Paroxysmal Kinesigenic Dyskinesia in a Child with Positive Family History: A Case Report

Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder characterized by brief, recurrent episodes of involuntary movements triggered by sudden voluntary actions [1]. It typically presents in childhood and shows an excellent response to sodium channel blocking antiepileptic drugs [3,7]. We report an 11-year-old boy with classical PKD features, a positive maternal family history, normal neuroimaging, and a marked therapeutic response to low-dose oxcarbazepine after failure of sodium valproate and brivaracetam. Genetic analysis revealed a heterozygous pathogenic PRRT2 frameshift mutation, confirming autosomal dominant episodic kinesigenic dyskinesia (OMIM #128200) [2,4]. This case highlights the importance of early recognition and targeted therapy in this highly treatable pediatric movement disorder [6].

Keywords: Paroxysmal kinesigenic dyskinesia; PRRT2; childhood movement disorders; familial dyskinesia; oxcarbazepine