Objective:To explore the clinical characteristics, audiological outcomes, and factors influencing the efficacy of pharmacological treatment in patients with sudden hearing loss associated with large vestibular aqueduct syndrome（LVAS）. Methods:A retrospective analysis was conducted on the clinical data of 77 bilateral LVAS patients（117 ears） hospitalized for sudden hearing loss from January 1, 2009, to December 31, 2023. The inclusion criteria required that patients to be diagnosed according to the Valvassori standard and had received standardized pharmacological treatment. Clinical features, audiological outcomes, and treatment efficacy were analyzed. Statistical methods were employed to identify factors associated with treatment outcomes. Results:The age of the enrolled patients ranged from 4 to 37 years. The age of onset for the initial hearing fluctuation varied between 0 and 24 years, with a mean age of 5.8 years. The male-to-female ratio was approximately balanced（37 males and 40 females）. The proportion of unilateral to bilateral sudden hearing loss was 1.0︰1.2, with unilateral right ear hearing loss being more frequently occurring（64.9%）. Triggering Factors: Triggers included no identifiable factors in 48.1% of cases, a history of head trauma（24.7%）, upper respiratory tract infections（11.7%）, onset following physical fatigue（11.7%）, and less frequently, noise exposure, alcohol consumption, or emotional stress（each 1.3%）. Clinical Symptoms: Hearing loss was the sole symptom in 35.1% of cases. Concurrent symptoms included vertigo in 44.2% and tinnitus in 46.8%. Patients with a disease duration of ≤14 days demonstrated a treatment efficacy rate of 75.0%. Among those who responded to treatment, 93.0% had profound or greater hearing loss prior to therapy, with an average improvement in hearing thresholds of 32 dB HL. In pretreatment, 68.9% of patients exhibited low-frequency air-bone gaps, increasing to 76.1% post-treatment. Additionally, 17.6% of treated ears demonstrated a ≥15 dB HL improvement in low-frequency bone conduction thresholds. In the non-responsive group, 7.3% of ears still showed some improvement in bone conduction thresholds. Statistically significant differences（P<0.05） were observed between the treatment-effective and non-effective groups concerning the age of initial hearing fluctuation, disease duration, and severity of hearing loss at onset. Conclusion:The efficacy of pharmacological treatment for sudden hearing loss in LVAS patients is influenced by the age at onset, duration of the disease, and severity of hearing impairment. Early diagnosis and timely intervention significantly enhance treatment efficacy, particularly in patients with a disease duration of ≤14 days and an initial sudden hearing loss. Patients with severe hearing loss, especially those with profound or greater impairment, exhibit greater sensitivity to treatment. Pharmacological interventions positively impact both air conduction and bone conduction thresholds, with the observed improvement in bone conduction thresholds warranting further investigation.
Humans ; Male ; Retrospective Studies ; Hearing Loss, Sudden/etiology* ; Female ; Vestibular Aqueduct/pathology* ; Adult ; Child ; Adolescent ; Child, Preschool ; Young Adult ; Treatment Outcome

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.
Child ; Humans ; Mutation Rate ; Membrane Transport Proteins/genetics* ; China ; Hearing Loss, Sensorineural/diagnosis* ; Mutation ; Vestibular Aqueduct ; Vestibular Diseases/pathology* ; Deafness/genetics*

OBJECTIVE: To explore. HRCT and MRI three-dimensional fast imaging employing steady state ac-quisition(3D-FIESTA) imaging features and clinical characteristics of bilateral large vestibular aqueduct syndrome(LVAS). METHOD: The imaging and clinical features of 14 cases of bilateral LVAS identified over a 5-year periodwere retrospectively analyzed. All patients underwent HRCT and MRI 3D-FIESTA scanning of head and neck;MRI three dimensional reconstructions of internal acoustical meatus were also completed at the same time. RESULT: Audiogram showed mild to moderate hearing loss and was progressive. The cut-off values for the coronal midpointand operculum planes on the HRCT scan to diagnose an EVA were 1. 5 mm and 4. 3 mm respectively; the averagevalue was 2. 4 mm. VA expansion degree were not linked to the degree of hearing loss. MRI showed VA andlymph sac abnormalities. Concomitant image finding was cochlear hypoplasia. CONCLUSION HRCT and MRI 3D-FI-ESTA are important examinations for accurate diagnosis of LVAS. HRCT can acquire the specific size of reamedVA. MRI and 3D reconstructions of internal acoustical meatus can noninasive show more intuitive display ofLVAS and other inner ear malformations than HRCT.
Ear, Inner ; Head ; Hearing Loss ; Hearing Tests ; Humans ; Imaging, Three-Dimensional ; Magnetic Resonance Imaging ; Retrospective Studies ; Temporal Bone ; Tomography, X-Ray Computed ; Vestibular Aqueduct ; pathology ; Vestibular Diseases ; diagnosis

