Familial pediatric Peutz–Jeghers syndrome with recurrent intussusception: case report and literature review

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.