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.