Pérez-Grau Marta, Miró Núria, Prades José, Vergés Juan, Lareo Susana, Roca-Ribas Francesc
Unidad de Neurofibromatosis tipo 2, Servicio de ORL, Hospital Universitario Germans Trias i Pujol, Badalona, Barcelona, España.
Acta Otorrinolaringol Esp. 2010 Jul-Aug;61(4):306-11. doi: 10.1016/j.otorri.2009.12.005. Epub 2010 Feb 6.
Type 2 neurofibromatosis (NF2) is an invalidating, inherited, dominant, autosomal disease. It is commonly confused with type 1 neurofibromatosis, although the two disorders are different. All subjects who inherit a mutated NF2 gene will develop the disease, which is characterised by the growth of schwannomas, generally affecting the vestibular nerve bilaterally, as well as meningiomas and other benign central nervous system tumours, before their third decade of life. It is currently possible to identify the NF2 mutation in most affected families. Up to about 20% of NF2 patients with no family history, apparently sporadic cases, are actually individuals with mosaicism for this mutation. Much of the morbidity from these tumours results from their treatment, which is primarily surgical. Small vestibular schwannomas can often be completely resected with preservation of both hearing and facial function. In case of large tumours it is possible to place a cochlear or brain stem implant during the schwannoma surgery. Age at diagnosis, the presence of intracranial meningiomas, and whether the patient was treated at a specialty centre or not, have been cited as the strongest prognostic factors.
2型神经纤维瘤病（NF2）是一种致残性的遗传性常染色体显性疾病。它常与1型神经纤维瘤病相混淆，尽管这两种疾病有所不同。所有继承了突变NF2基因的个体都会发病，其特征是施万细胞瘤生长，通常双侧累及前庭神经，以及脑膜瘤和其他中枢神经系统良性肿瘤，发病年龄多在30岁之前。目前在大多数患病家庭中都能识别出NF2突变。在没有家族病史的NF2患者中，高达20%看似散发的病例实际上是该突变的嵌合体个体。这些肿瘤导致的大部分发病率源于其治疗，主要是手术治疗。小型前庭神经鞘瘤通常可以在保留听力和面神经功能的情况下完全切除。对于大型肿瘤，在神经鞘瘤手术期间可以植入人工耳蜗或脑干植入物。诊断年龄、颅内脑膜瘤的存在以及患者是否在专科中心接受治疗，被认为是最强的预后因素。
