Objective: To explore the imaging evaluation of cerebrospinal fluid (CSF) otorrhea associated with inner ear malformation (IEM) in children. Methods: The clinical data of 28 children with CSF otorrhea associated with IEM confirmed by surgical exploration in Beijing Children's Hospital, from Nov, 2016 to Jan, 2021, were analyzed retrospectively,including 16 boys and 12 girls, aged from 8-month to 15-year and 8-month old, with a median age of 4-year old. The shapes of stapes were observed during the exploration surgery, and the imaging features of temporal bone high resolution CT(HRCT) and inner ear MRI pre- and post-operation were analyzed. Results: In 28 children with CSF otorrhea, 89.3%(25/28) had stapes footplates defect during exploration. Preoperative CT showed indirect signs such as IEM, tympanic membrane bulging, soft tissue in the tympanum and mastoid cavity. IEM included four kinds: incomplete partition type I (IP-Ⅰ), common cavity (CC), incomplete partition type Ⅱ (IP-Ⅱ), and cochlear aplasia (CA); 100%(28/28) presented with vestibule dilation; 85.7%(24/28) with a defect in the lamina cribrosa of the internal auditory canal. The direct diagnostic sign of CSF otorrrhea could be seen in 73.9%(17/23) pre-operative MRI: two T2-weighted hyperintense signals between vestibule and middle ear cavity were connected by slightly lower or mixed intense T2-weighted signals, and obvious in the coronal-plane; 100%(23/23) hyperintense T2-weighted signals in the tympanum connected with those in the Eustachian tube.In post-operative CT, the soft tissues in the tympanum and mastoid cavity decreased or disappeared as early as one week. In post-operative MRI, the hyperintense T2-weighted signals of tympanum and mastoid decreased or disappeared in 3 days to 1 month,soft tissues tamponade with moderate intense T2-weighted signal were seen in the vestibule in 1-4 months. Conclusions: IP-Ⅰ, CC, IP-Ⅱ and CA with dilated vestibule can lead to CSF otorrhea. Combined with special medical history, T2-weighted signal of inner ear MRI can provide diagnostic basie for most children with IEM and CSF otorrhea.HRCT and MRI of inner ear can also be used to evaluate the effect of surgery.
Male ; Female ; Child ; Humans ; Aged ; Infant ; Child, Preschool ; Cerebrospinal Fluid Otorrhea/surgery* ; Retrospective Studies ; Vestibule, Labyrinth ; Temporal Bone ; Ear, Middle

Humans ; Cochlear Implants ; Cochlear Implantation ; Vestibule, Labyrinth ; Vestibular Function Tests ; Vestibular Diseases

Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was "SLC26A4 gene whole exons and splice sites" sequencing; the second step was "SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for "SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.
Female ; Humans ; Male ; Alleles ; Deafness/genetics* ; DNA Copy Number Variations ; Forkhead Transcription Factors/genetics* ; Genotype ; Hearing Loss/genetics* ; Hearing Loss, Sensorineural/genetics* ; Mutation ; Phenotype ; Sulfate Transporters/genetics* ; Vestibular Aqueduct ; Infant, Newborn ; Potassium Channels, Inwardly Rectifying/genetics*

Humans ; Facial Nerve/surgery* ; Endolymphatic Sac/surgery* ; Cranial Sinuses ; Postoperative Complications ; Neoplasms

Accurate self-motion perception, which is critical for organisms to survive, is a process involving multiple sensory cues. The two most powerful cues are visual (optic flow) and vestibular (inertial motion). Psychophysical studies have indicated that humans and nonhuman primates integrate the two cues to improve the estimation of self-motion direction, often in a statistically Bayesian-optimal way. In the last decade, single-unit recordings in awake, behaving animals have provided valuable neurophysiological data with a high spatial and temporal resolution, giving insight into possible neural mechanisms underlying multisensory self-motion perception. Here, we review these findings, along with new evidence from the most recent studies focusing on the temporal dynamics of signals in different modalities. We show that, in light of new data, conventional thoughts about the cortical mechanisms underlying visuo-vestibular integration for linear self-motion are challenged. We propose that different temporal component signals may mediate different functions, a possibility that requires future studies.
Animals ; Humans ; Motion Perception/physiology* ; Bayes Theorem ; Optic Flow ; Cues ; Vestibule, Labyrinth/physiology* ; Photic Stimulation ; Visual Perception/physiology*

