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This is the bone marrow biopsy of a 32 year old woman diagnosed with Gaucher disease. Gaucher disease is a rare inherited metabolic disorder caused by deficiency of the enzyme glucocerebrosidase. This leads to accumulation of a fatty substance (glucocerebroside) within lysosomes, especially in the spleen, liver, and bone marrow.
The characteristic Gaucher cells are large macrophages filled with lipid, giving them a “wrinkled tissue paper” cytoplasm. These cells accumulate in bone marrow and organs, disrupting normal function and leading to disease symptoms.