Gaucher disease
Alternate Names : Glucocerebrosidase deficiency, Glucosylceramidase deficiency
Pictures & Images
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Bone marrow aspiration
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A small amount of bone marrow is removed during a bone marrow aspiration. The procedure is uncomfortable, but can be tolerated by both children and adults. The marrow can be studied to determine the cause of anemia, the presence of leukemia or other malignancy, or the presence of some "storage diseases" in which abnormal metabolic products are stored in certain bone marrow cells.
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Gaucher cell, photomicrograph
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Gaucher's disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.
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Gaucher cell, photomicrograph #2
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Gaucher's disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.
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Hepatosplenomegaly
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Liver and spleen enlargement (hepatosplenomegaly) can occur as the result of an inherited disorder in which the liver cannot process glucocerebroside. The buildup of this substance in body tissues can cause severe damage to the central nervous system in infants.
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