title: Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings.
abstract: OBJECTIVE
  To investigate prenatal ultrasonographic findings associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).
  
  
  METHODS
  A PubMed search was performed using the terms 'MMIHS', 'MMIH' and 'prenatal diagnosis'.
  
  
  RESULTS
  A total of 50 cases were analyzed. Prenatal diagnosis was achieved in 26% of cases. In 54% of patients with a correct antenatal diagnosis there was a previously affected sibling. Fetal megacystis with or without hydroureteronephrosis was the most common initial ultrasonographic finding (88%). While megacystis eventually complicated all fetal presentations, isolated bilateral hydronephrosis and isolated dilated stomach were noted (in 10 and 2% of cases, respectively) prior to megacystis. The initial sonographic abnormality was most commonly detected (in 70% of patients) in the second trimester. Amniotic fluid was normal in 69% and increased in 27% of cases. Gastrointestinal abnormalities were noted in 24% of pregnancies.
  
  
  CONCLUSIONS
  MMIHS should be prenatally suspected when fetal megacystis is associated with a normal or increased amount of amniotic fluid and normal external genitalia, especially in the setting of a suggestive family history. Associated gastrointestinal findings support this diagnosis. Isolated bilateral hydronephrosis may precede the development of megacystis. Due to preserved renal function and a general absence of oligohydramnios, no rationale exists for vesicoamniotic shunt placement.
authors.affiliation: Division of Clinical Genetics, Columbia University Medical Center, New York, N.Y., USA.
authors.forename: Lea
authors.initials: L
authors.lastname: Tuzovic
authors.forename: Kwame
authors.initials: K
authors.lastname: Anyane-Yeboa
authors.forename: Ashley
authors.initials: A
authors.lastname: Mills
authors.forename: Kenneth
authors.initials: K
authors.lastname: Glassberg
authors.forename: Russell
authors.initials: R
authors.lastname: Miller
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000601:surgery; D000328:Adult; D003106:Colon / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007418:Intestinal Pseudo-Obstruction / Q000000981:diagnostic imaging* / Q000601:surgery; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods / Q000592:standards*; D001743:Urinary Bladder / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery