Megacystis, microcolon, intestinal hypoperistalsis syndrome: possible pathogenesis.
Two cases of "Megacystis-microcolon-intestinal hypoperistalsis syndrome" are described. These appear to be the seventh and eighth cases in published literature. Consistent with the two published reports, both our patients were newborn female infants who manifested a large bladder, associated with unused colon and functional intestinal obstruction. While the earlier published reports mention a full complement of normal mature ganglion cells in all parts of the bowel, the two cases described here showed " dysganglionosis " to some extent, in the form of fewer and shrunken neurones along with other mature-looking neurones in some parts of the bowel. The bladder was available for histologic examination only in the second case and showed apparently normal innervation. Hence, it is felt that the intestinal obstruction in these cases could have been due to a disturbance in bowel innervation.
D003106:Colon / Q000002:abnormalities*; D004108:Dilatation, Pathologic / Q000151:congenital; D005260:Female; D005724:Ganglia / Q000002:abnormalities; D005769:Gastrointestinal Motility; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000151:congenital*; D010528:Peristalsis; D013577:Syndrome; D001745:Urinary Bladder Diseases / Q000151:congenital*