Apr 6, 2014
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A disease characterised by abnormal storage of LIPID, particularly in the SPLEEN, central nervous system, BONE MARROW, and LIVER. This results in enlargement of the spleen and the liver – particularly of the former – and ANAEMIA. It runs a chronic course. Diagnosis is usually by skin fibroblast glucocerebrosidase assay. Death often results from PNEUMONIA or bleeding. Infantile Gaucher’s often presents with marked neurological signs of rigid neck DYSPHAGIA, CATATONIA, hyper-reflexia and low IQ. The disease can now be treated with enzyme replacement using alglucerase. The annual cost per patient is substantial – several thousand pounds.

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Medical Dictionary

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