耳鼻咽部多发性神经纤维瘤病

目的 探讨耳鼻咽部多发性神经纤维瘤病（neurofibromatosis,NF）的病理、临床表现及诊断和治疗。方法 回顾性分析温州医学院第一医院1989－2000年间收治的11例NF的临床资料，其中鼻－鼻窦与咽旁间隙（NFI型）分别有5例和2例，双侧听神经瘤（NFⅡ例）4例。结果。所有病例病程普遍较长（2－30年）。两型NF的临床表现既菜共性（皮下结节、色素斑、虹膜Lisch结节），又有其独自的特点。所有病例均于全身麻醉下手术切除：鼻侧切进路切除鼻－鼻窦NF，颈侧切开进路切除咽旁间隙NF，乙状窦后枕下进路切除一侧听神经瘤（其中1例分期双侧切除）。无死亡。结论 手术是治疗NF的最佳条件，对范围广、边界不清及复发的鼻－鼻窦NF可考虑术后放射治疗；双侧听神经瘤应尽量避免双侧同时切除。     

神经纤维瘤病 Ⅱ 型的临床特点及听觉脑干植入

目的 探讨神经纤维瘤病Ⅱ型(neurofibromatosis type 2,NF2)的临床特点、治疗方法以及听觉脑干植入(auditory brainstem implant,ABI)后的效果.方法 回顾性分析1例双侧听神经瘤(NF2)患者的诊疗经过及ABI术后6、9、12、24、36个月的听力言语康复效果.结果 患者,男,13岁,因右耳听力下降及耳鸣3年伴步态不稳,声音嘶哑就诊,患者曾接受过腰椎椎管内神经纤维瘤切除病史,MRI检查示双侧桥小脑角区占位病变,临床诊断为NF2;经fishey入路分次切除双侧听神经瘤,术后病理诊断均为神经鞘膜瘤,术后2年行左耳ABI手术,ABI术后又先后接受过气管神经纤维瘤、腹膜后细胞性神经鞘瘤切除术.ABI术后开机调试时所有电极均能引出听觉反应,随着康复时间的延长,患者对自然环境声响、元音、单音节词的正确识别率均呈上升趋势,纯音听阈值逐渐降低,术后6、9、12、24、36个月元音的正确识别率分别为14%、18%、20%、24%、35%,单字词的正确识别率分别为5%、7%、10%、14%、20%;但双音节词及开放语句识别率均为0.结论 NF2多发生在青少年,治疗应遵循个体化原则,手术切除双侧听神经瘤仍是首选的方法,ABI对于双侧听神经瘤切除术后患者听力重建是一种很好的选择,术中准确定位耳蜗核是手术成功的关键.     

神经纤维瘤病Ⅱ型的治疗

目的　探讨神经纤维瘤病Ⅱ型 (双侧听神经瘤 )的临床特征及治疗决策。方法　回顾性分析 1990年 1月～ 1998年 12月收治的 7例双侧听神经瘤的临床资料。结果　双侧听神经瘤占全部听神经瘤的 5 .8% (7/ 12 2 )。 7例中 ,男 6例 ,女 1例 ;年龄 13～ 6 0岁 (年龄中位数为 2 9 1岁 )。首发症状听力下降及耳鸣 4例 ,斜视和上睑下垂、头痛、步态不稳各 1例。 6例合并有中枢和 /或其它部位神经瘤 ,5例合并皮肤咖啡色斑 ,1例合并晶状体后囊混浊斑。重型 5例 ,轻型 2例。 4例行单侧听神经瘤切除术 ,术后 1例因中枢性呼吸衰竭死亡 ;2例间隔 3周行双侧听神经瘤切除术 ,术后 1例因脑水肿颅高压死亡。手术径路 1例 (1耳 )经迷路后 ,术后无听力受损及面瘫 ;5例 (7耳 )经乙状窦后 ,术后成活的 3例 (4耳 )中 ,4耳术后听力受损 ,3侧有面神经部分或全部麻痹。结论　双侧听神经瘤即神经纤维瘤病Ⅱ型的临床特征和治疗不同于单侧听神经瘤 ,治疗决策对每人及不同阶段应酌情而定。为了避免手术致听力受损和面瘫 ,建议术中监护第Ⅶ、Ⅷ颅神经功能     

神经纤维瘤病Ⅱ型(附1例报告)