Unilateral enlargement of the vestibular aqueduct (EVA)is a relatively rare disease. Bilateral EVA was found to be more common than unilateral EVA. There are significant differences in clinical features and molecular etiology between unilateral EVA and bilateral one. This article reviewed related researches of the unilateral EVA in clinical characteristics, molecular etiology and pathogenic mechanism.
Vestibular Aqueduct ; pathology

OBJECTIVE: To investigate imaging and audiology features of temporal bone and analyze the classification and prevalence of inner ear abnormalities in children with sensorineural hearing loss. METHOD: Children who were diagnosed with sensorineural hearing loss were examined by high resolution CT and the inner ear fluid of MRI. And each chart was retrospectively reviewed to determine the imaging and audiology features. RESULT: There were 125 patients(232 ears) found with inner ear malformation in 590 children with SNHL. About 21.71% of the inner ear malformation occurred in severe and profound hearing loss ears, and 12.85% occurred in r moderate hearing loss ears. The inner ear malformation rate in normal hearing ears were 13.59%. CONCLUSION CT and MRI examinations of temporal bone are important diagnostic tools to indentify inner ear malformations. Inner ear malformations are almost bilateral and hearing loss are profoud. Cochleo-vestibular malformations and large vestibular aqueduct are the 2 most frequent deformities. Among the children with SNHL, deformity rate in the severe and profound hearing loss ears is higher than that in moderate hearing loss ear. Inner ear malformations can exist in people with normal hearing.
Audiology ; Child ; Ear, Inner ; abnormalities ; Hearing Loss, Sensorineural ; congenital ; pathology ; Humans ; Magnetic Resonance Imaging ; Prevalence ; Retrospective Studies ; Temporal Bone ; Tomography, X-Ray Computed ; Vestibular Aqueduct ; abnormalities

OBJECTIVE: To investigate diagnostic value and clinical application of MRI in the children with sensorineural hearing loss (SNHL) before cochlear implantation. METHOD: MRI images of 80 children with the diagnosis of SHNL were retrospectively analyzed in combination with the latest classification of inner ear malformation. RESULT: There were 152 ears of inner ear malformation of 80 cases (160 ears), including 38 ears of cochlear malformation, 33 ears of vestibular malformation, 41 ears of semicircular canal malformation, 37 ears of vestibular aqueduct enlargement, 40 ears of internal auditory canal malformation, and 46 ears of cochlear nerve malformation. CONCLUSION MRI can provide detailed and reliable anatomical information for children with SNHL before cochlear implantation, and help to make the classification diagnosis. Therefore MRI is of great clinical significance for operation plan guidance and prognosis assessment.
Child ; Cochlear Implantation ; Cochlear Nerve ; pathology ; Hearing Loss, Sensorineural ; diagnosis ; pathology ; Humans ; Magnetic Resonance Imaging ; Retrospective Studies ; Semicircular Canals ; pathology ; Temporal Bone ; pathology ; Tomography, X-Ray Computed ; Vestibular Aqueduct ; abnormalities ; pathology

OBJECTIVES: The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management of deaf patients. METHODS: We investigated the genetic etiology in a large consanguineous family with 9 deaf patients from Fars province of Iran with no GJB2 mutations. Initially, linkage analysis was performed by four DFNB4 short tandem repeat markers. The result showed linkage to DFNB4 locus. Following that, DNA sequencing of all 21 exons, their adjacent intronic sequences and the promoter of SLC26A4 was carried out for mutation detection. RESULTS: Two novel mutations (c.863-864insT and c.881-882delAC) were identified in exon 7 of the gene, in both homozygous and compound heterozygous state in patients. CONCLUSION: Our results supported the importance of the SLC26A4 mutations in the etiology of hearing loss among the Iranian patients and therefore its mutation screening should be considered after GJB2 in the molecular diagnostics of hearing loss, especially when enlarged vestibular aqueduct or goiter is detected.
Deafness ; Exons ; Goiter ; Goiter, Nodular ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Introns ; Iran ; Mass Screening ; Microsatellite Repeats ; Pathology, Molecular ; Pedigree* ; Sequence Analysis, DNA ; Vestibular Aqueduct

