Neurofibromatosis type 2
Other Names for this Disease
- Neurofibromatosis central type
- Acoustic schwannomas bilateral
- Bilateral acoustic neurofibromatosis
- Acoustic neurinoma bilateral
vestibular schwannomas by age 30 years; however, other tumors of the central nervous system (the brain and spinal cord) are common, as well. The signs and symptoms vary from person to person and generally depend on the size, location and number of tumors. NF2 is caused by changes (mutations) in the NF2 gene and is inherited in an autosomal dominant manner. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. The treatment is based the signs and symptoms present in each person.Neurofibromatosis type 2 (NF2) is a disorder characterized by the growth of noncancerous tumors of the nervous system. Almost all people affected by NF2 develop bilateral (affecting both sides)
Last updated: 7/21/2015
- D Gareth Evans, MD, FRCP. Neurofibromatosis 2. GeneReviews. August 2011; http://www.ncbi.nlm.nih.gov/books/NBK1201/#nf2.Clinical_Description.
- D Gareth Evans, MD, FRCP. Neurofibromatosis type 2. UpToDate. April 2015; Accessed 7/21/2015.
- David T Hsieh, MD. Neurofibromatosis Type 2. Medscape Reference. October 2014; http://emedicine.medscape.com/article/1178283-overview.
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