A rare LYSOSOMAL STORAGE DISEASE characterised by abnormal deposition of LIPIDS, particularly in the SPLEEN, central nervous system, BONE MARROW, and LIVER. This results in enlargement of the spleen and the liver, and ANAEMIA. Diagnosis is usually by assay of skin fibroblast glucocerebrosidase. Infantile Gaucher's often presents with marked neurological signs of rigid neck DYSPHAGIA, CATATONIA, hyper-reflexia and learning disability. The disease can be treated with ENZYME REPLACEMENT THERAPY using alglucerase.