1 - Serviço de Radiologia, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa;
2 - Serviço de Radiologia, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa;
3 - Serviço de Radiologia, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa;
4 - Serviço de Radiologia, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa;
- Publicação sob a forma de poster electrónico no congresso da European Society of Musculoskeletal Radiology 2021 (10/06/2021-12/06/2021)
Resumo:
Introduction and objectives: To describe the main skeletal alterations found in patients with Gaucher’s disease (GD); to review the techniques used in the radiological assessment of these patients; highlight the contribution of radiological imaging to the final diagnosis.
Materials and methods: Bibliographical research, review and selection of the most relevant articles about the radiological assessment of the skeletal alterations found in patients with GD. Selection of original sample images of radiological studies of patients with GD treated in a paediatric university hospital.
Results: GD is an autosomal recessive deficiency of glucocerebrosidase, leading to the accumulation of glucosylceramide in the lysosomes of the reticuloendothelial system in the bone marrow, spleen and liver. About 30% of patients present with early bone alterations as the main sign of the disease, resulting from high rates of bone turnover and failure of bone remodelling. Associated skeletal findings include the typical Erlenmeyer flask deformity of the distal femurs, femoral head avascular necrosis and vertebral endplate avascular necrosis, as well as osteopenia, osteosclerosis and bone marrow infiltration. Skeletal involvement may be focal, local or generalized. Imaging assessment usually starts with conventional radiography and plays a crucial role in the initial approach to patients with GD.
Conclusions: Paediatric patients with GD commonly experience bone pain and impaired mobility as the main presenting signs of the disease. The radiological assessment of their skeletal manifestations is, sometimes, the first clue to the diagnosis.
Palavras Chave: Congénito, Gaucher, Musculo-esquelético, Pediatria, Radiologia