Anemia, Hemolytic ; chemically induced ; diagnosis ; Ceftriaxone ; adverse effects ; Child ; Cochlear Implantation ; adverse effects ; Hearing Loss, Sensorineural ; surgery ; Humans ; Male ; Vestibular Aqueduct

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.
Adolescent* ; Adult* ; Bone Conduction ; Cochlear Implantation* ; Cochlear Implants* ; Counseling ; Extravehicular Activity ; Follow-Up Studies ; Hearing ; Hearing Loss ; Humans ; Methods ; Parturition ; Speech Intelligibility ; Vestibular Aqueduct*

A 62-year-old man consulted for recurrent episodes of vertigo lasting from seconds to several minutes. The vertigo was variably described as spinning, lateral swaying, and a feeling of being “unsure of his position in space.” These episodes were noted to have begun when the patient was still in his 20’s. Standard pure tone audiometry revealed a mild-to-moderate downsloping mixed hearing loss in the left ear. Bithermal caloric testing indicated the presence of a significant left-sided peripheral vestibular loss. Due to the fact that the vertigo episodes presented relatively early in life, the possibility of a congenital inner ear malformation was considered as a cause for his symptoms. Computerized tomographic (CT) imaging of the temporal bone was performed. This clearly showed the left horizontal semicircular canal lacking a central bony island. (Figure 1 and 2) The cochlea, superior and posterior semicircular canals, vestibular and cochlear aqueducts, and ossicular chain were grossly normal. A malformation of the horizontal or lateral semicircular canal is one of the most common inner ear malformations, as it is the last vestibular structure to be formed during inner ear embryogenesis. As such, it may occur in isolation or may be associated with other vestibular, cochlear, or middle ear malformations.1,2 Although vertigo and dizziness are symptoms to be expected in such a condition, existing data indicates that it may be totally asymptomatic, or it may also present as a sensorineural, conductive, or mixed type of hearing loss.1,3 Radiologic imaging is of prime importance in diagnosing such conditions, especially when auditory and/or vestibular symptoms manifest early in life. This case perfectly illustrates the need for such studies, as the patient went undiagnosed for more than forty years! No definitive statements can be gleaned from existing medical literature with respect to treatment. However, in patients with debilitating vestibular symptoms, management with modalities that selectively target the vestibular system, but spare the auditory system, such as vestibular neurectomy and trans-tympanic aminoglycoside therapy appear to be reasonable options.
Human ; Male ; Aged ; Cochlear Aqueduct ; Audiometry, Pure-tone ; Hearing Loss, Mixed Conductive-sensorineural ; Semicircular Canals ; Temporal Bone ; Vertigo ; Tomography, X-ray Computed ; Emotions

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: Genetic hearing loss is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. In spite of this large genetic heterogeneity, mutations in SLC26A4 and GJB2 genes are primarily responsible for the major etiologies of genetic hearing loss among Koreans. The purpose of this study is to investigate the genetic cause of deafness in Korean cochlear implantees by performing a genetic screening of the SLC26A4 and GJB2 genes. METHODS: The study cohort included 421 unrelated Korean patients with sensorineural hearing loss (SNHL) and who had received cochlear implants (CI) at Soree Ear Clinic from July 2002 to December 2010. Among 421 CI patients, we studied 230 cases who had received the genetic screening for SLC26A4 or GJB2 genes. Written informed consent was obtained from all participants. All patients had severe to profound, bilateral hearing loss. For 56 patients who showed enlarged vestibular aqueduct on their computed tomography (CT) scan, we analyzed SLC26A4. For 174 CT negative patients, GJB2 gene was sequenced. RESULTS: For the 56 SLC26A4 patients, 32 (57.1%) had two pathogenic recessive mutations in SLC26A4. A single recessive SLC26A4 mutation was identified in 14 patients (25%). H723R and IVS7-2A>G were the most commonly found mutations, accounting for 60.3% (47/78) and 30.8% (24/78) of the mutated alleles, respectively. For the 174 GJB2 patients, 20 patients (11.5%) had two pathogenic recessive mutations in GJB2. 235delC was the most common mutation, accounting for 43.0% (31/72) of mutant alleles. CONCLUSION: The two major genes, SLC26A4 and GJB2, contribute major causes of deafness in CI patients. Continuous studies are needed to identify new genes that can cause hearing loss to Korean CI patients.
Accounting ; Alleles ; Cochlear Implants ; Cohort Studies ; Connexins ; Deafness ; Ear ; Genetic Heterogeneity ; Genetic Testing ; Goiter, Nodular ; Hearing Loss ; Hearing Loss, Bilateral ; Hearing Loss, Sensorineural ; Humans ; Informed Consent ; Vestibular Aqueduct

