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Long segment Hirschsprung's disease in the Waardenburg-Shah syndrome

E J Gnananayagam1, R Solomon, A Chandran

  • 1Department of Child Health, Christian Medical College Hospital, 632004 Vellore, Tamil Nadu, India.

Pediatric Surgery International
|June 18, 2003
PubMed

Insights

Infants with Waardenburg syndrome presenting with bowel obstruction symptoms may have aganglionosis. This case highlights long segment Hirschsprung disease in Waardenburg syndrome, associated with significant long-term health risks.

Area of Science:

  • Pediatric Gastroenterology
  • Clinical Genetics

Background:

  • Waardenburg syndrome is a rare genetic disorder.
  • Hirschsprung disease is a congenital condition affecting the large intestine.

Observation:

  • A case of an infant with Waardenburg syndrome presented with signs of bowel obstruction.
  • This clinical presentation raised suspicion for aganglionosis.

Findings:

  • The infant was diagnosed with long segment Hirschsprung disease.
  • This represents a co-occurrence of Waardenburg syndrome and Hirschsprung disease.

Implications:

  • Early suspicion of aganglionosis is crucial in infants with Waardenburg syndrome and bowel obstruction.
  • Management of children with both conditions involves high morbidity and mortality risks.
  • Further research into the genetic and clinical links between these conditions is warranted.

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