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

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Megacystis on antenatal scan in female fetuses is rare and has serious diagnostic implications . We report two cases of megacystis-microcolon -intestinal hypoperistalsis syndrome (MMIHS ) in female infants in whom antenatal scan abnormalities were identified , but the diagnosis not made until after delivery . 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 specific diagnostic findings on ultrasound and the absence of an identified genetic locus . The prenatal findings in MMIHS are reviewed and contrasted with those of other causes of lower abdominal masses on antenatal ultrasound .