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*

Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced exon 2 mutation of COL2A1. We report the cases of two Korean families with OSTL1 carrying likely pathogenic variants of COL2A1. All patients presented with membranous vitreous anomaly, peripheral retinal degeneration, and/or rhegmatogenous retinal detachment, but no systemic manifestations. By genetic analysis, two likely pathogenic non-exon 2 variants, c.2678dupC (p.Ala895Serfs*49) and c.3327+ 1G>C, were identified in COL2A1. Our results demonstrate that COL2A1 defects in OSTL1 are not confined to mutations in exon 2. Together with molecular data, ophthalmologists should consider genetic diagnosis of Stickler syndrome in patients with vitreous anomaly to prevent blindness from retinal detachment. To our knowledge, this is the first report of genetically confirmed OSTL1 in Korea.
Adult ; Arthritis/*genetics/pathology ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Collagen Type II/*genetics ; Connective Tissue Diseases/*genetics/pathology ; DNA Mutational Analysis ; Exons ; Female ; Hearing Loss, Sensorineural/*genetics/pathology ; Humans ; Male ; Middle Aged ; Republic of Korea ; Retinal Detachment/*genetics/pathology ; Visual Acuity

BACKGROUND AND OBJECTIVES: The use of endoscope has led to new treatment options for middle ear pathologies. The aim of this study is to report on endoscopic ear surgeries for the removal of middle ear cholesteatoma and discuss about the usefulness of endoscopic approach to congenital cholesteatoma in children. SUBJECTS AND METHOD: Five pediatric patients with congenital cholesteatoma were enrolled in this study. Cholesteatoma was removed via transcanal endoscopic approach in all patients. Medical records were reviewed retrospectively. We analyzed the clinical characteristics, surgical management and treatment outcomes. RESULTS: The average age of patients was 3.7 years. Cholesteatoma was observed in the anterior portion of tympanic membrane in four patients, and in the posterior portion in one patient. Endoscopic techniques were used exclusively in four patients, but one patient was treated by microscopic approach using a combined technique. Cholesteatoma was fully removed and we confirmed by endoscopic examination that no remnant lesions remained. Surgical complications such as vertigo, sensorineural hearing loss, infection, or bleeding were not seen postoperatively. Average hospital stay was 1.2 days. CONCLUSION: Results showed that this technique was beneficial for treating cholesteatoma in limited cases. Endoscopic surgical techniques produced good intraoperative and postoperative results in removing pediatric congenital cholesteatoma and will gain importance in the otological surgery in the future.
Child* ; Cholesteatoma* ; Cholesteatoma, Middle Ear ; Ear ; Ear, Middle ; Endoscopes ; Hearing Loss, Sensorineural ; Hemorrhage ; Humans ; Length of Stay ; Medical Records ; Pathology ; Retrospective Studies ; Tympanic Membrane ; Vertigo

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15. Here, we report the case of a 32-day-old Korean male with HDR syndrome. He was presented due to repeated seizures over previous 3 days. The patient was born after 40 weeks of gestation with birth weight of 2930 g, and was the first-born baby of healthy Korean parents. Hypoparathyroidism was first noticed due to seizure. A multicystic left dysplastic kidney and vesicoureteral reflux were detected by ultrasound after birth. Auditory brainstem response (ABR) testing revealed that the patient had moderate sensorineural deafness, with hearing losses of 80 dB at the mid and higher frequencies for both ears. Echocardiography finding revealed secundum atrial septal deftect. Based on biochemical results and clinical findings, a presumptive diagnosis of HDR syndrome was made. GATA3 mutation analysis identified a heterozygous deletion, c.153del (p.Phe51Leufs*144) in exon 1 causing a frameshift mutation, which is a novel de novo mutation. Therefore, we suggest that HDR syndrome should be considered in the differential diagnosis in symptomatic or asymptomatic patients with hypoparathyroidism, and that renal ultrasound or ABR testing be performed to prevent a missed diagnosis. This is the first report on Korean patient with confirmed HDR syndrome with novel mutation.
Base Sequence ; DNA Mutational Analysis ; GATA3 Transcription Factor/genetics ; Hearing Loss, Sensorineural/*genetics/*pathology ; Heterozygote ; Humans ; Hypoparathyroidism/*genetics/*pathology ; Infant, Newborn ; Kidney/abnormalities/ultrasonography ; Male ; Molecular Sequence Data ; Nephrosis/*genetics/*pathology ; Reproducibility of Results ; Republic of Korea ; Sequence Deletion

Hearing loss is one of the most common sensory disorders and has numerous environmental and genetic factors that influence its onset and development. Hearing loss can be classified by either the affected anatomic or functional lesion of hearing loss, or as conductive or sensorineural hearing loss (SNHL). Genetic factors account for about 50% of congenital SNHL, and are therefore the most common cause. Molecular genetics research has identified more than 100 genes related to hearing and hearing loss, and shown that the risk of hearing loss caused by non-genetic factor is modified by genetic susceptibility. About 30% of genetic hearing loss is syndromic related and has affected phenotypic markers in other organs that make it easier to correctly diagnose the etiology of the hearing loss. In some cases, hearing loss can precede the pathologies of other organs and in these cases, hearing loss acts as a predictor of the syndrome associated pathologies of other organs. Inheritance of nonsyndromic hearing loss follows common inheritance patterns such as autosomal dominant, autosomal recessive, sex chromosome related, and mitochondrial inheritances. The paucity of predominant phenotypes and ethnic specificity of the prevalence and types of mutations may hinder the genetic diagnosis in nonsyndromic hearing loss. However, progress in elucidating the causal mutations is going forward using stratified genetic diagnostic strategies of candidate genes identified by hearing phenotypes and patterns of inheritance.
Diagnosis ; Fibrinogen ; Genetic Predisposition to Disease ; Genetics ; Hearing ; Hearing Loss* ; Hearing Loss, Sensorineural ; Inheritance Patterns ; Molecular Biology ; Pathology ; Phenotype ; Prevalence ; Risk Factors ; Sensation Disorders ; Sensitivity and Specificity ; Sex Chromosomes ; Wills

