Ailesel Geçişli Nörofibromatozis Tip 2 Sendromu, Olgu Sunumu
Özet
Nörofibromatozis Tip 2 (NF2), genetik yapısı ve klinik özellikleri açısından değişken seyreden, sinir sistemi tümörleri ile karakterize nadir bir hastalıktır. Özellikle vestibüler schwannomlarla bağlantılı olarak işitme kaybı, denge sorunları ve nörolojik semptomlarla kendini gösterir. Hastalığın seyri, semptomların başladığı yaş ve bu semptomların şiddetiyle yakından ilişkilidir. Erken yaşta semptomların başlaması genellikle daha kötü bir prognoza işaret ederken, genetik mutasyonlar hastalığın fenotipik özelliklerini etkiler. Cerrahi ve işitsel rehabilitasyon alanındaki gelişmelere rağmen, tüm hastalarda tam iyileşme sağlanamayabilir. NF2'nin genetik özellikleri ve hastalığın gidişatını etkileyen unsurlar üzerine yapılacak daha fazla araştırma, kişiye özel tedavi yaklaşımlarının geliştirilmesi açısından kritik öneme sahiptir.
Neurofibromatosis Type 2 (NF2) is a rare disease characterized by tumors of the nervous system, with a variable clinical presentation and genetic diversity. It typically presents with hearing loss, balance issues, and neurological symptoms, primarily due to vestibular schwannomas. The progression of the disease is closely related to the age of onset and the severity of symptoms. Early onset is often associated with a worse prognosis, while genetic mutations play a significant role in determining the phenotypic expression of the disease. Despite advancements in surgical techniques and auditory rehabilitation, not all patients achieve full recovery. Further research into the genetic basis of NF2 and the factors influencing its progression is crucial for developing personalized treatment strategies.
Referanslar
Patronas NJ, Courcoutsakis N, Bromley CM, Katzman GL, MacCollin M, Parry DM. Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology. 2001;218(2):434-42.
Evans DGR. Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]. Genetics in medicine. 2009;11(9):599-610.
Lim SH-S, Ardern-Holmes S, McCowage G, de Souza P. Systemic therapy in neurofibromatosis type 2. Cancer treatment reviews. 2014;40(7):857-61.
Tysome JR, Macfarlane R, Durie-Gair J, Donnelly N, Mannion R, Knight R, et al. Surgical management of vestibular schwannomas and hearing rehabilitation in neurofibromatosis type 2. Otology & Neurotology. 2012;33(3):466-72.
Brackmann DE, Fayad JN, Slattery III WH, Friedman RA, Day JD, Hitselberger WE, et al. Early proactive management of vestibular schwannomas in neurofibromatosis type 2. Neurosurgery. 2001;49(2):274-83.
Halliday AL, Sobel RA, Martuza RL. Benign spinal nerve sheath tumors: their occurrence sporadically and in neurofibromatosis types 1 and 2. Journal of neurosurgery. 1991;74(2):248-53.
Welling DB. Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas). The Laryngoscope. 1998;108(2):178-89.
Otsuka G, Saito K, Nagatani T, Yoshida J. Age at symptom onset and long-term survival in patients with neurofibromatosis Type 2. Journal of neurosurgery. 2003;99(3):480-3.
Kuchta J, Behr R, Walger M, Michel O, Klug N, editors. Rehabilitation of hearing and communication functions in patients with NF2. Functional Rehabilitation in Neurosurgery and Neurotraumatology; 2002: Springer.
Referanslar
Patronas NJ, Courcoutsakis N, Bromley CM, Katzman GL, MacCollin M, Parry DM. Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology. 2001;218(2):434-42.
Evans DGR. Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]. Genetics in medicine. 2009;11(9):599-610.
Lim SH-S, Ardern-Holmes S, McCowage G, de Souza P. Systemic therapy in neurofibromatosis type 2. Cancer treatment reviews. 2014;40(7):857-61.
Tysome JR, Macfarlane R, Durie-Gair J, Donnelly N, Mannion R, Knight R, et al. Surgical management of vestibular schwannomas and hearing rehabilitation in neurofibromatosis type 2. Otology & Neurotology. 2012;33(3):466-72.
Brackmann DE, Fayad JN, Slattery III WH, Friedman RA, Day JD, Hitselberger WE, et al. Early proactive management of vestibular schwannomas in neurofibromatosis type 2. Neurosurgery. 2001;49(2):274-83.
Halliday AL, Sobel RA, Martuza RL. Benign spinal nerve sheath tumors: their occurrence sporadically and in neurofibromatosis types 1 and 2. Journal of neurosurgery. 1991;74(2):248-53.
Welling DB. Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas). The Laryngoscope. 1998;108(2):178-89.
Otsuka G, Saito K, Nagatani T, Yoshida J. Age at symptom onset and long-term survival in patients with neurofibromatosis Type 2. Journal of neurosurgery. 2003;99(3):480-3.
Kuchta J, Behr R, Walger M, Michel O, Klug N, editors. Rehabilitation of hearing and communication functions in patients with NF2. Functional Rehabilitation in Neurosurgery and Neurotraumatology; 2002: Springer.
