口周肌阵挛伴失神癫痫三例  

Clinical features of patients with perioral myoclonia with absences epilepsy

作　　者：李婷 贾宇 闫晓华 戚小红[1] 张礼萍[1] Li Ting;Jia Yu;Yan Xiaohua;Qi Xiaohong;Zhang Liping(Department of Pediatrics,Xuanwu Hospital,Capital Medical University,Beijing 100053,China)

机构地区：[1]首都医科大学宣武医院儿科,北京100053 [2]首都医科大学宣武医院神经内科 [3]保定市第四中心医院

出　　处：《脑与神经疾病杂志》2024年第11期722-726,共5页Journal of Brain and Nervous Diseases

基　　金：北京市医院管理中心儿科学科协同发展中心儿科专项一般项目(XTYB201810)。

摘　　要：目的分析3例口周肌阵挛伴失神(PMA)癫痫患者的临床症状、脑电图(EEG)特征及诊疗体会。方法本研究纳入2021年5月至2023年6月于首都医科大学宣武医院儿科收治3例PMA患者,收集并分析患者的临床资料,总结疾病特点。结果3例患儿,2例男童中1例女童,就诊年龄分别为5、8和12岁。临床中均以PMA为主要发作形式,其中1例(例2)以局灶性发作继发全面强直阵挛发作起病,1例(例1)以热性惊厥起病。发作期EEG为广泛性2.5~3.5Hz节律性棘慢复合波爆发。所有患儿发病后智力运动无倒退。2例(例2、例3)患儿MRI未见明显异常,1例(例1)PET-MRI提示代谢异常。1例(例2)有家族史。结合临床表现及辅助检查,均满足PMA癫痫诊断条件。治疗上予以抗发作药物(丙戊酸钠)等治疗,2例(例2、例3)患儿达到临床无发作,1例(例1)效果不佳。结论PMA癫痫以典型失神伴口周肌群的节律性抽动为临床特征,结合发作期EEG进行诊断,早期应用抗发作药物(尤其是丙戊酸钠),可有效控制发作,改善预后。Objective To analyze the clinical symptoms,electroencephalogram(EEG)and treatments of three patients with perioral myoclonia with absence(PMA)epilepsy.Methods The study included three patients with PMA who admitted to the department of Pediatrics from May 2021 to June 2023.Clinical data of all patients were collected and analyzed to summarize the characteristics of the disease.Results Among all 3 patients,two were male and one was female.The age was 5,8,and 12 years old,respectively.All the children had perioral myoclonia with absence as the main manifestation.One(case 2)started with focal seizures followed by tonic-clonic seizures,and case 1 started with febrile convulsion.EEG showed 2.5-3.5 Hz rhythmic spike-slow wave complex bursts.There was no change in mental motor activity before and after the seizures onset in all patients.One patient(case 1)suffered from abnormality on PETMRI,and the others(case 2 and case 3)showed normality.Case 2 had a family history of epilepsy.According to the patient's clinical manifestations and auxiliary examination,all satisfied the diagnosis of PMA.The patients were treated with anti-seizures medication(Sodium valproate).The frequency of seizures onset of 2 patients(case 2 and 3)reduced and achieve seizure free,yet 1 patient(case 1)still had frequent clinical onset.Conclusion PMA is a idiopathic generalized epileptic syndrome characterized by frequent typical absence and rhythmic myoclonus of perioral muscles.Ictal EEG has suggestive value in diagnosis.Early application of anti-seizure medication(especially sodium valproate)can effectively control seizures and improve prognosis.

关 键 词：口周肌阵挛伴失神 脑电图 丙戊酸钠 预后 

分 类 号：R742.1[医药卫生—神经病学与精神病学]