Korean Journal of Gastrointestinal Endoscopy  2005;31(5):343-347

A Case of Adult Intussusception of the Colon Caused by Cecal Neurofibroma in a Patient with Neurofibromatosis Type 1.

Jun Hwan YOO 1 ; In Ho JUNG ; Young Bae KIM ; Jai Keun KIM ; Ju Sung SUN ; Seung Jun CHOI ; Joon Hyuck CHOI ; Kee Myung LEE ; Ki Baik HAHM ; Jin Hong KIM

Affiliations

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Keywords

Neurofibromatosis type 1; Adult intussusception; Colon

Country

Republic of Korea

Language

Korean

Abstract

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.