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DDx

Discussion in 'Spot Diagnosis' started by J.P.C. Peper, Aug 2, 2012.

  1. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    What's your diagnosis?

    The patient is a little anemic. Both the patient's mother and son have this condition, as well.

    I'll post the correct answer in a few days!

    DDx.jpg
     

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    J.P.C. Peper, Aug 2, 2012
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  2. lakmalDJ

    lakmalDJ Famous Member

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    this is a case of Hereditary hemorrhagic telangiectasia also known as Osler-Weber-Rendu syndrome
     

    lakmalDJ, Aug 4, 2012
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  3. Gospodin Seki

    Gospodin Seki Moderator Staff Member

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    Osler Weber Rendu disease
     

    Gospodin Seki, Aug 4, 2012
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  4. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    Correct answer:

    Yes, it's Osler-Weber-Rendu syndrome (hereditary telangiectasia).

    The telangiectasia are seen on the skin and mucous membranes (causing epistaxis and GI bleeds). It's associated with pulmonary, hepatic and cerebral AVMs. Inheritance: autosomal dominant.
     

    J.P.C. Peper, Aug 5, 2012
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  5. sundarto

    sundarto Bronze Member

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    osler weber rendu syndrome (hereditary idiophatic teleangiectasis)
     

    sundarto, Aug 5, 2012
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