Neurofibromatosis 2

ʻO Neurofibromatosis 2 (NF2) kahi maʻi kahi e kū ai nā tumors ma nā ʻalalā o ka lolo a me ka iwi kuamoo (ka ʻōnaehana mānoanoa). Ua hoʻoili ʻia (hoʻoilina) i loko o nā ʻohana.

ʻOiai he inoa like kona me ka neurofibromatosis ʻano 1, he ʻano ʻokoʻa a kaʻawale kēlā.

Hoʻokumu ʻia ka NF2 e ka hoʻololi ʻana i ka gen NF2. Hiki iā NF2 ke hoʻoili ʻia i waena o nā ʻohana i kahi mana autosomal koʻikoʻi. ʻO kēia ke kumu inā loaʻa ka makua NF2 i kekahi makua, loaʻa iā 50% ka manawa o kekahi keiki o kēlā makua e loaʻa ai ke ʻano. Kū kekahi mau hihia o NF2 ke hoʻololi ka ʻāpana iā ia iho. I ka manawa e hāpai kekahi i ka loli, hiki i kā lākou keiki ke 50% loaʻa ke loaʻa iā ia.

ʻO ka hopena pilikia nui ka loaʻa ʻana o ka moʻolelo ʻohana o kēia ʻano.

ʻO nā ʻōuli o NF2 me:

• Nā pilikia kaulike
• Cataract i ka wā ʻōpio
• Nā hoʻololi i ka hihiʻo
• ʻO nā kaha kope kope ma ka ʻili (cafe-au-lait), ʻoi aku ka liʻiliʻi
• Poʻo poʻo poʻo
• Lohe hoʻolohe
• Kani a kani i nā pepeiao
• Nāwaliwali o ka maka

ʻO nā hōʻailona o NF2 pū kekahi:

• ʻO nā kūpeʻe o ka lolo a me ka iwi kuamoo
• Nā tumors e pili ana i ka hoʻolohe ʻana (acoustic)
• ʻOrspala ʻili

Loaʻa i nā hoʻāʻo:

• Ninaninau kino
• Mōʻaukala olakino
• MRI
• CT scan
• Ke hoʻāʻo genetic

Hiki ke nānā ʻia nā Tumo Acoustic, a i ʻole mālama ʻia me ke kahakaha a i ʻole ka radiation.

Hiki ke pōmaikaʻi ka poʻe me kēia maʻi i ke aʻo aʻoaʻo kūlohelohe.

Pono e loiloi pinepine ʻia ka poʻe me NF2 me kēia mau hoʻāʻo.

• MRI o ka lolo a me ka iwi kuamoo
• Loiloi a me ka loiloi i ka haʻiʻōlelo
• Hōʻike maka

Hiki i nā kumuwaiwai aʻe ke hāʻawi i ka ʻike hou aku ma NF2:

• Kumumanaʻo Tumor Foundation - www.ctf.org
• Pūnaewele Neurofibromatosis - www.nfnetwork.org

NF2; Neurofibromatosis acoustic bilateral; ʻO nā schwannomas bilib vestibular; Neolofibromatosis waena

• ʻŌnaehana ʻōnaehana waena a me ka ʻōnaehana ʻōnaehana peripheral

Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndrome. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 614.

Slattery WH. Neurofibromatosis 2. I: Brackmann DE, Shelton C, Arriaga MA, eds. ʻOki kino Otologic. ʻEhā ed. Piladelapia, PA: Elsevier; 2016: chap 57.

ʻO Varma R, ʻo Williams SD. Neurology. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. ʻO Zitelli lāua ʻo Davis 'Atlas o ka Pediatric Physical Diagnosis. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 16.