A Novel Neuroimaging Phenotype in the Pediatric Paroxysmal Kinesigenic Dyskinesia

Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by recurrent attacks of hyperkinetic movements which can be isolated or associated with benign infantile seizures as part of the infantile convulsions with choreoathetosis syndrome. We present a case of hyperkinetic movement disorder in the form of choreoathetosis, ballismus, dystonia triggered by sudden movements with a past history of benign infantile convulsions in a 12-year-old girl. The contrast-enhanced brain and spine magnetic resonance imaging showed bilaterally symmetric superior cerebellar cytotoxic edema sparing the vermis with swollen cerebellar foliae. Whole-exome sequencing identified a homozygous frameshift duplication NM_145239.3(PRRT2):c.649dupC(p.Arg217Profs*8) in the PRRT2 gene. This case report highlights the frameshift duplication in the PRRT2 gene and rare neuroimaging findings which further expand the phenotypic characteristics of PKD in children.

Keywords

PRRT2 - hyperkinetic - dyskinesia - paroxysmal - choreoathetosis

Author Contribution

R.S. was responsible for conceptualization. R.S. and B.H. were responsible for data curation. R.S. was responsible for formal analysis. S.S. was responsible for methodology. G.K. was responsible for visualization. R.S., S.S., A.M., and B.H. were responsible for writing review and editing.

Publikationsverlauf

Eingereicht: 06. Mai 2023

Angenommen: 02. Juli 2023

Artikel online veröffentlicht:
02. August 2023

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