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

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

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Duodenum
  • Female
  • Humans
  • Intestine, Large
  • Peutz-Jeghers Syndrome* / complications
  • Peutz-Jeghers Syndrome* / diagnosis
  • Peutz-Jeghers Syndrome* / surgery
  • Polyps*
  • Stomach