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Katabathina VS, Menias CO, Khanna L, et al. Hereditary Gastrointestinal Cancer Syndromes: Role of Imaging in Screening, Diagnosis, and Management. Radiographics 2019; 39: 1280.

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

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.


American Journal of Medical Case Reports. 2025, Vol. 13 No. 1, 1-4
DOI: 10.12691/ajmcr-13-1-1
Copyright © 2025 Science and Education Publishing

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, 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.

Correspondence to: Abel  Tenaw Tasamma, Department of Internal Medicine, Addis Ababa University, Addis Ababa, Ethiopia.. Email: abeltenaw@gmail.com

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.

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