Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.

Abstract

Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, seizures, microcephaly, and distinct facial features. Additional findings include structural brain abnormalities, eye defects, congenital heart defects, Hirschsprung disease (HSCR), and genitourinary anomalies. It is caused by de novo heterozygous mutations or deletions of the ZEB2 gene on chromosome 2q21-q23. We report here on a 10-month-old boy with typical features of MWS who presented with the novel finding of polymicrogyria on brain magnetic resonance imaging. We also review the current literature regarding central nervous system anomalies in MWS.

• Authors: Susan B Murray, Brooke B Spangler, Benjamin M Helm, Samantha Schrier Vergano
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 167A Issue 10 Pg. 2402-5 (Oct 2015) ISSN: 1552-4833 [Electronic] United States
• PMID: 26012591 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2015 Wiley Periodicals, Inc.

Chemical References

• Homeodomain Proteins
• Repressor Proteins
• ZEB2 protein, human
• Zinc Finger E-box Binding Homeobox 2

Topics

• Abnormalities, Multiple (pathology)
• Chromosomes, Human, Pair 2
• Facies
• Gene Expression
• Heterozygote
• Hirschsprung Disease (complications, diagnosis, genetics, pathology)
• Homeodomain Proteins (genetics)
• Humans
• Infant
• Intellectual Disability (complications, diagnosis, genetics, pathology)
• Magnetic Resonance Imaging
• Male
• Microcephaly (complications, diagnosis, genetics, pathology)
• Mutation
• Polymicrogyria (complications, diagnosis, genetics, pathology)
• Repressor Proteins (genetics)
• Zinc Finger E-box Binding Homeobox 2