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Case 96 - Discussion

Uploaded: 2009-09-22, Updated: 2012-02-10

Gaucher's Disease

 

Summary of Gaucher’s Disease:

§   Autosomal recessive, defective β-glucocerebrosidase

§   Most common lysosomal storage disorder

§   Accumulate glucocerebroside in macrophages of spleen, liver and bone marrow

§   Morphology: Sheets and clusters of Gaucher cells, macrophages with broad “wrinkled paper” cytoplasm and eccentric nuclei

§   PAS+, iron+ (diffuse)

Differential Diagnosis:

§   Niemann-Pick disease: granular or vacuolated cytoplasm

§   Infectious diseases: Whipple disease - GI symptoms, large cystic space, granulomas, PAS+

§   Langerhans cell histiocytosis: epithelioid cells, nuclear grooves, necrosis, eosinophils

§   Hemophagocytic syndrome: erythrophagocytosis

§   Metastatic carcinoma: rarely in kids, cytological atypia, cytokeratin+