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Journal Article
Review
Neurofibromatosis type 2.
International Journal of Clinical Practice 2003 October
Neurofibromatosis type 2 (NF2) is often not recognised as a distinct entity from peripheral neurofibromatosis. NF2 is a predominantly intracranial condition whose hallmark is bilateral vestibular schwannomas. NF2 results from a mutation in the gene named merlin, located on chromosome 22. The disease has a variable presentation, with the severe subtype having an early and rapid progression and the milder type having a later onset and a less aggressive course. The diagnosis and management of these patients present a unique challenge. There are also implications for the family members as half the cases are inherited. We discuss the genetic characteristics, clinical presentation, natural history, diagnostic criteria, investigations, screening and management of this condition.
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