大前庭导水管综合征

目的:探讨大前庭导水管综合征的发病、临床表现及防治措施。方法:对18例经高分辨率CT证实为双侧大前庭导水管综合征患者的诊疗过程进行回顾性分析。结果:同一患者,管径大患耳较管径小患耳的听力损失重;不同患者管径大小与听力损失程度无关。耳声发射测定结果波动大,经颞骨CT扫描证实均为大前庭导水管综合征。结论:大前庭导水管综合征是一种独立的疾病,极易误诊,对临床上有波动性进行性听力下降、轻微的头颅外伤引起严重的听力下降的患者或声发射测定结果波动较大的感音神经性聋患者,应常规进行颞骨高分辨率CT扫描,以明确诊断,对已经证实的患者应积极进行干预治疗,尽可能地保存患者的残余听力。     

家族性大前庭导水管综合征

大前庭导水管综合征（LVAS）以前庭导水管扩大伴感音神经性耳聋为特征，是一种独立的临床病症。其典型表现为双耳受累，耳聋发生于儿童期，呈进行性加重，听力水平可由正常发展到重度聋，头部创伤可诱使听力急骤下降，约1／3患者有前庭症状，表现为发作性眩晕或不稳感。以往报告均为单个散发病例，该作者报告一家族性LVAS，对其临床、听力学、前庭功能、细胞遗传学及放射学等方面进行研究。先证者为6岁男童，出生后父母发现双耳听力不良，并逐渐加重，缺乏良好的协调运动技能，经常跌跤。颅面发育正常，鼓膜完整，听骨无畸形，前庭功能…     

高压氧疗治疗大前庭导水管综合征患儿急性听力丧失九例

目的 目的探讨高压氧疗治疗大前庭导水管综合征患儿急性听力丧失的临床效果。 方法 对急性听力丧失的大前庭导水管综合征患者9例11耳,进行为期2周共10次高压氧治疗。 结果 患儿均耐受良好,治疗后复查纯音听阈测试,提示患耳听阈均有明显改善。 结论 9例患儿对高压氧疗耐受良好,治疗效果显著,高压氧疗可以成为大前庭导水管综合征急性听力丧失患者的治疗方法之一。     

突发听力下降的大前庭导水管综合征一例

大前庭导水管综合征发病率低 ,报道较少 ,其病史特点是自幼双耳渐进性听力下降。因无其他特征性的临床表现 ,在做适当的影像学检查之前 ,难与其他原因引起的双侧耳聋相鉴别。现报告一例病程 10年 ,2次突发听力下降的大前庭导水管综合征患者。1　　病例报告患者男性 ,15岁 ,2 0 0 1年 6月 18日因右耳听力突然下降 ,以“突发性聋”收入院。患者无眩晕、耳鸣、耳毒性药物使用、外伤及耳流脓史。家长述患者自幼听力差 ,5岁后听力下降更明显 ,曾在其它医院住院治疗 ,治疗情况不明 ,发病前左耳全聋 ,右耳听力差 ,但能与他人交流。体检 :右耳戴助听…     

单侧人工耳蜗植入术前后双耳残余听力变化的初步研究

目的 通过观察单侧人工耳蜗植入术后儿童双耳残余听力情况,分析其变化趋势,探讨各种可能的影响因素。 方法 将29例单侧人工耳蜗植入的重度极重度感音神经性耳聋儿童纳入研究,根据术前颞骨CT分为A组(有大前庭导水管综合征)和B组(非大前庭导水管综合征),分别于术前、术后1周、开机时、术后半年定期进行裸耳纯音测听,比较植入耳残余听力保存情况及非植入耳残余听力的变化。 结果 患儿术前双耳均不同程度存在残余听力,术后均定期行纯音测听或行为测听,各频率仍部分存有残余听力,主要分布在低频区,且随频率升高其残余听力保留率逐渐下降,各频率残余听力保留率之间差异有统计学意义(Wald χ2=16.980, P=0.001);植入耳与非植入耳各频率残余听力保留率之间差异有统计学意义(Wald χ2=10.031, P=0.002);术前后各时间节点残余听力保留率之间差异无统计学意义(Wald χ2=3.384, P=0.336); AB两组之间残余听力保留率之间差异无统计学意义(Wald χ2=0.906, P=0.341)。 结论 人工耳蜗植入对植入耳残余听力的保留主要分布在低频区;随着植入时间的延长,残余听力可以基本保持;少部分患儿行单侧植入后对非植入耳残余听力有影响;前庭导水管扩大症患儿行单侧耳蜗植入术后,非植入耳残余听力在短期内可有波动。     

