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Case Study 48 #usmle

Discussion in 'Case Studies' started by aida mak, Oct 13, 2015.

  1. aida mak

    aida mak Bronze Member

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    A 4 year old boy is brought to his physician by his mother. She is worried and tells you that her son is weak and not developing properly. He chews his fingers and lips constantly and seems to enjoy it. On examination, there is marked loss of tissues on his fingers and lips. His serum and urine uric acid are elevated.

    What is the most likely diagnosis of this condition?

    A- Gaucher disease

    B- Hurler syndrome

    C- Lesch-Nyhan syndrome

    D- Galactosemia

    E- Tay-sachs disease

    Answer
     

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    Last edited: Sep 3, 2016

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