• Yaping Zhou, Jian Zhang, Xiaoting Wang, Qian Peng, and Xiuli Shang.
• Department of Neurology, The First Hospital of China Medical University, Heping District, Shenyang, China.
• Medicine (Baltimore). 2021 Jan 29; 100 (4): e24395e24395.

IntroductionParoxysmal kinesigenic dyskinesia (PKD) is a rare neurological disease characterized by recurrent dyskinesia or choreoathetosis triggered by sudden movements. Pathogenic variants in PRRT2 are the main cause of PKD. However, only about half of clinically diagnosed PKD patients have PRRT2 mutations, indicating that additional undiscovered causative genes could be implicated. PKD associated with POLG variant has not been reported.Patient ConcernsA 14-year-old boy presented with a 2-month history of involuntary dystonic movements triggered by sudden activities. He was conscious during the attacks. Neurological examination, laboratory tests, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) were all normal. Genetic analysis showed a novel variant of POLG (c.440G>T, p.Ser147Ile), which was considered to be a likely pathogenic variant in this case.DiagnosesThe patient was diagnosed with PKD.InterventionsLow dose carbamazepine was used orally for treatment.OutcomesThe patient achieved complete resolution of symptoms without any dyskinesia during the 6-month follow up.ConclusionOur study identified the novel POLG variant (c.440G>T, p.Ser147Ile) to be a likely pathogenic variant in PKD.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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