Duodeno-jejunal intussusception due to a solitary Peutz–Jeghers polyp in a 3-year-old Malaysian girl

Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder occurring in 1 in 150 000 people. It is characterized by familial mucocutaneous pigmentation (dark freckles on face, lips, buccal mucosa, palm and soles) and hamartomatous polyps in the gastrointestinal tract. An isolated duodenal Peutz–Jeghers type polyp causing pediatric intussusception is extremely unusual. It is unclear if a solitary duodenal Peutz–Jeghers polyp is the first sign of PJS or a completely separate clinical entity existing by itself. Here, we describe a 3-year-old Malaysian girl with a 3-month history of upper abdominal distension. A single Peutz–Jeghers type duodenal polyp, causing duodenal–jejunal intussusception and upper gastrointestinal obstruction, was subsequently visualized by ultrasonography. Submucosal resection and anastomosis of the duodenum was performed. The pathology report described a solitary 3 cm × 4 cm duodenal polyp consistent with PJS. The girl was eventually followed up in clinic. We conclude that PJS is a differential diagnosis to consider when an acute pediatric intussusception is found. Appropriate surgical techniques are necessary to reduce morbidity, mortality and the need for secondary operations. Prophylactic surveillance such as timely gastrointestinal investigations, screening of at-risk individuals and their family members, genetic testing, and lifelong patient follow-up, are recommended.