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At least 19 recordsLinked to original sources
PubMedDate not supplied

Enlargement of the vestibular aqueduct.

Enlarged vestibular aqueduct, a recently identified anomaly, is typified by an enlarged vestibule, dilation of the ampullated portions of the horizontal and superior semicircular canals, an abnormal cochlea, and hearing loss. In the case described a 16-year-old boy had congenital hearing loss, episodic vertigo, and abnormal vestibular function testing. Tomograms and CT scans confirmed the diagnosis of bilaterally enlarged vestibular aqueducts. The vertiginous episodes decreased in frequency and severity with a no-salt-added diet. The authors conclude that the enlarged vestibular aqueduct is associated not only with other structural inner ear abnormalities and hearing loss, but also with abnormal vestibular function.

Adolescent↗
PubMedDate not supplied

Idiopathic endolymphatic hydrops and the vestibular aqueduct.

The vestibular aqueduct (VA) and endolymphatic sac were examined topographically in 29 human ears with idiopathic endolymphatic hydrops. When compared with 34 control ears, there was found to be a slight but statistically significant reduction in the width (P less than 0.005) and length (P less than 0.05) of the vestibular aqueduct. A small hypoplastic endolymphatic sac was found in three of the ears with hydrops but was also present in one control ear. It would appear that a marked reduction in sac size is not a consistent feature in ears with endolymphatic hydrops.

Endolymphatic Sac↗
PubMedDate not supplied

Familial enlarged vestibular aqueduct syndrome.

Enlarged vestibular aqueduct syndrome is a clinical disease entity associated with anatomic abnormality of the bony canal in the temporal bone containing the endolymphatic duct and sac. The definition of this syndrome is progressive sensorineural hearing loss with an isolated enlarged vestibular aqueduct. Familial inheritance of enlarged vestibular aqueduct syndrome is rare, and the correct mode of inheritance has not been discovered. This report is the study of familial inheritance with enlarged vestibular aqueduct syndrome. Clinical audiological, radiographic, and chromosomal analyses were performed in this case, which reports on two female probands who are offspring of normal parents. According to the study of pedigree, familial inheritance of enlarged vestibular aqueduct syndrome is strongly suspected as an autosomal recessive trait. Further study should be focused on discovering the genetic evaluation of familial inheritance of enlarged vestibular aqueduct syndrome.

Adult↗
PubMed1996

Magnetic resonance imaging of patients with large vestibular aqueducts.

The vestibular aqueduct (VA) and endolymphatic sac (ES) were examined by magnetic resonance imaging in eight patients (14 ears) with large VAs, and the results were compared with those obtained in five normal volunteers (10 ears). It was not possible to identify either the VA or ES in any of the control ears. However, in all the 14 ears with a large VA, the VA was detected as a fluid-filled structure. In 12 ears the ES was seen to be markedly enlarged and also filled with fluid. In one ear, the volume of the fluid-filled space within the VA and ES was measured as 912 mm3 on serial images. Five patients (ten ears) were observed to have a fluid-filled VA and enlarged ES without cochlear anomalies and reported frequent episodes of sudden hearing loss and vertigo following exercise, long exposure to sunshine, minor trauma and the like. Two other patients (three ears) also had enlarged VA and ES as well as cochlear anomalies, but did not have episodes of sudden hearing loss and vertigo. These findings suggest that direct transmission of intracranial pressure changes to the inner ear or subsequent movement of endolymph in patients with a large VA may adversely influence a seemingly normal cochlea and vestibule.

Adult↗
PubMed1992

Magnetic resonance imaging of the large vestibular aqueduct.

The large vestibular aqueduct syndrome describes an abnormally large endolymphatic duct and sac with associated sensorineural hearing loss. This entity was originally reported in 1978 and has since been identified as a finding in children with progressive hearing loss. The original description of the large vestibular aqueduct employed hypocycloidal polytomography of temporal bone. Subsequent reports studied patients identified with this syndrome using computed tomographic scans. We report magnetic resonance imaging of two patients diagnosed with the large vestibular aqueduct syndrome. The magnetic resonance imaging and computed tomographic scans are compared and the significant findings on magnetic resonance imaging are reviewed. This should assist the otolaryngologist and radiologist with establishing the appropriate diagnosis.

