3-year-old child develops headaches and is brought to the family doctor

Discussion in 'Plab 1 and 2 forum' started by Neha Gupta, Jun 22, 2013.

  1. Neha Gupta

    Neha Gupta Active Member

    Q. 3-year-old child develops headaches and is brought to the family doctor. Funduscopic examination reveals papilledema; one retina also shows a very vascular tumor. CT of the head demonstrates a cystic tumor of the cerebellum. This child has a high likelihood of later developing which of the following?

    a) Berry aneurysm of the basilar system

    b) Bilateral renal cell carcinoma

    c) Cancer of a peripheral nerve

    d) Choreiform movements related to decreased GABA and acetylcholine

    e) Serum cholesterol of greater than 700 mg/dL
  2. ANS B

    The disease is von Hippel-Landau disease, which is associated with a deletion involving the VHL gene on chromosome 3 (3p). Affected individuals develop vascular tumors (hemangioblastomas) of the retina, cerebellum, and/or medulla. Roughly half of the affected individuals later develop multiple, bilateral renal cell carcinomas. Berry aneurysms (choice A) are unrelated to hemangioblastomas, but are instead associated with adult polycystic disease. Peripheral nerve cancers (choice C) are a feature of von Recklinghausen\'s disease (neurofibromatosis type I). Choreiform movements, related to decreased GABA and acetylcholine (choice D), are a feature of Huntington\'s disease. Extremely high serum cholesterol (choice E) suggests the homozygous form of familial hypercholesterolemia

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