脑深部电刺激术治疗儿童全身型肌张力障碍的疗效分析

Outcome analysis of deep brain stimulation for pediatric generalized dystonia

目的探讨脑深部电刺激术(DBS)治疗儿童全身型肌张力障碍的可行性及疗效。方法回顾性分析2015年8月至2018年7月中国医学科学院北京协和医院神经外科采用DBS治疗的儿童全身型肌张力障碍患者的临床资料,共12例。基因检测显示5例为DYT-1型,1例为DYT-6型,6例为特发型。所有患儿术前均行头颅MRI磁敏感加权成像定位靶点。采用Burke-Fahn-Marsden肌张力障碍评分量表(BFMDRS)评估患儿的临床疗效。另纳入12例该院数据库中性别、基因型等匹配的成人全身型肌张力障碍患者。对比分析儿童与成人患者苍白球内侧部(GPi)解剖位置的差异,评估手术的可行性。结果所有患儿均成功植入电极,无手术相关并发症。术后随访12~47(19.8±9.6)个月。术后3个月、1年的BFMDRS中位数分别为15.5(10~50)、12.5(4~48)分,与术前的49.0(28~103)分比较,差异均有统计学意义(均P<0.001)。术后3个月、1年BFMDRS的改善率分别为(60.3±17.7)%(34.9%~84.6%)、(68.9±15.6)%(38.5%~93.8%)。儿童组的前联合-后联合(AC-PC)的距离为(23.0±1.1)mm(20.9~24.7 mm),成人组为(23.6±1.0)mm(22.0~25.6 mm),两组比较差异无统计学意义(P=0.121);儿童组GPi距颅骨外板的距离为(74.5±5.1)mm(65.5~82.8 mm),成人组为(77.1±3.1)mm(71.8~84.0 mm),差异有统计学意义(P=0.035);剔除儿童组年龄最小的2例患儿(4.8岁、5.7岁),>8岁的10例患儿GPi距颅骨外板的距离为(75.5±4.7)mm(70.0~82.8 mm),与成人组比较差异无统计学意义(P=0.190)。结论初步研究结果提示,DBS治疗可以改善病因明确的儿童全身型肌张力障碍患儿的临床症状,未出现严重并发症。>8岁患儿的GPi解剖位置与成人相比差异不大,但患儿长期预后和电极移位等并发症的发生率仍需进一步随访研究。

Objective To explore the feasibility and efficacy of deep brain stimulation(DBS)in the treatment of generalized dystonia in children.Methods A retrospective study was designed to investigate the clinical data of 12 children with generalized dystonia.All of them were treated with DBS at Department of Neurosurgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences from August 2015 to July 2018.Genetic etiology testing showed that 5 cases were type DYT-1,1 case was type DYT-6,and 6 cases were idiopathic generalized dystonia.All children underwent head susceptibility-weighted imaging(SWI)to locate the target before surgery.The clinical efficacy of the children was assessed using the Burke-Fahn-Marsden dystonia rating scale(BFMDRS).In addition,12 adult patients with generalized dystonia with matched gender,genotype were selected from our database.We compared and analyzed the difference in anatomy of the internal globus pallidus(GPi)between children and adults to evaluate the feasibility of operation.Results All patients were successfully implanted with electrodes without surgery-related complications.The average duration of follow-up was(19.8±9.6)months(12-47 months).The median BFMDRS scores at 3 months and 1 year after surgery were 15.5(10-50)and 12.5(4-48)respectively,which,compared with the preoperative score of 49.0(28-103),were significantly different(both P<0.001).The improvement rates of BFMDRS at 3 months and 1 year after surgery were(60.3±17.7)%(34.9%-84.6%)and(68.9±15.6)%(38.5%-93.8%).The AC(anterior commissure)-PC(posterior commissure)distance was(23.0±1.1)mm(20.9-24.7 mm)in the children group and(23.6±1.0)mm(22.0-25.6 mm)in the adults group.There was no significant difference between the 2 groups(P=0.121).The average distance between the GPi and skull was(74.5±5.1)mm(65.5-82.8 mm)in children and that in the adults group was(77.1±3.1)mm(71.8-84.0 mm).The difference was statistically significant(P=0.035).When we excluded the data from 2 youngest patients(4.8 years old and 5.7 years old),the average distance from GPi to the outer skull of the 10 patients with>8 years old was(75.5±4.7)mm(70.0-82.8 mm),which was not statistically different from that in the adults group(P=0.190).Conclusions Preliminary findings suggest that DBS could improve clinical symptoms without serious complications for the treatment of pediatric generalized dystonia with clear etiological causes.The anatomical location of the GPi in children>8 years old is not significantly different from that in adults.However,the long-term prognosis and incidence of complications such as electrode displacement still require more follow-up studies.