Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion: A Case Report.

ABSTRACT:

Introduction

Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder which can present a diagnostic challenge. We present a case with video examples, of an uncommon cause of PKD.

Case presentation

A 16-year-old male presented with abrupt onset, brief episodes of right-sided head version, usually accompanied by extension of the left and rarely right arm. He experienced preceding bilateral sensory disturbance in his legs. His twin brother was diagnosed with focal seizures. There were no neurodevelopmental concerns. Sudden movement preceded stereotypical episodes. MRI brain was unremarkable. Home video and video EEG were utilised to reach a clinical diagnosis. The clinical phenotype of PKD was recognised, and he was treated with low-dose carbamazepine. Next-generati

SUBMITTER: Carter E 

PROVIDER: S-EPMC12659403 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature