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Bone marrow aspiration Gaucher cell, photomicrograph Gaucher cell, photomicrograph #2 Hepatosplenomegaly

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Gaucher disease

Alternative Names: Glucocerebrosidase Deficiency; Glucosylceramidase Deficiency Symptoms: Symptoms vary depending on the type of disease, but may include: enlarged spleen (splenomegaly) enlarged liver (heptomegaly) lung disease skin changes cognitive impairment bone pain and fractures easy bruising fatigue seizures severe edema at birth heart valve problems Signs and tests: The following tests may be performed: blood cell examination for decreased enzyme activity white blood cell cultures for beta-glucosidase bone marrow aspiration biopsy of the spleen MRI, CT and/or X-ray of the skeleton Genetic testing. This is performed by obtaining bone marrow or blood. Genetic testing may be used to confirm blood tests, test for carrier status, to make a prenatal diagnosis, and to determine prognosis.

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