目的：提高对神经纤维瘤病Ⅱ型（NF2）的病因、临床表现、诊断及治疗的认识。方法：结合文献复习,分析我院收治的1例NF2患者的临床资料,并对该例患者行左侧小脑桥脑角肿瘤切除术。结果：该患者患病年龄较早,出现临床症状较晚,首发症状为渐进性听力下降伴耳鸣,头颅MRI示双侧小脑桥脑角占位性病变,双侧海绵窦区及双侧颈部多发结节。组织病理性质为神经鞘膜瘤。术后左耳全聋,左侧不完全性周围性面神经麻痹,House-Brackmann分级Ⅱ级。结论：NF2为常染色体显性遗传疾病,临床上以双侧听神经瘤为主要特征。早期诊断和治疗对患者的听力和生命的保护至关重要。MRI扫描为目前诊断NF2的金标准。     

鼻窦骨化纤维瘤手术探讨

目的　探讨鼻窦骨化纤维瘤的手术进路 ,分析各种手术的方法和特点。方法　回顾性分析我院 1994年 8月～ 2 0 0 1年 7月治疗的鼻窦骨化纤维瘤 35例的临床资料。结果　 35例中男 2 3例 ,女 12例 ,年龄 2～ 4 5岁 ,平均 17 1岁。手术方式包括鼻侧切开手术、鼻内镜下手术、冠状切口颅骨切开手术 (包括冠状切口颅骨切开联合鼻内镜下手术及冠状切口颅骨切开联合鼻侧切开手术 )、Caldwell Luc进路手术。鼻内镜下手术 2 2例 ,彻底切除 8例 ,部分切除 14例。 2例在影像导航辅助下手术。鼻侧切开手术 6例 ,彻底切除 4例 ,部分切除 2例。冠状切口颅骨切开手术 5例 ,彻底切除 2例 ,部分切除 3例 ,有 2例联合鼻内镜下手术 ,1例联合鼻侧切开手术。Caldwell Luc进路手术 2例 ,均为部分切除。 35例患者随访 33例 ,失访 2例 ,平均随访时间 3 5年。结果 14例无复发 ,14例带瘤生存 ,5例复发后再次手术。结论　鼻窦骨化纤维瘤手术进路的选择主要依据病变范围 ,同时要考虑器官结构的功能、美容、手术的难易程度以及术者的经验和习惯等。     

神经纤维瘤病及其耳科临床表现

报告以双侧听神经瘤为主要表现的神经纤维瘤病Ⅱ型４例，其中１例为双侧听神经瘤伴左侧膝状神经节，右侧三叉神经和副神经多发性神经鞘瘤，１例为双侧听神经瘤伴舌下和全身性皮肤神经纤维瘤并有现神经损害，为罕见病例，复习文献对本病的分类，临床表现和诊断进行讨论。     

神经纤维瘤病Ⅱ型基因型与表型研究现况

神经纤维瘤病Ⅱ型(Neurofibromatosis Type 2,NF2)是一种常染色体显性肿瘤易感性综合征,典型临床表现为单侧或双侧听力下降,耳鸣和平衡障碍。前庭神经鞘瘤为该病特征,约95%患者出现双侧前庭神经鞘瘤,许多NF2患者也患有其他组织学上表现为良性的中枢神经系统肿瘤,如脑膜瘤和脊柱内室管膜瘤。该病是由22号染色体上NF2基因的遗传性突变或新发突变引起的。患者面临听力丧失,反复手术切除颅内和脊柱肿瘤,重要功能丧失以及预期寿命缩短。基于基因型与表型相关性研究,早期精准评估患者病情,为患者选择合适干预手段,提供预后相关依据具有重大意义。该篇归纳了NF2基因型与表型相关性研究中的主要进展。     

鼻窦骨化纤维瘤手术探讨

目的 探讨鼻窦骨化纤维瘤的手术进路，分析各种手术的方法和特点。方法 回顾性分析我院1994年8月～2001年7月治疗的鼻窦骨化纤维瘤35例的临床资料。结果 35w例中男23例，女12例，年龄2～45岁，平均17．1岁。手术方式包括鼻侧切开手术、鼻内镜下手术、冠状切口颅骨切开手术(包括冠状切口颅骨切开联合鼻内镜下手术及冠状切口颅骨切开联合鼻侧切开手术)、Cadwell-Luc进路手术。鼻内镜下手术22例，彻底切除8例，部分切除14例。2例在影像导航辅助下手术。鼻侧切开手术6例，彻底切除4例，部分切除2例。冠状切口颅骨切开手术5例，彻底切除2例，部分切除3例，有2例联合鼻内镜下手术，1例联合鼻侧切开手术。Cadwell-Luc进路手术2例，均为部分切除。35例患者随访33例，失访2例，平均随访时间3．5年。结果 14例无复发，14例带瘤生存，5例复发后再次手术。结论 鼻窦骨化纤维瘤手术进路的选择主要依据病变范围，同时要考虑器官结构的功能、美容、手术的难易程度以及术者的经验和习惯等。     

