Un bersaglio quando meno te lo aspetti: la sindrome di Peutz-Jeghers

Abstract

Peutz-Jeghers Syndrome is a genetic condition that puts affected patients at risk of oncological degeneration and gastrointestinal complications. In most cases, abdominal pain is the acute symptom that leads the patient to the emergency room. This may be due to dangerous medical conditions, such as bleeding polyps and intussusception. The clinical presentation of intussusception might initially be subtle with an intermittent pattern that may be underestimated as the child may alternate intense pain with phases of complete well-being. The paper underlines that intense colic pain associated with emesis must always be included in the differential diagnosis of intestinal intussusception, even if it is a rare pathology in children over 2 years of age. The clinician must conduct a targeted anamnesis to investigate secondary causes in a patient with possible intussusception at a non-typical age.