Introduction. Bloom syndrome is a rare, autosomal recessive, chromosomal instability disorder caused by mutations in the BLM gene that increase the risk of developing neoplasias, particularly lymphomas and leukemias, at an early age. Case presentation. Case 1 was a 10-year-old Brazilian girl, the third child of a non-consanguineous non-Jewish family, who was born at 36 weeks of gestation and presented with severe intrauterine growth restriction. She had Bloom syndrome and was diagnosed with a unilateral Wilms' tumor at the age of 3.5 years. She responded well to oncological treatment and has remained disease-free for the last 17 years. Case 2 was a 2-year-old Brazilian girl born to non-Jewish first-degree cousins. Her gestation was marked by intrauterine growth restriction. She had Bloom syndrome; a unilateral stage II Wilms' tumor was diagnosed at the age of 4 years after the evaluation of a sudden onset abdominal mass. Surgical removal, neoadjuvant chemotherapy and radiotherapy were not sufficient to control the neoplasia. The tumor recurred after 8 months and she died from clinical complications. Conclusion: Our study reports the importance of rapid diagnostics and clinical follow-up of these patients. © 2013Moreira et al.; licensee BioMed Central Ltd.
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Moreira, M. B., Quaio, C. R. D., Zandoná-Teixeira, A. C., Novo-Filho, G. M., Zanardo, E. A., Kulikowski, L. D., & Kim, C. A. (2013). Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: Two case reports. Journal of Medical Case Reports, 7. https://doi.org/10.1186/1752-1947-7-284
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