DOI: 10.36347/sjmcr.2019.v07i07.008

Pages: 428-430

Bloom syndrome is an immune-compromised disease with autosomal recessive inheritance secondary to BLM gene mutation with a high risk of malignant degeneration. The stunting delay and the predisposition to cancers of different histological types and multiple localizations are constant. The diagnosis may be unrecognized until the onset of complications and is essentially based on the caryotype. No treatment is known to date and the long-term prognosis is poor with a mean age of 21 years.