分子遺伝医学

A Case Report of Bloom Syndrome Complicated by Colonic Cancer Due to Polyposis Degeneration: The Importance of Colorectal Cancer Screening

Abstract

Chaouch MA, Nacef K, Ghannouchi M, Khalifa MB, Chaouch A and Boudokhane M

Bloom syndrome is a rare autosomal recessive disorder that attributes a chromosomal instability leading to a high risk of cancer at an early age. We report a case of Bloom syndrome in a 30-year-old man with colonic cancer due to polyposis degeneration. The diagnosis of BS was suspected at the age of five years behind growth retardation, facial sun-sensitive telangiectatic erythema and repeated respiratory infections. The patient underwent a total colectomy. The patient recovered without complication and is currently being followed with endoscopic surveillance of the rectal stump. We present a case report about CRC diagnosed in a Bloom syndrome patient at an early age to suggest the necessity of CRC screening for these patients. Then, we recommend the necessity of doing at least annual examinations and colonoscopy as well as a rapid and thorough investigation of any new symptoms.