The clinical and imaging presentations of the stapical footplate hernia related to inner ear malformation / 中华放射学杂志

Objective:To summarize the clinical and imaging presentations of stapical footplate hernia related to inner ear malformation (SFH-Re-IEM).Methods:The clinical and imaging data of 19 patients (24 ears) with SFH-Re-IEM from Shandong Provincial ENT Hospital between June 2014 to June 2022 were retrospectively analyzed. The clinical presentations and headache and the high resolution CT (HRCT) and MRI findings including associated inner ear malformation (IEM) type, internal auditory canal (IAC) malformation, bony defect of the stapical footplate, the extent, margin, density and signal of the herniation cysts, the density and signal of ipsilateral intratympanic, cochlear osseous labyrinthitis were recorded.Results:Among 19 SFH-Re-IEM patients, including 14 males and 5 females, 3 (1, 12) years old. All of the affected ears presented sensorineural or mixed hearing loss, 1 ear for moderate, 7 ears for severe and 16 ears for extremely severe. Besides this, the vertigo in 1 case, otalgia and ear fullness in 2 cases were found, and the others were detected accidentally. Among 24 ears with SFH-Re-IEM, 9 ears (37.5%) consisting with incomplete partition type Ⅰ, 3 ears (12.5%) with common cavity, 7 ears (29.2%) with cochlear aplasia, 3 ears (12.5%) with cochlear dysplasia type Ⅱ, and 2 ears (8.3%) with Mondini deformity were found respectively. Four ears (16.7%) were associated with IAC enlargement and the bony defect of IAC fundus, 19 ears (79.2%) were accompanied with dysplasia in the IAC fundus. In all the 24 ears with SFH-Re-IEM, the focal bony defect of the affected stapical footplate and the hemispherical soft-tissue-density herniating cysts protruding into the tympanium were presented on HRCT, and the herniating cysts presenting the cerebrospinal fluid-like signal with the well-defined margin and the ipsilateral normal tympanium were shown on the MRI hydrographic sequence. Two ears underwent the perilymphaticum gadolinium based on MRI, which demonstrated the hypersignal gadolinium in the perilymphatic space entered into the herniating cysts. Two ears were accompanied with the cochlear osseous labyrinthitis.Conclusion:The ears with IEM-Re-SFH usually present the serious hearing loss. The ipsilateral severe IEM, focal bony defect of the stapical footplate and perilymph herniating are characteristic imaging appearances.

Sordera neurosensorial congénita con malformación de oído interno ligada al X en una familia mexicana / Congenital sensorineural deafness X-linked, with inner ear malformation in a Mexican family

Introducción. Las sorderas o hipoacusias prelinguales son de etiología genética entre el 60 y el 68% de los casos; de estos, del 20 al 40% son malformaciones del oído interno. De los casos de hipoacusia no sindrómica ligada al X se han descrito siete tipos. De las malformaciones de oído interno, la partición coclear incompleta tipo III es la menos frecuente.Objetivo. Presentar el reporte clínico-genético de una familia mexicana, con indi-viduos varones afectados por sordera neurosensorial congénita con malformación de oído interno. Material y Métodos. Se realizó estudio de una familia en la que nueve miembros presentaban sordera. Se estudiaron cuatro de ellos y una madre sin manifestaciones, a través del estudio clínico general por médico genetista, el estudio audiológico (otos-copía y audiometría) por médico audiólogo y el estudio de tomografía computada (TC) por médico radiólogo.Resultados. Los pacientes estudiados presentaron sordera neurosensorial congéni-ta, de severa a profunda bilateral. A través de la TC, se evidenció malformación de oído interno. Tres pacientes presentaron partición coclear incompleta tipo III y un paciente partición incompleta tipo I. Debido al estudio clínico y al árbol genealógico, se definió diagnóstico de hipoacusia neurosensorial no sindrómica ligada al X. La TC de la madre sin manifestaciones no presentó evidencia de malformaciones en oído interno (MOI).Conclusión. El estudio de imagen es fundamental para definir presencia o no de MOI en todos los pacientes con hipoacusia y así poder guiar la terapéutica y el aseso-ramiento genético, así como realizar los estudios moleculares más adecuados

