Megacystis, microcolon, intestinal hypoperistalsis syndrome: possible pathogenesis

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.