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Paediatric Pathology Online

Pathology of Gaucher's Disease

Dr Sampurna Roy MD                       




Gaucherís disease is due to an absence of B-glucosidase and results in the accumulation of glucocerebroside in the reticuloendothelial cells.

The red pulp of the spleen, sinusoids and medullary portions of lymph nodes, sinusoids of the liver and bone marrow are particularly involved.

The Gaucher cell is a large, sometimes multinucleate cell, and has a cytoplasm, which stains bluish-gray with Giemsa. 

The cytoplasm has the appearance of "crumpled tissue paper", particularly noticeable with PAS staining.

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Like all storage cells and histiocytes with activated lysosomal systems there is strong acid-phosphatase activity.

The cytoplasm also shows autoflourescence in unstained paraffin sections and there is variable birefringence in unstained frozen sections.

The cell morphology contrasts with the storage cells of Niemann-Pick disease which typically shows fine cytoplasmic vacuolation.


Further reading:

Gaucher's disease: report of 11 cases with review of literature.

Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm.

Gaucher disease.

Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy.

The biology of the Gaucher cell: the cradle of human chitinases.

CCL18: a urinary marker of Gaucher cell burden in Gaucher patients.

Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases.

Gaucher disease and cancer: concept and controversy.

Neurological features in Gaucher's disease during enzyme replacement therapy.



Dr Sampurna Roy  MD

Consultant  Histopathologist (Kolkata - India)






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