Large vestibular aqueduct syndrome (LVAS) is one of common non-syndromic hearing disorders. With the rapid development of medical imaging, audiology, molecular biology, genetics, cochlear implant surgery, we have made remarkable achievements in the diagnosis and treatment of large vestibular aqueduct syndrome. This article reviewed related researches of the large vestibular aqueduct syndrome.
Cochlear Implants ; Hearing Disorders ; genetics ; Humans ; Vestibular Aqueduct ; abnormalities ; Vestibular Diseases ; genetics

The sensorineural hearing loss following extraventricular drainage (EVD) is perhaps an underestimated complication rather than an uncommon event. Changes in the cerebrospinal fluid (CSF) pressure may lead to endolymphatic hydrops through the patent cochlear aqueduct resulting in sensorineural hearing loss. We describe the case of a 9-year-old child suffering from meduloblastoma. Bilateral hearing loss, especially at low frequency was found after emergent extraventricular drainage. At 2 months of treatment, hearing loss improved a little, but not restored to a serviceable hearing. Our experience and a review of articles indicate that early detection and awareness of hearing loss after EVD are important for treatment strategy.
Cerebrospinal Fluid Pressure ; Child ; Cochlear Aqueduct ; Drainage ; Endolymphatic Hydrops ; Hearing ; Hearing Loss ; Hearing Loss, Bilateral ; Hearing Loss, Sensorineural ; Humans ; Stress, Psychological

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

Spontaneous intracranial hypotension (SIH) is a rare cause of labyrinthine hydrops. The otologic symptoms of SIH include ear fullness, tinnitus, and hearing loss which can result from labyrinthine hydrops. We report a case of labyrinthine hydrops caused by SIH, confirmed by an audiometric impairment that occurred only when in an upright posture.
Cochlear Aqueduct ; Ear ; Edema* ; Hearing Loss ; Intracranial Hypotension* ; Posture ; Tinnitus

BACKGROUND AND OBJECTIVES: The objectives of this study were to achieve the normative measurements of inner ear structures on temporal bone computed tomography (TBCT) and, by using these data, diagnose the malformations of severe to profound sensorineural hearing loss (SNHL) ear accurately. SUBJECTS AND METHOD: For the normative data of the inner ear structures, the TBCT of 60 patients (120 ears) with normal bone-conduction threshold (<15 dB) were used and the data were applied to 570 ears of 285 cochlear implantees with severe to profound SNHL. Six identifiable inner ear structures (cochlea, vestibule, superior semicircular canal, lateral semicircular canal, posterior semicircular canal, and internal auditory canal) were measured in numerically designated areas by picture archiving and communications system. The inner ear anomalies were defined when the structures presented visually obvious malformations or when the measurements deviated 2 standard deviations (SD) from the means in the normative data. RESULTS: We achieved the mean and SD values from the normal bone-conduction group. A total of 293 anomalies were detected in 127 of the 570 (22.3%) profound SNHL ears. An enlarged vestibular aqueduct was the most common individual anomaly (49 cases), followed by vestibular enlargement (38 cases), other semicircular canal dysplasia (37 cases), and shortened cochlea (34 cases). CONCLUSION: We suggested a measurement technique for the inner ear structures using TBCT and derived normative measurements helpful for diagnosing inner ear anomalies. Quantitative measurements of the cochlea may improve the detection of cochlear hypoplasia and SCC dysplasia from relying on simple visual inspection.
Cochlea ; Cochlear Implantation ; Diagnosis* ; Ear ; Ear, Inner* ; Hearing Loss, Sensorineural ; Humans ; Semicircular Canals ; Temporal Bone ; Vestibular Aqueduct