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Megacystis, microcolon, intestinal hypoperistalsis syndrome: possible pathogenesis
Insights
This study describes two new cases of Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). Unlike previous reports, these cases showed dysganglionosis, suggesting a potential link between bowel innervation disturbances and intestinal obstruction in MMIHS.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Medical Genetics
Background:
- Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder.
- It is characterized by bladder enlargement, a small unused colon, and functional intestinal obstruction.
- Previous literature indicates normal intestinal innervation in MMIHS.
Observation:
- Two cases of MMIHS in newborn female infants are presented, representing the seventh and eighth reported cases.
- Patients presented with a large bladder, unused colon, and intestinal obstruction.
- Histological examination revealed dysganglionosis in some parts of the bowel, with fewer and shrunken neurons.
Findings:
- The observed dysganglionosis in the bowel suggests a potential abnormality in intestinal innervation.
- The bladder innervation appeared normal in the examined case.
- This contrasts with prior reports of normal ganglion cell complements in MMIHS.
Implications:
- The findings suggest that intestinal obstruction in MMIHS may stem from disturbances in bowel innervation, specifically dysganglionosis.
- Further research into the neurocristopathy of MMIHS is warranted.
- These cases expand the understanding of the spectrum of intestinal innervation abnormalities in MMIHS.
Abstract:
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.