Iwatate Kensho, Yokoo Takeshi, Iwatate Eriko, Ichikawa Masahiro, Sato Taku, Fujii Masazumi, Sakuma Jun, Saito Kiyoshi
Department of Neurosurgery, Fukushima Medical University, Fukushima City, Japan.
Department of Radiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
World Neurosurg. 2017 Oct;106:653-660. doi: 10.1016/j.wneu.2017.07.036. Epub 2017 Jul 16.
To characterize the clinical features of patients with neurofibromatosis type 2 (NF2) and determine prognostic risk factors for progressive disabilities.
In this retrospective cohort study of the Japanese national NF2 registry between 2009 and 2013, clinical data (demographic, history, oncologic, and neurologic) of 807 patients with a diagnosis of NF2 were analyzed. The overall severity of neurologic disability was assessed using a comprehensive 25-point scoring system encompassing a wide variety of neurologic deficits. In 587 patients in whom longitudinal disability data were available, multivariate logistic regression was performed to identify risk factors for significant progression of disability.
The clinical characteristics of the Japanese NF2 population were heterogeneous. The median age of onset was 24 years (range, 1-80 years), the male:female ratio was 1:1.29, and the initial severity score was 4 (range, 0-22) out of 25 points. A family history of NF2 was present in 33% of the patients. Most frequent clinical features were bilateral cranial nerve VIII nerve sheath tumor (NST) in 87%, spinal NST in 80%, hearing loss in 65%, spinal dysfunction in 50%, intracranial meningioma in 49%, and facial paresis in 36%. The disability score progressed by ≥5 points in 6.1% of patients over the study period. Based on multivariate logistic regression analyses, the significant independent risk factors of progression (P value) included age of onset <25 years (P = 0.015), positive family history (P = 0.007), positive treatment history (P = 0.026), hearing loss (P = 0.014), facial paresis (P = 0.015), blindness (P = 0.011), and hemiparesis (P = 0.025).
The Japanese NF2 population has heterogeneous clinical features. Risk factors for progressive disability include younger age of onset, positive family history, positive treatment history, and specific neurologic deficits.
描述2型神经纤维瘤病（NF2）患者的临床特征，并确定导致进行性残疾的预后风险因素。
在这项对2009年至2013年日本全国NF2登记处进行的回顾性队列研究中，分析了807例诊断为NF2患者的临床数据（人口统计学、病史、肿瘤学和神经学数据）。使用包含多种神经功能缺损的全面25分评分系统评估神经功能残疾的总体严重程度。在587例可获得纵向残疾数据的患者中，进行多因素逻辑回归分析以确定残疾显著进展的风险因素。
日本NF2患者群体的临床特征具有异质性。发病年龄中位数为24岁（范围1-80岁），男女比例为1:1.29，初始严重程度评分为25分中的4分（范围0-22分）。33%的患者有NF2家族史。最常见的临床特征为双侧第八颅神经鞘瘤（NST）占87%、脊柱NST占80%、听力丧失占65%、脊柱功能障碍占50%、颅内脑膜瘤占49%、面部轻瘫占36%。在研究期间，6.1%的患者残疾评分进展≥5分。基于多因素逻辑回归分析，残疾进展的显著独立风险因素（P值）包括发病年龄<25岁（P = 0.015）、家族史阳性（P = 0.007）、治疗史阳性（P = 0.026）、听力丧失（P = 0.014）、面部轻瘫（P = 0.015）、失明（P = 0.011）和偏瘫（P = 0.025）。
日本NF2患者群体具有异质性临床特征。进行性残疾的风险因素包括发病年龄较小、家族史阳性、治疗史阳性以及特定的神经功能缺损。
