Gaucher disease is the most common lysosomal storage disorder. Glucocerebrosidase (glucosylceramidase) deficiency leads to glucocerebroside accumulation in macrophages. Which cell feature is pathognomonic on bone marrow biopsy?
- A Sea-blue histiocytes with foamy cytoplasm containing phospholipid
- B Cherry-red spot on macroscopic examination of the marrow
- C Gaucher cells — engorged macrophages with crinkled tissue-paper or wrinkled silk cytoplasm from stored glucocerebroside, PAS-positive ✓
- D Balloon cells with clear vacuolated cytoplasm (Niemann-Pick foam cells)
Explanation
Gaucher cells are macrophages massively engorged with glucocerebroside (glucosylceramide). The stored substrate gives the cytoplasm a characteristic crinkled or wrinkled tissue-paper (crumpled silk) appearance on Wright-Giemsa stain, and cells are strongly PAS-positive. They accumulate in bone marrow, spleen, and liver causing hepatosplenomegaly, bone marrow infiltration, anaemia, thrombocytopenia, and bone disease (Erlenmeyer flask deformity). Sea-blue histiocytes contain ceroid and are seen in NPC type B and Niemann-Pick disease. Cherry-red spot is a fundal finding in GM1/GM2 gangliosidoses and NPC. Foam cells (Niemann-Pick cells) contain sphingomyelin.
Reference: Harper's Illustrated Biochemistry, 32nd ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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