Abstract
Wolf-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.
Keywords
Wolf-Hirschhorn syndrome - EEG - seizure