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Peutz-Jeghers Syndrome Manifested as Multiple Polyps in Jejunum With Intussusception

Hai Hua Jiang1, Feng Lu1, Shu Guang Tan1

  • 1Department of Gastrointestinal Surgery, Hengyang Central Hospital, Hengyang, Hunan 421000, China.

Journal of Medical Cases
|July 15, 2022
PubMed

Insights

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing gastrointestinal polyps and pigmented spots. Early diagnosis and management are crucial to prevent complications like intussusception and cancer.

Area of Science:

  • Genetics
  • Gastroenterology
  • Oncology

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disorder.
  • Characterized by mucocutaneous pigmentation and hamartomatous gastrointestinal polyps.
  • Associated with an increased risk of various cancers.

Observation:

  • A case report of a 26-year-old male with PJS presenting with jejunal polyps and intussusception.
  • The patient underwent emergency surgery for reduction and partial small intestine resection.
  • Highlights the potential for severe complications in PJS patients.

Findings:

  • PJS can lead to significant gastrointestinal issues including bleeding, obstruction, and intussusception.
  • Malignant transformation is a serious concern in individuals with PJS.
  • The case underscores the importance of recognizing PJS manifestations.

Implications:

  • Emphasizes the need for accurate understanding and diagnosis of PJS.
  • Highlights the role of endoscopic polypectomy and surveillance in management.
  • Stresses the necessity of surgical intervention for acute complications and cancer treatment.

Keywords:
Intestinal polypsIntussusceptionMucosal pigmentationPeutz-Jeghers syndromeTreatment

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