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

Gregory M. Pastores; George Hermann; Karen I. Norton; Mordechai Lorberboym; Robert J. Desnick

doi:10.1007/s002560050120

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

Gregory M. Pastores, George Hermann, Karen I. Norton, Mordechai Lorberboym, Robert J. Desnick

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

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.

Original language	English
Pages (from-to)	485-488
Number of pages	4
Journal	Skeletal Radiology
Volume	25
Issue number	5
DOIs	https://doi.org/10.1007/s002560050120
State	Published - 1996

Keywords

Bone marrow scan
CT scan
Enzyme replacement therapy
Gaucher disease

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10.1007/s002560050120

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title = "Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy",

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.",

keywords = "Bone marrow scan, CT scan, Enzyme replacement therapy, Gaucher disease",

author = "Pastores, {Gregory M.} and George Hermann and Norton, {Karen I.} and Mordechai Lorberboym and Desnick, {Robert J.}",

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T1 - Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy

AU - Pastores, Gregory M.

AU - Hermann, George

AU - Norton, Karen I.

AU - Lorberboym, Mordechai

AU - Desnick, Robert J.

PY - 1996

Y1 - 1996

N2 - 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.

AB - 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.

KW - Bone marrow scan

KW - CT scan

KW - Enzyme replacement therapy

KW - Gaucher disease

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JO - Skeletal Radiology

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IS - 5

ER -

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

Abstract

Keywords

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