Neonatal Medicine  2015;22(4):233-237

doi:10.5385/nm.2015.22.4.233

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

Bong Sul SUH 1 ; Keun Hyeok KO ; Kon Hee LEE ; Tae Jung SUNG

Affiliations

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Keywords

Wolf-Hirschhorn syndrome; Periventricular nodular heterotopia; Status epilepticus

Country

Republic of Korea

Language

Korean

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.