胼胝体全段切开治疗Rett综合征患者一例

1 case of Rett syndrome treated by total corpus callosum incision

目的 了解Rett综合征(RTT)所致癫痫的临床及遗传学特点,并探讨胼胝体全段切开术治疗Rett综合征所致癫痫的有效性。方法 分析2021年广东三九脑科医院癫痫中心收治的1例RTT所致癫痫患者的临床资料并进行随访。结果 患者甲基CpG结合蛋白2 (MECP2)基因异常,头皮视频脑电图(VEEG)提示:双侧半球大量同步性棘-慢波,予实施胼胝体全段切开术后随访3个月,Engel分级Ⅱ级,患者未再出现跌倒发作,认知水平改善,且可与外界简单交流。结论 RTT临床罕见、预后极差且无治愈方法,胼胝体全段切开术对治疗RTT所致癫痫具有一定的疗效。

Objective To investigate the clinical and genetic characteristics of epilepsy caused by Rett syndrome(RTT),and to investigate the effectiveness of total callosotomy in the treatment of epilepsy caused by Rett syndrome.Methods The clinical data of 1 case of RTT induced epilepsy in the epilepsy center of Guangdong 999Brain Hospital in 2021 was analyzed and followed up.Results Patients with methyl-CPG-binding protein 2(MECP2)gene was abnormal,scalp VEEG indicated:there were a large number of synchronized spinous slow waves in both hemispheres,and the patient was followed up for 3 months after total segmental resection of corpus callosum with Engel-II.The patient did not have any more drop attack,her cognitive level was improved,and she could communicate with the outside world simply.Conclusion RTT is rare and incurable with poor prognosis.Total callotomy is effective in treating epilepsy induced by RTT.