阵发性运动源性舞蹈手足徐动症的临床分析

Clinical features and treatment of paroxysmal kinesigenic choreoathetosis

目的 探讨阵发性运动源性舞蹈手足徐动症的临床特征、诊断和治疗。方法 观察 15例PKC病人的临床表现 (2例做了录像 ) ,进行EEG、CT、MR等辅助检查 ,均用卡马西平治疗并观察其转归。结果 本组 15例中 ,男 13例、女 2例 (男∶女 =6.5∶1) ,发病年龄 8～ 2 2岁 ,平均 11.4岁。生活环境及家族史 :本组 13例病人主要分布在中国东北部地区 (13 /15 ) ,14例无家族史 ,1例有家族史。临床突出表现为发作性一侧肢体的肌张力障碍和异动症 ,多数持续 10～ 3 0s(一般 <5min) ,每天发作 4～ 3 0次。均有明显的诱发因素 :紧张时或突发运动 (要跑步和突然站立 )时容易发作。头颅MR、CT、EEG、2 4小时EEG、视频EEG、肌电图 (EMG)等辅助检查均无异常发现。小剂量卡马西平可使症状完全消失 ,0 .0 5～ 0 .1g/d维持治疗 ,10例随访 1～ 1 5年无发作。结论 PKC是以运动诱发的表现为舞蹈样手足徐动症等肌张力障碍为特征的良性疾病 ,有异于癔病和神经症的发作特征 ,卡马西平能有效控制其发作。

Objective Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by short paroxysms of focal or generalized involuntary movement induced by sudden movements. We aimed to clarify the clinical features and treatment of PKC. Methods We analyzed the clinical featured of 15 patients with PKC from Beijing Neurology Consultation Center(9 patients) and clinic of Neurology Xuanwu Hospital(6 patients). There were 10 patients with 1 to 1.5 years follow-up period. EEG,CTscan, MR and blood for biochemistry were done in all patients. The videotape recordings of PKC attacks in 2 patients were used for analysis. Results There were 13 men and 2 women(male∶female=6.5∶1). The age at onset of the condition ranged from 8 to 22 years (mean, 11.4 years). One patient (6.7%) had a family history of the condition and the mode of inheritance followed an autosomal dominant pattern. Most of our patients came from the north-eastern area of China. The involuntary movements appeared to be dystonic rather than choreoathetonic if the attack was mild, and the paroxysms were provoked by sudden movements. The attacks occurred on one or both sides, and often affected limbs, face and trunk without clouding of consciousness. Their duration was usually 10 to 30 seconds, and never more than 5 minutes. All laboratory tests including electroencephalographic and neuroimaging studies showed no abnormality. All patients responded well to carbamazipine(CBZ).In addition, low doses of CBZ were used for 10 patients and it was able to control the attack for up to the end of the follow-up period of 1 to 1.5 years. Conclusions Our findings indicate that the sporadic and familiar forms of PKD are similar in terms of clinical manifestations and responses to CBZ. The functional status and prognosis of patients suggest that PKD is a relatively benign entity.