Objective:To analyze the site of vestibular nerve damaged in patients with acute vestibular neuritis. Methods:Fifty-seven patients with acute vestibular neuritis were recruited, and each patient underwent caloric irrigation test, video head impulse test（vHIT） and vestibular evoked myogenic potentials（VEMPs）. The results were further analyzed. Results:Analysis of abnormal rates of different vestibular function tests: the abnormal rate of caloric irrigation test, horizontal semicircular canal vHIT, anterior semicircular canal vHIT, and posterior semicircular canal vHIT were 92.98%, 92.98%, 92.98%, and 52.63%, respectively. The abnormal rate of cervical vestibular evoked myogenic potentials（cVEMP） and ocular vestibular evoked myogenic potentials（oVEMP） were 52.63% and 89.47%. The abnormal rate of caloric irrigation test, horizontal semicircular canal vHIT, anterior semicircular canal vHIT, and oVEMP were significantly higher than posterior semicircular canal vHIT and cVEMP（P<0.01）. Combination analysis of different vestibular function tests: there are twenty-six patients（45.61%, superior and inferior vestibular nerve） with abnormal caloric irrigation test, video head impulse test, and VEMPs. There are twenty-five patients（43.86%, superior vestibular nerve） with abnormal caloric irrigation test, horizontal semicircular canal vHIT, anterior semicircular canal vHIT, and oVEMP. There are 4 patients（7.02%, inferior vestibular nerve） with abnormal posterior semicircular canal vHIT and cVEMP. There are two patients（3.51%, ampullary vestibular nerve） with abnormal caloric irrigation test, horizontal semicircular canal vHIT, and anterior semicircular canal vHIT. The rate of superior and inferior vestibular neuritis and superior vestibular neuritis were significantly higher than inferior vestibular neuritis and ampullary vestibular neuritis（P<0.01）. Conclusion:Acute vestibular neuritis subtypes can be divided into four categories: superior and inferior vestibular neuritis, superior vestibular neuritis, inferior vestibular neuritis, and ampullary vestibular neuritis. Video head impulse test can accurately assess the site of vestibular nerve damage in patients with acute vestibular neuritis. In addition, vHIT combined with VEMPs can provide objective evidence for the diagnosis of ampullary vestibular neuritis.
Humans ; Vestibular Neuronitis/diagnosis* ; Vestibule, Labyrinth ; Vestibular Nerve ; Semicircular Canals ; Head Impulse Test/methods*

A 27-year-old female patient suffering endolymphatic sac tumor with intralabyrinthine hemorrhage was reported. The patient had hearing loss in the left ear with continuous tinnitus, and MRI showed the soft tissue shadow of endolymphatic sac. Considering that the tumor involved semicircular canal and vestibule,endolymphatic cyst tumor resection was performed by labyrinth route. After surgery, there was no cerebrospinal fluid leakage and facial nerve function was normal. More importantly, enhanced MRI of temporal bone showed no tumor recurrence 1 year after surgery.
Female ; Humans ; Adult ; Endolymphatic Sac/surgery* ; Neoplasm Recurrence, Local/pathology* ; Labyrinth Diseases ; Tinnitus ; Ear Neoplasms/pathology* ; Bone Neoplasms ; Hemorrhage

Isolated otolith dysfunction(iOD) involves a group of unexplained vestibular syndromes that manifest clinically as a sense of translation, tilting or floating, and blurred vision with head movement, with normal semicircular canal function but abnormal otolith function on laboratory vestibular testing. As vestibular medicine has gained widespread popularity in recent years, increasing attention has also been paid to iOD and case reports, clinical studies and diagnostic criteria have been published. However, there is no consensus document to guide the diagnosis of this disease in China. In this context, the Special Committee on Vertigo of China Medical Education Association organized a group of domestic experts in vestibular medicine and formulated this diagnostic consensus after thorough discussion based on the latest evidence in China and abroad, in order to promote the best clinical practice for iOD.
Humans ; Otolithic Membrane ; Vestibular Diseases/diagnosis* ; Vertigo/diagnosis* ; Vestibule, Labyrinth ; Semicircular Canals

Bilateral vestibulopathy（BVP） is one of the common diseases in the vestibular nervous system, with an incidence rate of about 4%-7% in the population, which can lead to a variety of body dysfunctions. At present, there are two main treatment methods for BVP. One is vestibular rehabilitation. However, only part of BVP patients can finally benefit from vestibular rehabilitation, and most patients will remain with permanent vestibular dysfunction. Benefiting from the maturity of cochlear implant technology, European and American countries took the lead in the development of vestibular prosthesis（VP） technology to restore the vestibular function in patients with BVP. This review will focus on the development history, principles, future applications and the related research progress of VP in China.
Humans ; Bilateral Vestibulopathy/therapy* ; Cochlear Implants ; Vestibule, Labyrinth ; Cochlear Implantation ; China

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*