Neurofibromatosis 2 (NF2)

🚧
UNDER CONSTRUCTION

FACTS

  • mutation in NF-2 gene → neurofibromin-2 / schwannomin (SCH) /merlin (meosin-ezrinradixin-like) (ERM) protein encoded on chromosome 22
  • Associations:
    • bilateral vestibular schwannomas, meningiomas
    • cataracts (juvenile sublenticular opacity)
    • spinal meningiomas
    • ependymomas / low grade astrocytomas

HPI

universal ROS

    PHYSICAL EXAM

    universal exam

      IMAGING

       

      A/P