“ Rare autosomal recessive disorder due to accumulation of glycolipids in the bone marrow, liver, spleen and lungs. More common amongst Ashk...
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Rare autosomal recessive disorder due to accumulation of glycolipids in the bone marrow, liver, spleen and lungs. More common amongst Ashkenazi Jews. The non-neuropathic form is most common and is associated with prominent skeletal abnormalities. Patients may be asymptomatic or present with anaemia, splenomegaly, large joint stiffness and bone pain.
PLAIN FILM
- Modelling abnormalities (e.g. Erlenmeyer flask deformity), typically of the distal femur or proximal tibia, due to marrow infiltration during bone growth.
- Osteopenia.
Gaucher disease. Femur x-ray demonstrating osteopenia, bone infarcts and Erlenmeyer flask deformity pathognomic for Gaucher disease. Also note the distal femoral fracture.
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