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

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

1. Department of Pediatrics, Hallym University Medical Center, Kangnam Sacred Heart Hospital, Seoul, Korea. neosung@hallym.or.kr
Publication Type:Case Report
Keywords: Wolf-Hirschhorn syndrome; Periventricular nodular heterotopia; Status epilepticus
MeSH: 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*
From:Neonatal Medicine 2015;22(4):233-237
CountryRepublic 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.