脑深部电刺激治疗儿童肌张力障碍

目的:总结脑深部电刺激(DBS)对肌张力障碍的治疗效果。方法:收集2017年4月至2020年7月北京大学第一医院收治的肌张力障碍患儿的临床资料和外周血DNA，完善患儿DBS术前及术后肌张力障碍评分量表运动评分，完善全外显子测序检测。结果:共收集32例运用DBS治疗的肌张力障碍患儿。其中男16例，女16例；12例采用苍白...

Deep brain stimulation for treatment of pediatric dystonia

Objective To summarize the therapeutic effect of deep brain stimulation(DBS)for dystonia.Methods Detailed clinical information and peripheral blood of children with dystonia at Peking University First Hospital from April 2017 to July 2020 were collected.The motor scores of Burke-Fahn-Marsden Dystonia Rating Scale were recorded of the dystonia before and after the treatment of DBS.Whole-exome sequencing was performed on children with dystonia.Then the effect of DBS was evaluated.Results A total of 32 cases of patients with dystonia treated with DBS were enrolled,including 16 males and 16 females.Twelve cases were treated with globus pallidus internus DBS,and 20 cases were treated with subthalamic nucleus DBS.Twenty cases(62.5%)with pathogenic gene mutations were detected.Pathogenic variants in PANK2(9 cases),KMT2B(3 cases),GNAO1(2 cases),GCDH(2 cases),PINK1(1 case),NDUFAF6(1 case),DYT27(1 case)and ADCY5(1 case)were found.The follow-up period was 1 month to 3 years and 8 months.Only 1 case had local infection due to improper home care.The postoperative improvement was 5.66%-95.92%.Conclusions All patients have a certain degree of relief after DBS without obvious adverse reactions.DBS is an effective treatment for pediatric dystonia.