Publicación: Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease
Portada
Citas bibliográficas
Código QR
Autor corporativo
Recolector de datos
Otros/Desconocido
Director audiovisual
Editor/Compilador
Editores
Tipo de Material
Fecha
Cita bibliográfica
Título de serie/ reporte/ volumen/ colección
Es Parte de
Resumen en inglés
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder characterized by the reduced or absent activity of glucocerebrosidase. The disease is split into three types. Type 3, or chronic neuronopathic GD, manifests with heterogeneous clinical presentations. Skeletal manifestations of GD can include abnormal bone remodeling resulting in the characteristic Erlenmeyer flask deformities, painful bone crises, osteopenia, and an increased frequency of fractures. Osteolytic lesions can also occur but are rare and tend to be large, expanding intramedullary lesions with cortical thinning. We present two adolescent patients with type 3 GD who developed bilateral symmetrical cortical osteolytic lesions. The lesions in both cases demonstrate predominant cortical scalloping with fairly indolent growth. Neither patient manifests some of the more common bony manifestations of GD—bone crises or osteonecrosis. These atypical and unique skeletal findings in two unrelated probands with type 3 GD further expand the extent of phenotypic variation encountered in this single gene disorder.