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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
Summary
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.
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