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Korean J Gastroenterol. 2015 Aug;66(2):106-110. Korean. Case Reports.
Lee KS , Lee SH , Myong NH .
Department of Pediatrics, Dankook University College of Medicine, Cheonan, Korea.
Department of Pathology, Dankook University College of Medicine, Cheonan, Korea.

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.

Copyright © 2019. Korean Association of Medical Journal Editors.