USMLE Forums banner
1 - 3 of 3 Posts

·
Registered
Joined
·
12 Posts
The answer choice is C.
This kid has a lysosomal storage disease called Tay-Sachs (of autosomal recessive inheritance). Clinical findings in these patients are progressive neurodegeneration, hepatosplenomegaly, and cherry-red spot on macula. The enzyme deficient is Hexosaminidase A.

Although is not in the answer choices, you should be able to differentiate this disease from another lysosomal storage disorder called Niemann-Pick disease (autosomal recessive too), in which there's also presence of the cherry-red spot on macula. In this case, the enzyme deficient would be Sphingomyelinase.
 
1 - 3 of 3 Posts
This is an older thread, you may not receive a response, and could be reviving an old thread. Please consider creating a new thread.
Top