肌阵挛失神癫痫电临床特征与预后关系研究

Study on the relationship between electroclinical characteristics and prognosis of epilepsy with myoclonic absence

目的总结肌阵挛失神癫痫(epilepsy with myoclonic absence,EMA)患儿电临床特征,并分析与预后的关系。方法回顾性分析2012年1月至2022年12月在北京大学人民医院和北京大学第一医院儿科脑电监测中心监测的25例EMA患儿的临床资料,根据起病前后发育情况分为三组,分析电临床特征及与预后的关系。结果25例中,男14例、女11例,癫痫起病中位年龄48(26,74)月龄。A组16例(起病前后发育均正常组)、B组5例(起病前发育正常但起病后发育落后组)、C组4例(起病前后发育均落后组)。三组起病中位年龄分别为62(36,82)月龄、34(21,66)月龄、26(20,32)月龄,早发性起病各组分别3例、3例、4例。脑电图背景活动慢化10例,三组分别为6例、1例、3例。发作间期脑电图除1例正常外,24例均有广泛性放电,其中11例共存局灶性放电,三组中均有病例分布且区域涉及前后头部、颞区及Rolandic区。15例过度换气诱发肌阵挛失神(myoclonic absence,MA)发作,A组10例、B组4例、C组1例。最常见的伴随发作类型为肌阵挛发作(myoclonic seizure,MS),A组9例、B组3例、C组2例。三组间早发性EMA和药物难治性EMA比率差异均有统计学意义(均P<0.05)。进一步两两比较,C组患儿早发性EMA和药物难治性EMA比率均大于A组,差异均有统计学意义(均P<0.017)。三组间伴随MS比率差异无统计学意义(P>0.05)。结论EMA患儿的MA发作对过度换气敏感,常合并MS。部分患儿呈现起病年龄早和药物难治性的特点,具有发育性癫痫性脑病倾向。

Objective To summarize the electroclinical characteristics of patients with epilepsy with myoclonic absence(EMA)and analyze the relationship with prognosis.Methods Clinical data of 25 patients with EMA monitored at the pediatric EEG monitoring centers of Peking University People's Hospital and Peking University First Hospital between January 2012 and December 2022 were retrospectively analyzed and divided into three groups according to development before and after the onset of the disease to analyze the electroclinical characteristics and the relationship with prognosis.Results There were 14 males and 11 females in 25 cases,and the median age of epilepy onset was 48(26,74)months.Sixteen cases in the group with normal development before and after the onset of epilepsy(group A),5 cases in the group with normal development before the onset of epilepsy but retarded development after the onset of epilepsy(group B),and 4 cases in the group with retarded development before and after the onset of epilepsy(group C).The median age at onset was 62(36,82)months,34(21,66)months,and 26(20,32)months in the three groups,with 3,3,and 4 cases of early onset in each group,respectively.The EEG background activity slowed down in 10 cases,with 6,1 and 3 cases in the three groups,respectively.Interictal EEG was normal in 1 and abnormal in 24 cases,which showed generalized discharges,of which 11 cases showed coexisting focal discharges and generalized discharges.Among the focal discharges,there were cases in all three groups,involving the anterior-posterior,temporal and Rolandic regions.Fifteen cases had myoclonic absence(MA)induced by hyperventilation,with 10 cases in group A,4 cases in group B and 1 case in group C.The most prevalent concomitant seizure was myoclonic seizure(MS),with 9,3 and 2 cases in each group respectively.Statistically significant differences were seen in early onset and refractory EMA among the three groups(both P<0.05).In further two by two comparisons,the proportion of early onset and drug refractory cases was greater in children in group C than in group A,with statistically significant differences(both P<0.017),and the difference in concomitant MS among the three groups was not statistically significant(P>0.05).Conclusions The MA seizures in children with EMA are sensitive to hyperventilation.The common accompanying seizure is MS.Some children with EMA present with early onset and refractory epilepsy,with a tendency towards developmental epileptic encephalopathy.