儿童发作性运动诱发性运动障碍临床特点及随访研究  

Clinical features and follow-up of paroxysmal kinesigenic dyskinesia in children

作　　者：邓亚仙[1] 姚春美[1] 徐娟玉[1] 高宝勤[1] 赵成松[2] Deng Yaxian;Yao Chunmei;Xu Juanyu;Gao Baoqin;Zhao Chengsong(Department of Pediatrics,Beijing Tiantan Hospital Affiliated to Capital Medical University,Beijing 100070,China;Outpatient Department,Beijing Children′s Hospital Affiliated to Capital Medical University,Beijing 100045,China)

机构地区：[1]首都医科大学附属北京天坛医院儿科,100070 [2]首都医科大学附属北京儿童医院门诊部,100045

出　　处：《中国小儿急救医学》2021年第4期321-324,共4页Chinese Pediatric Emergency Medicine

摘　　要：目的观察儿童发作性运动诱发性运动障碍(paroxysmal kinesigenic dyskinesia,PKD)的临床、基因突变特点及随访结局。方法收集2018年11月至2019年11月在首都医科大学附属北京天坛医院儿科门诊就诊的7例PKD患儿及其家系成员的临床资料。采集6例患儿及其父母外周血,采用PCR及Sanger测序方法筛查富脯氨酸跨膜蛋白2(proline-rich transmembrane protein 2,PRRT2)基因突变。结果7例PKD患儿中,男4例,女3例,起病年龄为5岁1个月~14岁2个月,中位年龄11岁6个月。2例患儿为2个PKD家系中的先证者,5例为散发。运动障碍表现为静止变为运动状态时出现运动不能启动或异常姿势,表现为肌张力不全5例,兼有肌张力不全和舞蹈2例。发作频率为每天5~15次,发作持续时间每次数秒至40 s,发作时均无意识障碍。2个PKD家系中,患儿本身PRRT2基因突变,突变来自于父亲。散发病例中,4例行基因检查,3例发现PRRT2基因突变。基因检测患儿中突变均为c.649_650insC(p.R217PfsX8)。所有患儿服用卡马西平后未再发作,随访时间为5~17个月。结论PKD患儿表现为发作性运动障碍,由运动状态改变所诱发,发作频繁,PKD家系或散发病例均可由PRRT2基因突变导致,突变c.649_650insC是该基因热点突变,小剂量卡马西平治疗效果良好。Objective To investigate the clinical features,gene mutation and follow-up outcome of children with paroxysmal kinesigenic dyskinesia(PKD).Methods Clinical data was collected at Beijing Tiantan Hospital Affiliated to Capital Medical University from November 2018 to November 2019.In total,seven children with PKD were recruited,and peripheral blood samples for gene study were collected from six patients and their parents.Mutation analysis of PRRT2 gene was performed by PCR sequencing in children and by Sanger sequencing in patients.Results Of the seven patients,four were male and three were female,and the median age of onset was 11 years and 6 months,ranging from 5 to 14 years.Among them,two patients were family cases and the other five patients were sporadic cases.The presentation were abnormal involuntary movements provoked by sudden movements,without loss of consciousness.Five patients exhibited dystonia and two patients had dystonia and choreoathetosis.The duration of the attacks lasted for a few seconds to 40 seconds.The frequency ranged from 5 to 15 times per day.PRRT2 mutations,c.649_650insC(P.R217PfsX8),were found in two patients with PKD families and three sporadic PKD cases.Conclusion The onset age of PKD is pre-school or school age.The attacks manifest as dystonia or mixed with dystonia and choreoathetosis.PRRT2 is the main pathogenic gene of PKD and mutation c.649_650insC is the hotspot mutation.Low-dose Carbamazepine has good effects.

关 键 词：运动障碍 卡马西平 富脯氨酸跨膜蛋白2基因 

分 类 号：R748[医药卫生—神经病学与精神病学]