Gaucher disease - adult

Case contributed by Dr Patsy Robertson

Presentation

Type I Gaucher disease for skeletal staging

Patient Data

Age: 50
Gender: Female
MRI

Patient was scanned using the Gaucher protocol: Sagittal T1w and T2w images of the lumbar spine with coronal T1w and STIR images of the femur.

Lumbar Spine : There is a homogeneous pattern of reduced signal through the lumbar and lower thoracic vertebra and the sacrum with sparing of the fat around the basivertebral veins. Marrow is quite markedly reduced in signal with respect to the disc on the T2 weighted images and is isodense to disc on T1 weighted images.  Modic type 1 degenerative changes noted on either side of the L5/S1 disc. No abnormal T2 signal elsewhere and no evidence of infarction.

Femur :  An extensive pattern of signal abnormality through the femur is mildly heterogeneous. Signal abnormality extends to involve the capital femoral epiphyses and to a lesser extent the epiphyses of the greater trochanters bilaterally.  There is also partial involvement of the distal femoral epiphyses. Patchy T2 signal is more extensive on the left than the right.  At the margins of the images there is also increased the two signal within the proximal tibial diaphyses bilaterally. No evidence of osteonecrosis.

Conclusion: Extensive signal abnormality consistent with Gaucher infiltration.  Of concern is the involvement of the proximal and distal femoral epiphyses which means she may be at risk of infarction at these sites.  Likely early infarction through the diaphyses associated with increased T2 signal on the left.

Lumbar bone marrow burden score 5, femoral bone marrow burden score 8

MRI

Follow-up MRI after 12 months of fortnightly intravenous enzyme replacement therapy

Lumbar Spine :  Marrow signal in the lumbar spine is now within normal limits. Degenerative  Modic type 1 changes on either side of the L5/S1 disc are unchanged. No abnormal T2 signal elsewhere and no evidence of infarction.

Femur :  Signal has improved through both femora since the previous examination,  although a mild homogeneous pattern of marrow infiltration persists throughout including the proximal and distal epiphyses.  Tiny diaphyseal medullary infarcts are seen on the left.  In the distal metaphysis on both  sides there is oedema signal which does suggest developing infarcts. T2  signal in the femoral diaphyses has largely resolved.

Conclusion : Resolution of changes in the lumbar spine.  Improvement in the femora except in the distal femoral metaphyses were there is a new bone marrow oedema  pattern, raising the possibility of developing infarcts.

Lumbar bone marrow burden score 0, femoral bone marrow burden score 5

Case Discussion

The diagnosis of Gaucher disease is made by laboratory testing for glucocerebrosidase activity in leukocytes and the relevant genetic defect.

MRI is the main stay of staging since the findings on plain films of osteonecrosis, osteoarthritis, deformity and fractures represent late stage disease.

Quantitative chemical shift imaging (QCSI) is the most sensitive method for determining the extent of bone marrow involvement but is only available at relatively few centers. Several semi-quantitative scoring systems have been developed, namely the Rosenthal staging system, the Dusseldorf score, the Terk classification, the vertebral disc ratio and the bone marrow burden score.

Our preference is for the bone marrow burden score which from T1 and T2 weighted images assigns a score of 8 to the lumbar spine and a score of 8 to the femur depending on the severity and extent of involvement. A patient is thus given a score out of 16.

In this case patient was given a score of 13 on the first examination Score improved to 5/16 after 12 months of enzyme replacement therapy.

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Case information

rID: 21944
Case created: 28th Feb 2013
Last edited: 4th Sep 2016
Tags: gaucher, mri
Inclusion in quiz mode: Included

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