• 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

• Acta Otorrinolaringol Esp 2010;61:306

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