Potencial miogênico evocado vestibular cervical em crianças e adolescentes com aqueduto vestibular alargado: revisão sistemática / Cervical vestibular evoked myogenic potential in children and adolescents with enlarged vestibular aqueduct: systematic review

RESUMO Objetivo Reunir os parâmetros encontrados no potencial miogênico evocado vestibular cervical (cVEMP) em crianças e adolescentes com síndrome do aqueduto vestibular alargado (SAVA) e identificar as possíveis alterações, quando comparados aos valores encontrados em normo-ouvintes da mesma faixa etária. Estratégia de pesquisa Revisão sistemática cadastrada na base PROSPERO, elaborada por meio de busca nos bancos de dados virtuais, a partir dos unitermos selecionados. Critérios de seleção Incluídos artigos científicos disponíveis na íntegra que relataram a avaliação com o uso do cVEMP na faixa etária entre 0 e 18 anos, com diagnóstico de SAVA, sem restrição de idioma e ano de publicação; excluídos estudos em paciente com algum distúrbio, outras patologias otoneurológicas e população fora da faixa etária estimada. Resultados Foram identificados 984 registros, a partir da pesquisa nas bases de dados consultadas e selecionados 5 artigos. Em um total de 133 pacientes que realizaram o cVEMP, foi observada presença de resposta na maioria dos casos, sem diferença significativa nas latências, mas com aumento na amplitude e diminuição nos limiares do cVEMP. Conclusão O teste cVEMP é recomendado na avaliação de crianças e adolescentes com SAVA e as características de aumento na amplitude e diminuição nos limiares podem ser utilizadas como parâmetros clínicos na identificação da referida síndrome, juntamente com a história clínica do paciente e os exames de imagem. No entanto, é imprescindível a realização de mais estudos com o exame cVEMP, ainda, em crianças e adolescentes com SAVA, para a melhor padronização dos valores encontrados, a fim de efetivar o diagnóstico correto.

ABSTRACT Purpose To gather the parameters found in the cervical vestibular evoked myogenic potential (cVEMP) in children and adolescents with enlarged vestibular aqueduct syndrome (SAVA) and identify the possible changes, when compared to the values found in normal hearing people of the same age group. Research strategy Systematic review registered in the PROSPERO database, prepared through a search in virtual databases, based on the selected keywords. Selection criteria Included scientific articles available in full that reported the evaluation using cVEMP in the 0 and 18 years old group , with a diagnosis of SAVA, without restrictions of language and year of publication; Studies on patients with any disorder other than otoneurological ones and populations outside the proposed age range were excluded. Results 984 records were identified from the search in the databases consulted and 5 articles were selected. In a total of 133 patients who underwent cVEMP, the presence of a response was observed in most cases, with no significant difference in latencies, but with an increase in amplitude and a decrease in cVEMP thresholds. Conclusion The cVEMP test is recommended in the evaluation of children and adolescents with SAVA and the characteristics of increase in amplitude and decrease in thresholds can be used as clinical parameters in the identification of this syndrome, together with the patient's clinical history and imaging exams. However, it is essential to carry out more studies with the cVEMP test, also in children and adolescents with SAVA, to better standardize the values found, in order to make the correct diagnosis.

Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites / 临床耳鼻咽喉头颈外科杂志

Objective:To study the frequency of SLC26A4 gene mutation sites in children with enlarged vestibular aqueduct deafness in Yunnan, report the new mutation sites of SLC26A4 gene, further clarify the mutation spectrum of SLC26A4gene, and explore the association between biallelic and monoallelic mutations of SLC26A4 gene and CT phenotype of inner ear, so as to provide basis for clinical and genetic diagnosis of deafness. Methods:Review the results of temporal bone CT examination of 390 children after cochlear implantation in the Department of Otolaryngology, Kunming Children's Hospital from August 2016 to September 2021. Sanger sequencing of SLC26A4 gene was performed in 59 children with enlarged vestibular aqueduct. According to the genetic test results, the children who underwent temporal bone CT examination were divided into two groups: SLC26A4 biallelic mutation group（homozygous mutation and compound heterozygous mutation）, monoallelic mutation group, and the association with inner ear CT phenotype was analyzed, and the new sites were summarized and analyzed. Results:The c.919-2a>g mutation was the most common mutation in children with enlarged vestibular aqueduct with SLC26A4 gene mutation. Three new variants of SLC26A4 gene were found; CT examination combined with genetic testing found that a part of children with enlarged vestibular aqueduct was associated with SLC26A4 monoallelic mutation or no SLC26A4 gene mutation was detected. Further research is needed to investigate the involvement of other pathogenic factors in the pathogenesis of EVA.

