发作性运动诱发性运动障碍36例临床及影像学研究

目的观察发作性运动诱发性运动障碍(PKD)的临床特征及影像学改变,探讨其发病机制。方法详细观察36例PKD的临床特征,影像学和脑电图改变,并综合文献,简述其发病机制及遗传规律。结果36例均由运动诱发,呈发作性运动诱发性肌张力障碍30例,发作性运动诱发性舞蹈手足徐动症6例,发作时意识清楚,影像学有异常者4例,脑电图1例放电。抗癫痫药疗效好。结论发作性运动障碍是一种少见的运动障碍疾病,临床表现类似癫痫,可能是一种离子通道病,与基底节区功能障碍关系密切,大部分抗癫痫药物治疗有效。

Clinical and Imaging study on 36 cases of paroxysmal kinesigenic dyskinesia

Objective:To observe the clinical features and imaging changes of Paroxysmal kinesigenic dyskinesia (PKD) and to explore its pathogenesy. Methods: Clinical data,imaging and electroencephalograms(EEG) changes in 36 patients with PKD were investigated in detail together with documents to state the pathogenesy and inheritance rules briefly. Results: All the cases were PKD,among which 30 presented as paroxysmal kinesigenic dystonia (PKD) and 6 complained of paroxysmal kinesigenic choreoathetosis (PKC). All patients were alert throughout the ictuses. Abnormal imaging changes occurred in 4 cases and epileptiform discharge occurred in 1 AEEG examination. Antiepileptic drugs took effect on almost all patients. Conclusions:Paroxysmal kinesigenic dyskinesia (PKD) is a rare dyskinesia disease with clinical features similar to epilepsy. PKD is probably a kind of ion channel disease and closely related to basilar ganglia disorder. Most anti-epileptic drugs take effect.