I-Neurofibromatosis 2

I-Neurofibromatosis 2 (NF2) yisifo lapho izicubu zakha khona emithanjeni yobuchopho nomgogodla (uhlelo oluphakathi lwezinzwa). Idluliselwa phansi (izuzwe njengefa) emindenini.

Yize inegama elifanayo nohlobo 1 lwe-neurofibromatosis, yisimo esihlukile futhi esihlukile.

I-NF2 idalwa ukuguquka kwezakhi zofuzo ku-NF2. I-NF2 ingadluliselwa emindenini ngephethini ephezulu ye-autosomal. Lokhu kusho ukuthi uma umzali oyedwa ene-NF2, noma iyiphi ingane yalowo mzali inethuba elingu-50% lokuzuza lesi simo. Ezinye izimo zeNF2 zenzeka lapho isakhi sashintsha ngokwaso. Uma umuntu ephethe ushintsho lofuzo, izingane zakhe zinethuba elingama-50% lokuzuza njengefa.

Ingcuphe enkulu yokuba nomlando waleso simo emndenini.

Izimpawu ze-NF2 zifaka:

• Izinkinga zebhalansi
• I-cataract isencane
• Izinguquko embonweni
• Amamaki anekhofi esikhumbeni (i-café-au-lait), angavamile
• Ukuphathwa ikhanda
• Ukulahlekelwa ukuzwa
• Ukukhala nemisindo ezindlebeni
• Ubuthakathaka bobuso

Izimpawu zeNF2 zifaka:

• Izimila zobuchopho nezomgogodla
• Izicubu ezihlobene nokuzwa (i-acoustic)
• Izimila zesikhumba

Izivivinyo zifaka:

• Ukuhlolwa komzimba
• Umlando wezokwelapha
• I-MRI
• Iskena se-CT
• Ukuhlolwa kofuzo

Izicubu ze-Acoustic zingabonakala, noma ziphathwe ngokuhlinzwa noma ngemisebe.

Abantu abanalesi sifo bangahlomula ngokwelulekwa ngezakhi zofuzo.

Abantu abane-NF2 kufanele bahlolwe njalo ngalezi zivivinyo:

• I-MRI yobuchopho nentambo yomgogodla
• Ukuzwa nokuhlolwa kwenkulumo
• Ukuhlolwa kwamehlo

Izinsizakusebenza ezilandelayo zinganikeza imininingwane eminingi ngeNF2:

• I-Children's Tumor Foundation - www.ctf.org
• Inethiwekhi yeNeurofibromatosis - www.nfnetwork.org

NF2; I-Bilateral acoustic neurofibromatosis; Ama-schwannomas we-bilateral vestibular; I-neurofibromatosis emaphakathi

• Isistimu yezinzwa emaphakathi nesistimu yezinzwa ezungezayo

USahin M, Ullrich N, Srivastava S, Pinto A. Ama-syndromes we-Neurocutaneous. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 614.

Isilayidi WH. I-Neurofibromatosis 2. Ku: Brackmann DE, Shelton C, Arriaga MA, eds. Ukuhlinzwa kwe-Otologic. Umhla wesi-4. IPhiladelphia, PA: Elsevier; 2016: isahluko 57.

UVarma R, uWilliams SD. Neurology. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 16.