Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease
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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.
KeywordsType 3 Gaucher disease Osteolytic Genotype L444P/L444P Glucocerebrosidase Gaucher cells
This research was supported by the Division of Intramural Research of the National Human Genome Research Institute, and the National Institutes of Health. The authors wish to thank Dr. Adriana Linares of the Genzyme Corporation for putting the physicians of the two patients in contact with each other, Dr. Grisel Lopez and Karla Garcia for help with translation, Michael Melendez for help with image editing, and Drs. Michael Collins, Les Folio, and Edward McCarthy for helpful discussions.
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