1 research outputs found
Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease
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