Neonatal Med.  2015 Nov;22(4):233-237. 10.5385/nm.2015.22.4.233.

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

• Suh BS
• Ko KH
• Lee KH
• Sung TJ

• KMID: 2130694
• DOI: http://doi.org/10.5385/nm.2015.22.4.233

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.

Keyword

Wolf-Hirschhorn syndrome; Periventricular nodular heterotopia; Status epilepticus

MeSH Terms

Arm
Child, Preschool
Chromosomes, Human, Pair 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Female
Humans
Intellectual Disability
Karyotype
Magnetic Resonance Imaging
Parturition
Periventricular Nodular Heterotopia*
Status Epilepticus*
Wolf-Hirschhorn Syndrome*