Megacystis-microcolon-intestinal hypoperistalsis syndrome in two male siblings.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Two male sibs with severe congenital megacystis-microcolon -intestinal hypoperistalsis syndrome (MMIHS ) are presented . Both had enlarged bladder and hydronephrosis due to reduced bladder emptying , decreased bowel motility , and malrotation of the colon . Repeated careful ultrasound examination of the urinary tract in the second sib failed to show significant bladder enlargement prior to 25 weeks ' gestation , which has been considered to be a reliable prenatal diagnostic sign for MMIHS . Slight bilateral enlargement of the renal pelves was noted at 21 weeks ' gestation , and this may represent the earliest prenatally-detectable observation in this disease . Although more females than males with this condition have been reported , our cases provide support for an autosomal recessive mode of inheritance with a similar recurrence risk for both sexes .