Agrawal Mukund, Chaurasia Rameshwar N, Kumar Anand, Pathak Abhishek, Singh Varun K
Department of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, IND.
Cureus. 2023 Jul 17;15(7):e42037. doi: 10.7759/cureus.42037. eCollection 2023 Jul.
Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent attacks of abnormal involuntary movements that are triggered by sudden movement, intention to move, or acceleration. A 10-year-old boy presented with paroxysmal, involuntary twisting movements of the left upper and lower limbs, precipitated by sudden body movements, lasting for 10-15 seconds and subsiding spontaneously. On examination, choreiform movements were observed, which were precipitated by sudden movements during some activities. The patient responded to carbamazepine with complete subsidence of the movements. The diagnosis of PKD was further confirmed by genetic testing. A high suspicion index helps in the prompt and early diagnosis of this rare entity.
发作性运动诱发性运动障碍（PKD）的特征是反复出现异常的不自主运动发作，这些发作由突然运动、运动意图或加速引发。一名10岁男孩出现阵发性左上肢和下肢不自主扭转运动，由突然的身体运动诱发，持续10 - 15秒后自行缓解。检查时，观察到舞蹈样运动，在某些活动中由突然运动诱发。患者对卡马西平有反应，运动完全缓解。基因检测进一步证实了PKD的诊断。高度的怀疑指数有助于对这种罕见疾病进行快速早期诊断。
