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DDx

Discussion in 'Spot Diagnosis' started by J.P.C. Peper, Aug 30, 2012.

  1. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    What's your diagnosis?

    The patient also has kidney cancer.

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

    DDx.jpg
     

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  2. dracomalfoy

    dracomalfoy Famous Member

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    Von Hippel Lindau Syndrome
     

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  3. Gospodin Seki

    Gospodin Seki Moderator Staff Member

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    Von Hippel Lindau disease
     

  4. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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    Von Hippel Lindau disease.
     

  5. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    Correct answer:

    This is a retinal hemangioblastoma, associated with Von Hippel-Lindau syndrome.

    VHL is caused by a germ-line mutation of a tumor suppressor gene on chromosome 3p (autosomal dominant). It predisposes to bilateral renal cel cancer, retinal and cerebellar hemangioblastoma and pheochromocytoma. It may present with visual impairment or cerebellar signs (e.g. ataxia).
     

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