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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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1
Department of Internal Medicine and Infectious Diseases, University Hospital F Hached, 4000 Sousse, Tunisia. elhem.benjazia@rns.tn

Abstract

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.

PMID:
21778134
DOI:
10.1016/j.clinre.2011.06.001
[Indexed for MEDLINE]
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