Neurofibromatosis 2

Neurofibromatosis 2 (NF2) yog kev tsis sib haum xeeb uas cov qog ua rau txoj hlab ntshav ntawm lub paj hlwb thiab txha nraub qaum (lub paj hlwb nruab nrab). Nws kis dhau (tau txais) hauv cov tsev neeg.

Txawm hais tias nws muaj lub npe zoo sib xws rau neurofibromatosis hom 1, nws yog qhov sib txawv thiab cais teeb meem.

NF2 tshwm sim los ntawm kev sib pauv hauv lub gene NF2. NF2 tuaj yeem txuas dhau los ntawm cov tsev neeg nyob hauv tus qauv autosomal tseem ceeb. Qhov no txhais tau tias yog ib tus niam txiv muaj NF2, ib tus menyuam ntawm tus niam txiv ntawd muaj feem 50% ntawm kev muaj feem ntawm qhov muaj mob. Qee zaum ntawm NF2 tshwm sim thaum lub gene hloov zuj zus ntawm nws tus kheej. Thaum ib tug neeg nqa lub keeb hloov, lawv cov menyuam muaj 50% yuav muaj feem los ntawm nws.

Qhov teeb meem tseem ceeb tshaj plaws yog muaj tsev neeg keeb kwm ntawm tus mob.

Cov tsos mob ntawm NF2 suav nrog:

• Cov teeb meem tsis sib npaug
• Cataracts thaum tseem hluas
• Hloov pauv qhov tsis pom kev
• Kas fes-xim cim rau ntawm daim tawv nqaij (café-au-lait), muaj tsawg dua
• Mob taub Hau
• Hnov tsis hnov ​​lus
• Lub suab nrov thiab nrov hauv pob ntseg
• Tsis muaj zog ntawm lub ntsej muag

Cov cim ntawm NF2 suav nrog:

• Cov hlav thiab pob txha caj qaum
• Cov pob ntseg tsis hnov ​​suab (acoustic)
• Daim tawv nqaij hlav

Kev Xeem muaj xws li:

• Kev soj ntsuam lub cev
• Keeb kwm kho mob
• MRI
• Iav scan
• Kev tshuaj ntsuam caj ces

Mob acoustic hlav tuaj yeem pom, lossis kho nrog kev phais mob lossis hluav taws xob.

Cov neeg muaj qhov tsis zoo no yuav tau txais txiaj ntsig los ntawm kev sib tham tawm tswv yim.

Cov neeg uas muaj NF2 yuav tsum tau ntsuas tas li nrog cov kev ntsuam xyuas no:

• MRI ntawm paj hlwb thiab leeg nrob qaum
• Tshuaj ntsuam xyuas kev hnov ​​lus thiab hais lus
• Qhov muag ntsuam xyuas

Cov khoom siv hauv qab no tuaj yeem muab cov ntaub ntawv qhia ntxiv ntawm NF2:

• Cov Me Nyuam Lub Tumor Foundation - www.ctf.org
• Neurofibromatosis Network - www.nfnetwork.org

NF2; Ob leeg sib nqus acoustic neurofibromatosis; Ob Leeg vestibular schwannomas; Cov neurofibromatosis Nruab Nrab

• Nruab nrab hauv lub paj hlwb thiab lub paj hlwb peripheral

Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 614.

Qaug Zog WH. Neurofibromatosis 2. Hauv: Brackmann DE, Shelton C, Arriaga MA, eds. Kev Kho Mob OtologicCov. 4 tug ed. Philadelphia, PA: Elsevier; 2016: chap 57.

Varma R, Williams SD. Neurology. Hauv: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli thiab Davis 'Atlas Kev Kuaj Mob Rau Menyuam yausCov. 7 tus ed. Philadelphia, PA: Elsevier; 2018: chap 16.