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Un caso di sindrome di Peutz-Jeghers in una bambina di 13 anni

Peutz-Jeghers syndrome (PJS) is a rare, though well-described, hereditary disorder characterized by mucocutaneous pigmentation and hamartomatous polyps that typically present in the second decade of life. The Authors describe a case of a 13 year-old girl who presented with a 4- month story of abdominal pain, located in the periumbilical region, initially without associated symptoms and then followed by nausea and vomiting. Utrasound scan and exploratory laparotomy revealed small-bowel intussusceptions due to the presence of two jejunal polyps: resections and anastomosis of the involved segment were performed. Histopathology revealed the presence of hamartomas and hyperpigmentation on her lips was discovered: the young patient was diagnosed with Peutz-Jeghers syndrome. The diagnosis was confirmed by the presence of a mutation of STK11 (LKB1) gene.