huyniid
Forum Elite
Topics: 9
Posts: 195
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A 25 yo M of Eastern European Jewish descent is being evaluated of hip fracture and splenomegaly. He reports recurrent acute episodes of bone pains for the past 5 yrs.
CBC: RBC 2,000,000/mm3; WBC 3,300; PLT 70,000/mm3
XR: multiple osteolytic lesions in the vertebral column and femurs
Bone marrow aspirate shows fibrillary cytoplasm with a finely and uniformly evacuolated appearance. The fibrillary material in the cytoplasm is PAS +
Which of the following is the most effective Rx available for this condition?
A. B6 and Folate
B. Hematin
C. Allogeneic bone marrow transplantation
D. Cytotoxic drugs such as hydroxyurea
E. High carbohydrate fat
F. Replacement therapy with aglucerase
G. Splenectomy
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| robin082006
Forum Hero
Topics: 471
Posts: 5,123
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C---> Allogeneic bone marrow transplantation
___________________
The Key to Succeed is Patience.
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| DrPak
Forum Elite
Topics: 49
Posts: 348
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It looks like a myeloproliferative disease causing bone marrow destruction with aplastic anemia. BMT seems like a correct answer.
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| huyniid
Forum Elite
Topics: 9
Posts: 195
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This is a case of Gaucher Dz. F is the correct answer!!! I chose G and got it wrong!
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| NE
Forum Guru
Topics: 53
Posts: 504
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It's gaucher for sure.
Are 2 effective therapies:
* miglustat - inhibitor of the glucosylceramide synthase ( first step in the synthesis of most glycosphingolipids)
*enzyme replacemnt therapy for types without CNS involvment
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| DrPak
Forum Elite
Topics: 49
Posts: 348
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Good question!
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