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Intractable ulcerating enterocolitis of infancy.

I R Sanderson1, R A Risdon, J A Walker-Smith

  • 1Academic Department of Paediatric Gastroenterology, Queen Elizabeth Hospital for Children, London.

Archives of Disease in Childhood
|March 1, 1991
PubMed
Summary

This study describes a rare inherited gastrointestinal disorder in infants with severe diarrhea, mouth ulcers, and colitis. The condition required colectomy and appears distinct from Behçet's or Crohn's disease.

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With commentary.

Archives of disease in childhood·2010

Area of Science:

  • Pediatric Gastroenterology
  • Genetics
  • Inflammatory Bowel Disease

Background:

  • Intractable diarrhea in infancy can indicate serious underlying conditions.
  • Early-onset inflammatory bowel disease (IBD) presents diagnostic challenges.

Observation:

  • Five infants presented with intractable diarrhea, ulcerating stomatitis, colitis with large ulcers, and severe perianal disease.
  • No infectious pathogens were identified in stool samples.
  • Four cases involved consanguineous marriages, suggesting a potential genetic link.

Findings:

  • Small intestinal biopsies showed partial villous atrophy in four children.
  • Standard IBD treatments (steroids, sulphasalazine, azathioprine) were ineffective.
  • All five children ultimately required subtotal colectomy for disease management.

Implications:

  • The clinical presentation suggests a distinct inherited condition affecting the entire gastrointestinal tract, particularly the colon.
  • This condition differs from established diagnoses like Behçet's disease and Crohn's disease.
  • Further research into the genetic basis of this pediatric gastrointestinal disorder is warranted.

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