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.
Keywords:
Hirschsprung disease; Mowat-Wilson syndrome; ZEB2; polymicrogyria.
© 2015 Wiley Periodicals, Inc.
MeSH terms
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Abnormalities, Multiple / pathology
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Chromosomes, Human, Pair 2
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Facies
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Gene Expression
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Heterozygote
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Hirschsprung Disease / complications
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Hirschsprung Disease / diagnosis*
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Hirschsprung Disease / genetics
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Hirschsprung Disease / pathology
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Homeodomain Proteins / genetics*
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Humans
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Infant
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Intellectual Disability / complications
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Intellectual Disability / diagnosis*
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Intellectual Disability / genetics
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Intellectual Disability / pathology
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Magnetic Resonance Imaging
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Male
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Microcephaly / complications
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Microcephaly / diagnosis*
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Microcephaly / genetics
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Microcephaly / pathology
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Mutation*
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Polymicrogyria / complications
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Polymicrogyria / diagnosis*
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Polymicrogyria / genetics
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Polymicrogyria / pathology
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Repressor Proteins / genetics*
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Zinc Finger E-box Binding Homeobox 2
Substances
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Homeodomain Proteins
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Repressor Proteins
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ZEB2 protein, human
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Zinc Finger E-box Binding Homeobox 2