口周肌阵挛伴失神癫痫的临床及脑电图特征分析

Analysis of clinical and electroencephalogram features of perioral myoclonia absences

目的 探讨口周肌阵挛伴失神癫痫(PMA)的临床、EEG特征及治疗情况,并结合文献分析,以提高对本疾病的认识。方法 对2015年5月至2022年6月天水市第三人民医院癫痫中心收治的4例PMA患者临床及EEG资料进行回顾性分析。结果 4例患者中3例为学龄期儿童,发作表现为突出的口周肌肉节律性抽动伴失神发作,并有不同程度的意识受损,持续时间数秒至数十秒,发作频繁。EEG背景活动正常,发作期EEG为广泛性对称同步2.5~3.5 Hz棘慢波发放,与口周节律性抽动存在一一对应关系,发作间期EEG为广泛性中-高波幅棘慢波短阵片断发放。4例过度换气均可诱发发作。出生史、生长发育史正常,2例有高热惊厥史,1例有癫痫家族史,头颅影像学无特异性异常,1例智力运动发育稍落后。4例患儿给予丙戊酸钠或丙戊酸钠联合拉莫三嗪、左乙拉西坦治疗,3例服药后发作消失,1例服药不规律仍有发作。结论 PMA是以口周节律性肌阵挛伴失神发作为特征的特发性全面性癫痫综合征,视频EEG联合EMG对明确诊断具有重要作用,进一步关注这一特殊现象将有助于明确此发作的临床谱系。

Objective To investigate the clinical and EEG features and treatment of perioral myoclonia absences(PMA), and to improve the perception of the diseasecombined with document analysis. Methods The clinical and EEG data of 4 patients with PMA, who were treated in the epilepsy treatment center of the Third People's Hospital of Tianshui from May 2015 to June 2022, were analyzed retrospectively. Results Of the 4 patients, 3 were school-aged children. The symptom was prominent rhythmic twitch of perioral muscle, coupled with absence seizureandvarying degrees of consciousness damage, lasting for severalto 10 s, with frequent attacks. The background activities were normally carried out. The EEG at the stage of attack was generalized symmetrical synchronous 2.5-3.5 Hz spike slow wave, which was in one-to-one correspondence with the perioral rhythmic twitch. The EEG at the interictal stagewas generalizedburst spike slow wave at medium-high amplitude. For the 4 patients, epilepsy was induced by hyperventilation. The deliveryhistory and growth and development history of the patients were normal, 2 patients had a history of febrile convulsion, 1 had a family history of epilepsy. Their skull imaging without specific exceptions. 1 patientwas slightly backward in intellectual and motor development. The 4 patients were treated with sodium valproate or sodium valproate combined with lamotrigine and levetiracetam. The absence seizure disappeared in 3 of the patients after medication. One patient still suffered from absence seizure after irregular medication. Conclusions PMA is an idiopathic generalized epilepsy syndrome characterized by perioral rhythmic myoclonia with absence. Video EEG combined with electromyography plays an important role in clarifying the diagnosis. Further attention should be paid to this special phenomenon in order to clarify the clinicallineage of absence seizure.