Adult↗
PubMed2004

Vestibular-evoked myogenic potentials in three patients with large vestibular aqueduct.

An enlarged vestibular aqueduct (LVA) is a common congenital inner ear anomaly responsible for some unusual vestibular and audiological symptoms. Most of the cases show bilateral early onset and progressive hearing loss in children. The gross appearance on CT scan of the inner ear is generally normal. However, precise measurements of the inner ear components reveal abnormal dimensions, which may account for the accompanying auditory and vestibular dysfunction. Despite extensive studies on hearing and the vestibular apparatus, saccular function is not studied. To our knowledge this is the first report of saccular malfunction in three patients with LVA by means of vestibular evoked myogenic potentials. Conventional audiograms revealed bilateral severe sensorineural hearing loss in two patients and mixed type hearing loss in one patient. Two of the patients complained about vertigo and dizziness but vestibular assessments of the patients showed normal results. The diagnosis had been made by high-resolution CT scans and MR images of the skull that showed LVA in the absence of other anomalies. The VEMP threshold measured from the ear with LVA in two patients with unilateral enlargement of the vestibular aqueduct was 75-80 dB nHL whereas the threshold from normal ears was 95 dB nHL. The third patient with mixed type hearing loss and bilateral LVA had VEMP responses despite a big air-bone gap in the low frequency range. The VEMP in this patient was greater in amplitude and lower in threshold in the operated ear (the patient had a tympanoplasty which did not improve her hearing). These findings and results of other patients with Tullio phenomenon and superior semicircular canal dehiscence, who also showed lower VEMP threshold, confirmed the theory of a 'third window' that allows volume and pressure displacements, and thus larger deflection of the vestibular sensors, which would cause the vestibular organ to be more responsive to sound and pressure changes.

Adult↗
PubMed1999

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.

Adolescent↗
PubMed2000

Embryological development and large vestibular aqueduct syndrome.

OBJECTIVES/HYPOTHESIS: Large vestibular aqueduct syndrome (LVAS) is a significant cause of hearing loss in early childhood. Many theories on the origins and causes of LVAS have been proposed, including arrest or maldevelopment of the vestibular labyrinth in embryonic life. Prior studies have described postnatal and adult vestibular aqueduct anatomy, but none has analyzed aqueduct growth throughout embryonic life. This study was undertaken to characterize the growth of the developing vestibular aqueduct to gain a better understanding of the possible origins of LVAS. STUDY DESIGN: Basic science, temporal bone histopathological study. METHODS: Serial sections from 48 temporal bones from human embryos ranging in age from 5 weeks' gestation to full term were studied with computer image analysis. Measurements of vestibular aqueduct internal and external aperture, midportion diameter, and length were analyzed to obtain a growth model of development. RESULTS: The vestibular aqueduct grows in a nonlinear fashion throughout embryonic life. All parameters fit a similar growth curve and never reached a maximum or began narrowing during development. Growth in one parameter correlated well with growth of another. There was good side-to-side correlation with all but the external aperture. CONCLUSIONS: Most of the membranous labyrinth reaches adult size by 20 weeks' gestation, but the vestibular aqueduct grows throughout embryonic life. The measurements and growth model obtained in this study are not consistent with the theory that LVAS results from an arrest in development early in fetal life. The data suggest that LVAS may result from postnatal and early childhood maldevelopment.

Gestational Age↗
PubMed2005

Large vestibular aqueduct syndrome.

Large Vestibular Aqueduct Syndrome is a congenital malformation of the temporal bone characterised by early onset of sensorineural hearing loss and vestibular disturbance. Familial large vestibular aqueduct syndrome suggests autosomal recessive or X-linked inheritance and accounts for non-syndromic sensorineural hearing loss in these patients.

Child↗
PubMed2006

Can a fixed measure serve as a pertinent diagnostic criterion for large vestibular aqueduct in children?

