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  #1  
Old 04-01-2012
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Biochemistry Jewish Girl Pancytopenia and Splenomegaly

A 12-year-old healthy Jewish girl is found on routine blood count to have a mild anemia, leukopenia, and thrombocytopenia. Physical examination reveals an enlarged spleen. An x-ray of the femur is described as "appearing to be an Erlenmeyer flask." Bone marrow examination shows abnormal cells. The diagnosis can be confirmed by measurement of activity of which of the following?


a. Sphingomyelinase activity
b. Hexosamidase A
c. Sulfatase A
d. Glucocerebrosidase
e. Ceramide trihexosidase
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Old 04-01-2012
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i think gauchers disease
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D. glucocerbrosidase.. this is Gaucher's disease..
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Old 04-01-2012
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I think Gaucher is the only one who could make it into 12 years...
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Old 04-01-2012
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Originally Posted by DocSikorski View Post
I think Gaucher is the only one who could make it into 12 years...
Also... is the only one with splenomegaly among the answers.
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Old 04-01-2012
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I go for d....
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Old 04-02-2012
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Default U guys r correct...

The answer is d; Glucocerebrosidase.

Gaucher disease is characterized by a glucocerebrosidase deficiency, which causes an abnormal accumulation of glucocerebroside in the reticuloendothelial system. Bone marrow aspirate shows the typical Gaucher cells engorged with glucocerebroside. Replacement of marrow with these cells leads to anemia, leukopenia, and thrombocytopenia. The liver and spleen can also be involved. Serum acid phosphatase is elevated. X-ray demonstrates an Erlenmeyer-flask appearance of the long bones. The diagnosis of Gaucher disease is confirmed by the absence of glucocerebrosidase activity in leukocytes, in cultured skin fibroblasts, and in liver cells. Prenatal diagnosis by enzyme analysis is now possible. In the most common form of Gaucher disease, adult type I, there is no involvement of the central nervous system. Therefore, MRI of the brain is not indicated.

Sphingomyelinase deficiency causes type A Niemann-Pick disease; hexosaminidase A deficiency causes Sandhoff disease; sulfatase A deficiency causes juvenile metachromatic leukodystrophy; and serum trihexosidase causes Fabry disease.
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Old 04-03-2012
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Another differential, (not mentioned here) with Erlenmeyer flask bones on x-ray is Osteopetrosis. Which also has thrombocytopenia, anemia and extramedullary hematopoiesis. Of course its nothing related to storage diseases, just wanted to point it out
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Old 04-03-2012
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Another differential, (not mentioned here) with Erlenmeyer flask bones on x-ray is Osteopetrosis. Which also has thrombocytopenia, anemia and extramedullary hematopoiesis. Of course its nothing related to storage diseases, just wanted to point it out
Yeah... you are so right. They have the same x-rays.
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