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

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.