Introduction. The pre-lingual deafness or hearing loss are of genetic cause in be-tween 60% and 68% of cases, among these, between 20% and 40% are malforma-tion of the inner ear. From the non-syndromic hearing loss cases that are linked to the X chromosome, seven types have been described. Among these inner ear malforma-tions, incomplete cochlear partition type III is the less frequent.Objective. Present the clinical genetical report of a Mexican family, with male in-dividuals affected by congenital neurosensory deafness with inner ear malformation.Materials and methodology. A study on a family in which nine members were affected by deafness was done. Four of them, plus a mother without manifestation, were studied through a general clinical study by a geneticist, an audiological study (otoscopy and audiometry) by an audiologist, and a computed tomography (CT) scan by a radiologist.Results. The studied patients presented congenital neurosensory deafness, from se-vere to deep bilateral. Via the CT, the inner ear malformation was made clear. Three of the patients presented incomplete cochlear partition type III and one patient in-complete cochlear partition type I. Due to the clinical study and the family tree, it was diagnosed non-syndromic neurosensory deafness linked to X. The CT of the mother without manifestation did not show evidence of inner ear malformations.Conclusion. The study by image is fundamental to define whether there is or not a presence of inner ear malformations in any patient with heading loss to be able to guide the therapeutics and the genetic counseling, as well as to make more accurate molecular studies

Frequency of Inner Ear Anomalies Among Cochlear Implant Candidates: A Case Study in the Northwest of Iran

@#Introduction: Globally hearing impairment occurs in about 1 to 2 per 1000 live births. The etiology of severe sensorineural hearing loos (SNHL) is complex and multifactorial. Congenital inner ear abnormality is a major cause of hearing loss in children and cochlear implantation (CI) is a proper treatment in these children. Preoperative CT scan of the temporal bones are used to evaluate inner ear malformations in CI candidates. The frequency of internal ear malformations reported on temporal scan could varied from 20% to 30%. The aim of this study was to evaluate the frequency of inner ear malformations in CT scan of cochlear implant candidates . Methods: In a retrospective cross-sectional descriptive study, 201 infants (105 boys and 96 girls ) with the mean age of 20.5 ± 14.01 month with severe SNHL who are CI candidates were examined by temporal bone imaging with multi-slice CT from March 2014 to March 2015 in CI center of Tabriz University. Results : CT revealed abnormalities of the inner ear in 26 (13%) of infants that most of them with 10 (38.5%) was enlarged vestibular aqueduct (EVA). Also, 31 infants (15.4%) had abnormalities in outer, middle ear or in mastoid aeration. Conclusion: Temporal bone imaging with CT is an essential method and could be suggested as a proper first step for evaluating inner ear malformations in CI candidates.

The Inner Ear Malformation Diagnosed by High-resolution Computed Tomography for its Classification in Sensorineural Hearing Loss / 听力学及言语疾病杂志

Objective To study sensorineural hearing loss classification and incidence of inner ear malformations based on the image of high-resolution computed tomography.Methods The investigation took the form of a retrospective review of CT findings relating to the 5 398 ears of outpatients in the general PLA hospital in the last 10 years.The inner ear malformations diagnosed by CT were classified according to the methods proposed by Sennaroglu's 2010.Results A total of 1 640 ears of inner ear malformations were found in 5 398 ears with sensorineural hearing loss by CT examination.The incidence of the inner ear malformation was 30.38% (1 640/5 398).The epidemiological information of 1 660 ears of inner ear malformation according to Sennaroglu's classification was as follows: cochlea information was 53.66%(880/1 640)and non-cochlea information was 46.34%(760/1 640)of the group.Eight hundred and eighty ears of cochlea malformation consisted of these types: 5 ear of Michel deformity, 23 cochlea of aplasia, 6 common cavity deformity, 69 cochlea of hypoplasia with 19 CH-I , 16 CH-II, and 34 CH-III, 777 cochlea incomplete partition with 44 IP-I , 703 IP-II and 30 IP-III.Seven hundred and sixty ears of non-cochlea malformation consisted of 680 large vestibular aqueducts, 80 simple vestibular/ semicircular canal/ internal auditory canal malformations.IP-II type and large vestibular aqueduct were related to the vestibular aqueduct malformation, making up 84.33%(1 383/1 640)ears of the whole malformation group.Conclusion The results suggest that 30.38% inner ear malformation can be found in ears with sensorineural hearing loss,higher than reported based on the image of high-resolution computed tomography.Sennaroglu's 2010 classifications have instructive significance in investigating the status of inner ear malformations.

