Beyond the Phenotype: A Pediatric Case Series of Seizure and EEG Characteristics in Wolf-Hirschhorn Syndrome

Abstract

AbstractWolf-Hirschhorn syndrome (WHS) is a rare genetic syndrome caused by deletion of a portion of the short arm of chromosome 4 (del 4p16.3). Aside from the many phenotypic abnormalities common in WHS, seizures are seen in the vast majority of the patients and are a potentially treatable cause of significant morbidity especially in the younger age group. Currently, however, little information is available regarding the associated seizure phenotypes, electroencephalographic (EEG) features, and seizure/epilepsy outcomes. This case series highlights the seizure phenotypes and EEG findings in three patients with WHS.