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Journal of Pediatric Epilepsy 2019; 08(02): 056-060
DOI: 10.1055/s-0039-1700838
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Sarah Grace Engel
1   Medical University of South Carolina, College of Medicine, Charleston, South Carolina, United States
,
Sonal Bhatia 
2   Department of Pediatrics, Division of Pediatric Neurology, Medical University of South Carolina, Charleston, South Carolina, United States
› Author Affiliations
Further Information

Publication History

22 April 2019

26 September 2019

Publication Date:
08 November 2019 (online)

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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
 

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