Peutz-Jeghers Syndrome with Adenomatous Change in a Fifteen-month-old Boy.
10.4166/kjg.2015.66.2.106
- Author:
Kun Song LEE
1
;
Seung Ho LEE
;
Na Hye MYONG
Author Information
1. Department of Pediatrics, Dankook University College of Medicine, Cheonan, Korea. pdlks@dankook.ac.kr
- Publication Type:Case Reports ; English Abstract
- Keywords:
Peutz-Jeghers syndrome;
Child;
Intestinal polyps
- MeSH:
Adenoma/*diagnosis/pathology;
Base Sequence;
Colonoscopy;
Heterozygote;
Humans;
Infant;
Male;
Peutz-Jeghers Syndrome/*diagnosis/genetics/pathology;
Polymorphism, Single Nucleotide;
Polyps/pathology;
Protein-Serine-Threonine Kinases/chemistry/genetics
- From:The Korean Journal of Gastroenterology
2015;66(2):106-110
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Peutz-Jeghers syndrome (PJS) is a very rare genetic disorder. PJS carries a high risk of developing gastrointestinal (GI) cancer or non-GI cancer with advancing years. However, major symptoms of PJS in childhood are obstruction, intussusception, and bleeding from hamartomatous intestinal polyps which in majority of cases are not related to cancer. Generally, first GI symptom develops by 20 years in one half of children diagnosed with PJS. Children under two years of age who had PJS polyp-related intestinal symptoms are rare, and there have been no published report on intestinal carcinoma development, adenomatous change or dysplasia of polyps in Korean children with PJS. Recently, the authors have experienced a case PJS with adenomatous polyp change in a 15-month-old boy who had STK11 gene mutation. Therefore, early evaluation could be necessary and considered in children with PJS.
