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Imaging and quantifying skeletal involvement in Gaucher disease

M Maas, MD1, L W Poll, MD2 and M R Terk, MD3

1 Department of Radiology, Academic Medical Centre, Amsterdam, The Netherlands, 2 Institute of Diagnostic Radiology, Heinrich Heine University, Düsseldorf, Germany and 3 Keck School of Medicine, University of Southern California, USA





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Figure 1. (Continued from previous page.) (a) MRI of a normal volunteer. T1-weighted images (TR/TE 650/17) on the left and gradient echo T2*-weighted images TR/TE (550/15, flip angle 20) on the right. (b), (d) and (e) obtained with the same technique are of Gaucher disease patients with progressively more severe disease. (c) shows T1- and T2-weighted turbo spin echo images of the tibae of a Gaucher disease patient.

 


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Figure 2. Colour representation of the fat content of lumbar spine measured by QCSI. (a) healthy individual; (b) patient with Gaucher disease with mild bone marrow involvement; and (c) patient with Gaucher disease with severe bone marrow involvement.

 


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Figure 3. Percentage fat content in lumbar spine marrow, measured by QCSI in 31 patients with Gaucher disease before therapy (Academic Medical Centre).

 


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Figure 4. Mean bone mineral density at different anatomical sites in patients with Gaucher disease, measured by dual-energy X-ray absorptiometry. Reproduced from J Bone Miner Res 1996;11:1801–7 [2] with permission of the American Society for Bone and Mineral Research.

 


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Figure 5. The Düsseldorf Gaucher score (modified "Rosenthal-score" [15]); anatomical score of the lower extremities for quantification and localization of bone marrow abnormalities.

 


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Figure 6. Coronal T1-weighted spin echo images of the lower extremities showing morphology type A ((a) and (b)) and B ((c) and (d)).

 





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