Ⅱ型神经纤维瘤病随访50年一例报告  

A case of neurofibromatosis type 2 with 50-year follow-up report

作　　者：孙健[1] 杨学军[1] 李罡[1] 纪延伟[1] 王敬纯[1] 

机构地区：[1]天津医科大学总医院神经外科,300052

出　　处：《中国现代神经疾病杂志》2007年第4期369-373,共5页Chinese Journal of Contemporary Neurology and Neurosurgery

摘　　要：目的提高对Ⅱ型神经纤维瘤病的病因、临床表现、诊断和治疗的认识。方法结合文献,复习收治并随访50年的1例Ⅱ型神经纤维瘤病患者的临床资料和影像学资料,总结其疾病的临床演变过程和治疗经过。结果女性患者,53岁,无家族遗传史。临床表现为先后发病的双侧前庭神经许旺细胞瘤,符合Ⅱ型神经纤维瘤病的诊断。34岁时发现右侧前庭神经许旺细胞瘤,行开颅肿瘤切除术,后因肿瘤复发而行γ-刀立体定向放射治疗;42岁时诊断为左侧前庭神经许旺细胞瘤,行γ-刀立体定向放射治疗。影像学随访至今双侧前庭神经许旺细胞瘤无复发。同时存在右侧三叉神经许旺细胞瘤、多发脑膜瘤、脊膜瘤,以及周围神经的神经纤维瘤,神经系统受累广泛。近20年来多次施行手术及γ-刀立体定向放射治疗。病理诊断为前庭神经和三叉神经许旺细胞瘤、过渡型脑膜瘤、纤维型脑膜瘤、神经纤维瘤等。现患者能够生活完全自理,右侧面部感觉减退,右侧耳聋,右侧周围性面神经麻痹,左侧肢体肌力4级。结论Ⅱ型神经纤维瘤病为常染色体显性遗传性疾病,预后差,早期诊断和治疗对保留患者听力、延长生命和提高生活质量至关重要。Objective To recognize the predisposing factors, clinical manifestations, diagnosis and treatment of neurofibromatosis type 2 （NF-2）. Methods A case of admitted NF-2 was followed up with clinical and radiological examinations for 50 years and related literatures were reviewed. The clinical and therapeutic processes of the case were summarized. Results A 53 years old female patient with both sides vestibular nerve schwannomas but without family history was diagnosed as NF-2. She was diagnosed as right vestibular schwannoma when she was 34 years old, and received craniotomy. Due to tumor recurrence, she received γ-knife stereotactic radiosurgery later. When she was 42 years old, a left vestibular schwannoma was found and she received γ-knife treatment again. Tumor recurrence was not seen by radiological follow-up until now. The patient also had right trigeminal schwannoma, multiple meningiomas, meningioma peripheral nerve neurofibromas and extensive nervous system involvement. In recent 20 years, she received operations and γ-knife treatment for many times. The pathologic findings were vestibular nerve schwannoma, trigeminal schwannoma, transitional meningioma, fibrous meningioma, and neurofibroma. Although she suffered with right face hypoesthesia, right ear deafness, right peripheral facial paralysis and Ⅳ grade of muscle test on left limbs, she can still take care of herself completely. Conclusion NF-2 is an autosomal dominant hereditary disease with poor prognosis. Early diagnosis and management of this disease is important for keeping hearing, survival and life quality.

关 键 词：神经纤维瘤病2型 神经外科手术(学) 放射外科手术 随访研究 

分 类 号：R739.4[医药卫生—肿瘤]