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

Helina K. Teklehaimanot¹, Merga Daba¹, Abel Tenaw Tasamma^1, , Eskedar Ferdu Azerefegne¹, Motuma Gonfa Ayana², Yohannes Berhanu¹, Surafiel Adugna wube³, Wilkan Alamerew Belay³, Ekram Muhammedasrar Ahmedelhadi⁴, Meley Tesfamichael Giorgis⁵ and Thomas Asfaw Atnafu¹

¹Department of Internal Medicine, Addis Ababa University, Addis Ababa, Ethiopia.

²Department of Research and Technical Development, International Clinical Laboratories, Addis Ababa, Ethiopia.

³Department Internal Medicine, Debre Markos University, Debre Markos, Ethiopia.

⁴Department of Obstetrics and Gynecology, St Paul Millennium Medical College, Addis Ababa, Ethiopia.

⁵African Centers for Disease Control and Prevention, Addis Ababa, Ethiopia.

Cite this paper:
Helina K. Teklehaimanot, Merga Daba, Abel Tenaw Tasamma, Eskedar Ferdu Azerefegne, Motuma Gonfa Ayana, Yohannes Berhanu, Surafiel Adugna wube, Wilkan Alamerew Belay, Ekram Muhammedasrar Ahmedelhadi, Meley Tesfamichael Giorgis and Thomas Asfaw Atnafu. Juvenile Polyposis Syndrome in a Young Male Patient: A Case Report and Review of Literature. American Journal of Medical Case Reports. 2025; 13(1):1-4. doi: 10.12691/ajmcr-13-1-1

Abstract

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.

Keywords:
Rectal bleeding polyp Juvenile polyposis rectal prolapse

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