Case of the Month: November, 2012 Page 4

Answer: C) Von Hippel-Lindau.

Discussion of Von-Hippel-Lindau:

  • Familial tumor syndrome characterized by vascular tumors, cysts, adenomas, and carcinomas impacting multiple organ systems.
    • CNS
    • Visual/Auditory
    • Renal
    • Endocrine
    • GI/GU
  • Incidence: 1/35,000-50,000 (M=F)
  • Genetics: Autosomal dominant w/ high penetrance and variable delayed    expression (20’s-30’s).
    • Chromosome: 3p25-26 – Type of mutation and location within gene account for phenotypic variability.
    • VHL gene: Tumor suppressor involved in cell cycle regulation and angiogenesis.
  • Prenatal: No sonographic evidence of abnormality.
  • Dx Criteria
    • CNS and retinalhemangioblastoma.
    • CNS or retinalhemangioblastoma+ typical visceral manifestation or FHx.

Question: Given the diagnosis of VHL, which of the patient’s abnormalities is the most likely source of morbidity?

  1. Pancreatic cyst
  2. Epididymal cyst
  3. Renal cyst
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