Solitary Juvenile Colonic Polyp Presenting Anaemia in Patients with Neurofibromatosis Type 1: A Case Report

Abstract

Gastrointestinal lesions are seen in 10-25% of NF1 patients, but generally they are underestimated by physicians because of their asymptomatic course. A thirtythree-year old male patient reffered to our hospital for anemia evaluation. NF1 physical findings; Lisch Nodules, Cafe u lait macules and neurofibromas were present. Colonoscopy reveled a 5x3x2 cm sized hemorrhagicpolyp in proximal transvers colon and laparoscopic right hemicolectomy was performed. Histopathological diagnosis was juvenile polyp with low-grade dysplasia. Molecular genetic testing detected NF1 gene mutation. Upper and lower gastrointestinal endoscopy should be performed for all NF1 patients to determine gastrointestinal involvement.

Keywords

• anemia
• juvenile colonic polyp
• neurofibromatosis type 1