Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy

Two newborn infants with megacystis-microcolon-intestinal hypoperistalsis syndrome are described. Review of the literature revealed twenty previously reported cases of this syndrome. Electron microscopic examination of the ileum and urinary bladder showed vacuolar degenerative changes in the smooth muscle cells with abundant amount of connective tissue between the muscle cells. These ultrastructural findings suggest that a degenerative disease of smooth muscle may be the cause of megacystis microcolon intestinal hypoperistalsis syndrome.