Korean J Gastrointest Endosc > Volume 31(5); 2005 > Article
Korean Journal of Gastrointestinal Endoscopy 2005;31(5): 343-347.
제1형 신경섬유종증 환자에서 맹장의 신경섬유종에 의해 발생한 대장중첩증 1예
아주대학교 의과대학 소화기내과학교실, *외과학교실, 병리학교실, 진단방사선과학교실
A Case of Adult Intussusception of the Colon Caused by Cecal Neurofibroma in a Patient with Neurofibromatosis Type 1
Jun Hwan Yoo, M.D., In Ho Jung, M.D.*, Young Bae Kim, M.D., Jai Keun Kim, M.D., Ju Sung Sun, M.D., Seung Jun Choi, M.D., Joon Hyuck Choi, M.D., Kee Myung Lee, M.D., Ki Baik Hahm, M.D. and Jin Hong Kim, M.D.
Departments of Gastroenterology, *General Surgery, Pathology and Diagnostic Radiology, Ajou University College of Medicine, Suwon, Korea
Neurofibromatosis type 1 (NF-1) is an autosomal dominant hereditary disorder and it is characterized by neurofibromas and cafe-au-lait spots on the skin. NF-1 affects the gastrointestinal tract in 25% of the cases and the stomach and jejunum are the commonly involved sites. Yet the occurrence of colon NF is very unusual. Several cases of colon involvement of NF-1 have been reported on and their clinical manifestations were massive or occult bleeding, constipation and asymptomatic rectal or perianal nodules. There was a reported case of colon-to-colon intussusception via an isolated colonic neurofibroma. However, the best of our knowledge, there has been no reported case of colon- to-colon intussusception induced by NF-1. We encountered a case of NF-1 involving the cecum that resulted in colon- to-colon intussusception and secondary acute appendicitis. The patient showed the typical skin lesions and bony abnormalities of NF. We report on this case with a review of the literature. (Korean J Gastrointest Endosc 2005;31: 343⁣347)
Key Words: Neurofibromatosis type 1, Adult intussusception, Colon
주요어: 제1형 신경섬유종증, 성인 장중첩증, 대장
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