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Skeletal aspects of Gaucher disease: a review

¹ Children's Foundation Research Hospital, Cincinnati, Ohio, USA, ² Department of Radiology, Musculoskeletal MRI Section, Hospital Miguel Servet, Zaragoza, Spain, ³ University Gaucher Research Foundation Inc., University Gaucher Treatment Center, Tamarac, Florida, USA and ⁴ Burlo Garofolo Institute, Trieste, Italy

View larger version (109K): [in a new window]   Figure 1. Magnetic resonance image of a bone crisis in Gaucher disease, with a high T2-weighted signal in the bone marrow of the left femoral head and neck, indicating oedema.

View larger version (83K): [in a new window]   Figure 2. Plain radiographs of skeletal complications in Gaucher disease. (a) Erlenmeyer flask deformity of femur; (b) osteopenia of femur; (c) osteosclerosis of hip.

View larger version (69K): [in a new window]   Figure 3. Osteonecrosis in Gaucher disease. (a) Plain radiograph of osteonecrosis affecting both femoral heads (particularly the right); (b) magnetic resonance image of the same patient shown in (a); (c) magnetic resonance T1-weighted image showing early stage osteonecrosis of the left femoral head in another patient with Gaucher disease.

View larger version (62K): [in a new window]   Figure 4. Magnetic resonance T1-weighted sagittal image of the thoracic spine, showing a compression fracture in the mid/lower thoracic spine with posterior displacement of the vertebral fractured body into the spinal canal.

View larger version (83K): [in a new window]   Figure 5. Magnetic resonance images of bone marrow infiltration in Gaucher disease. (a) T1- and (b) T2-weighted images of the spinal column illustrating the reduced signal intensities; (c) T1-weighted image of the left and right femur illustrating a heterogenous pattern of marrow infiltration.

View larger version (22K): [in a new window]   Figure 6. Data on bone pain from the Gaucher Registry. Proportion of patients with a history of bone pain at baseline (i.e. when first included in the registry for ERT– patients and just prior to the first infusion for ERT+ patients) according to age and enzyme replacement therapy (ERT) status.