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Megacystis microcolon intestinal hypoperistalsis syndrome complicated by perforation

Vishal K Jain1, Saurabh Garge, Sangram Singh

  • 1Department of Paediatric Surgery, SAIMS, Indore, India.

African Journal of Paediatric Surgery : AJPS
|April 12, 2011
PubMed

Insights

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, fatal congenital disease. This case report details a rare male infant presentation of MMIHS with intestinal perforation.

Area of Science:

  • Pediatric Surgery
  • Medical Genetics
  • Neonatology

Background:

  • Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, fatal congenital disorder primarily affecting the gastrointestinal tract.
  • MMIHS predominantly affects females, with most cases diagnosed in early infancy and a high mortality rate.
  • The condition is characterized by bladder distension, a hypoplastic colon, and absent intestinal peristalsis.

Observation:

  • A male neonate presented with antenatal ultrasound findings suggestive of MMIHS.
  • The infant experienced intestinal perforation shortly after birth, complicated by prematurity.
  • This represents a unique presentation of MMIHS, with perforation as the initial clinical manifestation.

Findings:

  • The case highlights a rare male occurrence of MMIHS.
  • Intestinal perforation is an atypical and severe complication of MMIHS.
  • Antenatal diagnosis was achieved via ultrasound, guiding immediate postnatal management.

Implications:

  • This case expands the understanding of MMIHS presentation, particularly in males.
  • Early diagnosis and prompt surgical intervention are critical for managing MMIHS complications like perforation.
  • Further research into the genetic and pathophysiological mechanisms of MMIHS may improve diagnostic accuracy and therapeutic strategies.

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