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; the Erlenmeyer flask deformity, bone crises, or osteonecrosis. These atypical and unique skeletal findings in two unrelated probands with type 3 GD further expands the extent of phenotypic variation encountered in this single gene disorder.

Introducción. La EG es una enfermedad de depósito lisosomal causada por la deficiencia de la enzima β-glucosidasa con la consecuente acumulación de productos de degradación intracelular y daño celular. La clínica en los niños es: esplenomegalia, anemia, trombocitopenia, dolores óseos, retardo en el crecimiento. El tratamiento con terapia de reemplazo enzimático muestra adecuada respuesta en los pacientes.