A child is diagnosed of having Gaucher's disease. Histology may show accumulation of the following substance:
Gaucher disease is the most common autosomal recessive lipid storage disorder. Deficiency of the enzyme beta glucocerebrosidase results in accumulation of the glycolipid glucocerebroside in the cells of the macrophage-monocyte system. Diagnosis of Gaucher disease depends on demonstration of deficiency of beta glucocerebrosidase or identification of mutations in the beta glucocerebrosidase gene. Ref: Zimran A., Elstein D. (2010). Chapter 73. Lipid Storage Diseases. In J.T. Prchal, K. Kaushansky, M.A. Lichtman, T.J. Kipps, U. Seligsohn (Eds), Williams Hematology, 8e.