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Clin Res Hepatol Gastroenterol. 2011 Oct;35(10):682-4. doi: 10.1016/j.clinre.2011.06.001. Epub 2011 Jul 22.

Bloom syndrome complicated by colonic cancer in a young Tunisian woman.

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Department of Internal Medicine and Infectious Diseases, University Hospital F Hached, 4000 Sousse, Tunisia.


Bloom syndrome (BS) is an autosomal recessive inherited disorder characterized by chromosomal instability leading to a high risk of cancer at an early age. The diagnosis should be considered in patients with short stature, photosensitivity, variable degrees of immunodeficiency, and hypogonadism. We report a 19-year-old woman, with history of dysmorphic features and recurrent infections. The diagnosis of bloom syndrome was made and confirmed cytogenetically at the age of 14 years. She developed a colon cancer revealed by venous thrombosis and anemia. She died after 15 days of the cancer diagnosis. This is the first registrated case of confirmed Bloom syndrome in Tunisian population.

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