OBJECTIVE: To compare the auditory steady-state response (ASSR) test data of severe sensorineural hearing loss children with cochlear lesion and those with retrocochlear lesion and find some specific phenomena of retrocochlear lesion in ASSR, then to improve diagnostic accuracy in clinical practice. METHOD: Between 2008 to 2012. 96 children (179 ears) were diagnosed with "retrocochlear auditory nerve lesion" and recieved ASSR test (" retrocochlear lesion" group). Eighty-one (143 ears) the same age children (143 ears) were diagnosed as "cochlear auditory nerve lesion" and selected them as the "cochlear lesion" group. Twenty-six (50 ears) normal hearing children at the same age who had ASSR test records selected from the pediatric hearing center database of our hospital were selected as "normal control" group. Compare the difference of ASSR threshold, ASSR elicit rate and ASSR audiogram among the three groups. RESULT: (1) ASSR threshold: Compared each frequency threshold in ASSR test with cochlear.lesion group, the retrocochlear lesion group with wave V and wave I had no significant difference in 500 Hz and 1000 Hz but had significant difference in 2000 Hz and 4000 Hz. As for the retrocochlear lesion group without wave V and wave I, there was a decline in 500 Hz, 1000 Hz, 2000 Hz and 4000 Hz compared with cochlear lesion group. (1) ASSR elicit rate: When compared to retrocochlear lesion group, the cochlear lesion group had a significance lower elicit rate in the four frequency. (3) Number of elicit reactions in ASSR test . In the retrocochlear lesion group, the elicit reactions in all the four frequency in ASSR test was significantly higher than ochlear lesion group. (4) ASSR audiogram type. The proportion of rising curve audiogram in retrocochlear lesion group was 26.83% (with wave I and wave V), 40% (with wave I and without wave V ) and 33.80% (without wave I and wave V). CONCLUTION (1) Children with a severe hearing loss in ABR test and a rise type audiogram in ASSR test should be most possibly considered as retrocochlear lesion. (2) ASSR threshold cannot be used in determinate the severity of hearing loss in children with retrocochlear lesion.
Auditory Threshold ; Child ; Cochlea ; pathology ; Hearing Loss, Sensorineural ; diagnosis ; Hearing Tests ; Humans ; Labyrinth Diseases ; Vestibulocochlear Nerve Diseases ; diagnosis

OBJECTIVE: To analysis the characteristics of sudden sensorineural hearing loss (SSHL) patients with tinnitus, and explore the relationship of characteristics of tinnitus and audiology. METHOD: Patients diagnosed as SSHL with tinnitus were studied in the research. All patients' clinical features were analyzed, such as tinnitus frequency, pure tone audiometry, tinnitus, hearing loss degree, results of residual inhibition test. RESULT: Thirty cases were identified as mild degree hearing loss, 13 cases as moderate degree, 28 cases as severe degree and 34 cases as profound degree. And hearing impaired frequency of 13 cases was ascertained at low-frequency, 39 cases at middle-high-frequency, and 53 cases at full-range-frequency. The incidence of patients with low-frequency was about 41. 9% (44/105), and it was about 21. 9% (23/105) in those with middle-frequency. And it was 36. 2% (38/105) in cases of high-frequency tinnitus. The chi-square test show statistically significant differences between patients with the low-frequency, middle-frequency and high-frequency of the hearing loss (P<0. 05). In tinnitus residual inhibition test, positive rate of convergence type masking curve was about 72.0%, tinnitus separated type masking curve 20.0%, overlapping type was 57.9%, and the spacing type was 43.5%. There was a statistically significant difference among cases with different type masking curve (P<0. 05)with the spacing residual inhibition test positive rate. CONCLUSION There are individual differences of clinical characteristics among SSHL patients with tinnitus. Tinnitus frequency is consistent with the frequency of hearing loss. Patients had the more serious the degree of hearing loss, who had more serious tinnitus grading. Cases with the converged type curve will be fit for tinnitus masking. Therefore, combining the tinnitus detection with the audiological tests, we could obtain the clinical characteristics of SSHL patients with tinnitus.
Audiometry, Pure-Tone ; Deafness ; Hearing Loss ; Hearing Loss, Sensorineural ; complications ; pathology ; Humans ; Tinnitus ; complications ; 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

A pregnant female taken realgar because of superstition, which caused the baby congenital deafness. Auditory test indicated that bilateral auditory brainstem response (ABR) hearing threshold level was greater than 90 dB nHL and auditory steady state response (ASSR) hearing level ranging from 0.5 kHz to 4 kHz was beyond 110 dB HL. Temporal bone CT showed that bilateral cochlear and semicircular canal malformations, with internal auditory canal broadened.
Arsenicals ; adverse effects ; Evoked Potentials, Auditory, Brain Stem ; Female ; Hearing Loss, Sensorineural ; chemically induced ; congenital ; Hearing Tests ; Humans ; Infant ; Maternal Exposure ; adverse effects ; Pregnancy ; Semicircular Canals ; pathology ; Sulfides ; adverse effects ; Temporal Bone ; pathology