title: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature.
abstract: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare intestinal dysmotility condition that also involves a dilated urinary bladder. It was believed to be an autosomal recessive condition, but genetic studies have suggested possibly an autosomal dominant inheritance pattern. Prenatal diagnosis can be challenging, but MRI and amniotic fluid/digestive fluid studies may be complementary investigations to improve diagnostic accuracy. Prognosis of MMIHS is generally poor and treatment is mostly supportive. To date, bowel transplantation remains the only viable treatment to restore bowel motility. Here we present two additional cases to contribute towards the scant literature on this condition.
authors.affiliation: National Women's Health, Auckland, New Zealand.
authors.forename: Joana
authors.initials: J
authors.lastname: De Sousa
authors.forename: Vipul
authors.initials: V
authors.lastname: Upadhyay
authors.forename: Peter
authors.initials: P
authors.lastname: Stone
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000601:surgery; D002675:Child, Preschool; D003106:Colon / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007418:Intestinal Pseudo-Obstruction / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000601:surgery; D007422:Intestines / Q000637:transplantation; D008297:Male; D011296:Prenatal Diagnosis; D011379:Prognosis; D001743:Urinary Bladder / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery