A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus.

Suh,  Bong Sul; Ko,  Keun Hyeok; Lee,  Kon Hee; Sung,  Tae Jung

doi:2015.22.4.233

Neonatal Med > Volume 22(4); 2015 > Article

Case Report

Neonatal Medicine 2015;22(4):233-237.
DOI: https://doi.org/10.5385/nm.2015.22.4.233 Published online November 30, 2015.

A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus.

Bong Sul Suh, Keun Hyeok Ko, Kon Hee Lee, Tae Jung Sung

Department of Pediatrics, Hallym University Medical Center, Kangnam Sacred Heart Hospital, Seoul, Korea. neosung@hallym.or.kr

Abstract

Wolf-Hirschhorn syndrome is a congenital disorder associated with partial deletion of the short arm of chromosome 4. The majority of patients showed characteristic facial anomalies - so called "Greek-Helmet" appearances - mental retardation, growth retardation, and developmental delay. Here we report the case of a 3-year-old girl who was diagnosed as having Wolf-Hirschhorn syndrome immediately at birth with distinct facial anomalies and an abnormal chromosomal karyotype [46,XX,del(4)(p14)]. The patient later presented with status epilepticus and magnetic resonance imaging showed periventricular nodular heterotopia.

Key Words: Wolf-Hirschhorn syndrome; Periventricular nodular heterotopia; Status epilepticus