Abstract

Investigators at Nihon University School of Medicine, Tokyo, Japan, report two patients with Wolf-Hirschhorn syndrome (WHS) who have a strong affinity for music, not previously described as a feature of this syndrome.

Highlights

  • Distinctive spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome (WHS)

  • WHS is a congenital malformation syndrome that results from deletion of the short arm of chromosome 4, and is characterized by a “Greek warrior helmet” appearance, growth retardation, developmental delay, muscular hypotonia, epilepsy, and a language disorder involving verbal communication

  • Patient 1, a 20-year-old woman with developmental delay, presented with status epilepticus with fever at age 9 months and followed by simple and/or complex partial seizures up to 8 times daily, triggered by fever or bathing

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Summary

Introduction

Distinctive spectrum of epilepsy and electroencephalogram patterns in WHS. Analysis of 87 patients (54 females, 33 males; median age 3.6 years; range 1-25 years) with confirmed 4p16.3 deletion and WHS syndrome found 93% developed epilepsy in the first 3 years of life. Investigators at Nihon University School of Medicine, Tokyo, Japan, report two patients with Wolf-Hirschhorn syndrome (WHS) who have a strong affinity for music, not previously described as a feature of this syndrome. WHS is a congenital malformation syndrome that results from deletion of the short arm of chromosome 4, and is characterized by a “Greek warrior helmet” appearance, growth retardation, developmental delay, muscular hypotonia, epilepsy, and a language disorder involving verbal communication.

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