Gaucher’s Disease – Bone Infarct

gaucher’s disease

This 58 year-old male patient presented with a known history of Gaucher’s disease. MRI follow-up of liver and skeletal system was performed. The coronal STIR MR image shows a geographic area of low signal in the left iliac bone, surrounded by a serpiginous high signal rim (click image for arrows). This is a characteristic appearance of a bone infarct. There is also high signal within the right iliac bone. Note the normal signal of the sacrum. The patient had multiple other bone infarcts in the long bones of the lower limbs, as well as focal areas of high signal.

Gaucher’s disease is a congenital storage disorder with accumulation of glucocerebroside in the reticuloendothelial system and bone marrow. The majority of patients present in childhood or as young adults – type I. Types II and III are rare, occur in neonates and young children, and carry a generally poor porgnosis. Bone marrow expansion gives rise to Erlenmeyer-flask deformity of the distal femur in 50%. Ischaemic necrosis of the femoral head is a common complication. Bone infarcts in the metadiaphyseal regions of long bones also occur. Bone density is decreased generally, predisposing to vertebral compression fracture. Localised lytic bone lesions may occasionally occur, which represent focal accumulations of Gaucher cells. Patients have an increased incidence of osteomyelitis. Types I and III Gaucher’s disease may be treated by enzyme replacement.

MRI findings include generalised low marrow signal on T1-weighted scans, focal areas of low T1 signal representing Gaucher cell accumulations, and evidence of bone infarcts.

Reference: Sartoris DJ. Musculoskeletal Imaging: The Requisites. Mosby 1996.

Credit: Dr Laughlin Dawes