title: Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report.
abstract: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder characterized by a dilated, non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract, which is considered lethal. About 90 patients have been reported, predominantly female. We present the case of a female newborn with MMIHS in whom antenatal ultrasound was suggestive for the diagnosis, which was confirmed after delivery. Diagnostic features by antenatal ultrasound are described.
authors.affiliation: Department of Pediatrics, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands.
authors.forename: S C A T
authors.initials: SC
authors.lastname: Verbruggen
authors.forename: R M H
authors.initials: RM
authors.lastname: Wijnen
authors.forename: P
authors.initials: P
authors.lastname: van den Berg
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging; D003106:Colon / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007410:Intestinal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D010528:Peristalsis; D013577:Syndrome; D014463:Ultrasonography; D001743:Urinary Bladder / Q000002:abnormalities* / Q000000981:diagnostic imaging