Neurofibromatosis Type 2

• Autosomal Dominant
• Chromosome 22
• Present in teen years with hearing loss, tinnitus, facial weakness, unsteadiness
• Lens opacities may precede other symptoms
• Cutaneous lesions less common than in NF-1
• May develop other Schwann cell tumors of CN’s, spinal roots/cord, CNS meningeal or glial tumors
• Diagnostic criteria: Each criteria below is sufficient for diagnosis
  • Bilateral VIII nerve masses
  • 1st degree relative with NF-2 AND Unilateral VIII nerve mass
  • 1st degree relative with NF-2 AND two of the following
    • plexiform neurofibroma, meningioma, glioma, schwannoma, posterior subscapular opacities

CHLA Board Review 2005