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Sirolimus for the Treatment of Juvenile Polyposis in Childhood

Rafael Martín-Masot1, Nerea Cardelo Autero1, Pilar Ortiz Pérez1

  • 1Pediatric Gastroenterology and Nutrition Unit, Hospital Regional Universitario de Málaga, Málaga, Spain.

ACG Case Reports Journal
|September 3, 2021
PubMed

Insights

Juvenile polyposis syndrome (JPS) is a rare genetic disorder causing gastrointestinal polyps. A SMAD4 gene mutation in a child with JPS was successfully treated with sirolimus, offering a new therapeutic option.

Area of Science:

  • Genetics
  • Gastroenterology
  • Pediatrics

Background:

  • Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder.
  • Characterized by hamartomatous polyps in the GI tract.
  • Common symptoms include abdominal pain, bleeding, and anemia.

Observation:

  • A case of JPS with a childhood phenotype due to a SMAD4 gene mutation.
  • The patient presented with typical JPS symptoms.

Findings:

  • Successful treatment of JPS with sirolimus in a pediatric patient.
  • Sirolimus demonstrated efficacy in managing JPS associated with SMAD4 mutation.

Implications:

  • Suggests sirolimus as a potential therapeutic agent for JPS.
  • Highlights the role of SMAD4 mutations in JPS pathogenesis and treatment response.

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