阵发性运动障碍性疾病的临床特征与分类探讨

Paroxysmal dyskinesias: clinical features and classification

目的 总结各类阵发性运动障碍性疾病的临床特征与治疗反应 ,并对其发病机理、分类加以探讨。方法 对 12例阵发性运动障碍性疾病患儿进行了临床观察与随访 ,及录像脑电图(VEEG)、头颅CT和 (或 )MRI、铜蓝蛋白、角膜K F环和肌电图 (EMG)检查。结果 本组中 6例为阵发性运动性舞蹈手足徐动 (PKC) ,6例为阵发性肌张力不全舞蹈手足徐动 (PDC) ,无阵发性运动诱发的肌张力不全 (PED)。CT和 (或 )MRI、角膜K F环及EMG无特殊 ,3例PKC患儿EEG有样放电。PKC对抗癫药反应良好 ,PDC无有效治疗。结论 阵发性运动障碍包含了一组少见的反复发作的运动异常性疾病 ,可以分为PKC、PDC、PED、阵发性睡眠诱发运动障碍 (PHD)和其他。PKC由突发运动所诱发 ,发作频繁 ,持续时间短暂 ,抗癫药治疗效果显著 ,其发病机理可能与癫有关。PDC与运动无关 ,持续时间长短不一 。

Paroxysmal dyskinesias are a rare group of movement disorders that recur in brief episodes. Their pathogenesis is still not clear, and the classification is not unified yet. Objective To disclose the clinical features and the potential etiology of each kind of paroxysmal dyskinesia, the authors reviewed the cases who were diagnosed in the past 5 years with respect to attack characteristics, etiology and therapeutic response. Methods The clinical studies were done on 12 patients, including the clinical manifestation, the factors for inducing the attacks, duration and frequencies of episode, therapeutic response, etc. Etiologic studies included video-EEG monitoring, brain MRI/CT, serum ceruloplasmin level,electromyography (EMG), etc. A follow-up for several months to 5 years was conducted. Results Of the 12 patients, 6 (5 males, 1 female) belonged to paroxysmal kinesigenic choreoathetosis (PKC), the age of onset of the disease ranged from 5 to 12 years, the history of the disease ranged from 1 to 7 years. Six (3 males, 3 females) belonged to paroxysmal dystonic choreoathetosis (PDC), the age of onset ranged from 1 to 10 years, the history was 3 to11.5 years. The episodes of all the cases with PKC were induced by sudden movement. They lasted for 2-3 minutes, the frequency ranged from 20 times / day to 1 time/ 20 days. The episodes of PDC could occur at both movement and rest, the duration ranged from several seconds to 2 days, the frequency ranged from 10 times/ day to 1 time/ 8-9 months. The epileptic discharges were recorded by Video-EEG in 3 cases of PKC, but in none of PDC, the antiepileptic drugs were very effective in PKC but ineffectve in PDC cases. Brain MRI/CT,serum ceruloplasmin level and EMG did not show any remarkable changes in all the cases. Conclusion PKC was different from PDC with respect to that the episodes of PKC were induced by sudden movement, with higher frequency and shorter duration than PDC. There were epileptic discharge and dramatic responses to antiepileptic drugs in the cases of PKC, but not in any of PDC cases. PKC is probably associated with epilepsy in pathogenesis.