Analysis of the correlation between radiological and audiological features of patients with enlarged vestibular aqueduct / 中华耳鼻咽喉头颈外科杂志

Objective@#The radiological and audiological results of patients with hearing loss associated with enlarged vestibular aqueduct (EVA) were analyzed statistically to explore the association between them.@*Methods@#In this retrospective study, we screened 64 patients (128 ears) with EVA diagnosed in the Department of Otorhinolaryngology, Shengjing Hospital of China Medical University from January 2012 to June 2016, who met the inclusion criteria and the exclusion criteria at the same time, including 37 males (74 ears) and 27 females (54 ears), aged from 6 months to 17 years, all of whom showed varying degrees of sensorineural hearing loss (SNHL). The imaging observations included the midpoint measurement (MP) and the operculum measurement(OP) of the temporal bone HRCT, the long signal area cross-sectional area (ESL), the short signal area cross-sectional area (ESS), as well as the largest total signal area cross-sectional area (EST) of the endolymphatic sac(ES) of the cochlear MRI. The audiological observations included collecting detailed medical history and subjective and/or objective audiological examinations to determine the character and degree of hearing loss. According to the progress and changes of hearing loss, they were divided into hearing stability group (86 ears) and fluctuation/progression group (42 ears). SPSS22.0 statistical software was used to carry out statistical analysis of the imaging measurement results.@*Results@#The sizes of MP and OP were smaller in the stable group than those in the fluctuating/progressive group, and the difference was statistically significant (P<0.05). For ESL, ESS or EST, there was no significant difference between the stable group and the fluctuating/progressive group (P>0.05). For the 13 patients with asymmetric hearing loss, the sizes of MP, OP, ESL, ESS or EST were not significantly different between the mild side and the serious side (P>0.05). For the ears whose ESL/ESS was>2 or the ESS/ESL was>2, the proportion was not significantly different between the stable group and the fluctuating/progressive group (P>0.05).@*Conclusions@#For patients with EVA,the smaller the enlarged vestibular aqueduct is,the more likely it is congenital severe sensorineural hearing loss. Patients with significantly enlarged vestibular aqueduct often exhibit volatility/progressive hearing loss. The degree of enlargement of the endolymphatic vessels and endolymphatic sac is not related to the degree of hearing loss. For EVA patients with asymmetric hearing loss, the mild or serious side of hearing loss is random, which is not affected by the degree of enlargement of the vestibular aqueduct and endolymphatic sac. The degree of hearing loss in patients with EVA is not related to the ratio of ESL/ESS.

Imaging characteristics of patients with large vestibular aqueduct syndrome and its relationship with the acoustically evoked short latency negative response / 中华耳鼻咽喉头颈外科杂志

