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目的探讨发作性运动诱发性运动障碍(paroxysmal kinesigenic dyskinesia,PKD)的临床特征,分析误诊原因并提出防范误诊措施。方法对延误诊治达7年的PKD 1例的临床资料进行回顾性分析。结果本例为20岁男性,因发作性运动障碍7年余就诊。主要表现为反复发作的突然运动诱发的面部、颈部及四肢强直、躯干扭转、手足徐动舞蹈样动作,曾先后误诊为癫痫、癔症、焦虑症,给予抗焦虑、镇静等治疗无明显效果。后经详细询问病史、家族史,结合查体及相关医技检查,确诊为PKD。予口服小剂量卡马西平后症状改善并完全缓解,随诊10个月无复发。结论PKD临床表现奇特,易误诊为癫痫、精神心理障碍等发作性疾病,及时诊治预后良好,提高对该病的认识是避免误诊的关键。
Objective To investigate the clinical features of paroxysmal kinesigenic dyskinesia (PKD) and to analyze the causes of misdiagnosis and propose preventive measures against misdiagnosis. Methods The clinical data of one case of PKD delayed for diagnosis and treatment for 7 years were analyzed retrospectively. Results This case was a 20-year-old man with more than 7 years of treatment for episodic dyskinesia. Mainly manifested as recurrent sudden movement induced facial, neck and limb rigidity, torso torsion, hand, foot and Xu act like dancing, has misdiagnosed as epilepsy, hysteria, anxiety, given anti-anxiety, sedation and other treatment no significant effect. After detailed medical history, family history, combined with physical examination and related medical examination, diagnosed as PKD. To oral low dose carbamazepine symptoms improved and completely relieved, no recurrence of 10 months follow-up. Conclusions The clinical manifestations of PKD are peculiar and easily misdiagnosed as epilepsy and psychiatric disorders. The timely diagnosis and treatment of PKD have a good prognosis. To improve the understanding of the disease is the key to avoid misdiagnosis.