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

Humans ; Syndrome ; Vestibular Aqueduct ; Vestibular Diseases

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

Hearing Loss, Sensorineural/diagnosis* ; Humans ; Syndrome ; Vestibular Aqueduct ; Vestibular Diseases/diagnosis*

OBJECTIVE: The purposes of this study was to analyse the significant of low frequency air-bone gap in enlarged vestibular aqueduct (EVA) patients according to the pure tone audiogram and the benefit for clinic diagnosis of the EVA. METHOD: The audiology testing include (1) play audiometry or pure tone audiometry, tympanometry, middle ear muscle reflex thresholds and stapedius muscle reflex; (2) High-resolution computed tomography (CT) scan of the temporal bone and magnetic resonance imaging was used for diagnoses the EVA. RESULT: All the 78 patients (154 ears) were diagnosed as the typical EVA by CT or MRI. Inner ear malformations were found in 3 ears otherwise the structures of middle ear in all the patients were absolutely normal. The audiology analysis showed 154 ears were type A tympanogram including 126 ears with typical A, 25 ears with As, 3 ears with Ad type. In the 250 Hz pure-tone test:A-B gap were observed in 126 ears(126/154,81. 8%) with the different hearing loss degree: 1 ear mild, 11 ears moderate, 19 ears moderate severe, 40 ears severe and 53 ears profound. In the 500 Hz pure-tone test: A-B gap were found in 102 ears(102/154, 66. 2%) with the different hearing loss degree: 9. ears moderate, 17 ears moderate severe, 35 ears severe and 41 ears profound. CONCLUSION Our study suggested a 66. 2% -81. 8% possibilities to find the EVA through the pure-tone audiometry firstly in the basis of the normal tympanograms with the significant A-B gap.
Acoustic Impedance Tests ; Adolescent ; Audiometry, Pure-Tone ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Vestibular Aqueduct ; Vestibular Diseases ; physiopathology

Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791). H723R (2168A>G) is the most commonly reported SLC26A4 mutations in Korean and Japanese and known as founder mutation. We recently experienced one patient with enlarged vestibular aqueduct syndrome. The genetic study showed H723R homozygous in the proband and H723R heterozygous mutation in his family members. The identification of a disease-causing mutation can be used to establish a genotypic diagnosis and provide important information to both families and their physicians.
Asian Continental Ancestry Group ; Databases, Genetic ; Deafness ; Goiter ; Goiter, Nodular ; Hearing Loss, Sensorineural ; Humans ; Vestibular Aqueduct

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.
Dizziness ; Ear ; Extravehicular Activity ; Hearing Loss, Sensorineural ; Humans ; Vertigo ; Vestibular Aqueduct

The enlarged vestibular aqueduct syndrome (EVAS) is a clinical disease causing anatomical abnormality of bony canal in the temporal bone containing endolymphatic duct and sac. It is also associated with progressive sensorineural hearing loss with an isolated enlarged vestibular aqueduct. Familial inheritance of enlarged vestibular aqueduct syndrome (FEVAS) is rare and the correct mode of inheritance is not yet discovered. We studied familial inheritance in EVAS by performing clinical, audiological, radiographic and chromosomal analyses, and found strong indications that FEVAS may be an autosomal recessive trait. Further study would be focused on genetic evaluation of FEVAS.
Endolymphatic Duct ; Extravehicular Activity ; Hearing Loss, Sensorineural ; Temporal Bone ; Vestibular Aqueduct* ; Wills

BACKGROUND AND OBJECTIVES: The reports of normative measurements for inner ear structure using computer-based programs are rare. The purpose of this study was to measure the normative data of the Korean inner ear structures and establish the basic data for diagnosis of congenital inner ear anomaly. SUBJECTS AND METHOD: Temporal bone CT of 38 patients (16 men and 22 women) without apparent disease of middle and inner ear, fractures or major disorder such as seizure or tumor were retrospectively reviewed. Fifteen dimensions on axial views and 9 dimensions on coronal views were measured in PACS using pi-view program. The slice thickness of CT was 0.6 mm. RESULTS: From the axial view, the canal diameter of SSCC was 1.09+/-0.15 mm, the bony island width was 5.70+/-0.50 mm, the bony island width of LSCC was 3.99+/-0.58 mm, the cochlear upper turn width & height were each 5.63+/-1.07 and 3.03+/-0.65 mm. The vestibular aqueduct were observed 95.3%. From the coronal view, the cochlear height was 5.14+/-0.36 mm. The length of IAC was significantly longer in male than female (p<0.05) and the opening site of IAC was significantly wider in the left than the right (p<0.05). The upper turn of cochlea in good bone conduction (< or =10 B) had larger width and smaller height than those in poor bone conduction (>10 dB). CONCLUSION: We established the Korean normative measurements of the inner ear structures, which can be used for further diagnosis of the inner ear anomaly.
Bone Conduction ; Cochlea ; Diagnosis ; Ear, Inner* ; Female ; Humans ; Male ; Retrospective Studies ; Seizures ; Temporal Bone* ; Vestibular Aqueduct

PURPOSE: To assess the value of 3 dimensional fourier transformation interference in steady state magnetin resonance imaging(3 DFT CISS1 MRI) in depicting the inner ear and vascular structures. MATERIALS AND METHODS: Using 3DFT CISS axial and coronal MRI scans of both ears with 17.1 msec/8.0 msec/50 degree(TR/TE/FA) and 0.9mm in nominal thickness, we studied 68 normal ears of 34 volunteers aged between 15 and 54 years. We assessed the visualization of the membranous labyrinth, and of cranial nerves VII and VIII in the inner ear canal. We analyzed the location of the vascular loop of the anterior inferior cerebellar artery in relation to cranial nerves VII and internal auditory canal. To define the three-dimensional images of the membranous labyrinth, MIP reconstruction of axial images was carried out. RESULTS: The very high signal of the intralabyrinth fluid enabled one hundred percent of the membranous labrynth to be seen. There was a lack of contrast between soft tissue and bone such as the facial nerve canal, vestibular aqueduct and canal of the subarcuate artery. In 25% of cases, the vascular loop was recognized in the porus acusticus, and in 6% of cases, inside the internal auditory canal. CONCLUSION: 3DFT CISS MRI is useful for determining the detailed anatomy of the inner ear and the nearby vascular loop. This special MR technique can be added as a routine protocol in the study of diseases of the inner ear.
Arteries ; Cranial Nerves ; Ear ; Ear, Inner* ; Facial Nerve ; Fourier Analysis ; Imaging, Three-Dimensional ; Magnetic Resonance Imaging* ; Vestibular Aqueduct ; Volunteers