centered image

centered image

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

    Joined:
    Apr 8, 2012
    Messages:
    875
    Likes Received:
    60
    Trophy Points:
    1,245
    Gender:
    Male
    Occupation:
    Medical student (since 2009)
    Practicing medicine in:
    Netherlands

    What's your diagnosis?

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

    DDx.jpg
     

    Add Reply
    J.P.C. Peper, May 12, 2012
    #1

  2. Gospodin Seki

    Gospodin Seki Moderator Staff Member

    Joined:
    Jan 3, 2012
    Messages:
    1,042
    Likes Received:
    303
    Trophy Points:
    3,050
    Gender:
    Male
    Occupation:
    Student of Belgrade Medical School
    Practicing medicine in:
    Serbia
    Gargoylism - Hurler's syndrome
     

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

    J.P.C. Peper Bronze Member

    Joined:
    Apr 8, 2012
    Messages:
    875
    Likes Received:
    60
    Trophy Points:
    1,245
    Gender:
    Male
    Occupation:
    Medical student (since 2009)
    Practicing medicine in:
    Netherlands
    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
    #3

Share This Page

<