What's the Diagnosis - Case 24

History 55 year old man with bilateral knee pain.

What’s the Diagnosis - Case 24

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Findings Radiographs demonstrate an undertubulation of the distal left femur (or Erlenmeyer flask deformity), cystic and sclerotic changes of the left humeral head indicating avascular necrosis, and lucent and sclerotic foci within the distal femora and proximal tibiae.

MRI of the right humerus demonstrates diffuse, increase signal of the right humerus with a well demarcated, serpiginous type focus of low and high signal intensity in the proximal humerus representing an infarct.

The first set of MR images of the lumbar spine demonstrate persistent, diffuse low signal intensity of the vertebrae with a compression fracture of L1. The liver also demonstrates a markedly low signal intensity.

The second set of MR images of the lumbar spine demonstrates a more heterogeneous signal of the marrow. Focal areas of necrosis are seen within the vertebral bodies as well as H-shaped vertebrae.

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Diagnosis: Gaucher’s Disease Gaucher’s disease is a lysosomal storage disorder where the patient lacks the enzyme gluococerbrosidase that leads to accumulation of glucocerebroside within the lysosomes of macrophages. These Gaucher cells tend to deposit in the organs of the reticuloendothelial system such as the liver, spleen, and bone marrow. Accumulation in the bone marrow leads to osteopenia, or foci, of radiolucency, which can also predispose to fracture.

Gaucher’s also predisposes to bone infarcts, which can be seen in the medullary space or ends of the bone. Accumulation within the marrow can also cause expansion of the bone yielding an Erlenmeyer flask deformity. H-shaped vertebrae are thought to be secondary to an ischemic growth disturbance at the central portion of the chondro-osseous junction.

Replacement of the marrow tends to yield low signal T1 and low signal T2 marrow, but this may be patchy in appearance. Areas of increased T2 signal may be seen in the setting of infarction and a more “active marrow process” such as ongoing ischemia.

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Resources

• Resnick. Diagnosis of Bone and Joint Disorders. 4th Ed. 2002.

• Magnetic Resonance Imaging of Bone Marrow Changes in Gaucher Disease During Enzyme Replacement Therapy: First German Long-term Results. Poll LW, et al. Skeletal Radiol. 2001 Sep;30(9):496-503.

• MR Imaging in Adults with Gaucher Disease Type I: Evaluation of Marrow Involvement and Disease Activity. Hermann G, Shapiro RS, Abdelwahab IF, Grabowski G. Skeletal Radiol. 1993;22(4):247-51.

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