Objective@#To explore the imaging characteristics of large vestibular aqueduct syndrome (LVAS) patients and their relationship with the acoustically evoked short latency negative response (ANSR), so as to provide reference for the diagnosis of LVAS.@*Methods@#Clinical data of 174 patients(334 ears) with LVAS diagnosed and treated by the Department of Otorhinolaryngology Head and Neck Surgery of the First Affiliated Hospital of Guangxi Medical University, from October 2009 to December 2017 were retrospectively analyzed, including 117 males and 57 females, aged from 5 months to 47 years old, with the median age of 4 years and 4 months. ABR and imaging data of patients were collected. Midpoint diameter and the outlet diameter of the vestibular aqueduct were measured on CT images, the midpoint diameter of the intraosseous parts and the extraosseous parts of enlarged endolymphatic sac(EES) were measured on MRI images. The correlation between the above measurements was analyzed by Pearson test using SPSS 17.0. According to whether ASNR was detected in ABR, the above data were divided into two groups, and the differences of the above imaging measurements were compared by the Independent-Sample Test.@*Results@#The average midpoint diameter of the vestibular aqueduct was (1.87±0.58) mm (±s, the following was the same), and the outlet diameter was (3.07±0.99) mm on CT; the average midpoint diameter of the intraosseous parts in enlarged endolymphatic sac(EES) was (2.39±1.37) mm, and the extraosseous parts was (2.50±2.18) mm on MRI. There was a correlation between the four measurements (P<0.05), among which the midpoint diameter of vestibular aqueduct was strongly positively correlated with the outlet diameter (r=0.760), and the remaining pairs were weakly correlated. ASNR was detected in 241 ears (72.16%,241/334) and undetected in 93 ears (27.84%, 93/334) of the 334 ears with LVAS. Midpoint diameter and the outlet diameter of the vestibular aqueduct in no ASNR group were smaller than the ASNR group, and the difference was statistically significant (t value was 2.814 and 2.754, P<0.05). There was no significant difference in the midpoint diameter of the intraosseous parts and the extraosseous parts of enlarged endolymphatic sac between the two groups, and the difference was no statistically significant(t value was 0.101 and 0.683, P>0.05).@*Conclusions@#There is a strong positive correlation between the midpoint diameter of vestibular aqueduct and the outlet diameter in LVAS patients. There is a certain correlation between the size of vestibular aqueduct and the size of endolymphatic sac. The smaller the diameter of vestibular aqueduct, the lower the occurrence rate of ASNR.

Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

OBJECTIVES: To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. METHODS: Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling and parents respectively. To predict and visualize the potential functional outcome of the novel variant, model building, structure analysis, and in silico analysis were further conducted. RESULTS: The results showed that the proband from family I harbored a compound heterozygote of SLC26A4 c.1174A>T (p.N392Y) mutation and c.1181delTCT (p.F394del) variant in exon 10, potentially altering Pendrin protein structure. In family II, the proband was identified in compound heterozygosity with a known mutation of c.919-2A>G in the splice site of intron 7 and a novel mutation of c.1023insC in exon 9, which results in a frameshift and translational termination, consequently leading to truncated Pendrin protein. Sequence homology analysis indicated that all the mutations localized at high conservation sites, which emphasized the significance of these mutations on Pendrin spatial organization and function. CONCLUSION: In summary, this study revealed two compound heterozygous mutations (c.1174A>T/c.1181delTCT; c.919- 2A>G/c.1023insC) in Pendrin protein, which might account for the deafness of the two probands clinically diagnosed with EVA. Thus this study contributes to improve understanding of the causes of hearing loss associated with EVA and develop a more scientific screening strategy for deafness.

Síndrome de acueducto vestibular dilatado: a propósito de un caso / Enlarged vestibular aqueduct syndrome: a case report

El acueducto vestibular dilatado es el hallazgo más encontrado en imágenes radiológicas de pacientes con hipoacusia neurosensorial (1,2). La frecuencia del síndrome de acueducto vestibular dilatado continúa siendo subestimada, situación que ha llevado a subdiagnosticar pacientes con esta condición. El propósito del reporte de caso y su discusión es aclarar los aspectos más importantes del diagnóstico clínico, audiológico e imagenológico de esta patología, así como considerarla parte del diagnóstico diferencial de pacientes en estudio de hipoacusia.

Large vestibular aqueduct is the most frequent condition found in radiological imaging of patients with sensorineural hearing loss. The frequency of this syndrome continues to be underestimated, which has lead to underdiagnosis. The purpose of this case report and its discussion is to clarify the most important aspects of the clinical diagnosis, audiology and radiology, as well as rise attention to the importance of this entity as part of the differential diagnosis in hearing loss workup.

Cochlear Implants in Patients with Large Vestibular Aqueduct Syndrome / 听力学及言语疾病杂志

Objective To study the feasibility of the cochlear implantation and effects in the treatment of large vestibular aqueduct syndrome.Methods A total of 37 patients(74 ears)diagnosed with large vestibular aque-duct syndrome received cochlear implants since 2002 at the Renmin Hospital of Wuhan University.We made a retro-spectively analysis of these 37 patients(37 ears).While 37 patients(37 ears)with normal cochlear structures were considered as the control group.After activation,their speech perception at pre-operation and at 3,6,9,12 months affer the operation were evaluated.Their CAP and SIR scores were collected through questionnaires at each assess-ment interva1 .Results In LVAS group,5 patients(5 ears)had serious gusher,while no gusher was abserved in the control group.The two groups of the electrodes were all inserted in the cochlea.No serious complications occurred after implantation in the two groups.The impedance of the electrodes,the T level,C level and the hearing thresholds were similar with the normal group with cochlear implantations.The results had no significant differences when compared with the normal cochlear group (P>0.05).The speech perception ability,CAP and SIR scores were im-proved along with the increase time of implant use.At the same recovery time,the results had no significant differ-ence in the two groups(P>0.05).At the same group,the results between pre-operation and 3,6,9,12 months post-operation after device activation had significant differences (P<0.05).Conclusion Cochlear implants could be performed safely in patients with large vestibular aqueduct syndrome.The primary outcomes for patients with large vestibular aqueduct syndrome were similar to those with normal cochlear structure following the cochlear im-plantation.

Clinical value of magnetic resonance imaging in the diagnosis of inner ear lesion / 中国基层医药

Objective To discuss the clinical value of magnetic resonance imaging in the diagnosis of inner ear lesion.Methods 94 patients who took magnetic resonance imaging water imaging were selected as study subjects from February 2014 to October 2016 in Heilongjiang Province Hospital.All the patients had surgical data,CT,MRI water imaging data.Based on the standard data of surgery gold,analyzed the sensitivity,specificity,accuracy,positive predictive value and negative predictive value of CT and MRI in the diagnosis of inner ear lesions,compared the statistical differences between the two methods of examination.Results The sensitivity,specificity,positive predictive value and negative predictive value of MRI water imaging in diagnosis of inner ear werehigher than CT,but the differences were no statistically significant (all P ＞ 0.05).In the case of abnormal vestibular aqueduct (x2 =7.265,P =0.015),cochlear deformity (x2 =5.042,P =0.028),diagnostic accuracy of cochlear fibrosis (x2 =5.492,P =0.027),the differences were statistically significant(all P ＜ O.05).Conclusion MRI water imaging can effectively provide the information of ear canal,eudometrial and other internal organs,can provide a favorable clinical diagnosis,it is worth to promote the application in the clinical work.

Auditory Outcome of Cochlear Implantation in Adolescent and Adult Patients with Enlarged Vestibular Aqueduct and Biallelic SLC26A4 Mutations / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Mutations of the SLC26A4 gene cause congenital hearing loss and enlarged vestibular aqueduct (EVA). A considerable proportion of patients with SLC26A4 mutations have significant residual hearing at birth that eventually worsen and become the cause for cochlear implantation (CI) later in their adolescence or adulthood. We analyzed the auditory outcome and prognostic factors of CI in patients with EVA and biallelic SLC26A4 mutations showing progressive early-onset hearing loss, who eventually had implantation in their adolescent or adult periods. SUBJECTS AND METHOD: Sixteen patients with EVA carrying biallelic SLC26A4 mutations who received CI after 12 years of age were included for analysis. The outcome and prognostic factors of CI were analyzed. The postoperative follow-up period ranged from 3 to 48 months. RESULTS: The age at CI ranged from 12 to 44 years. The categories of auditory performance score was significantly improved after CI from 3.1 to 4.9 (p < 0.05). The mean sentence scores improved significantly in the auditory-visual and auditory-only conditions (p < 0.05). The significant prognostic factors were measurable bone conduction thresholds, preoperative residual hearing, recent history of sudden aggravation of hearing loss, and preoperative speech intelligibility rating scores. There was a tendency of lower postoperative sentence scores in the group with homozygous H723R mutation, but statistical significance was not reached. CONCLUSION: Despite the early-onset of hearing loss, significant improvement in auditory performance can be expected after CI in adolescent and adult patients with EVA and biallelic SLC26A4 mutations. Significant prognostic factors should be considered in selecting candidates and preoperative counseling for CI.

