Gaucher’s disease

Gaucher disease is a rare, autosomal, recessive genetic disease caused by mutations in the GBA1 gene, located on chromosome 1 (1q21). This causes a severely decreased intracellular hydrolysis of glucosylceramide.
Massive splenomegaly and unusual, large storage cells in the spleen and bone marrow are the hallmarks of Gaucher disease. Typical “Gaucher-cells” are found: large round or polyhedral macrophages (20-80 µm) and a pale greyish cytoplasm with characteristic wrinkles or striations (parchment-like).
Pseudo Gaucher cells can be observed in some other diseases, such as myeloma with histiocytic accumulation of Ig-crystals, Lymphoplasmacytic lymphoma, chronic myeloid leukemia, myelodysplasia, atypical mycobacteria infection.