Neurofibromatosis 2

I-Neurofibromatosis 2 (NF2) sisifo apho amathumba enza imithambo-luvo yengqondo kunye nomqolo (inkqubo ye-nervous system). Iyadluliselwa (ifunyenwe njengelifa) kwiintsapho.

Nangona inegama elifanayo kwi-neurofibromatosis yohlobo 1, yimeko eyahlukileyo neyahlukileyo.

I-NF2 ibangelwa kukutshintsha kohlobo lwe-NF2. I-NF2 inokugqithiswa ezantsi kwiintsapho kwipateni ephezulu ye-autosomal. Oku kuthetha ukuba ukuba omnye umzali une-NF2, nawuphi na umntwana walo mzali unethuba lama-50% lokuzuza njengelifa imeko leyo. Ezinye iimeko zeNF2 zenzeka xa uhlobo luguquka lodwa. Nje ukuba umntu aphathe utshintsho lwemfuza, abantwana babo banethuba lokufumana ilifa njenge-50%.

Eyona nto iphambili emngciphekweni wokuba nembali yosapho kwimeko.

Iimpawu zeNF2 zibandakanya:

• Iingxaki zokulinganisela
• I-cataract esemncinci
• Utshintsho kumbono
• Iimpawu ezinemibala yekofu kulusu (i-café-au-lait), azixhaphakanga
• Intloko ebuhlungu
• Ukuphulukana nokuva
• Ukukhala kunye nengxolo ezindlebeni
• Ubuthathaka bobuso

Iimpawu zeNF2 zibandakanya:

• Ubunzima kunye nezidumbu zomqolo
• Izidumba ezinxulumene nokuva (i-acoustic)
• Amathumba esikhumba

Uvavanyo lubandakanya:

• Uvavanyo lomzimba
• Imbali yezonyango
• IMRI
• Ukuskena i-CT
• Uvavanyo lwemfuzo

Amathumba acoustic anokujongwa, okanye anyangwe ngotyando okanye ngemitha.

Abantu abanale ngxaki banokuzuza kwiingcebiso ngemfuzo.

Abantu abane-NF2 kufuneka bavavanywe rhoqo ngezi mvavanyo:

• I-MRI yengqondo kunye nentambo yomqolo
• Ukuva nokuvavanywa kwentetho
• Uvavanyo lwamehlo

Ezi zixhobo zilandelayo zinokubonelela ngolwazi oluthe kratya kwiNF2:

• Isiseko seTumor yaBantwana- www.ctf.org
• Inethiwekhi yeNeurofibromatosis- www.nfnetwork.org

NF2; I-Bilateral acoustic neurofibromatosis; Iingqungquthela ze-vestibular schwannomas; I-neurofibromatosis esembindini

• Inkqubo ye-nervous central kunye ne-peripheral system

Sahin M, Ullrich N, Srivastava S, Pinto A.Ii-syndromes zeNeurocutaneous syndromes. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 614.

Isilayidi WH. Neurofibromatosis 2. Ku: Brackmann DE, Shelton C, Arriaga MA, eds. Utyando lweOtologic. Ngomhla we-4. IPhiladelphia, PA: Elsevier; Ngo-2016: isahluko 57.

UVarma R, uWill SD. Neurology. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 16.