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    md90's Avatar
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    case 8.. easy one

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    A 5-month-old girl is brought to her pediatrician by her parents, both of whom are Jewish. Although the baby girl was developing normally for the first 4 months of her life, she can no longer roll over by herself. In addition, while she often smiled at 3 months of age, she no longer does so. Funduscopic examination reveals a "cherry-red" spot on her macula.

    1. What is the most likely diagnosis?
    2. What is the biochemical defect in the this condition, and what is the enzyme used for or its' purpose?
    3. How is this gene responsible for this condition inherited?
    4. Name the other disease from the same group but inherited in a different way, and name that inheritance.
    5. What other conditions present with similar findings on physical examination?
    6. What other disease in the same group also have a higher prevalence among the Ashkenazi Jews?
    "SLAM-DUNK THE STEPS"

    “Peace, it does not mean to be in a place where there is no noise, no trouble, or no hard work…..it means to be in the midst of those things and still be calm in your
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  2. #2
    MDiva's Avatar
    MDiva is offline Member 511 points
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    Well, I'll take the first one. Tay-Sachs disease.
    I used to pray and pray for a bike and never got one. Later I learned that God doesn't work that way... so I went out and stole a bike and asked God for forgiveness.

  3. #3
    Unswer Guest
    Quote Originally Posted by md90 View Post

    1. What is the most likely diagnosis?
    2. What is the biochemical defect in the this condition, and what is the enzyme used for or its' purpose?
    3. How is this gene responsible for this condition inherited?
    4. Name the other disease from the same group but inherited in a different way, and name that inheritance.
    5. What other conditions present with similar findings on physical examination?
    6. What other disease in the same group also have a higher prevalence among the Ashkenazi Jews?
    1-taysah
    3-resecive
    5-nimanpic

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    md90's Avatar
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    Quote Originally Posted by Unswer View Post
    1-taysah
    3-resecive
    5-nimanpic
    Good.. MDiva and unswer... except need to be specific whether is autosomal or x-linked recessive..(look below)

    1. Tay-Sach's (one of the sphingolipidoses)
    2. deficiency of hexosaminidase A which is present in the lysosomes of the CNS cells and helps to degrade the GM2 ganglioside (accumulation leads to progressive neurodegeneration)
    3. Autosomal recessive
    4. Fabry's is X-linked (only sphingolipidose)
    5. Niemann's Pick
    6. Gaucher's disease--B-glucocerebrosidase deficiency
    "SLAM-DUNK THE STEPS"

    “Peace, it does not mean to be in a place where there is no noise, no trouble, or no hard work…..it means to be in the midst of those things and still be calm in your
    heart.”

  5. #5
    IMG SURVIVOR's Avatar
    IMG SURVIVOR is offline Moderator 536 points
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    what is this GM2 ganglioside?

    do we need that?
    Moderator: USMLE AND Residency Forums.

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    why even bother with the obvious. Just know where you are need it and where you can help the most.

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    md90's Avatar
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    Quote Originally Posted by IMG SURVIVOR View Post
    what is this GM2 ganglioside?

    do we need that?
    from what I understand... GM2 ganglioside is a lipid, and it helps in the regulation of making the dendrites in the pyrimidal neurons of the cortex; once these dendrites have matured, the GM2 ganglioside are decreased and sent to the lysosomes to be degraded by the hexosaminidase A enzyme. But if there is a deficiency or no enzyme, then it can not be degraded, and it accumulates leading to a progressive neurodegeneration; Children will first become deaf and blind, then paralysis will set in... usually will die by age 2 or 3 years.
    "SLAM-DUNK THE STEPS"

    “Peace, it does not mean to be in a place where there is no noise, no trouble, or no hard work…..it means to be in the midst of those things and still be calm in your
    heart.”

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