A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct

OBJECTIVES: We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female with bilateral profound HL and an 11-year-old male with bilateral moderately severe HL. METHODS: We extracted genomic DNA from blood samples of the siblings with HL, their parents, and 100 controls. We performed mutation analysis for SLC26A4 using direct sequencing. RESULTS: The two siblings were compound heterozygotes with the novel mutation p.I713LfsX8 and the previously described mutation p.H723R. Their parents had heterozygous mono-allelic mutations. Father had p.I713LfsX8 mutation as heterozygous, and mother had p.H723R mutation as heterozygous. However, novel mutation p.I713LfsX8 was not detected in 100 unrelated controls. CONCLUSION: Both mutations identified in this study were located in the sulfate transporter and anti-sigma factor antagonist domain, the core region for membrane targeting of SulP/SLC26 anion transporters, which strongly suggests that failure in membrane trafficking by SLC26A4 is a direct cause of HL in this family. Our study could therefore provide a foundation for further investigations elucidating the SLC26A4-related mechanisms of HL.

Locus DFNB4 -acueducto vestibular dilatado- comportamiento audio-vestibular / Locus DFNB4 -enlarged vestibular aqueduct- behavior audio vestibular / Locus DFNB4 - aqueduto vestibular dilatada - comportamentoaudio-vestibular

Introducción: el acueducto vestibular dilatado, denominado en la literatura internacional EVA, porEnlarged Vestibular Aqueduct, ha sido reportadopor afectar hasta el 15% de la población pediátrica con hipoacusia neurosensorial. En su génesis compartecon Pendred en el Locus DFNB4, el Gen SLC26A4en el cromosma 7q22-31.1. No se conoce bienel comportamiento y la evolución de esta entidad,debido a la gran variabilidad genotípica y fenotípicaque presenta...

Introduction: Dilated Vestibular Aqueduct, known in the international literature Enlarged Vestibular Aqueduct (EVA) has been reported to affect up to 15% of the pediatric population with hearing loss Sensory Neuro. In its genesis shares with pendred in the locus DFNB4 the SLC26A4 gene in the cromosma 7q22-31.1. It is not well understood and evolution behavior of this entity, due to the great variability genotypic and phenotypic presented...

Introdução: Aqueduto vestibular dilatada conhecido na literatura internacional Enlarged Vestibular Aqueduct (EVA) tem sido relatada a afetar até 15% da população pediátrica com perda auditiva sensorial neuro. Em suas ações genesis com Pendred no Locus DFNB4 o gene SLC26A4 na 7q22-31.1 cromosma. Elenão é bem compreendida e o comportamento de evolução dessa entidade, devido à grande variabilidade genotípica e fenotípica apresentada...

Mutations in SLC26A4 Gene and Relevant Phenotype Analysis in Fifty-nine Cases of Enlargement of Vestibular Aqueduct(EVA)Syndrome Children in Guangdong District / 听力学及言语疾病杂志

Objective The molecular etiology of hearing impairment in Guangdong District has not been thor-oughly investigated.SCL26A4 gene mutation and relevant phenotype were analyzed in this study.Methods The coding exons of SLC26A4 were analyzed in 59 EVA cases.Those SLC26A4 gene mutations patients were examined by temporal bone CT.Results Fifty-nine cases were SLC26A4 mutations deafness patients,and 21 cases (35. 59%)and 38 cases (64.41%)patients with SLC26A4 biallelic allele (compound homozygous or heterozygous)and monoallelic gene mutation,including 16 cases of SLC26A4 gene IVS7-2 A> G homozygous mutations,2 cases of 2168A>G homozygous mutations and 3 cases of IVS7-2A>G,2168 A > G compound heterozygous mutations in children with CT showing bilateral enlarged vestibular aqueduct or other types of inner ear malformations.Thirty-one patients were IVS7-2A>G heterozygous for SLC26A4 mutation and seven 2168 A > G heterozygous muta-tion.Four patients with SLC26A4 gene mutations were confirmed to have enlarged vestibular aqueduct with Mondini dysplasia.Two patients with normal phenotype ,and others were enlarged vestibular aqueduct.Conclusion Muta-tions in the SLC26A4 gene with enlarged vestibular aqueduct patients were frequently found in Guangdong District.IVS7-2A>G mutations rate were highest,followed by 2168 A > G.We established the new strategy that detects SLC26A4 mutations prior to the temporal bone CT scan to find enlarged vestibular aqueduct and inner ear malforma-tion patients .