BACKGROUND: A vestibular aqueduct midpoint width greater than 1.50 mm is currently considered to be pathognomonic for a large vestibular aqueduct syndrome. OBJECTIVE: To analyse the diameter of the vestibular aqueduct in children as a function of age and consequently to determine if a fixed measure could serve as a pertinent diagnostic criterion. MATERIALS AND METHODS: This was a retrospective study of 200 high-resolution CT scans of the ear in 100 patients aged 0-16 years and from various paediatric medical departments. On each CT scan, the lateral semicircular canal diameter, the vestibular aqueduct midpoint width between the external aperture and common crus, and the vestibular aqueduct external aperture diameter were measured. Spearman's rank test and the Mann-Whitney correlation test were used for an integrated statistical analysis. RESULTS: There was no statistically significant variability in vestibular aqueduct diameter as a function of age or sex of patients. CONCLUSION: A CT scan threshold value, fixed and independent of age and sex, is thus legitimate for the diagnosis of vestibular aqueduct dilatation.

Adolescent↗
PubMedDate not supplied

Large vestibular aqueduct syndrome.

A large vestibular aqueduct is one of the commonest radiological abnormalities of the inner ear. A case of acute profound unilateral sensorineural hearing loss and balance disturbance following minor head trauma in the presence of an abnormally enlarged vestibular aqueduct is described. The significance of a diagnosis of large vestibular aqueduct syndrome, in the presence of serviceable hearing, is that it identifies patients who should refrain from activities that increase intracranial pressure to prevent hearing loss.

Acute Disease↗
PubMedDate not supplied

Familial isolated unilateral large vestibular aqueduct syndrome.

Large vestibular aqueduct syndrome (LVAS) is one of the most frequent inner ear malformations. It is associated with varying degrees of hearing loss, that may be progressive, sudden or fluctuant; nevertheless normal hearing in cases with LVAS has been described. Although unilateral LVAS has been described, all patients show clinical and radiological findings in both ears, in contrast to the family presented here, where 2 siblings are affected by unilateral sensorineural hearing loss associated with ipsilateral LVAS, with an autosomal recessive pattern. In order to search for the origin of this inner ear malformation, mutations in genes GJB2 (connexin-26 gene), PDS (Pendred's syndrome gene) and mitochondrial 12sRNA were studied, without positive results. In this paper we hypothesize the probable embryological origin for this malformation.

Adolescent↗
PubMed1996

Familial large vestibular aqueduct syndrome.

The large vestibular aqueduct syndrome (LVAS) is a distinct clinical entity characterized by stepwise progressive sensorineural hearing loss associated with isolated enlargement of the vestibular aqueduct. A correlative clinical, audiologic, vestibular, cytogenetic, and radiographic analysis of a family with inherited LVAS was performed. The male proband and his affected brother are offspring of unaffected parents, and have no other abnormalities. Pedigree analysis suggests autosomal recessive or X-linked inheritance with variable expressivity of LVAS in this family. This study is the first description of familial inheritance of LVAS. LVAS may account for a significant number of patients with nonsyndromal, genetic sensorineural hearing loss. Future molecular analyses of this study family may identify the causative gene(s) in LVAS.

Adult↗
PubMed2006

Relationship between the external aperture and hearing loss in large vestibular aqueduct syndrome.

BACKGROUND: Large vestibular aqueduct syndrome (LVAS) is a major cause of hearing loss in childhood. This study aimed at measuring external aperture of enlargement of the vestibular aqueduct (EVA) and analyzing relationship between the size of external aperture and hearing loss. METHODS: Diagnostic criteria of LVAS were based on hearing loss and CT images. CT images of temporal bone of 100 LVAS patients were collected and 60 control subjects were reviewed retrospectively in the past 10 years. A battery of audiometric and vestibular function tests were performed. The width of the vestibular aqueduct (VA) was measured on axial CT images of the temporal bone. RESULTS: One hundred patients (65 men, 35 women) were diagnosed as having the isolated EVA. Hearing loss mostly occurred in early childhood. The diagnosis age of LVAS was 7.7 years on average. The causes of hearing loss could not be confirmed by initial consult. Typically, audiometric curve is the high-frequency down-sloping configuration. 92% of the cases had severe or profound sonsorineural hearing loss (SNHL). The mean size of the external aperture was (7.5 +/- 1.2) mm in present LVAS. Statistical analysis showed that the degree of hearing loss is unrelated to the width of VA. CONCLUSIONS: LVAS is a distinct clinical entity characterized by fluctuating, progressive SNHL. The degree of hearing loss is unrelated to the size of external aperture of VA. The protective management and hearing aid have become the main therapies. The cochlear implantation might be performed if the hearing loss affected learning at school.

