Abstract
Gaucher disease is an autosomal recessive inherited disorder of glycolipid metabolism in which the failure to metabolize a glucocerebroside results in its storage in the macrophages of the reticuloendothelial system with secondary end-organ effects. Three clinical types exist based upon the severity of CNS involvement. Severity of the bone disease does not necessarily correlate with that of other viscera. Bone modeling deformities, osteopenia, and avascular necrosis of bone may occur. Histologic hallmark is the presence of large macrophages containing pale eosinophilic, cytoplasm having the appearance of crinkled tissue paper. Gaucher cells are PAS positive, diastase resistant, and stain weakly with Sudan black. Prognosis depends on disease type. Enzyme replacement therapy improves life quality for patients with type I disease.
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Klein, M.J. (2015). Gaucher Disease. In: Santini-Araujo, E., Kalil, R., Bertoni, F., Park, YK. (eds) Tumors and Tumor-Like Lesions of Bone. Springer, London. https://doi.org/10.1007/978-1-4471-6578-1_67
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DOI: https://doi.org/10.1007/978-1-4471-6578-1_67
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