MEDIX, God. 15 Br. 83  •  Autorski pregled  •  Pedijatrija HR ENG

Neurofibromatoza tipa 2 (bilateralni akustički neurinomi ili vestibularni švanomi, centralna neurofibromatoza): od kliničke i genetske dijagnoze do otkrivanja komplikacija i liječenjaNeurofibromatosis type 2 (bilateral acoustic neuroma or vestibular schwannoma, central neurofibromatosis): from clinical and genetic diagnosis to complications and treatment

Zlatko Sabol, Filip Sabol, Matilda Kovač Šižgorić

Neurofibromatoza tipa 2 (NF2) je autosomno dominantan neurokutani poremećaj čiji je kardinalni znak – bilateralni akustički švanom. Ostali znaci NF2 su oftalmološki poremećaji (juvenilna stražnja subkapsularna katarakta), moždani multipli meningeomi, švanomi, ependimomi te švanomi perifernih živaca i kutane manifestacije. Proteinski produkt gena NF2 – merlin/švanomin lokaliziran je na kromosomu 22q12.1. Bolest ima različite kliničke manifestacije od teškog oblika s ranim početkom i brzom progresijom do blažeg oblika s kasnijim početkom i manje agresivnim tijekom. Kirurško liječenje provodi se samo u slučaju simptomatskih lezija. Auditorni implanti moždanog debla morali bi doprinijeti boljitku slušne rehabilitacije u bolesnika s NF2. Bolesnici s potvrđenom te suspektnom dijagnozom, kao i osobe s rizikom za NF2, trebaju biti podvrgnuti posebnim ispitivanjima i praćenju 

Ključne riječi:
neurofibromatoza tipa 2; dijagnoza; komplikacije; liječenje; zdravstvena skrb

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Neurofibromatosis type 2 (NF2) is autosomal dominant neurocutaneous disorder whose hallmark is development of bilateral vestibular schwannomas. Other features of NF2 include ophthalmological disorders (juvenile posterior subcapsular lenticular opacity), multiple meningeomas, schwannomas, ependymomas, localized along the brain, schwannomas of the peripheral nerves and cutaneous manifestations. NF2 tumor suppressor gene encodes merlin/schwannomin, located on cromosome 22q12.1. The disease has a variabile clinical presentation from the severe type having an early and rapid progression to the milder type having a later onset and a less aggressive course. In NF2 only symptomatic lesions are to be treated with surgery. Auditory brainstem implant must be taken into account in hearing rehabilitation in patients with NF2. The affected and suspected patients and at-risk subjects should have the specific diagnostic and follow-up protocols. 

Key words:
neurofibromatosis 2; complications; diagnosis; patient care; therapy