Rahul Sinha, Bharat Hosur, Sonali Singh, Gautam Kamila, A. Meena
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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.
期刊介绍:
The Journal of Pediatric Epilepsy is an English multidisciplinary peer-reviewed international journal publishing articles on all topics related to epilepsy and seizure disorders, epilepsy surgery, neurology, neurosurgery, and neuropsychology in childhood. These topics include the basic sciences related to the condition itself, the differential diagnosis, natural history, and epidemiology of seizures, and the investigation and practical management of epilepsy (including drug treatment, neurosurgery and non-medical and behavioral treatments). Use of model organisms and in vitro techniques relevant to epilepsy are also acceptable. Journal of Pediatric Epilepsy provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis and treatment of childhood epilepsy.