Glasscock M E, Hart M J, Vrabec J T
Otology Group, Vanderbilt Medical Center North, Nashville, Tennessee.
Otolaryngol Clin North Am. 1992 Apr;25(2):449-69.
This article has reviewed the genetic disorder, neurofibromatosis 2. The history, nomenclature, genetic etiology, epidemiology, diagnostic criteria, pathogenesis, and presentation of neurofibromatosis 2 have been given. A related but distinctly different disorder, neurofibromatosis 1, has also been described. The diagnostic evaluation of neurofibromatosis 2 has been discussed with an emphasis on the importance of early diagnosis. An analysis of the surgical treatment of bilateral acoustic neuromas as well as nonsurgical therapeutic alternatives has been presented. The results and complications in the operative management of 86 acoustic tumors in 49 patients with neurofibromatosis 2 have been described in detail. The poor immediate hearing results and the even poorer long-term hearing results have been examined in light of the invasive histopathology of these tumors. It has been emphasized that patients with neurofibromatosis 2 and asymptomatic family members require comprehensive, multidisciplined, long-term management.
本文回顾了遗传性疾病——神经纤维瘤病2型。文中介绍了神经纤维瘤病2型的病史、命名、遗传病因、流行病学、诊断标准、发病机制及临床表现。还描述了一种相关但明显不同的疾病——神经纤维瘤病1型。讨论了神经纤维瘤病2型的诊断评估，重点强调了早期诊断的重要性。介绍了双侧听神经瘤的手术治疗分析以及非手术治疗选择。详细描述了49例神经纤维瘤病2型患者86例听神经瘤手术治疗的结果及并发症。鉴于这些肿瘤的侵袭性组织病理学特点，研究了术后即时听力效果不佳以及更差的长期听力效果。强调神经纤维瘤病2型患者及无症状家庭成员需要全面、多学科的长期管理。
