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Correlation of MRI-Based Bone Marrow Burden Score with Genotype and Spleen Status in Gaucher's Disease

Robert F. DeMayo1,2, Andrew H. Haims1, Matthew C. McRae1, Ruhua Yang3 and Pramod K. Mistry3

1 Department of Radiology, Yale University School of Medicine, 333 Cedar St., PO Box 208042, New Haven, CT 06520-8042.
2 Present address: Oregon Health & Science University, Portland, OR 97239.
3 Section of Pediatric Hepatology and Gastroenterology, Yale University School of Medicine, New Haven, CT.


Figure 1
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  		Fig. 1 —28-year-old woman with Gaucher's disease. Sagittal T1-weighted MR image shows normal bone marrow signal intensity is high in relation to nondiseased intervertebral disk signal intensity. Findings on STIR image (not shown) also were normal. Bone marrow burden score is 0.

 

Figure 2
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  		Fig. 2 —32-year-old woman with Gaucher's disease. Sagittal T1-weighted MR image shows patchy bone marrow infiltration, which is hypointense in relation to nondiseased intervertebral disk signal intensity with preservation of fat around basivertebral vein. Findings on STIR image were normal (not shown). Bone marrow burden score is 4 (3 for intensity, 1 for distribution).

 

Figure 3
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  		Fig. 3 —55-year-old woman with Gaucher's disease. Sagittal T1-weighted MR image shows slightly hypointense bone marrow signal in diffuse distribution with absence of fat around basivertebral vein. Findings on STIR image were normal (not shown). Bone marrow burden score is 5 (2 for intensity, 3 for distribution).

 

Figure 4
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  		Fig. 4A —49-year-old man with Gaucher's disease. Sagittal T1-weighted (A) and STIR (B) MR images show bone marrow infiltration, infarction, and fractures. Patchy area of low signal intensity is evident in A, as are absence of fat around basivertebral vein and high signal intensity in B. Bone marrow burden score is 7 (5 for intensity, 2 for distribution).

 

Figure 5
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  		Fig. 4B —49-year-old man with Gaucher's disease. Sagittal T1-weighted (A) and STIR (B) MR images show bone marrow infiltration, infarction, and fractures. Patchy area of low signal intensity is evident in A, as are absence of fat around basivertebral vein and high signal intensity in B. Bone marrow burden score is 7 (5 for intensity, 2 for distribution).

 

Figure 6
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  		Fig. 5A —41-year-old man with Gaucher's disease. Coronal T1-weighted (A) and STIR (B) MR images show minimal bone marrow infiltration with slightly low (A) and slightly high (B) signal intensity in both femurs with diaphyseal distribution. Bone marrow burden score is 3 (2 for intensity, 1 for distribution).

 

Figure 7
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  		Fig. 5B —41-year-old man with Gaucher's disease. Coronal T1-weighted (A) and STIR (B) MR images show minimal bone marrow infiltration with slightly low (A) and slightly high (B) signal intensity in both femurs with diaphyseal distribution. Bone marrow burden score is 3 (2 for intensity, 1 for distribution).

 

Figure 8
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  		Fig. 6A —70-year-old man with Gaucher's disease. Coronal T1-weighted (A) and STIR (B) MR images show low (A) and high (B) signal intensity in diaphyseal distribution in right femur. Bone marrow burden score is 5 (4 for intensity, 1 for distribution).

 

Figure 9
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  		Fig. 6B —70-year-old man with Gaucher's disease. Coronal T1-weighted (A) and STIR (B) MR images show low (A) and high (B) signal intensity in diaphyseal distribution in right femur. Bone marrow burden score is 5 (4 for intensity, 1 for distribution).

 

Figure 10
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  		Fig. 7A —41-year-old woman with Gaucher's disease. Coronal T1-weighted (A) and STIR (B) MR images show low (A) and high (B) signal intensity in diaphyseal distribution in left femur. Bone marrow burden score is 6 (5 for intensity, 1 for distribution).

 

Figure 11
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  		Fig. 7B —41-year-old woman with Gaucher's disease. Coronal T1-weighted (A) and STIR (B) MR images show low (A) and high (B) signal intensity in diaphyseal distribution in left femur. Bone marrow burden score is 6 (5 for intensity, 1 for distribution).

 

Figure 12
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  		Fig. 8 —Graph shows relation between bone marrow burden and genotype. White indicates lumbar spine; gray, femurs; black, overall.

 

Figure 13
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  		Fig. 9 —Graph shows relation between bone marrow burden and genotype for patients with homozygous (white) and those with heterozygous (black) N370S allele.

 

Figure 14
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  		Fig. 10A —29-year-old woman with Gaucher's disease. Coronal T1-weighted MR image of lower part of femurs shows low signal intensity in right distal femoral epiphysis consistent with infarction.

 

Figure 15
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  		Fig. 10B —29-year-old woman with Gaucher's disease. Coronal T1-weighted MR image of upper part of femurs shows normal signal intensity in proximal femoral epiphyses. Pattern deviates from characteristic progression of bone marrow pathologic changes in Gaucher’s disease, in which proximal femoral epiphyseal involvement precedes distal epiphyseal involvement.

 

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