神经纤维瘤病II型与听觉脑干植入

目的探讨神经纤维瘤病II型(neurofibromatosis 2,NF-2)(双侧听神经瘤)的临床特征和治疗方法,以及多道听觉脑干植入(auditory brainstem implant,ABI)对双侧听神经瘤切除术后全聋患者听力康复的应用价值。方法回顾性分析了一神经纤维瘤病II型家系3例患者的发病情况和治疗经过。对其中一例患者在经乙状窦后枕下径路切除第二侧听神经瘤时,将12道ABI(MED-EL公司,奥地利)的电极阵置入第四脑室的侧隐窝内,术中行第79、颅神经监测,并结合电刺激脑干诱发电位以校正电极阵位置。术后2月开机并调试。结果文中3例患者早期症状均是以耳部为主,如耳聋、耳鸣、行走不稳感。听觉脑干植入术后开机调试发现电刺激12个电极均能引起听觉反应,无一个引起非听觉反应。结论双侧听神经瘤的临床特点、治疗方法不同于单侧听神经瘤,治疗方案应遵循个体化原则。多导听觉脑干植入能让因双侧听神经瘤导致全聋的患者产生有意义的听觉,术中电极阵准确地植入到脑干耳蜗核是手术成功的关键。对神经纤维瘤病II型患者家庭成员进行筛查有助于该病的早期发现。     

神经纤维瘤病Ⅱ型的治疗

目的 探讨神经纤维瘤病Ⅱ型（双侧听神经瘤）的临床特征及治疗决策。方法 回顾性分析１９９０年１月～１９９８年１２月收治的７例双侧听神经瘤的临床资料。结果 双侧听神经瘤占全部听神经瘤的５．８％（７／１２２）。７例中,男６例,女１例;年龄１３～６０岁（年龄中位数为２９．１岁）。首发症状听力下降及耳鸣４例,斜视和上睑下垂、头痛、步态不稳各１例。６例合并有中枢和／或其它部位神经瘤,５例合并皮肤咖啡色斑,１例     

Posterior circulation ischemic stroke in childhood and neurofibromatosis type 2

Neurofibromatosis 2 (NF2) is a genetically inherited tumor predisposition syndrome. It predisposes to the development of multiple tumors of the central nervous system including schwannomas, meningiomas and ependymomas. Bilateral vestibular schwannomas (VS) are pathognomonic for the disease. In childhood, non-auditory symptoms often mark the onset of the NF2, such as facial palsy, peripheral neuropathy, and neurosurgical emergencies. In this article, we describe the case of a 6-year-old child presenting with an ischemic brain-stem stroke, who was later diagnosed with NF2. We report the clinical and genetic findings and review the previous literature on vasculopathy reported in association with NF2, with a focus on the symptoms presenting at disease onset. For our case patient, an unpublished germline mutation resulting in frameshift (c.876_877insT) was identified on blood screening. We report our full multidisciplinary assessment with vascular angiography, volumetric MRI and audiometry. Vasculopathy is not currently included in the criteria traditionally used for diagnosis of NF2. We suggest that vascular stroke in childhood may be considered a presenting symptom for NF2.     

Bilateral facial nerve schwannomas

Facial nerve schwannoma is an uncommon tumor and bilateral facial nerve tumors are extremely rare. A case is presented in which neuromas affecting the intracanalicular and labyrinthine portions of both facial nerves occurred. Radiologic assessment demonstrated the origin of these tumors. Eventual tumor involvement of the sole functioning cochlea resulted in the development of total hearing loss. Management entailed symptomatic care and surgical resection. Auditory rehabilitation was attempted using cochlear implantation, but results have not been satisfactory. Genetic screening identified a mutation in the NF2 gene. It is proposed that this patient’s condition should be considered a variant of neurofibromatosis 2 and that bilateral facial neuromas should be included in the clinical criteria for this condition. Received: 22 April 1998 / Accepted: 10 June 1998     

