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Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy

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Abstract

 A 9-year-old patient presented with an acute onset of pain of the right femur showing destructive changes with periosteal elevation mimicking osteomyelitis. Technetium-99m sulfur colloid (99mTc SC) marrow scan revealed lack of uptake in the right femoral head and the entire shaft of the right femur. Eight months following enzyme replacement therapy, radiography showed almost complete reconstitution of the femoral shaft, and 99mTc SC marrow scan uptake returned to normal.

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Authors and Affiliations

  1. Department of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, New York, USA, , , , , , US

    Gregory M. Pastores & Robert J. Desnick

  2. Department of Radiology, Mount Sinai School of Medicine, Box 1234, One Gustave L. Levy Place, New York, NY 10029-6574, USA, , , , , , US

    G. Hermann & Karen I. Norton

  3. Division of Nuclear Medicine, Mount Sinai School of Medicine, New York, New York, USA, , , , , , US

    Mordechai Lorberboym

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  1. Gregory M. Pastores
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  2. G. Hermann
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  3. Karen I. Norton
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  4. Mordechai Lorberboym
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  5. Robert J. Desnick
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Pastores, G., Hermann, G., Norton, K. et al. Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy. Skeletal Radiol 25, 485–488 (1996). https://doi.org/10.1007/s002560050120

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  • DOI: https://doi.org/10.1007/s002560050120

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