Adolescent↗
PubMed1999

Audiological findings in large vestibular aqueduct syndrome.

An enlarged vestibular aqueduct is a congenital disorder causing early onset and progressive hearing loss in children. This paper presents the audiological findings at first presentation and the audiological evolution in 10 consecutive cases presenting with hearing loss and showing a large vestibular aqueduct on imaging. The reported onset of the hearing loss is within the first few years of life. Most of the cases (80%) showed bilateral involvement. The sex ratio was 1. Patients presented on average at age 5 with a median hearing loss of 62 dB at the speech frequencies. The hearing loss was essentially asymmetrical with an interaural difference, of 33 dB and it was a mixed type of hearing loss in 90% of the cases. The authors claim that the conductive component of this hearing loss is a pure cochlear conductive loss which may be pathognomonic for the disease. The presence of a conductive component in a child is easily misinterpreted as a middle ear ventilation problem or in case of good ventilation as an ossicular problem (type otosclerosis). In addition and in contrast to most literature data, the authors did not find evidence for stabilization of the hearing loss but they found a steady decrease of the hearing at an average rate of 4 dB/year.

Audiometry↗
PubMed1997

Computed radiographic measurement of the dimensions of the vestibular aqueduct in Menière's disease.

Lateral polytomography of the vestibular aqueduct by computed radiography was carried out in 30 normal subjects and 25 patients with Meniere's disease, 14 of whom had bilateral involvement. The vestibular aqueduct could be identified clearly not only in normal subjects but also in patients with Menière's disease. Normal vestibular aqueducts were funnel-shaped or tubular, and the width of the external aperture was 6.0 mm on average. In contrast, a hypoplastic vestibular aqueduct with a narrow external aperture was often observed in patients with Menière's disease. Especially, in affected ears of patients with unilateral Menière's disease, the external aperture was very narrow; its mean width was 2.2 mm. In these cases, the most common radiographic configuration of the vestibular aqueduct was filiform. Meanwhile bilateral Menière's disease had a relatively wide external aperture compared with that of unilateral Menière's disease, although a hypoplastic vestibular aqueduct was also observed in patients with bilateral Menière's disease. As to the distribution of radiographic configuration types, bilateral Menière's disease had almost the same distribution as in normal ears. From these results, it was concluded that a hypoplastic development of the vestibular aqueduct was based on the etiology of Menière's disease, but general factors as well as a hypoplastic vestibular aqueduct seem to be responsible for bilateral involvement.

Constriction, Pathologic↗
PubMed2002

Changes in quality of life and the cost-utility associated with cochlear implantation in patients with large vestibular aqueduct syndrome.

