Soft tissue

Peripheral nerve


Neurofibromatosis type 2

Topic Completed: 1 November 2012

Minor changes: 17 February 2020

Copyright: 2002-2021,, Inc.

PubMed Search: Neurofibromatosis type 2 [title]

Vijay Shankar, M.D.
Page views in 2020: 1,247
Page views in 2021 to date: 1,276
Cite this page: Shankar V. Neurofibromatosis type 2. website. Accessed October 16th, 2021.
Definition / general
  • Also known as NF2, acoustic neurofibromatosis
  • Autosomal dominant, 1 / 40K incidence
  • Mutation in merlin gene at 22q12; function unknown but widely distributed and similar to cytoskeletal protein
  • Nonsense mutations usually more severe than missense mutations
  • Signs / symptoms: bilateral acoustic neuromas or multiple meningiomas, spinal cord ependymomas; also schwannosis (ingrowth of Schwann cells into cord), meningioangiomatosis (meningeal cells and blood vessel proliferation into the brain), glial hamartia (microscopic nodular collections of glial cells in cerebral cortex); cafe au lait spots, but no Lisch nodules
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