Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease

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 23 year old with type 3 GD, chronically treated with enzym...

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Detalles Bibliográficos
Autores principales: Teefe, Enock, Kim, Jenny, Lopez, Grisel, Sidransky, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683618/
https://www.ncbi.nlm.nih.gov/pubmed/26693402
http://dx.doi.org/10.1016/j.ymgmr.2015.10.008
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author Teefe, Enock
Kim, Jenny
Lopez, Grisel
Sidransky, Ellen
author_facet Teefe, Enock
Kim, Jenny
Lopez, Grisel
Sidransky, Ellen
author_sort Teefe, Enock
collection PubMed
description 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 23 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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spelling pubmed-46836182016-05-19 Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease Teefe, Enock Kim, Jenny Lopez, Grisel Sidransky, Ellen Mol Genet Metab Rep Case Report 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 23 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. Elsevier 2015-11-09 /pmc/articles/PMC4683618/ /pubmed/26693402 http://dx.doi.org/10.1016/j.ymgmr.2015.10.008 Text en © 2015 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Teefe, Enock
Kim, Jenny
Lopez, Grisel
Sidransky, Ellen
Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease
title Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease
title_full Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease
title_fullStr Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease
title_full_unstemmed Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease
title_short Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease
title_sort bilateral femoral osteolytic lesions in a patient with type 3 gaucher disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683618/
https://www.ncbi.nlm.nih.gov/pubmed/26693402
http://dx.doi.org/10.1016/j.ymgmr.2015.10.008
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