Gaucher Cell

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Gaucher cells are large histiocytes with fibrillary pale blue to eosinophilic cytoplasm imparting a wrinkled-tissue paper appearance to the cell. The nuclei are small and eccentrically placed. These cells can be observed in the bone marrow aspirate/trephine biopsy or in liver biopsies and splenectomy specimens of affected patients. Differentiation from pseudo-Gaucher cells with associated bone marrow pathology can be a challenge. Clinical significance : It results from deficiency of a lysosomal enzyme glucocerebrosidase. Glucocerebroside is not degraded to glucose and lipid components which then accumulate within the lysosomes of cells in patients with Gaucher disease. Diagnosis: Confirmatory tests include - Glucocerebroside enzyme levels on peripheral blood leucocytes & Target mutation analysis