Peutz-Jeghers syndrome: is family screening needed?

Pediatr Surg Int. 2000;16(5-6):437-9. doi: 10.1007/s003839900296.

Abstract

In a 7-year-old boy, a small-bowel polyp was found intraoperatively as a lead point of an intussusception. Histologically, a hamartoma was found and the clinical work-up revealed Peutz-Jeghers syndrome (PJS). Additionally, all four asymptomatic siblings showed intestinal polyposis. All children in a family with PJS should be properly investigated. In case of an intussusception with a polyp in a critical location, a surgical procedure should follow.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Colonoscopy
  • Female
  • Genetic Testing / methods*
  • Hamartoma / complications*
  • Hamartoma / diagnosis
  • Hamartoma / surgery
  • Humans
  • Intestinal Polyps / complications*
  • Intestinal Polyps / diagnosis
  • Intestinal Polyps / surgery
  • Intussusception / complications*
  • Intussusception / diagnosis
  • Intussusception / surgery
  • Jejunal Diseases / complications*
  • Jejunal Diseases / diagnosis
  • Jejunal Diseases / surgery
  • Male
  • Needs Assessment
  • Pedigree
  • Peutz-Jeghers Syndrome / complications*
  • Peutz-Jeghers Syndrome / diagnosis*
  • Peutz-Jeghers Syndrome / genetics