Mowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection

J Child Neurol. 2014 Dec;29(12):NP168-70. doi: 10.1177/0883073813509120. Epub 2013 Nov 25.


Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. The syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including Hirschsprung disease, genital anomalies, congenital heart disease, agenesis of the corpus callosum, and eye defects. The prevalence of Mowat-Wilson syndrome is currently unknown, but it seems that Mowat-Wilson syndrome is underdiagnosed, particularly in patients without Hirschsprung disease. We report here the first Egyptian case of Mowat-Wilson syndrome who was conceived by intracytoplasmic sperm injection. The patient manifested bilateral sensorineural hearing loss--a new feature not previously reported in cases of Mowat-Wilson syndrome. This report describes the first Egyptian patient of Mowat-Wilson syndrome who was conceived after intracytoplasmic sperm injection, and provides a new evidence for the inclusion of deafness among the congenital defects of the syndrome.

Keywords: ZEB2 gene; Hirschsprung disease; Mowat-Wilson syndrome; deafness; intracytoplasmic sperm injection.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Deafness / etiology*
  • Egypt
  • Facies
  • Female
  • Hirschsprung Disease / complications*
  • Hirschsprung Disease / etiology*
  • Humans
  • Intellectual Disability / complications*
  • Intellectual Disability / etiology*
  • Microcephaly / complications*
  • Microcephaly / etiology*
  • Sperm Injections, Intracytoplasmic / adverse effects*

Supplementary concepts

  • Mowat-Wilson syndrome