Objective: To evaluate the usefulness of magnetic resonance (MR) for investigating bone involvement in Gaucher disease type 1 (GD).
Methods: Ten adult patients with the diagnosis of GD type 1 were studied. Weighted sequences were performed in spin-echo (SE) T1 and T2 of 4 body areas: spine, pelvis, hips, and femurs. The patterns of bone infiltration proposed for the study were: homogeneous infiltration (H), non-homogeneous infiltration (NH), and normality (N). Four patients were receiving enzyme replacement therapy.
Results: All patients (100%) showed changes associated with infiltration with Gaucher cells. The distribution of patterns was as follows: the homogeneous pattern predominated (60 and 50%, respectively) in spine (6H/2NH/2N) and pelvis (5H/3NH/2N), whereas the non-homogeneous pattern predominated (60% and 80%, respectively) in hips (1H/6NH/3N) and femurs (1H/8NH/1N). As bone complications two cases of hip avascular necrosis were noted, one of them with bilateral involvement, one case with infarcts in femur diaphysis and other case with medullar edema in a bone crisis.
Conclusion: MR is an excellent technique for detecting medullar bone infiltration and complications in GD type 1.