Cochlear Implantation in Isolated Large Vestibular Aqueduct Syndrome: Report of Three Cases and Literature Review

Introduction Large vestibular aqueduct syndrome (LVAS) is characterized by the enlargement of the vestibular aqueduct associated with sensorineural hearing loss. It is the most common radiographically detectable inner ear anomaly in congenital hearing loss. LVAS may occur as an isolated anomaly or in association with other inner ear malformations. Objective To report three cases of isolated LVAS with a focus on preoperative assessment, surgical issues, and short-term postoperative follow-up with preliminary auditory habilitation outcomes. Resumed Report One girl and two boys with LVAS were assessed and cochlear implantation was performed for each. Various ways of intraoperative management of cerebrospinal fluid gusher and postoperative care and outcomes are reported. Conclusion Cochlear implantation in the deaf children with LVAS is feasible and effective.(AU)

AudioIogicaI Characteristics of Large VestibuIar Aqueduct Syndrome / 听力学及言语疾病杂志

Objective To study the audiological characteristics of large vestibular aqueduct syndrome (LVAS)and provide evidence for early diagnosis and prevention.Methods Tympanometry,Otoacoustic emission , auditory brainstem response (ABR),auditory steady-state response(ASSR)were performed on the 49 cases of LVAS which were diagnosed by CT scanning from May,2010 to October,2013.Among them,23 cases(46ears)were examined by pure tone andiometry at the same time.ResuIts Pure tone andiometry showed that 33 ears were mixed hearing loss in the 23 cases(46 ears),the air-bone gap was larger at low frequencies than that of at high frequen-cies,15 ears were senserineural hearing loss with no air-bone gap;96 ears were type A tympanogram.Acoustic re-flex were present in 5 ears ;34 cases (68 ears)of LVAS group were detected with ASNR in 3 -4 ms by the ABR testing,the positive rate was 70.8%.ConcIusion Our study indicates that for confirmed LAVS,if the pure tone andiometry shows significant air-bone gaps at low frequencies with the normal tympanograms,and ASNR is e-voked during the routine ABR testing.

MR imaging features and clinical value of vestibular aqueduct and endolymphatic sac in patients with large vestibular aqueduct syndrome / 中华放射学杂志

ObjectiveTo investigate MR imaging features of endolymphatic sac and vestibular aqueduct in patients with large vestibular aqueduct syndrome (LVAS) and its correlation with hearing loss.MethodsMR imaging findings of LVAS were analyzed in 31 cases (62 ears) retrospectively.MR imaging features were grouped into 4 types.In the first type,the signals of endolymphatic and vesitibular aqueduct were hypointense without any hyperintense area.In the second type,the signals of endolymphatic sac and vestibular were hyperintense which were confined within vestibular fissure.In the third type,the area from vestibular aqueduct backward out of the edge of the petrous bone was hyperintense,but its lower boundary was above posterior semicircular.In the fourth type the area which was hyperintense was below the posterior semicircular.To avoid errors in visual inspection,the hyperintense and hypointense area of endolymphatic and the signal intensity of vestibular aqueduct and cerebrospinal fluid (CSF)were measured.The differences of signal intensity among the vestibular endolymphatic sac between the high-signal areas and lowsignal areas were compared with paired t-test.The correlation of the endolymphatic sac MRI classification and degree of hearing losswasanalyzedby correctedChi-squaretestandSpearmancorrelation analysis.ResultTen ears belonged to type Ⅰ (moderate hearing loss in 1 ear,severe in 4 ears,profound in 5 ears),17 ears belonged to type Ⅱ ( moderate hearing loss in 1 ear; severe in 5 ears,profound in 11 ears),23 ears to type Ⅲ (moderate hearing loss in 3 ear,severe in 5 ears,profound in 15 ears) and 12 ears belonged to Ⅳ(mild hearing loss in 1 ear,moderate in 1 ear,severe 3 ear,profound in 7 ears).The boundary between hyperintense and hypointense area was clear,and the signal intensity ratios was 2.02 ± 0.06.The signal ratios of hyperintense and hypointense area to vestibular and CSF were 0.95 ±0.12,0.49 ±0.10,0.99 ± 0.08 respecitively.So there was statistical significant difference between hyperintense and hypointense area ( t =- 24.966,P ＜ 0.05 ),but there was no statistical significant difference between hyperintense area and vesitbular( t =-24.966,P ＞ 0.05).There was no difference of hearing loss between different MRI types ( likelihood ratio =5.02,P ＞ 0.05 ).Conclusions Not only endolymphatic sac enlarged but also perilymph herniated into skeletal fissures of vestibular aqueduct in patients with LVAS.The signal intensity of the endolymphatic sac did not show significant correlation with degree of hearing loss.

