Megacystis-microcolon-intestinal hypoperistalsis syndrome in two male siblings.
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.
Garber
A
A
Medical Genetics Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, California 90048.
Shohat
M
M
Sarti
D
D
D003106:Colon / Q000002:abnormalities*; D005260:Female; D005767:Gastrointestinal Diseases / Q000151:congenital / Q000175:diagnosis*; D006801:Humans; D006869:Hydronephrosis / Q000175:diagnosis; D007231:Infant, Newborn; D010528:Peristalsis; D011247:Pregnancy; D013577:Syndrome; D014463:Ultrasonography; D001743:Urinary Bladder / Q000002:abnormalities*