Rev Neurol (Paris). 2007 Sep;163(8):765-77. doi: 10.1016/s0035-3787(07)91459-9.
[Article in French] S Goutagny, D Bouccara, A Bozorg-Grayeli, O Sterkers, M Kalamarides
INTRODUCTION: Neurofibromatosis 2 (NF2) is a rare autosomal dominant disease whose hallmark is the development of bilateral vestibular schwannomas.
STATE OF THE ART: Other features of NF2 include schwannomas, meningiomas, ependymomas, localized along the central nervous system, schwannomas of the peripheral nerves, cutaneous and ophthalmological manifestations. NF2 can be diagnosed in patients without bilateral vestibular schwannoma with sets of diagnostic criteria. Disease phenotype is variable among patients. Main negative prognostic factors are a young age at onset of symptoms and a high number of tumors at diagnosis. NF2 tumor suppressor gene encodes Merlin/Schwannomin, and is also involved in most sporadic schwannomas and meningiomas. Its functions remains largely unknown.
PERSPECTIVES AND CONCLUSIONS: Treatment and follow of NF2 patients up require oto-neurosurgical teams experienced in NF2. Yearly and life time surveillance is mandatory. A clinical screening protocol is suggested. Classically, only symptomatic lesions are to be treated. Some authors advocate an early proactive strategy against vestibular schwannoma in order to preserve hearing. When a treatment is advisable, surgery remains the treatment of choice for tumors. Auditory brainstem implant must be taken into account in hearing rehabilitation.