A Case of Bilateral Benign Paroxysmal Positional Vertigo in Bilateral Mondini Malformation With Right Enlarged Vestibular Aqueduct Syndrome / 대한평형의학회지

Enlarged vestibular aqueduct syndrome (EVAS) is well known congenital bony ear anomaly. It's audiologic symptoms and radiological findings are reported in many literatures. However vestibular symptoms of EVAS are rarely reported. A patient with right EVAS developed sudden spinning vertigo on casual observation. He is diagnosed as bilateral benign paroxysmal positional vertigo and recovered by canal repositioning maneuver. We present this case with reviews of previous literatures.

Clinical characterization of audiometrics and vestibular evoked myogenic potentials in patients with large vestibular aqueduct syndrome / 临床耳鼻咽喉头颈外科杂志

Objective:To investigate the clinical and diagnostic characteristics of audiometric findings and vestibular-evoked myogenic potentials in patients with large vestibular aqueduct syndrome (LVAS).Method:Thirty LVAS subjects(60 ears) recruited received pure tone audiometry, acoustic immittance, auditory brain stem responses (ABRs), distortion-product otoacoustic emission(DPOAE), Vestibular evoked myogenic potentials(VEMP) and caloric test, and the diagnostic significance of the results was analyzed.Result:All 30 cases(60 ears) showed progressive and fluctuating hearing loss, while 16 cases experienced dizziness when hearing fluctuated. Most of our cases showed sensorineural hearing loss, and 47 ears(94.0%) showed air-bone gap in the low frequencies, with mean gaps of (43±17)dB HL at 250 Hz, (33±18 )dB HL at 500 Hz, in which the middle ear function showed normal. The acoustically evoked short latency negative response(ASNR) with medium latency(3.06±0.52)ms was elicited from 18 ears(64.3%). The mean amplitude of vestibular evoked myogenic potentials(VEMP) of 42 ears was (147.10± 107.55)μv,and the threshold of VEMP of 19 ears was 75 dB nHL,of 7 ears was 65 dB nHL.Conclusion:Characteristics of hearing performance, such as progressive and fluctuating hearing loss, air-bone gap at the low frequencies with normal middle ears, the ASNR, and increased amplitude and decreased threshold of the VEMPs, will help clinicians make initial diagnosis of LVAS ,and provide a reference for further imaging examination.

The Effects of Cochlear Implantation on Children with Large vestibular Aqueduct Syndrome / 听力学及言语疾病杂志

Objective The purpose of this study is to compare the most comfortable levels and neural re-sponse imaging threshold between children of cochlear implants with large vestibular aqueduct syndrome and normal inner ears. Methods Thirty-eight implanted children participated in this study and were divided into two groups. Group A consisted of 32 patients with normal inner ears and group B 6 patients with radiographically proven large vestibular aqueduct syndrome. All of the patients were the recipients of the cochlear implants by Advanced Bionics. The initial time for the first programming session was approximately one month after surgery. The psychophysical tests included M- level tests. Programming techniques used in the test were suitable for the age of patients. Sound-Wave 1.4 software was used to test tNRI. Results Using the rank sum test, M-level and tNRI of electrode 3,7,11 and 15 did not differ significantly between group A and B(P>0. 05). Conclusion The parameters of mapping are not significantly different between the implanted children with large vestibular aqueduct syndrome and normal inner ear. The management and procedures of mapping used to the subjects with normal inner ear can be applied to the children with large vestibular aqueduct syndrome.

