Bilateral Femoral Osteolytic Lesions in a Patient with Type 3 Gaucher Disease.
作者信息
Teefe Enock, Kim Jenny, Lopez Grisel, Sidransky Ellen
机构信息
Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
出版信息
Mol Genet Metab Rep. 2015 Dec 1;5:107-109. doi: 10.1016/j.ymgmr.2015.10.008.
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.
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