title: Peutz-Jeghers syndrome: is family screening needed?
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.
authors.affiliation: Klinik für Kinderchirurgie, Ostschweizer Kinderspital St. Gallen, Switzerland.
authors.forename: G
authors.initials: G
authors.lastname: Baumgartner
authors.forename: J
authors.initials: J
authors.lastname: Neuweiler
authors.forename: D
authors.initials: D
authors.lastname: Herzog
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003113:Colonoscopy; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006222:Hamartoma / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D006801:Humans; D007417:Intestinal Polyps / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D007443:Intussusception / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D007579:Jejunal Diseases / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D008297:Male; D020380:Needs Assessment; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics