title: 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.affiliation: Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.
authors.forename: Susan B
authors.initials: SB
authors.lastname: Murray
authors.affiliation: Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.|Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
authors.forename: Brooke B
authors.initials: BB
authors.lastname: Spangler
authors.affiliation: Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.|Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
authors.forename: Benjamin M
authors.initials: BM
authors.lastname: Helm
authors.affiliation: Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.|Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
authors.forename: Samantha Schrier
authors.initials: SS
authors.lastname: Vergano
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D002889:Chromosomes, Human, Pair 2; D019066:Facies; D015870:Gene Expression; D006579:Heterozygote; D006627:Hirschsprung Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D065706:Polymicrogyria / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D012097:Repressor Proteins / Q000235:genetics*; D000074165:Zinc Finger E-box Binding Homeobox 2
chemical_list: D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2
keywords: Hirschsprung disease; Mowat-Wilson syndrome; ZEB2; polymicrogyria