Peutz-Jeghers syndrome associated with intestinal intussusception: a case report.

A 12-year-old boy visited our hospital with complaints of severe upper abdominal pain and vomiting. Marked tenderness was present in the upper abdomen, and a movable hard tumor the size of a fist was felt there. Because abdominal computed tomography scans revealed invagination, an emergency laparotomy was performed. The small intestine was invaginated over an area measuring 30 cm in length. After the invaginated intestine was restored, a mass was felt in the small intestine, which was resected over an area measuring approximately 10 cm in length. The extracted mass was histopathologically found to be a hamartoma. The patient was diagnosed to have Peutz-Jeghers syndrome (PJS) based on the presence of pigmented spots detected on the oral cavity, lips, and toes of both feet. PJS is an autosomal dominant genetic disease associated with melanin pigment spots on the oral mucosa, lips, nasal alae, palm, and soles, as well as hamartomatous polyposis in the alimentary canal. Polyps are often a cause of invagination and ileus in affected patients. Gastrointestinal cancer, uterine cancer, and breast cancer are also seen in patients with PJS. A long-term follow-up is required to prevent invagination and ileus in children and cancer in adults.