Neurofibromatosis type 2
Última actualización 9 Dec 2022
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Neurofibromatosis type 2 is a disorder characterised by the growth of noncancerous tumours in the nervous system. The most common tumours associated with neurofibromatosis type 2 are called vestibular schwannomas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumours that form on the membrane that covers the brain and spinal cord (meninges) are also common in neurofibromatosis type 2. These tumours are called meningiomas. Tumours can also occur on other nerves or tissues in the brain or spinal cord in people with this condition.
Descripción
Neurofibromatosis type 2 is a disorder characterised by the growth of noncancerous tumours in the nervous system. The most common tumours associated with neurofibromatosis type 2 are called vestibular schwannomas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumours that form on the membrane that covers the brain and spinal cord (meninges) are also common in neurofibromatosis type 2. These tumours are called meningiomas. Tumours can also occur on other nerves or tissues in the brain or spinal cord in people with this condition.
The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. Less commonly, vestibular schwannomas cause facial weakness or paralysis. In most cases, these tumours occur in both ears (bilaterally) by age 30. If tumours develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumour growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
BANF
Bilateral acoustic neurofibromatosis
Central neurofibromatosis
Familial acoustic neuromas
Neurofibromatosis 2
Neurofibromatosis type 2 merlin
Neurofibromatosis type II
NF2
Schwannoma, acoustic, bilateral
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Lecturas adicionales y referencias
- Neurofibromatosis type 2; MedlinePlus, National Library of Medicine.
- Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR. Neurofibromatosis type 2. Lancet. 2009 Jun 6;373(9679):1974-86. doi: 10.1016/S0140-6736(09)60259-2. Epub 2009 May 22.
- Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010 Feb;152A(2):327-32. doi: 10.1002/ajmg.a.33139.
- Evans DG. Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis. 2009 Jun 19;4:16. doi: 10.1186/1750-1172-4-16.
- Evans DG. NF2-Related Schwannomatosis. 1998 Oct 14 [updated 2023 Apr 20]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1201/
- Evans GR, Lloyd SKW, Ramsden RT. Neurofibromatosis type 2. Adv Otorhinolaryngol. 2011;70:91-98. doi: 10.1159/000322482. Epub 2011 Feb 24.
- Hoa M, Slattery WH 3rd. Neurofibromatosis 2. Otolaryngol Clin North Am. 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005.
- Ruggieri M, Iannetti P, Polizzi A, La Mantia I, Spalice A, Giliberto O, Platania N, Gabriele AL, Albanese V, Pavone L. Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics. 2005 Feb;36(1):21-34. doi: 10.1055/s-2005-837581.
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