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CASE REPORT article

Front. Pediatr.

Sec. Pediatric Gastroenterology, Hepatology and Nutrition

This article is part of the Research TopicCase Reports in Pediatric Gastroenterology, Hepatology, and Nutrition 2025View all 10 articles

Familial pediatric Peutz–Jeghers Syndrome with Recurrent Intussusception: Case report and Literature Review

Provisionally accepted
Sondes SAHLISondes SAHLI1,2Bochra AZIZABochra AZIZA1,2*Nada SghairounNada Sghairoun1,2Asma SLIMANIAsma SLIMANI1,2Nadia BoujelbeneNadia Boujelbene2,3,4Rim MissaouiRim Missaoui2,3,4Zohra RAHALZohra RAHAL2,5Said JLIDISaid JLIDI1,2
  • 1Children's Hospital of Tunis, Tunis, Tunisia
  • 2Universite de Tunis El Manar Faculte de Medecine de Tunis, Tunis, Tunisia
  • 3Institut Salah Azaiez, Tunis, Tunisia
  • 4Universite de Tunis El Manar Faculte des Sciences de Tunis, Tunis, Tunisia
  • 5departement of pediatric surgery of beja, beja, Tunisia

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Background: Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis, predisposing affected individuals to recurrent small bowel intussusception and increased cancer risk. Case Presentation: We report two siblings with genetically confirmed PJS who presented with intestinal obstruction due to small bowel intussusception. The first, a 13-year-old girl, had necrotic ileal intussusception caused by a large polyp requiring segmental resection. Her younger brother had jejuno-jejunal intussusception secondary to multiple intraluminal polyps, managed by manual reduction and polyp extraction. Histopathological examination revealed characteristic hamartomatous Peutz–Jeghers polyps with villous architecture and arborizing bundles of compact smooth muscle. Genetic analysis confirmed a pathogenic STK11/LKB1 mutation in both patients. At 5-year follow-up, both remained asymptomatic under regular endoscopic and imaging surveillance. Conclusion: PJS should be suspected in children presenting with recurrent small bowel intussusception, particularly with mucocutaneous pigmentation or a positive family history. Early diagnosis, bowel-preserving surgery, and long-term multidisciplinary follow-up are key to preventing recurrence and malignant transformation.

Keywords: Children, Intestinal intussusception, Intestinal Polyposis, Peutz–Jeghers syndrome, Surgery

Received: 15 Dec 2025; Accepted: 16 Feb 2026.

Copyright: © 2026 SAHLI, AZIZA, Sghairoun, SLIMANI, Boujelbene, Missaoui, RAHAL and JLIDI. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Bochra AZIZA

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