Megacystis-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature

Megacystis on antenatal scan in female fetuses is rare and has serious diag nostic implications. We report two cases of megacystis-microcolon-intestina l hypoperistalsis syndrome (MMIHS) in female infants in whom antenatal scan abnormalities were identified, but the diagnosis not made until after deli very. MMIHS is a rare autosomal recessive condition which is usually lethal in the first year of life. Prenatal diagnosis is hampered by the lack of s pecific diagnostic findings on ultrasound and the absence of an identified genetic locus. The prenatal findings in MMIHS are reviewed and contrasted w ith those of other causes of lower abdominal masses on antenatal ultrasound . Copyright (C) 2000 John Wiley & Sons, Ltd.