多巴反应性肌张力障碍综合报告  

Comprehensive report on 3 cases with Dopa-responsive dystonia

作　　者：王文安[1] 王根发[1] 吴燕云 张玉兰 黎阳 陈环 

机构地区：[1]上海第二医科大学附属新华医院神经内科,上海200092 [2]广东省广州市孙逸仙纪念医院儿科

出　　处：《临床儿科杂志》2002年第8期486-488,共3页Journal of Clinical Pediatrics

摘　　要：对多巴反应性肌张力障碍的临床表现、诊治和预后进行分析 ,以期加强对本病的认识和重视。本组3例 ,其中男2例 ,女1例 ,2例为一家系中成员 ;发病年龄8岁～12岁 ;治疗前平均病程10年 (4年～22年 )。均表现为缓慢起病的四肢僵硬、活动困难 ,1例男性患者伴有肢体震颤、构音不清。症状均呈晨轻暮重。体检 :3例均有四肢肌张力铅管样或齿轮样增高及伸性跖反射 ,2例双下肢腱反射活跃。辅助检查如肝功能及头颅MRI无异常。应用小剂量多巴制剂治疗 ,3例患者均有明显疗效 ,2例双侧伸性跖反射消失 ,且疗效恒定 ,无明显副作用。本病是一种较为罕见的遗传性运动障碍疾病。由于小剂量多巴制剂有显著疗效 ,对于儿童期起病、表现为肌张力障碍及步态异常的一组疾病中 。To make more doctors to pay attention and acquaintance with this disease,comprehensive analysis of the clinical manifestation,management and prognosis in 3 patients with Dopa-responsive dystonia(DRD)was made.The clinical data,laboratory investigations and treatment in these 3 patients with DRD were reported in detail,of them,2 male,one female,with two from the same family.The age of the initial presentation began from 8 to 12 years and the duration of this disease lasted about 10 years on average(4～22 years).All these patients gradually developed stiffness in the limbs and had difficulty in their daily activities,in addition,one male patient had tremors and dysarthria in his extremities.All patients had diurnal fluctuation of the symptoms,with the characteristics of alleviation in the morning after sleeping and aggravation in the evening.As well as the lead-pipe or cogwheel rigidity of the limb muscles and extension plantar response:2 patients had brisk tendon reflexes of lower limbs.Laboratory examinations,such as liver function tests and brain MRI were in normal range.All the symptoms in these 3 patients were dramatically improved with the small dosage of levodopa application and bilateral extension plantar response disappeared in 2 patients.The therapeutic effect was stable without any side-effects.Do-pa-responsive dystonia is a very rare hereditary movement disorder,with characteristic of dramatic response to levodopa,and should be considered in the differential diagnosis of movement disorders with dystonia and gait abnormality in children.

关 键 词：多巴反应性肌张力障碍 肌张力障碍 左旋多巴 遗传 临床表现 诊断 治疗 预后 儿童 

分 类 号：R725.9[医药卫生—儿科]