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Case Reports
. 2024 Mar 5;18(1):86.
doi: 10.1186/s13256-023-04335-9.

Peutz-Jeghers syndrome with polyps in the stomach, duodenum, and small and large intestine: a case report

Zaryab Ali Shah  1 , Muhammad Zeb  2 , Muhammad Ilyas  1 , Hasnain Hamid  1 , Komal Fatima  1 , Maria Batool  1 , Muhammad Abbas  3
Affiliations
Case Reports

Peutz-Jeghers syndrome with polyps in the stomach, duodenum, and small and large intestine: a case report

Zaryab Ali Shah et al. J Med Case Rep. .

Abstract

Background: Peutz-Jeghers syndrome is a rare hereditary condition characterized by gastrointestinal polyps and pigmented oral lesions. The case contributes to a deeper understanding of Peutz-Jeghers syndrome and underscores the significance of interdisciplinary collaboration for accurate diagnosis and tailored therapeutic strategies.

Case description: We present a case of a 15-year-old Afghan female patient with multiple polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. Despite previous medical visits and colonoscopies, her symptoms persisted. A multidisciplinary team discussed the case and recommended further investigations and interventions. A polypectomy was performed, confirming the presence of hamartomatous polyps. The patient was diagnosed with Peutz-Jeghers syndrome, but during the course of treatment she went through complications and was managed surgically as well.

Conclusion: Timely polyp removal and lifelong surveillance are crucial in managing Peutz-Jeghers syndrome. Further research and genetic analysis are needed to improve understanding and management of this rare disorder.

Keywords: Hamartomatous; Peutz–Jeghers; Polyp.

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Conflict of interest statement

No competing interests.

Figures

Fig. 1
Fig. 1
Mucocutaneous pigmentation on lower lip
Fig. 2
Fig. 2
Computed tomography scan with contrast of abdomen and pelvis showing intussusception in small bowel and polyps (arrow)
Fig. 3
Fig. 3
Colonoscopic picture of large polyp occupying the whole lumen at the level of splenic flexure
See this image and copyright information in PMC

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