OBJECTIVE: A group of 20 patients with large vestibular aqueduct syndrome was identified at the Indiana University School of Medicine. The major objective of this study was to explore the improvements in quality of life associated with cochlear implantation in patients with large vestibular aqueduct syndrome, as well as the cost-utility of cochlear implantation in this group. SETTING: A total of 70 patients were identified with large vestibular aqueduct syndrome through analysis of thin-section computed tomography of the temporal bone over the past 6 years at this medical center. Data collected from the medical records for each patient included demographic data, hearing-related statistics, implantation data, and audiometric data. Sixteen children and adults with large vestibular aqueduct syndrome had undergone cochlear implantation before the beginning of this study, and the remaining 54 children and adults were identified as undergoing treatment of progressive or fluctuant sensorineural hearing loss. Health utility indexes used in this analysis were taken through the use of the Ontario Health Utility Index, Mark III. The range of costs used for cost-utility analysis was derived from the costs of cochlear implantation at this medical center, as well as from costs associated with implantation published in the medical literature. METHODS: Participants were selected from the total population of patients with large vestibular aqueduct syndrome at this center who were postlingually deafened and who currently had severe hearing loss. Two groups were formed. These groups comprised either cochlear implant patients with large vestibular aqueduct syndrome or patients with large vestibular aqueduct syndrome currently using hearing aids. Ten of the 16 cochlear implant patients and 10 of the remaining 54 patients with large vestibular aqueduct syndrome met these criteria. Mark III health utility indexes were distributed to patients in each group and scored. Those health utility indexes not completed by the patients were scored by proxy, using the audiologist at this center who was the most familiar with the patient. Changes in quality of life associated with cochlear implantation were derived by comparison of the health utility index results of the two groups. Cost-utility measures were then made using discounted costs per quality-of-life years (QALYs) (5%), and a sensitivity analysis was performed that evaluated changes in scoring done by proxy. The cost-utility results were then compared with the cost-utilities derived from similar studies and associated with other disease states. RESULTS: Although both groups of patients had significant hearing loss, the hearing aid group had a better mean pure-tone average. The mean pure-tone average for the hearing aid group was 70.8 dB (SD 24.4), and the mean pure-tone average for the cochlear implant group was 107.0 dB (SD 21.7). Seven of the 20 health utility indexes were scored by proxy. Results from the base case indicate a 0.20 gain in health utility from cochlear implantation (hearing aid = 0.62, cochlear implant = 0.82, p = 0.037), resulting in a discounted cost per QALY of $12,774. Sensitivity analysis of the proxy scoring indicated that decreasing the hearing score one level on the health utility index resulted in a gain in health utility with cochlear implantation of 0.15, resulting in a discounted cost per QALY of $17,832. A decrease of the hearing score by two levels on the health utility survey resulted in no significant gain in quality of life with cochlear implantation. CONCLUSION: This study found an improvement in quality of life associated with cochlear implantation in postlingually deafened patients with large vestibular aqueduct syndrome. By weighing this improvement in quality of life against the significant difference noted between the pure-tone averages of each group, further strength can be given to this conclusion. This gain in quality of life, as well as the results derived for the cost-utility of cochlear implantation, was similar to that in previous published studies of cochlear implantation in all types of patients. These results also indicate a favorable cost-utility when compared with published data about other disease states. As patients with large vestibular aqueduct syndrome progress to profound levels of hearing loss, these results indicate that cochlear implantation can be offered as a beneficial, life-improving therapy.

Adolescent↗
PubMed2025

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

BACKGROUND: The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and nonsyndromic autosomal recessive hearing loss DFNB4 in EVA patients. In Caucasian cohorts, the genetic determinants of EVA remain unknown in approximately 50% of cases. We have recruited a cohort of 32 Austrian patients with hearing loss and EVA to define the prevalence and type of pathogenic sequence alterations in SLC26A4 and discover novel EVA-associated genes. METHODS: Sanger sequencing, single nucleotide polymorphism (SNP) assays, copy number variation (CNV) testing, and Exome Sequencing (ES) were employed for gene analysis. Cell-based functional and molecular assays were used to discriminate between gene variants with and without impact on protein function. RESULTS: SLC26A4 biallelic variants were detected in 5/32 patients (16%) and monoallelic variants in 5/32 patients (16%). The pathogenicity of the uncharacterized SLC26A4 protein variants was assigned or excluded based on their ion transport function and cellular abundance. The monoallelic or biallelic Caucasian EVA haplotype was detected in 7/32 (22%) patients, but its pathogenicity could not be confirmed. X-linked pathogenic variants in POU3F4 (2/32, 6%) and biallelic pathogenic variants in GJB2 (2/32, 6%) were also found. No CNV of SLC26A4 and STRC genes was detected. ES of eleven undiagnosed patients with bilateral EVA detected rare sequence variants in six EVA-unrelated genes (monoallelic variants in SCD5, REST, EDNRB, TJP2, TMC1, and two variants in CDH23) in five patients (5/11, 45%). Cell-based assays showed that the TJP2 variant leads to a mislocalized protein product forming dimers with the wild-type, supporting autosomal dominant pathogenicity. The genetic causes of hearing loss and EVA remained unidentified in (14/32) 44% of patients. CONCLUSIONS: The present investigation confirms the role of SLC26A4 in determining hearing loss with EVA, identifies novel genes in this pathophysiological context, highlights the importance of functional testing to exclude or assign pathogenicity of a given gene variant, proposes a possible diagnostic workflow, suggests a novel pathomechanism of disease for TJP2, and highlights voids of knowledge that deserve further investigation.

Humans↗