Juvenile Polyposis Syndrome in a Young Male Patient: A Case Report and Review of Literature

Introduction: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder marked by multiple gastrointestinal polyps. It often presents with symptoms like lower gastrointestinal bleeding, necessitating early diagnosis and treatment. Case Presentation: We present a 13-year-old male with a two-month history of rectal bleeding and prolapse. Colonoscopy and genetic testing confirmed JPS, and the patient underwent total proctocolectomy with ileal pouch-anal anastomosis. Discussion: JPS involves multiple juvenile polyps, primarily in the colon and rectum, causing symptoms like bleeding, anemia, and prolapse. It is linked to mutations in SMAD4 or BMPR1A genes, increasing cancer risk. Diagnosis is based on clinical and genetic criteria, with treatment ranging from polypectomy to surgery for severe cases, alongside regular surveillance. The patient underwent successful surgery and is under annual monitoring. Conclusion: JPS is a rare precancerous condition typically presenting with gastrointestinal bleeding. Early identification is key for surveillance and interventions to reduce cancer risk.