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