Cellfie of the Day: Classic Gaucher Cells Under the Microscope
Surbhi Singh, Consultant Haematopathologist at Agilus Diagnostics, Fortis Hospital, posted on LinkedIn:
”Cellfie Of The Day
Gaucher Cells
Large macrophages with abundant, fibrillary “wrinkled tissue paper” cytoplasm and small, eccentrically placed nuclei – classic Gaucher cells, seen in bone marrow aspirate and biopsy
Pathophysiology:
Inherited β-glucocerebrosidase deficiency → accumulation of glucocerebroside within macrophages → formation of Gaucher cells.
Clinical Features:
• Hepatosplenomegaly
• Anemia, thrombocytopenia, leukopenia
• Bone pain, fractures, osteonecrosis (“Erlenmeyer flask deformity”)
• Growth retardation in children
• In some types: neurological involvement (seizures, ataxia)
Differential Diagnoses:
• Pseudo-Gaucher cells – seen in CML, thalassemia, multiple myeloma (due to high cell turnover)
• Niemann–Pick disease – foamy macrophages with sea-blue cytoplasm (sphingomyelin accumulation)
• Sea-blue histiocytes – in lipid storage disorders or post-chemotherapy marrow recovery
• Malakoplakia / Storage histiocytosis variants
Special Stains:
• PAS: Strongly positive (due to glycolipid content)
• Sudan Black / Oil Red O (in frozen sections): Positive for lipids
• Acid phosphatase: Positive, resistant to tartrate”
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