Type II: NF2 gene - affect CNS (brain, spinal cord) and cranial nerves

• a.k.a. NF2-related schwannomatosis

Presentation

• Less common pt w/ skin NF and cafe-au-lait stains
• Typically develop schwannomas (spine, CN)
• Onset: typically 20-25 yr
• Common Clinical Features:
  • Bilateral vestibular schwannomas, bilateral acoustic neuromas (90-95%)
    • CN VIII involvement
    • Tinnitus & gradual loss of hearing
  • Intracranial Meningiomas (45 - 77%)
    • seizure, visual changes, muscle weakness
  • Spinal tumours - both intramedullary and extramedullar (63 to 90%)
    • pain, numbness, muscle weakness
  • Schwannomas of other cranial nerves (24-50%)
  • Peripheral neuropathy (up to 66%)
  • Eye lesions
    • Cataracts (60 to 80%), hematomas in retina, optic nerve meningiomas, epiretinal membrane
  • Skin lesions