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Megacystis - microcolon - intestinal hypoperistalsis syndrome
M Goldberg1, D Pruchniewski, P G Beale
1Division of Paediatric Surgery, University of the Witwatersrand Medical School, Johannesburg, South Africa.
Pediatric Surgery International
|September 24, 2013
Summary
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare, fatal condition. These cases show MMIHS presents with varying intestinal peristalsis, highlighting its unpredictable clinical course in neonates.
Area of Science:
- Pediatric Gastroenterology
- Rare Genetic Disorders
- Neonatal Medicine
Background:
- Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder.
- It is characterized by a triad of findings: bladder distension, a small colon, and intestinal hypoperistalsis.
Purpose of the Study:
- To describe two cases of MMIHS in non-related female neonates.
- To illustrate the variability in clinical presentation and disease course of MMIHS.
Main Methods:
- Case report of two neonates diagnosed with MMIHS.
- Clinical observation of intestinal motility and rectal function.
Main Results:
- One neonate presented with absent intestinal peristalsis; the other had decreased peristalsis with occasional rectal evacuation.
- Both cases had a fatal outcome, despite differing degrees of intestinal motility.
- One case had a positive family history suggestive of a genetic component.
Conclusions:
- MMIHS exhibits a wide spectrum of clinical manifestations, particularly in intestinal and rectal function.
- The syndrome is consistently fatal, underscoring the need for further research into its pathophysiology and potential treatments.
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