Recurrent infections and short stature — listening may be the key. A Bloom syndrome case report

Abstract

Introduction: Bloom syndrome is a rare autosomal recessive disorder characterized by chromosomal instability caused by mutations in the BLM gene that increase the risk of developing neoplasia, particularly at an early age. Bloom syndrome is typically characterized by short stature, photosensitivity, telangiectatic erythema, learning difficulties, immunodeficiency, and malignancy. Case report: We report a case of an adolescent girl with short stature and recurrent infections, who does not present typical erythematous sun-sensitive skin lesions to the face and whose high-pitched voice led to the diagnosis of BS caused by a novel L753X mutation. Discussion: To date, she has not presented with any malignancy or characteristic malar rash.

Keywords

• Bloom syndrome. Chromosomal instability. Sister chromatid exchange. Novel mutation. Case report.