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

Abstract

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.

• Authors: Ebtesam Mohamed Abdalla, Louay Hassan Zayed
• Journal: Journal of child neurology (J Child Neurol) Vol. 29 Issue 12 Pg. NP168-70 (Dec 2014) ISSN: 1708-8283 [Electronic] United States
• PMID: 24282181 (Publication Type: Case Reports, Journal Article)
• Copyright: © The Author(s) 2013.

Topics

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