Gaucher's Disease

August 29, 2014

A 55-year-old man presented with bilateral knee pain. The images of his knees and chest (below) suggested a hereditary condition.

A 55-year-old man presented with bilateral knee pain. The images of his knees and chest (below) suggested a hereditary condition.

Diagnosis:  Gaucher’s disease

Gaucher’s disease is a lysosomal storage disorder in which the patient lacks the enzyme gluococerbrosidase, leading 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 (visible as foci of radiolucency), which can predispose to fracture.

Accumulation within the marrow can also cause expansion of the bone, yielding an Erlenmeyer flask deformity visible in radiographs from this patient. [See Figures 1, 2, and 3 below.]

Gaucher’s also predisposes to bone infarcts, which can be seen in the medullary space or the ends of the bone. [See Figure 4, taken from another case.]

H-shaped vertebrae are thought to be secondary to an ischemic growth disturbance at the central portion of the chondro-osseous junction. [See Figure 5, from yet another case]

Replacement of the marrow tends to yield low-signal T1 and low signal T2 marrow, but this may be patchy in appearance. [Figure 6, also a different case] 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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Figure 1:Radiographs of both knees demonstrate an undertubulation of the distal left femur (or Erlenmeyer flask deformity). Sclerotic and cystic radiolucent changes are visible in the distal femora. Similar findings are present in the tibiae.

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Figure 2:Cystic and sclerotic changes are visible in the left humeral head, indicating avascular necrosis. (Look for green arrow at far upper right.)

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Figure 3: AP view of femora. Top arrow: Erlenmeyer flask deformity. Lower 2 arrows: Sclerotic and cystic changes of the distal femora.

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Figure 4: Different case. Coronal IR MR images right humerus. MRI of the right humerus demonstrates diffuse, increased signal with a well- demarcated, serpiginous-type focus of low and high signal intensity in the proximal humerus, representing an infarct.


 

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Figure 5: (Same patient as Figure 4, right humerus.) Arrow shows a focus of avascular necrosis.



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Figure 6: Third patient. Sagittal IR and Sagittal T1 MRI of lumbar spine. These images of the lumbar spine demonstrate persistent, diffuse low signal intensity of the vertebrae, with a compression fracture of L1.



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Figure 8:  Sagittal 1R image of lumbar spine.

 

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Figure 9:  Sagittal T1 and coronal T2 images of lumbar spine. This 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 (arrows).

[Drawn from the imaging case study collection of Hospital for Special Surgery, with permission.]

 

References:

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

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

3. Hermann G, Shapiro RS, Abdelwahab IF, Grabowski G. MR Imaging in Adults with Gaucher Disease Type I: Evaluation of Marrow Involvement and Disease Activity. Skeletal Radiol. (1993) 22(4):247-251.