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Intestinal occlusion revealing Peutz Jeghers syndrome: A rare case report
Mohamed Yassine Mabrouk1, Abdelali Guelil1, Leila Bouzayan1
1Department of General Surgery, Mohamed VI University Hospital, Oujda, Morocco; Faculty of Medicine and Pharmacy, Laboratory of Anatomy, Microsurgery and Surgery Experimental and Medical Simulation (LAMCESM), Mohammed 1st University, Oujda, Morocco.
Insights
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing gastrointestinal polyps and skin spots. Early diagnosis and polyp removal are crucial for preventing complications like intussusception and reducing cancer risk.
Area of Science:
- Genetics
- Gastroenterology
- Pediatric Surgery
Background:
- Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder.
- Characterized by hamartomatous polyps and mucocutaneous lentiginosis.
- Associated with increased cancer risk and complications like intestinal intussusception.
Introduction:
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant congenital disorder characterized by the presence of hamartomatous polyps in the gastrointestinal tract and mucocutaneous lentiginosis. It is associated with an elevated risk of cancer and substantial morbidity related to polyps, notably intestinal intussusception during childhood.
Case Presentation:
We report the case of an 18-year-old female patient, who consulted for subocclusif syndrome with multiple pigmented spots on the face and lips. Abdominal computed tomography (CT) revealed an image of ileo-mesenterico-colic intussusception. The patient underwent a hemicolectomy involving the ileum, removing the intussusception and the ileal polyp. The pathologic examination confirmed the diagnosis of Peutz-Jeghers polyps without malignancy.
Discussion:
The diagnosis of SPJ can be established in patients presenting one or more polyps and at least two of the associated clinical criteria: labial melanin deposits, family history of the syndrome and polyposis of the small bowel. Half of the cases present with small bowel obstruction. PJS is associated with an increased risk of gastrointestinal and non-gastrointestinal malignancies. Endoscopic or surgical polypectomy remains the preferred treatment options to prevent complications.
Conclusion:
Regular surveillance of the gastrointestinal tract is recommended both for cancer prevention and early detection, and to prevent polyp-related complications and certainly improve prognosis in these patients.
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