Journal of Medical Research and Health Sciences

an Open Access Publication

Peutz-Jeghars’ syndrome, a rare genetic disorder: A case report

Fabia Hannan Mone
Anwer Khan Modern Medical College Hospital
Kuntal Roy
Assistant Professor, Department of Pediatrics, Anwer Khan Modern Medical College Hospital, Dhanmondi, Dhaka
Gazi Zahirul Hasan,
Professor, Department of Pediatric Surgery, Bangabandhu Sheikh Mujib Medical University
Kaushik Roy
Resident, Cardiovascular & thorasic Surgery, National Institute of Cardiovascular disease & hospital.
Qazi Sazib Ahamed,
Medical Officer, Anwer Khan Modern Medical College.
Jannatul Ferdous Jui
Medical Officer, Anwer Khan Modern Medical College.

Abstract

Abstract:

Hamartomatous polyposis syndromes or Peutz-Jeghers syndrome (PJS) is a hereditary autosomal dominant disease characterized by benign hamartomatous polyps and mucocutaneous pigmentation in the digestive tract. It occurs mostly in the small intestine during first decade of life but frequently in the colon and stomach. Only a few cases have been reported in the duodenum1. Polyposis syndromes are common cause of adult intussusceptions, with polyps acting as lead points. Adult intussusceptions are rare and is almost always associated with that lead point2. Although hamartomatous polyps are not pre-malignant, there is an increased risk of gastrointestinal and non-gastrointestinal malignancy, commonly involving the small bowel. Most patients of PJS presents with acute abdomen and diagnosed as intussusceptions, commonly entero-enteric type but colo-colic intussusceptions are rare in Peutz-Jeghers syndrome3. To the best of our knowledge, synchronous colo-colic intussusception association in Peutz-Jeghers syndrome has not been previously reported.

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How to Cite
Mone, F. H., Roy, K., Hasan, G. Z., Roy, K., Ahamed, Q. S., & Jui, J. F. (2020). Peutz-Jeghars’ syndrome, a rare genetic disorder: A case report. Journal of Medical Research and Health Sciences, 3(7). https://doi.org/10.15520/jmrhs.v3i7.221
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