OBJECTIVETo evaluate the hearing and speech recognition in patients with large vestibular aqueduct syndrome undergoing multi-channel cochlear implantation.

METHODSFrom 2005 to 2008, multi-channel cochlear implantation surgeries were performed in 22 patients with large vestibular aqueduct syndrome. All the patients received multi-channel cochlear implantation through transmastoid facial recess approach. The postoperative outcomes of the patients were compared with those of 22 patients with non-malformed cochlear.

RESULTSSevere gusher occurred in 3 cases during the implantation, and perilymph fluctuation was found in another 15 cases, with a rate of anomalies of 81.8%. All the electrodes were totally inserted into the cochlear, and no facial paralysis or cerebrospinal fluid leakage occurred after the operation. The hearing threshold in these patients was similar to that in patients with normal cochlear receiving the implantation. After speech rehabilitation for over 6 months, all the patients showed improved hearing and verbal ability.

CONCLUSIONMulti-channel cochlear implantation can be performed in patients with large vestibular aqueduct syndrome, but preoperative hearing assessment and radiographic examinations should be performed.

Adolescent ; Adult ; Child ; Child, Preschool ; Cochlear Implantation ; Electrodes ; Female ; Hearing ; Hearing Loss ; diagnostic imaging ; physiopathology ; surgery ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Speech ; Tomography, X-Ray Computed ; Vestibular Aqueduct ; diagnostic imaging ; pathology ; physiopathology ; Young Adult

OBJECTIVETo investigate the incidence of hot spot mutation of PDS gene by genetic screening testing method in Chifeng City, Inner Mongolia. The feasibility and effectiveness of genetic screening method in finding enlarged vestibular aqueduct syndrome were confirmed by temporal bone CT scan.

METHODSDNA were extracted from peripheral blood of 141 students of Chifeng Deaf and Dumb school. PDS IVS7-2 A-G mutation, the most common PDS mutation in Chinese population, was analyzed by direct sequencing for PDS exon 7, exon 8 with intron 7. The individuals found with homozygous or heterozygous PDS IVS7-2 A-G mutation were given further temporal CT scan, ultrasound scan of thyroid and thyroid hormone assays. The results of PDS genetic screening and temporal bone CT scan were compared with each other.

RESULTSThe sequencing results revealed twenty cases carrying PDS IVS7-2 A-G mutation, of whom nine cases were homozygous mutation and eleven cases were heterozygous mutation. Eighteen cases underwent temporal bone CT scan except two cases that left the school due to other health problem. Sixteen cases were confirmed to be enlarged vestibular aqueduct syndrome (EVAS) by CT scan and the shape and function of thyroid were clinically normal by ultrasound scan of thyroid and thyroid hormone assays, respectively.

CONCLUSIONSThe patients suffered from EVAS can be diagnosed by the screening for the PDS hot spot mutation which has unique advantage in epidemiologic study in large scale deaf population. The preliminary data of this study suggested relatively high incidence of EVAS in Chifeng area.

Adolescent ; Child ; Child, Preschool ; China ; Female ; Genetic Testing ; Hearing Loss ; genetics ; Humans ; Membrane Transport Proteins ; genetics ; Point Mutation ; Syndrome ; Vestibular Aqueduct ; pathology ; Vestibular Diseases ; genetics ; Young Adult

BACKGROUNDLarge 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.

METHODSDiagnostic 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.

RESULTSOne 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.

CONCLUSIONSLVAS 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 ; Adult ; Child ; Child, Preschool ; Diagnostic Errors ; Female ; Hearing Loss, Sensorineural ; etiology ; Humans ; Infant ; Male ; Retrospective Studies ; Syndrome ; Tomography, X-Ray Computed ; Vestibular Aqueduct ; abnormalities ; pathology