La neurofibromatosis tipo 2 es un raro trastorno genético autonómico dominante, de alta penetrancia, caracterizado por la presencia de schwannomas vestibulares bilaterales. El diagnóstico suele ser tardío, en ausencia de antecedentes familiares y estigmas cutáneos, y presenta hipoacusia neurosensorial grave asociada con signos de alteración neurológica.

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Bibliografía del caso clínico
1. Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet 373:1974-1986, 2009.
2. Evans DGR. Neurofibromatosis Type 2: Genetic and clinical features. Ear Nose Throat J 78(2):97-100, 1999.
3. Slattery WH. Neurofibromatosis type 2. Otolaryngol Clin North Am 48(3):443-460, 2015.
4. Welling D, Bradley MD. Clinical manifestation in the neurofibromatosis type 2 gene in vestibular Schwannomas (acoustic neuromas). Laryngoscope 108:178-189, 1998.
5. Wishart JH. Case of tumours in the skull, dura mater, and brain. Edimburgh Med Surg J 18:393-397, 1822.
6. Evans DGR, Moran A, King A, Saeed S, et al. Incidence of vestibular schwannoma and neurofibromatosis 2 in the north west of England over a 10 year period: higher incidence than previously though. Otol Neurotol 26:93-97, 2005.
7. Evans DGR, Birch JM, Ramsden RT. Paediatric presentation of type 2 Neurofibromatosis. Arch Dis Child 81:496-499, 1999.
8. Baser ME, Friedman JM, Wallace AJ. Evaluation of clinical diagnostic criteria for Neurofibromatosis. Neurology 59:1759-1765, 2002.
9. Mautner VF, Tatagiba M, Lindenau M et al. Spinal tumours in patients with neurofibromatosis type 2: MR imaging study of frecuency, multiplicity and variety. Am J Res J Roentgenol 165:951-955, 1996.
10. Evans DGR, Hudson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. QJ Med 84:603-618, 1992.
11. Ferrer RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 6:340-351, 2007.
12. Mautner FM, Baser ME, Thakkar SD, Feigen UM, et al. Vestibular Schwannoma growth in patients with neurofibromatosis type 2: a longitudinal study. J Neurosurg 96:223-228, 2002.
13. Linthicum FH, Brackmann DE. Bilateral acoustic tumors. Arch Otolaryngol 106:729-733, 1980.
14. Kluwe L, Mautner V, Heinrich B, et al. Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 40:109-114, 2003.
15. Evans DGR, Baser ME, O'Reilly B, et al. Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg 19:5-12, 2005.
16. Lustig LR, Yeagle J, Driscoll Cl. Cochlear implantation in patients with neurofibromatosis type 2 and bilateral vestibular schwannoma. Otol Neurotol 27:512-518, 2006.
17. Elhammady MS, Telischi FF, Morcos JJ. Retrosigmoid approach: indications, techniques, and results. Otolaryngol Clin North Am 45(2):375-397, 2012.
18. Aboukais R, Bonne NK, Baroncini M, Zairi F, Schapira S, Vicent C. Management of multiple tumors in neurofibromatosis type 2 patients. Neurochirurgie 2015.

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