大前庭导水管综合征

Valvassori和Clemis 1978年命名大前庭导水管综合征。本文报导17例(33耳)系未合并其它内耳畸形的,均经X线矢状面断层及轴位高分辨CT检查,测试总脚与外口间中点直径超过2mm者(正常0.4～1.0mm),双耳16例,单耳1例。其前庭导水管(VA)直径达2～6mm,临床表现为双耳渐进性感音性聋。6例生后即表现耳聋;8例5岁前发现耳聋;1例8岁     

伴有大前庭水管的突发性聋(附病例报告及文献复习)

目的:探讨不伴耳蜗畸形的大前庭水管综合征的临床表现和高分辨率CT对大前庭管的诊断。方法:报告1例18岁男性患者从2岁时开始患双耳感音神经性听力损失,2001年1月和11月两耳先后出现突发性聋;颞骨轴位高分辨率CT扫描示双侧前庭水管扩大,不伴耳蜗畸形。此外并进行了文献复习。结果:不伴耳蜗畸形的大前庭水管综合征可出现后天性感音神经性听力损失,并有突发性聋的危险。结论:对儿童时期发生的不明原因的感音神经性听力损失或(和)突发性聋,应行高分辨率CT扫描,以了解是否存在不伴耳蜗畸形的大前庭水管综合征。     

大前庭导水管综合征12例诊治分析

大前庭导水管综合征(LVAS)是以前庭导水管扩大伴感音神经性耳聋为特征的一种独立临床病症.近年来随着听力测试与影像诊断技术的发展,对该病的报道增多,国内外有人认为其已是最常见的先天性内耳畸形[1],并以青少年多见,危害较大.本文就我院对该病患者诊治的经验,且结合文献进行初步探讨,以供同行参考.     

内耳先天性畸形102例临床分析

报道１０２例（２００耳）内耳先天性畸形的临床分析。此类患儿多为双侧重度听力损失或全聋，３／４患儿于一岁以内即被家长发现耳聋，其中４７例（４６％）患儿的母亲有妊娠早期感冒史。采用高分辨内耳ＣＴ检查，其颞骨畸形大致分为五型：①Ｍｉｃｈｅｌ型，１６耳；②Ｍｏｎｄｉｎｉ型，１５５耳；③前庭导水管扩大畸形，１６耳；④耳蜗导水管发育畸形，１２耳；⑤内耳道发育畸形，１耳。值得指出的是多数先天性内耳畸形伴有前庭或前庭导水管畸形。     

斑马鱼Slc26A4基因敲除品系的构建

目的 SLC26A4是大前庭水管综合征(enlarged ves-tibular aqueduct syndrome,EVAS)的致病基因,也是中国第二位致聋基因.研究发现SLC26A4突变能够导致Pendred综合征(PS),包括甲状腺肿、听力丧失和前庭导水管增大,但其具体的分子机制尚不清楚.为了研究该基因在内耳发育...     

Advanced techniques in magnetic resonance imaging in the evaluation of the large endolymphatic duct and sac syndrome

