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

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 neu...

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Bibliographic Details
Published in:Turkish journal of colorectal disease 2020-06, Vol.30 (2), p.147-150
Main Authors: Bostancı, Mustafa Taner, Yılmaz, İbrahim, Saydam, Mehmet, Seki, Ahmet
Format: Article
Language:English
Subjects:
Anemia
Asymptomatic
Case reports
Colon
Colonoscopy
Conflicts of interest
Endoscopy
Genetic disorders
Genetic testing
Hospitals
Intestinal obstruction
juvenile colonic polyp
Laparoscopy
Mutation
neurofibromatosis type 1
Neurological disorders
Pathogenesis
Patients
Polyps
Signal transduction
Surgery
Tıp
Tumors
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Summary: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.
ISSN:2536-4898
2536-4901
DOI:10.4274/tjcd.galenos.2020.2019-11-11