Presentation
Left thigh pain.
Patient Data
Bilateral iliac and sacrum bone show areas of low signal of Gaucher cell infiltration with internal geographic areas of abnormal showing serpiginous margins of dark signal in keeping with bone infarcts.
Bilateral femoral shaft diaphyses are enlarged showing medullary expansion and cortical thinning.
- the right femoral diaphysis shows intramedullary large infiltration by low T1 and low T2 signal (Gaucher infiltration) with internal areas of medullary infarcts
- the left femoral diaphysis shows intramedullary large cystic lesion eliciting iso to hyperintense signal on T1 and cystic high signal on T2 WI resembling aneurysmal bone cyst, possibly Gaucheroma
- also, both femoral shafts are surrounded by soft tissue edema signals (evident on the left side), likely an acute bone crisis
CT shows multiple geographic sclerotic bone infarcts.
Bilateral femoral shafts enlarged showing expanded medullary cavities and cortical thinning.
Case Discussion
The patient was known to have Gaucher disease. The case illustrates different forms of bone involvement in Gaucher disease.
Gaucher disease (GD) is the most common lysosomal storage disorder in humans. It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity, resulting in the accumulation of a glycolipid (glucocerebroside) within the lysosomes of macrophages, particularity in the bone marrow, spleen and liver.
Musculoskeletal involvement in Gaucher disease is secondary to Gaucher cell infiltration in the bone marrow with subsequent increased pressure within the bone marrow and consequent vascular occlusion.
Musculoskeletal manifestations include:
- marrow replacement with Gaucher cells can lead to expansion of the medullary cavity with thinning of the cortex and endosteal scalloping with subsequent osteopenia on X-ray. Marrow infiltration by Gaucher cells elicits lo signal on T1 and T2 WI.
- Erlenmeyer flask deformity
- lytic lesions which are usually an accumulation of Gaucher cells and blood giving lesions resembling giant cell tumors and aneurysmal bone cysts (Gaucheroma)
- vascular necrosis
- bone infarcts
- bone crisis which is the commonest complication in childhood and adolescents presenting as episodes of acute bone pain, fever, and leukocytosis (pseudo-osteomyelitis)
Case courtesy of Dr. Tamer El Bakry and Ahmed Shawky, MD of Radiodiagnosis
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