Gaucher’s Disease

Gaucher’s disease spine

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 midline sagittal T2-weighted MR image shows mottled heterogeneous intermediate-to-low signal in all vertebral bodies, consistent with infiltration. There is also a compression fracture of T12 vertebral body with an associated focal kyphosis.

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 signal representing Gaucher cell accumulations, and evidence of bone infarcts.

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

Credit: Dr Laughlin Dawes