- 2024, Volume 55 - Number 3
- Published: July 10, 2024
Recurrent infections and short stature — Listening may be the key. A Bloom syndrome case report
Margarida Almendra 1, Ana I. Cordeiro 2, Rosa Pina 3, Catarina Martins 4, Conceição Neves 5, João Farela-Neves 5
1 Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, EPE, Lisbon, Portugal; 2 Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, EPE;; NOVA Medical School|Faculdade de Ciências Médicas, Universidade NOVA de Lisboa; Comprehensive Health Research Centre (CHRC), NOVA Medical School|Faculdade de Ciências Médicas, Universidade NOVA de Lisboa. Lisbon, Portugal; 3 Endocrinology Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, EPE, Lisbon, Portugal; 4 NOVA Medical School|Faculdade de Ciências Médicas, Universidade NOVA de Lisboa; Comprehensive Health Research Centre (CHRC), NOVA Medical School|Faculdade de Ciências Médicas, Universidade NOVA de Lisboa. Lisbon, Portugal; 5 Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, EPE; Comprehensive Health Research Centre (CHRC), NOVA Medical School|Faculdade de Ciências Médicas, Universidade NOVA de Lisboa. Lisbon, Portugal
Margarida Almendra, Ana I. Cordeiro, Rosa Pina, Catarina Martins, Conceição Neves, João Farela-Neves
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Ana I. Cordeiro, Email not available
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.
