15개월 남아에서 선종성 변형을 보인 포이츠-제거스 증후군

• Published in: The Korean journal of gastroenterology Vol. 66; no. 2; pp. 106 - 110
• Main Authors: 이건송, 교신저자, Kun Song Lee, 이승호, Seung Ho Lee, 명나혜, Na Hye Myong
• Format: Journal Article
• Language: Korean
• Published: 대한소화기학회 31.08.2015
• Subjects: Child. Intestinal polyps; Peutz-Jeghers syndrome; 내과학
• ISSN: 1598-9992; 2233-6869

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. (Korean J Gastroenterol 2015;66:106-110)