、肌阵挛-失张力发作为主要临床表现。临床诊断前可提前了解患儿家族癫痫病史,有利于癫痫辨别诊断。多数患儿及时治疗后预后情况较好,不会对脑组织产生较大损害。

Objective To analyze the electroencephalogram,electromyography,genetic characteristics and prognosis of 92 children with myoclonic-atonic epilepsy(MAE).MethodsClinical data of 92 children with MAE admitted to Luoyang Maternal and Child Health Hospital from March 2020 to October 2022 were retrospectively analyzed.Electroencephalogram,electromyography,genetic characteristics and prognosis of children after treatment were analyzed.ResultsAmong the 92 children,37 cases(42.22%)showed normal background electroencephalogram activity,and 55 cases(59.78%)showed diffuse slow wave background.Among the children,92 cases(100.00%)had myoclonic-atonic seizures,19 cases(20.65%)had atypical absence seizures,92 cases(100.00%)had myoclonic seizures and 31 cases(33.69%)had atonic seizures.Among the 92 children,24 cases(26.09%)had a history of epilepsy in first-degree relatives,15 cases(16.30%)had a history of epilepsy in second-degree relatives,and the other children had no epilepsy in family members.Antiepileptic drugs were used to control seizures in 77 cases and corticotropin was used to control seizures in 15 cases.Total conduction spinous slow wave of 45 cases(48.91%)disappeared after 1 to 6 months of treatment,36 cases(39.13%)returned to normal after 3 to 7 months of treatment,and 11 cases(11.96%)left backgroundθrhythm.Follow-up showed that 7 cases(7.61%)had cognitive impairment.ConclusionThe pathogenesis of MAE is complex,and the main clinical manifestations are myoclonic seizure and myoclonic-atonic seizure.Before clinical diagnosis,it is necessary to understand family history of epilepsy in advance,which is conducive to the identification and diagnosis of epilepsy.After timely treatment,most of the children have a good prognosis and will not cause great damage to the brain tissue.