中文摘要：

目的分析2型神经纤维瘤病（NF2）的临床特征，明确临床各因素与预后存在的相关性。方法回顾性分析了175例临床确诊为NF2患者的临床资料、影像学表现及预后。男92例，女83例，家族遗传性患者27例，散发患者148例，平均年龄29：5岁；随访期为1-255个月，生存154例，死亡21例，中位生存时间为（208．4±10．6）个月（95％CI，187．6-229．1）。Kaptan-Meier生存分析法分析各因素对生存时间的影响。结果患者首次出现症状年龄≤19岁和〉19岁的两组的生存率存在明显差异（P=0．006），有或无脊髓肿瘤的生存率存在明显差异（P=0．009）；Cox回归模型分析结果伴随脊髓肿瘤为NF2患者预后的影响因素（P=0．048）。结论NF2临床表型多样且不同个体之间差异大，伴随脊髓肿瘤是患者预后不佳的重要因素。

英文摘要：

Objective To analyse clinical characteristics of neurofibromatosis type 2 （NF2） and evaluate clinical predictors of the risk of mortality in patients of NF2. Methods A total of 175 cases of NF2 patients, confirmed with Manchester criteria for clinical diagnosis of NF2, were retrospectively studied for the clinical manifestations and imaging. Average age of this group was 29. 5 year-old, including 92 males and 83 females. 27 cases were inherited cases and 148 were sporadic cases. During the follow-up from 1 - 255 months, 154 NF2 cases still survive while 21 cases died. The median survival time was 208.4 ± 10. 6 months （95% CI, 187. 6,229. 1 ）. The Kaplan-Meier survival analysis were performed for the survive time, examined with the covariates of age at onset of symptoms, age at diagnosis, sex, inheritance （ new mutation or inherited case）, presence each type of NF2 lesions （ intracranial meningiomas, spinal tumors, peripheral neuropathy and ocular disorders）. Results Group of aged at onset of symptoms groups 〉 19 years was significantly higher survival rate than group of aged ~〈 19 years （ P = 0. 006） ; Patients without spinal tumors had significantly higher survival rate than patients with spinal tumors （ P = 0. 009 ）. Cox proportional hazards regression analysis indicated that presence with spinal tumors was the influencing factors for prognosis of NF2 patients. Conclusions NF2 is a clinically hetereogeneous disease with different phenotypes, presence with spinal tumors was associated with poor survival.