Frontiers in pediatrics · 2026
Familial pediatric Peutz-Jeghers syndrome with recurrent intussusception: case report and literature review.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Sahli Sondes, Aziza Bochra, Sghairoun Nada, Slimani Asma, Boujelbene Nadia, Missaoui Rim, Rahal Zohra, Jlidi Said
Аннотация
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.
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.