The purpose of this report is to compare temporal bone computed tomography (CT) to high-resolution magnetic resonance (MR) imaging using a novel thin-section fast spin echo (FSE) pulse sequence in identifying and characterizing patients with large vestibular aqueduct syndrome. Sixteen patients with sensorineural hearing loss and a CT diagnosis of large vestibular aqueduct(s) underwent high-resolution fast spin echo magnetic resonance imaging with dual, 3-in phased array receiver coils centered over the external auditory canals. Magnetic resonance imaging parameters included axial and oblique sagittal fast spin echo with an effective slice thickness of 1 mm contiguous. Thirty-eight patients with 76 normal inner ears who underwent MR imaging using this technique had their endolymphatic duct measured. MR alone identified the enlarged endolymphatic sac seen along with the large endolymphatic duct in all cases. Three cases (five inner ears) with enlarged bony vestibular aqueducts on CT showed no evidence of endolymphatic duct or sac enlargement on MR. MR alone identified a single case of mild cochlear anomaly in conjunction with an enlarged endolymphatic duct and sac. In the normal population the size of the normal endolymphatic duct at its midpoint measured from 0.1 to 1.4 mm. Thin-section, high-resolution fast spin echo MR imaging of the inner ear may be superior to CT in the evaluation of patients with the large vestibular aqueduct syndrome.     

Enlarged vestibular aqueduct syndrome in patients with hypoacusis and deafness

In 1978 Valvassori and Clemis have reported that enlarged vestibular aqueduct can cause progressive perceptive hearing loss and finally deafness. AIM: Analysis of CT scans of patients with cochlear implants. Analysis of radiological data of 120 implanted patients was performed. CT examinations were performed during qualification to cochlear implantation. Most of the CT scans were performed using high resolution computed tomography (HRCT). A special attention was paid to patients with progressive perceptive hearing loss and CT of two patients with "gusher" during CI surgery. In one case (6-years old girl with bilateral profound perceptive hearing loss diagnosed in 2nd year of age) an enlarged vestibular aqueduct was found radiologically. In the second case (16 years old girl with progressive perceptive hearing loss since 1st year of age) no enlarged vestibular aqueduct was detected. Diagnostics and treatment of enlarged vestibular aqueduct syndrome are presented.     

Radiological study of temporal bone in children with profound deafness before cochlear implant: CT vs magnetic resonance imaging]

OBJECTIVE: To evaluate the clinical application of magnetic resonance imaging (MRI) and CT in children with profound deafness before cochlear implant and their impact on surgical decision. METHODS: The pre-operative CT and MRI data from 71 children with bilateral profound deafness planned for cochlear implant were studied. RESULTS: 12 patients showed enlarged vestibular aqueduct (16.9%); 14 patients had Mondini malformation (19.7%); 3 patients demonstrated enlarged internal auditory meatus (4.2%); and 2 patients were suspected to have fistulae (2.8%) on both CT and MRI examinations. In comparison between MRI and CT, unilateral cochlear fibrosis was detected in 5 patients(7%) by MRI, but none by CT scans. Bilateral dehiscent facial nerve was detected in 1 patient(1.4%) by CT scan, while MRI was normal. CONCLUSION: CT and MRI are essential for the pre-operative planning of cochlear implant, especially in patients with enlarged vestibular aqueduct, Mondini malformation, enlarged internal auditory meatus and suspected fistulae. These two imaging modalities are complementary to each other in cases with cochlear fibrosis and facial nerve dehiscence.     

Vestibular Disturbance in Patients with Large Vestibular Aqueduct Syndrome (LVAS)

Large vestibular aqueduct syndrome (LVAS) is a common inner ear anomaly responsible for some unusual vestibular and audiological symptoms. The gross appearance of CT scan of the inner ear is generally normal. However, precise measurement of the inner ear components reveals abnormal dimensions, which may account for accompanying auditory or vestibular dysfunction. It has been reported that sudden increase in cerebrospinal fluid pressure can cause further deterioration of hearing due to transmission of pressure to the inner ear through the enlarged vestibular aqueduct. However, vestibular function is not often studied. In this report, audiovestibular function of 10 patients with large vestibular aqueducts was analysed and compared with the severity of the radiological deformity. The literature was reviewed and typical findings were discussed to emphasize varying aspects of audiovestibular function. It was found that some patients with LVAS have some spontaneous or provoked vestibular disturbance such as vertigo after watching revolving objects. The mean value of electronystagmographic abnormality in patients with hearing loss is greater than in patients with normal hearing. However, there is no statistical correlation between the level of hearing loss, electronystagmographic abnormality and severity of radiological deformity.     