Síndrome do aqueduto vestibular alargado: uma causa de disacusia neurossensorial / The large vestibular aqueduct syndrome: a cause of neurosensory dysacusia

TEMA: a síndrome do aqueduto vestibular alargado (SAVA) é caracterizada pelo alargamento do aqueduto vestibular associada a disacusia. O grau da perda auditiva é variável, podendo ser flutuante, progressiva ou súbita. Sintomas vestibulares podem estar presentes. O diagnóstico é realizado por exames de imagem. OBJETIVO: relatar um caso de SAVA. MÉTODO: lactente, gênero feminino, realizou tomografia computadorizada de ouvidos e exames de audição. RESULTADO: constatou-se alargamento do aqueduto vestibular maior que 1,5mm de diâmetro e perda auditiva neurossensorial à direita. CONCLUSÃO: com a avaliação auditiva precoce é possível o diagnóstico da disacusia, mesmo em crianças com disacusias unilaterais. Embora a literatura consultada mostre que o diagnóstico da SAVA ocorra tardiamente, no presente caso, o diagnóstico etiológico foi possibilitado pela tomografia computadorizada.

BACKGROUND: the large vestibular aqueduct syndrome (LVAS) is characterized by the enlargement of the vestibular aqueduct associated with sensorioneural hearing loss. The level of hearing loss varies and may be fluctuant, progressive or sudden. Vestibular symptoms may be present. The diagnosis is reached by imaging methods. AIM: To report an LVAS case. METHOD: a female infant was submitted to a computerized tomography of the ears and to audiologic tests. RESULTS: enlargement of the vestibular aqueduct of more than 1.5mm and sensorioneural hearing loss in the right ear were observed. CONCLUSION: with an early hearing evaluation it is possible to diagnose hearing loss, even in children were this loss is unilateral. Although the literature indicates that the diagnosis of LVAS occurs at a later age, in this case the etiologic diagnosis was enabled by computerized tomography.

Implante coclear e síndrome do aqueduto vestibular alargado em crianças / Cochlear implant and large vestibular aqueduct syndrome in children

Crianças com SAVA podem ter deficiências auditivas moderadas a severas durante fases precoces da infância, porém sua audição residual permite que elas desenvolvam linguagem oral com aparelhos auditivos convencionais e possam estar completamente integradas a condições escolares regulares. Contudo, estas crianças apresentam uma deterioração de sua habilidade auditiva com o decorrer do tempo e o implante coclear está sendo utilizado como uma opção para manter a habilidade auditiva. OBJETIVO: Avaliação da habilidade auditiva de 3 crianças com SAVA submetidas a implante coclear. MATERIAIS: Estudo retrospectivo baseado em revisão de prontuários. RESULTADOS: Em reconhecimento de palavras em campo aberto paciente 1, 80 por cento, paciente 2, 87,5 por cento, paciente 3, 4 por cento. CONCLUSÃO: Os pacientes com aqueduto vestibular alargado são considerados bons candidatos para implante coclear pelos principais centros de implante coclear do mundo, por desenvolverem, em sua maioria, bons resultados de percepção de fala, o que leva estes pacientes a uma boa inserção social.

Children with LVAS can develop a severe sensorineural hearing loss early in childhood, but they can be rehabilitated with hearing aids to continue their regular studies and to have a normal life. The problem is that they can deteriorate their hearing capacity, and at this point a cochlear implant can be used to preserve their hearing skills and vocalization. AIM: to evaluate the hearing skills of 3 children with LVAS referred to cochlear implants. MATERIAL: retrospective study based on medical charts' review. RESULTS: Speech recognition in open field: patient 1, 80 percent; patient 2, 87.5 percent; patient 3, 4 percent. CONCLUSION: Children with LVAS are considered good candidates for Cochlear implant surgery by the most important centers of the world because most of them can develop good speech recognition, providing them a good social life.