• A 27-year-old male presents with an unprovoked convulsive episode. Medical history is noncontributory. Family history is significant for clear cell renal cell carcinoma in his father, resulting in death. The exact cause of his paternal grandfather’s death is unclear, but is thought to be due to a “bleed in the brain.” Head CT is performed.
  • Autosomal dominant syndrome secondary to VHL gene mutation on chromosome 3
    • VHL gene product is a tumor suppressor gene
      • down regulates a transcription factor (HIF-1) involved in the expression of VEG-F and erythropoietin
    • leads to the development of:
      • hemangioblastomas of the CNS
        • most commonly in the cerebellum and retina
      • cysts in various organs (e.g., kidney, pancreas, liver)
  • Associated with:
    • hemanioblastomas (most common)
    • clear cell renal cell carcinoma
    • retinal capillary hemangioblastoma
    • pheochromocytomas
    • endolymphatic sac tumors
    • pancreatic tumors
  • Genetic testing
    • usually on lymphocytes of the peripheral blood
  • Imaging techniques used to identify associated diseases
    • e.g., MRI/CT of the head, abdominal CT/MRI, and ophthalmic ultrasonography
  • Multiple endocrine neoplasia, type 2 (MEN 2)
  • Pheochromocytoma
  • Autosomal dominant polycystic kidney disease
  • Medical management
    • surveillance
      • e.g., ophthalmologic exams for retinal hemangioblastomas
  • Surgical management
    • e.g., argon laser photocoagulation, partial nephrectomy, and neurosurgical excision in non-stable lesions
Prognosis, Prevention, and Complications
  • Complications
    • includes renal cell carcinoma and hemangioblastoma

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