Vestibular disturbance in patients with large vestibular aqueduct syndrome (LVAS)

Large vestibular aqueduct syndrome (LVAS) is a common inner ear anomaly responsible for some unusual vestibular and audiological symptoms. The gross appearance of CT scan of the inner ear is generally normal. However, precise measurement of the inner ear components reveals abnormal dimensions, which may account for accompanying auditory or vestibular dysfunction. It has been reported that sudden increase in cerebrospinal fluid pressure can cause further deterioration of hearing due to transmission of pressure to the inner ear through the enlarged vestibular aqueduct. However, vestibular function is not often studied. In this report, audiovestibular function of 10 patients with large vestibular aqueducts was analysed and compared with the severity of the radiological deformity. The literature was reviewed and typical findings were discussed to emphasize varying aspects of audiovestibular function. It was found that some patients with LVAS have some spontaneous or provoked vestibular disturbance such as vertigo after watching revolving objects. The mean value of electronystagmographic abnormality in patients with hearing loss is greater than in patients with normal hearing. However, there is no statistical correlation between the level of hearing loss, electronystagmographic abnormality and severity of radiological deformity.     

Enlarged vestibular aqueduct: looking for genotypic–phenotypic correlations

The aim of this work is to provide a guide for clinical and genetic diagnosis and classification of the enlarged vestibular aqueduct syndrome based on a review of the literature and computerized databases with the words large and enlarged vestibular aqueduct. No more than 40 articles described association between the EVA phenotype and a known genetic alteration. Pendred’s syndrome, distal renal tubular acidosis, waardenburg’s syndrome, X-linked congenital mixed deafness, branchio-oto-renal syndrome, and oto-facio-cervical syndrome can express their genotypic alteration as enlarged vestibular aqueduct syndrome. We also found articles reporting familiar cases of enlarged vestibular aqueduct with no identified mutations in studied genes.     

CT与磁共振成像在儿童人工耳蜗植入术前研究

目的　评价CT与磁共振成像 (magneticresonanceimaging ,MRI)在儿童人工耳蜗植入术前的诊断作用 ,以及对手术选择的影响。方法　 71例 ( 142耳 )双耳重度耳聋、拟行人工耳蜗植入的患儿进行术前CT与MRI检查。结果　CT与MRI均发现 ,12例 ( 2 2耳 )患者有前庭水管扩大 ( 15 5 % ) ;14例 ( 2 5耳 )患儿有Mondini畸形 ( 17 6% ) ;3例 ( 5耳 )患儿有内耳道扩大 ( 3 5 % ) ;2例 ( 4耳 )患者有可疑内耳道底骨质缺损 ( 2 8% )。MRI发现有 5例 ( 5耳 )患者单侧耳蜗纤维化 ( 3 5 % ) ,而CT未见异常。1例 ( 2耳 )患儿的CT显示面神经裸露 ( 1 4% ) ,MRI正常。结论　人工耳蜗植入术前应该进行CT与MRI检查。对于发现前庭水管综合征、Mondini畸形、内耳道扩张及内耳道底骨质缺损有重要意义。这二种影像学检查结果可以相互补充诊断耳蜗纤维化与面神经裸露。对手术适应证的选择以及保证手术正常进行有重要意义     

前庭水管扩大综合征患者的人工耳蜗植入术

目的 评价前庭水管扩大综合征患者人工耳蜗植入术的安全性和可行性。方法 1995年5月1日～2002年6月1日因双耳重-极重度感音神经性聋在北京协和医院接受人工耳蜗植入术的患者312例中诊断为双耳前庭水管扩大者10例(3．2％)，其中语前聋7例，语后聋3例。回顾性分析这10例患者的临床资料。结果 10例患者人工耳蜗电极植入顺利，8例耳蜗底回开窗时发生轻度井喷，迅速用颞肌筋膜牢固封闭圆窗制止井喷。全部患者术后未出现脑脊液漏、颅内感染、面瘫、中耳炎等并发症。开机6个月时8例患者具有开放性言语识别力，已进入普通学校(幼儿园、小学、大学)就读。另2例语前聋的幼儿视觉强化测听听阈达40dB HL，与其他无内耳畸形的全聋儿童术后效果差异无显著性。全聋前语言能力较好的5例患者术后语言能力明显好于语前聋的患者，语言交流基本听不出聋人特有的语音特征。另5例患者语言均有不同程度的进步。结论 尽管前庭水管扩大患者在人工耳蜗植入术中可能出现井喷，但术后未出现并发症且听力-言语康复效果好，因此重-极重度聋的前庭水管扩大综合征患者行人工耳蜗植入术是安全可行的。     

Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome

OBJECTIVES/HYPOTHESIS: The objectives were to correlate audiometric thresholds with radiological findings and to determine the prevalence of inner ear radiological abnormalities in patients with hearing loss and Waardenburg syndrome. STUDY DESIGN: The study was a retrospective review of patients with Waardenburg syndrome identified in a pediatric hearing-impaired population and human genetics clinic. METHODS: Nine children with Waardenburg syndrome were identified. Eighty-nine children without sensorineural hearing loss served as control subjects. Clinical data, audiometric thresholds, and radiographic temporal bone measurements in these children were analyzed. RESULTS: Seven children were identified with hearing loss and Waardenburg syndrome. Four children had Waardenburg syndrome type 1, and three children had Waardenburg syndrome type 2. The overall prevalence of hearing loss in the total study population with Waardenburg syndrome was 78%. The mean pure-tone average was 99 dB. All of the children had sensorineural hearing loss. The hearing outcome was stable in 86% of the children. Twelve temporal bones were available for radiological analysis by computed tomography. Enlargement of the vestibular aqueduct was found in 50% of the CT scans. There was a significant difference in measurements of vestibular aqueduct width at the midpoint between the patients with Waardenburg syndrome and the control group (P <.05). There were also significant differences in the measurements of the vestibule (P =.0484), internal auditory canal (P =.0092), and modiolus (P =.0045) between the children with Waardenburg syndrome and the control group. CONCLUSION: A profound sensorineural hearing loss was characteristic of the study population with Waardenburg syndrome. Overall, 100% of patients with hearing loss and Waardenburg syndrome had temporal bone anomalies on at least one measurement of their inner ear, and 50% had an enlargement of the vestibular aqueduct at the midpoint. As shown by computed tomography, enlargement of the vestibular aqueduct and the upper vestibule, narrowing of the internal auditory canal porus, and hypoplasia of the modiolus are features of Waardenburg syndrome.     

前庭水管扩大综合征患者的人工耳蜗植入术

目的　评价前庭水管扩大综合征患者人工耳蜗植入术的安全性和可行性。方法　 1995年 5月 1日～ 2 0 0 2年 6月 1日因双耳重 极重度感音神经性聋在北京协和医院接受人工耳蜗植入术的患者 312例中诊断为双耳前庭水管扩大者 10例 (3 2 % ) ,其中语前聋 7例 ,语后聋 3例。回顾性分析这 10例患者的临床资料。结果　 10例患者人工耳蜗电极植入顺利 ,8例耳蜗底回开窗时发生轻度井喷 ,迅速用颞肌筋膜牢固封闭圆窗制止井喷。全部患者术后未出现脑脊液漏、颅内感染、面瘫、中耳炎等并发症。开机 6个月时 8例患者具有开放性言语识别力 ,已进入普通学校 (幼儿园、小学、大学 )就读。另 2例语前聋的幼儿视觉强化测听听阈达 4 0dBHL ,与其他无内耳畸形的全聋儿童术后效果差异无显著性。全聋前语言能力较好的 5例患者术后语言能力明显好于语前聋的患者 ,语言交流基本听不出聋人特有的语音特征。另 5例患者语言均有不同程度的进步。结论　尽管前庭水管扩大患者在人工耳蜗植入术中可能出现井喷 ,但术后未出现并发症且听力 言语康复效果好 ,因此重 极重度聋的前庭水管扩大综合征患者行人工耳蜗植入术是安全可行的