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A Rare Cause of Rectovaginal Fistula in Early Infancy: It is in the Genes!

Aravind Swaminathan1, Malathi Sathiyasekaran2, Swathi Padankatti3

  • 1Department of Pediatrics, MGM Healthcare, Chennai, Tamil Nadu, India.

Journal of Indian Association of Pediatric Surgeons
|December 16, 2021
PubMed

Insights

A rare rectovaginal fistula in an infant was linked to Interleukin-10 receptor (IL10RB) deficiency, a genetic disorder causing severe colitis and infections. Hematopoietic stem cell transplantation offered a cure.

Area of Science:

  • Pediatric Gastroenterology
  • Immunology
  • Genetics

Background:

  • Acquired rectovaginal fistula (RVF) is uncommon in infants.
  • Interleukin-10 receptor (IL10RB) deficiencies cause severe infantile-onset inflammatory bowel disease (IBD) with perianal complications.
  • Genetic analysis is crucial for diagnosing these monogenic disorders.

Observation:

  • A two-month-old infant presented with RVF, severe colitis, failure to thrive, and recurrent infections.
  • Colonoscopy revealed irregular colonic ulcers.
  • Genetic testing identified a mutation in the IL10RB gene.

Findings:

  • The infant's symptoms were attributed to an IL10RB mutation.
  • This mutation led to aggressive IBD with extraintestinal manifestations.
  • Early genetic diagnosis is key for appropriate management.

Implications:

  • Highlights the importance of considering genetic causes for infantile IBD and fistulas.
  • Suggests a broader diagnostic approach beyond local anatomical issues.
  • Hematopoietic stem cell transplantation is a definitive treatment for IL10RB deficiency, offering a curative option.

Keywords:
Hematopoietic Stem Cell TransplantIL10/IL10RInfantile Onset IBDMonogenic IBDRectovaginal Fistula

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