title: Bilateral Femoral Osteolytic Lesions in a Patient with Type 3 Gaucher Disease.
abstract: Type 3 Gaucher disease (GD) manifests with hematologic, neurological and skeletal involvement including Erlenmeyer flask bone deformities, osteopenia, painful bone crises and fractures. We describe bilateral symmetric osteolytic lesions in a 22 year old with type 3 GD, chronically treated with enzyme replacement therapy. These atypical bone findings, previously reported in two similar patients with type 3 GD, expand our understanding of the evolving natural history of GD in the post-treatment era.
authors.affiliation: Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
authors.forename: Enock
authors.initials: E
authors.lastname: Teefe
authors.affiliation: Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
authors.forename: Jenny
authors.initials: J
authors.lastname: Kim
authors.affiliation: Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
authors.forename: Grisel
authors.initials: G
authors.lastname: Lopez
authors.affiliation: Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
authors.forename: Ellen
authors.initials: E
authors.lastname: Sidransky