Meningiomas invading the temporal bone with extension to the neck

Meningiomas are the second largest group of brain tumors after gliomas. They account for 13 to 18 per cent of all primary intracranial neoplasms. The majority occur in the cerebral chamber; only 8 to 9 per cent are located in the cerebellar chamber. Meningiomas are hamartomatous, not truly neoplastic tumors, which arise from dural fibroblasts and particularly from arachnoid cells that tend to cluster around the tips of the arachnoid villi. Their preferential sites correspond closely with the locations where arachnoid villi are most frequently encountered, namely, along the major venous sinuses and their contributory veins, at the foramina of exit of the cranial nerves, and where arachnoid cell clusters are found within the trunk or the perineural sheaths of cranial nerves within or adjacent to the basal foramina. Of all intracranial meningiomas, 20 per cent eventually develop an extracranial extension. These extracranial extensions project, in order of decreasing frequency, to 1) the orbit, 2) the external table of the calvaria, 3) the nasal cavity and paranasal sinuses, and 4) the parapharyngeal (cervical) space. Once a meningioma has gained access to the temporal bone, its tendency to extend beyond the confinements of the skull increases to 43 per cent. The most frequent pathway is through the jugular and lacerate foramina into the parapharyngeal space, where it may manifest as a nasopharyngeal, oropharyngeal, retromaxillary, retromandibular, or cervical neck mass. A meningioma in the parapharyngeal area can represent 1) an extracranial extension of a primary intracranial tumor, 2) a neoplasm arising in the jugular foramen, 3) a neoplasm originating from an arachnoid cell cluster within the trunk of a cranial nerve or its perineural sheaths within or near a neural foramen, or 4) a metastasis to a cervical lymph node from a primary intracranial meningioma. Meningiomas extending to the neck are unique because of their tendency toward extracranial expansion, higher incidence of local recurrence, multicentric growth, and frequent combination with other neoplasms of the central nervous system. They are frequently an expression of the central form of neurofibromatosis (von Recklinghausen's disease).     

Bilateral acoustic neurofibromatosis with bilateral multicentric facial schwannomas

A case report of a 20-year-old female with bilateral acoustic neurofibromatosis (NF-2) and bilateral facial schwannomas is presented. Multiple segmental schwannomas were found with clinically intact tissue between each tumoral enlargement in the right parotid region. Translocation (2;8) (p2.4;q2.1) was detected in this patient, and has not been reported in a schwannoma until now. The patient's family would not allow any major surgery to be performed.     

Awake craniotomy for assisting placement of auditory brainstem implant in NF2 patients

Objectives: Auditory brainstem implants (ABIs) may be the only opportunity for patients with NF2 to regain some sense of hearing sensation. However, only a very small number of individuals achieved open-set speech understanding and high sentence scores. Suboptimal placement of the ABI electrode array over the cochlear nucleus may be one of main factors for poor auditory performance. In the current study, we present a method of awake craniotomy to assist with ABI placement.

Methods: Awake surgery and hearing test via the retrosigmoid approach were performed for vestibular schwannoma resections and auditory brainstem implantations in four patients with NF2. Auditory outcomes and complications were assessed postoperatively.

Results: Three of 4 patients who underwent awake craniotomy during ABI surgery received reproducible auditory sensations intraoperatively. Satisfactory numbers of effective electrodes, threshold levels and distinct pitches were achieved in the wake-up hearing test. In addition, relatively few electrodes produced non-auditory percepts. There was no serious complication attributable to the ABI or awake craniotomy.

Conclusions: It is safe and well tolerated for neurofibromatosis type 2 (NF2) patients using awake craniotomy during auditory brainstem implantation. This method can potentially improve the localization accuracy of the cochlear nucleus during surgery.     

累及纵膈的头颈部丛状I型神经纤维瘤病两例

正神经纤维瘤病为原发于神经施万细胞及神经内、外束膜细胞的良性肿瘤,为常染色体显性遗传,其发病机制与等位基因突变、缺失、肿瘤微环境及生长因子作用有关~([1])。美国国家卫生研究院将其分为2种类型:Ⅰ型为多发性神经纤维瘤病,其病变范围广,好发于头颈及四肢屈侧面,颈部的神经纤维瘤大多数来源于迷走神经和颈神经根,肿瘤可延伸至颅内及纵隔内,多表现为面颈部畸形、功能障碍、咽部不适、呼吸困难、吞咽障碍、咽异物感及声嘶等~([2]);     

双侧听神经瘤

目的探讨双侧听神经瘤的临床表现、生长特性及治疗。方法回顾性分析１９８７年６月～１９９７年５月间收治５例双侧听神经瘤的临床资料。结果本病约占全部听神经瘤患者的５％（５／９２）。５例的首发症状均为耳鸣伴听力减退。来诊时除位听神经症状外,有多个颅神经和脑干受累的临床表现。２例有孤立的浅褐色皮肤色素斑,５例有数量不等、分布不一的其它神经纤维瘤。５例中４例行一侧听神经瘤切除术,其中１例术后因脑水肿、高颅压、脑疝死亡。对１例术前、术后颅脑冠状位和轴位ＭＲＩ检查表明,其肿瘤平均每年朝上下、左右方向各生长１．１ｃｍ和０．７ｃｍ。结论双侧听神经瘤的治疗与单侧听神经瘤有不同。