adoloscent with BONE pain...biopsy tells the story...what is the most likely dx? WITH expln plz - USMLE Forums
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Old 06-19-2012
tyagee's Avatar
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Default adoloscent with BONE pain...biopsy tells the story...what is the most likely dx? WITH expln plz

A 15-year-old Ashkenazi Jewish boy comes to the office because of pain in his right knee. He gives a history
of easy bruising and chronic fatigue. His height and w eight are in the 40th percentile mark for his age. The
physical examination reveals tenderness over the low er end of the right femur, mildly enlarged liver, and
moderately enlarged spleen. X-rays of the right femur reveal an Erlenmeyer flask deformity of the distal
femur. Significant lab findings are anemia and thrombocytopenia. A bone marrow examination reveals cells
with a wrinkled paper appearance . What is the most likely cause of this patient's condition?
A. Deficiency of the enzyme acid beta-glucosidase
B. Deficient activity of sphingomyelinase
C . Deficient activity of beta-galactosidase
D. Deficiency of hexosaminidase activity
E. Deficiency of the lysosomal enzyme, ceramidase
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Old 06-19-2012
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I agree

Mmm.. i think it Gaucher's D ( hense Thromocytopenia + bones + wrinkled paper appearance) . the enzyme deficient in this Disease is Glucocerebrosidase ... and i would choose A, it contains gluco + sidase


b- nieman pick
c- krabbe
d- tay sachs
e - converts ceramide to sphyngosine ( i didn't new the disease associated with it: farber disease )
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