Gaucher disease (glucocerebrosidase deficiency) causes accumulation of glucocerebroside in macrophages of liver, spleen, and bone marrow. The 'Gaucher cell' is a macrophage with a characteristic appearance described as:

• A Foamy cytoplasm due to cholesterol ester accumulation
• B Wrinkled tissue-paper cytoplasm (crinkled silk/crumpled tissue paper appearance) due to glucocerebroside storage ✓
• C Basophilic granules with a targetoid appearance
• D Clear vacuoles with nuclear displacement (signet-ring appearance)

Explanation

Gaucher cells are lipid-laden macrophages in which accumulated glucocerebroside causes the cytoplasm to appear crinkled and striated — classically described as having a 'wrinkled tissue-paper' or 'crumpled silk' appearance on light microscopy, due to the intracytoplasmic glucocerebroside fibrils. They are PAS-positive. Foamy macrophages (option A) are seen in Niemann-Pick disease (sphingomyelin accumulation). Gaucher disease type 1 (most common, non-neuronopathic) presents with hepatosplenomegaly, bone pain/avascular necrosis, and pancytopenia. Enzyme replacement therapy with imiglucerase is standard treatment.

Reference: Harper's Illustrated Biochemistry, 32nd ed.

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Written and medically reviewed by the StethoPrep medical team.