发作性运动诱发性舞蹈手足徐动症  

Paroxysmal kinesigenic choreoathetosis

作　　者：李晓颖[1] 张本恕[1] 

机构地区：[1]天津医科大学总医院神经内科,天津300052

出　　处：《中风与神经疾病杂志》2007年第1期73-75,共3页Journal of Apoplexy and Nervous Diseases

摘　　要：目的探讨发作性运动诱发性舞蹈手足徐动症的发病机制、临床特征及电生理表现。方法回顾性分析18例发作性运动诱发性舞蹈手足徐动症(PKC)患者的临床资料并结合相关文献进行讨论。结果18例患者,男14例,女4例;均为青少年发病,1例有家族病史,其外祖母、母亲年青时(＜20岁)、妹妹均有类似发作史,1例25岁发病,后证实有原发性甲状旁腺功能低下。发病均由突然运动诱发,表现为一侧或双侧肢体及面部(眼肌、舌肌等)的不自主运动,多持续数秒钟自行缓解。发作中无意识障碍。发作间期无异常表现。18例患者神经系统检查均未见异常,均行头CT和(或)MRI检查,3例有影像学异常。所有患者均行脑电图(EEG)检查,其中3例有痫样放电,余正常。诊断为特发性发作性运动诱发性舞蹈手足徐动症(PKC/PKD),经服用卡马西平、丙戊酸钠等药物后发作均得到有效控制。结论PKC由突然运动诱发,表现为发作性不自主运动等锥体外系症状。可呈常染色体显性遗传,亦可散发;可为特发性,也可继发于多发性硬化、原发性甲状旁腺功能低下等疾病。部分患者EEG有痫样放电,抗癫痫药物治疗有效。提示PKC的发病机制可能与癫痫类似,但预后良好。Objective To investigate pathogenesis,clinical characteristics and electrophsiological manifestations of paroxysmal kinesigenic choreoathetosis （PKC）. Methods Retrospective analysis was performed on the clinical characteristics of 18 patients suffering from PKC durning 2004 ～ 2006 and related literatures were reviewed. Results In all 18 patients,there were thirteen males and four females. One of 18 patients had started the attack during youth with familial history. One case who got the ill in 25 years old without familial history was proved to have idiopathic hypoparathyroidsm, Another patients had started the ill during youth without familial history. The clinical manifestations were sudden onset of abnormal involuntary movements in unilateral/bilateral limb or face that last several seconds and relieved spontaneously which were induced by sudden movements. There was no impairment of consciousness during paroxysm and no discomfort between paroxysm. No abnormal signs in physical examination of nervous system were found. Abnormal imaging changes occurred in 3 cases. 3 patients showed epileptic discharges in EEG. All patients responded well to oral administration of Carbamazepine and Valproate sodium. Conclusion PKC is an autosomal dominant inheritance disease with sporadic or idiopathic occurrence. It may be occurred secondary to multiple sclerosis or idiopathic hypoparathyroidism. PKC is usually induced by sudden movement and present paroxysmal extrapyramidal symptoms. Several cases show epileptic discharges in EEG. This implies the underlying relationship of pathogenesis between PKC and epilepsy. PKC is a disease with good prognosis and is sensitive to antiepileptic drug.

关 键 词：发作性 运动诱发 舞蹈手足徐动症 肌张力障碍 卡马西平 

分 类 号：R742[医药卫生—神经病学与精神病学]