Abstract
IntroductionBloom 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 presentationCase 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.ConclusionOur study reports the importance of rapid diagnostics and clinical follow-up of these patients.
Highlights
Bloom syndrome is a rare, autosomal recessive, chromosomal instability disorder caused by mutations in the BLM gene that increase the risk of developing neoplasias, 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
Bloom syndrome (BS; Online Mendelian Inheritance in Man database, number 210900) [1] is a rare, autosomal recessive, chromosomal instability disorder [2] caused by mutations in the BLM gene, which encodes a product necessary for the maintenance of genomic stability [3]
The prominent clinical features associated with BS include severe growth deficiency, sunsensitive facial erythema, immunological deficiency and a remarkably increased risk of developing neoplasias of various types at a younger age than expected in the general population; the neoplasias are the main cause of death among affected individuals [4,5]
Summary
Bloom syndrome (BS; Online Mendelian Inheritance in Man database, number 210900) [1] is a rare, autosomal recessive, chromosomal instability disorder [2] caused by mutations in the BLM gene, which encodes a product necessary for the maintenance of genomic stability [3]. Among the 265 cases of BS reported in the Bloom’s Syndrome Registry (which includes 222 families), 122 developed some type of neoplasia during their lives; leukemias, lymphomas and carcinomas were common, but several other cancers have been reported [4,5] These patients all present a remarkably increased frequency of sister chromatid exchange (SCE). The first genetic evaluation occurred at age 10 when a physical examination revealed features characteristic of BS, including facial features (elongated face, prominent nose, prominent ears, malar hypoplasia, and thin upper vermilion), microcephaly, nose telangiectasias, hypomelanotic macules in her upper limbs and clinodactyly of her bilateral fifth fingers Her anthropometric measurements were all below the fifth percentile (weight (W) 15.9kg, height (H) 116cm, and occipital-frontal circumference (OFC) 46cm; Centers for Disease Control and Prevention growth charts, National Center for Health Statistics, USA), and she had developed learning disabilities.
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