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Old 04-22-2010
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Kids Cherry red macula and developmental delay

A 10-month-old male is brought to the pediatrician by his mother who is concerned about his lack of interaction. He was previously playful and happy but now hardly ever smiles. On exam, he is found to have poor muscle tone and a cherry-red macula. Deficiency of which enzyme is most likely?

A. Glucocerebrosidase
B. Glucose-6-phosphatase
C. Hexosaminidase A
D. L-iduronidase
E. Tyrosinase
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Old 04-22-2010
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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.
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Old 04-22-2010
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I thought tay sachs doesnt have hepatosplenomegaly. I also though that there is a developmental delay when you are very young( The disease is Ar so you will see it early in life and this child almost reaching puberty but again maybe im wrong
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Old 04-22-2010
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I'm sorry, you are right. Kids with Tay-Sachs do not present with hepatosplenomegaly (Niemann-Pick kids do).
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Old 04-22-2010
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Also the clinical findings can start to appear by the 6 months of age and usually results in death by the age of 4.
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Old 04-22-2010
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OH GOD! i didnt read the question well i thought he is 10 years old
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Old 04-23-2010
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the first answer that came to my mind was Niemann-Pick but when i saw the choices it left me with Tay-Sachs.

do u think they would give both Niemann-Pick and Tay-Sachs as choices in ONE question during the real exam without adding information like hepatosplenomegaly(NP) or onion skin (TS)?
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Old 04-23-2010
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I dont think that they will waste their time to make lysosomal storage diseases questions hard. There is not something conceptual about it and if there is its minimal. They will try to trick you on other stuff. Thats my opinion. If you will get a lysosomal disease it would be direct with the diagnosis or the maximaml thing they can do is ask you what else is expected to be seen. Pure memorization
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Old 07-06-2012
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Quote:
Originally Posted by marco View Post
I dont think that they will waste their time to make lysosomal storage diseases questions hard. There is not something conceptual about it and if there is its minimal. They will try to trick you on other stuff. Thats my opinion. If you will get a lysosomal disease it would be direct with the diagnosis or the maximaml thing they can do is ask you what else is expected to be seen. Pure memorization
i've seen questions with Tay-Sachs vs NP, only mention of age + bilateral Cherry Red macula.

ie, there was no mention of hepatosplenomegaly or onion skin...
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