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DDx

Discussion in 'Spot Diagnosis' started by J.P.C. Peper, May 12, 2012.

  1. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    What's your diagnosis?

    I'll post the correct answer in a couple of days!

    DDx.jpg
     

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    J.P.C. Peper, May 12, 2012
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  2. Gospodin Seki

    Gospodin Seki Moderator Staff Member

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    Gargoylism - Hurler's syndrome
     

    Gospodin Seki, May 12, 2012
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  3. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    Correct answer:

    Yes, it’s Hurler’s syndrome, also known as gargoylism. It’s a lysosomial storage disease; there is an accumulation of sphingolipids, essential components of CNS membranes. Patients have a developmental delay and in the second 6 months of life the characteristic facies and frontal bossing begin to emerge.
     

    J.P.C. Peper, May 15, 2012
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