Solitary Peutz-Jeghers Polyp in a Paediatric Patient

Lorenzo Nanni, Giuseppe Retrosi, Fabio Maria Vecchio, Carlo Manzoni, Raffaella Canali, Claudio Pintus, Gaia Busato

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Hamartomatous polyps of Peutz-Jeghers are mostly found in patients affected by Peutz-Jeghers syndrome (PJS), but they can be rarely encountered in the general population. It is unclear whether a solitary Peutz-Jeghers polyp (PJP) is an incomplete form of PJS or a separate entity. We report a case of solitary PJP in a paediatric patient in whom the other features of PJS were absent. The patient underwent laparotomy due to small bowel intussusception secondary to an ileac polyp. Histological examination showed the characteristic features of PJP, but the patient did not fulfill the WHO criteria for PJS diagnosis (negative family history for PJS and absence of mucocutaneous pigmentation); moreover analysis of the STK11/LKB1 gene did not reveal any genomic abnormality. The clinical and investigative findings in our case suggest that the solitary PJP can be considered a different clinical entity from PJS.
Original languageEnglish
Pages (from-to)452-456
Number of pages5
JournalCase Reports in Gastroenterology
Volume4
DOIs
Publication statusPublished - 2010

Keywords

  • peutz jeghers

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