Mutations in SLC26A4 Gene and Relevant Phenotype Analysis in Fifty-nine Cases of Enlargement of Vestibular Aqueduct(EVA)Syndrome Children in Guangdong District / 听力学及言语疾病杂志

Objective The molecular etiology of hearing impairment in Guangdong District has not been thor-oughly investigated.SCL26A4 gene mutation and relevant phenotype were analyzed in this study.Methods The coding exons of SLC26A4 were analyzed in 59 EVA cases.Those SLC26A4 gene mutations patients were examined by temporal bone CT.Results Fifty-nine cases were SLC26A4 mutations deafness patients,and 21 cases (35. 59%)and 38 cases (64.41%)patients with SLC26A4 biallelic allele (compound homozygous or heterozygous)and monoallelic gene mutation,including 16 cases of SLC26A4 gene IVS7-2 A> G homozygous mutations,2 cases of 2168A>G homozygous mutations and 3 cases of IVS7-2A>G,2168 A > G compound heterozygous mutations in children with CT showing bilateral enlarged vestibular aqueduct or other types of inner ear malformations.Thirty-one patients were IVS7-2A>G heterozygous for SLC26A4 mutation and seven 2168 A > G heterozygous muta-tion.Four patients with SLC26A4 gene mutations were confirmed to have enlarged vestibular aqueduct with Mondini dysplasia.Two patients with normal phenotype ,and others were enlarged vestibular aqueduct.Conclusion Muta-tions in the SLC26A4 gene with enlarged vestibular aqueduct patients were frequently found in Guangdong District.IVS7-2A>G mutations rate were highest,followed by 2168 A > G.We established the new strategy that detects SLC26A4 mutations prior to the temporal bone CT scan to find enlarged vestibular aqueduct and inner ear malforma-tion patients .

CT and MRI diagnostic value of the congenital inner ear malformation incomplete partition type Ⅱdeformity combined with spontaneous CSF otorrhea / 实用放射学杂志

Objective To discuss the diagnostic value of high resolution computed tomography (HRCT)and MRI in the congenital inner ear malformation incomplete partition type Ⅱ deformity(Mondini deformity)combined with spontaneous cerebrospinal fluid (CSF)otorrhea.Methods The imaging data including the multiplanar reformation(MPR)images of HRCT,curved planar reforma-tion(CPR)images and MR hydrography images in three patients complicated with recurrent meningitis were retrospectively ana-lyzed.The anatomic changes of the inner ear and middle ear on the affected side were observed,the clinical and imaging features of this disease were summarized.Results One patient had bilateral incidence of the incompletely separated inner ear,combined with semicircular canal dysplasia and cochlear pipe dilation.Two patients had unilateral onset,one of them had concurrent facial nerve ca-nal dysplasia.Humble stapes floor and the defect of the bottom of the internal auditory canal were seen in all the three patients.Con-clusion HRCT with post-processing technology,and MRI have great significance in the diagnosis of the congenital inner ear malfor-mation incomplete partition type Ⅱ deformity (Mondini deformity)combined with spontaneous CSF otorrhea.

Three Cases of Bilateral Semicircular Canal Aplasia with Normal Cochlear Development in the Same Family Member / 대한이비인후과학회지

Semicircular canal aplasia is rare congenital inner ear anomaly. During embryogenesis, congenital malformation of vestibular labyrinth usually associates with cochlear anomalies. Two cases of semicircular canal aplasia with normal or near-normal cochlear development was reported in the English literature. We present three patients with computed tomographic findings of bilateral total semicircular canal aplasia with normal cochlear development in the same family member. Two patients had significant conductive hearing loss due to congenital stapedial anomalies and the other was congenital deafmute. Temporal bone CT scan revealed total absence of the semicircular canals bilaterally and both cochleas were normal in three cases.