Peutz-Jeghers syndrome: management for recurrent intussusceptions

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Genetics

Background:

• Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
• Characterized by hamartomatous gastrointestinal polyps and mucocutaneous freckling.
• Recurrent intussusception in PJS can lead to short bowel syndrome due to multiple surgeries.

Purpose of the Study:

• To present management experience in pediatric PJS patients with recurrent intussusceptions.
• To address the management dilemma in these complex cases.
• To evaluate outcomes of different surgical and conservative approaches.

Main Methods:

• Retrospective review of pediatric PJS patients with recurrent intussusceptions (January 2015 - December 2023).
• Data collected on presentation, management, and follow-up.
• Diagnosis based on World Health Organization (WHO) criteria.

Main Results:

• Nine patients (age 4-17 years) presented with recurrent intussusceptions.
• Eighteen laparotomies performed; 11 at the center.
• Limited resection or enterotomy with polypectomy was favored over extensive resection (8/11 cases).

Conclusions:

• Children with PJS face high risk of multiple laparotomies due to polyps.
• Extensive bowel resection should be avoided due to diffuse gut involvement.
• Conservative management and limited polypectomy are preferred when surgical dilemma exists.