Estenosis congénita aislada del conducto auditivo interno como causa de hipoacusia neurosensorial unilateral y paresia del nervio facial / Congenital internal auditory canal stenosis presenting with unilateral sensorineural hearing loss and facial nerve dysfunction

RESUMEN La estenosis del conducto auditivo interno con aplasia/hipoplasia del nervio cocleovestibular es una patología muy infrecuente. Suele ser unilateral y puede acompañarse de aplasia/hipoplasia del nervio facial y otras malformaciones del oído interno. Se presentan aquí dos casos clínicos de pacientes pediátricos con estenosis del conducto auditivo interno unilateral con compromiso del séptimo y octavo par craneal ipsilateral. Se describen las historias y evaluaciones clínicas, hallazgos audiovestibulares, hallazgos imagenológicos, tratamientos indicados y sus resultados.

ABSTRACT Congenital internal auditory canal stenosis associated with aplasia/hypoplasia of the cochleovestibular nerve is a very infrequent pathology. It is usually unilateral and may be accompanied by aplasia/hypoplasia of the facial nerve and other malformations of the inner ear. We hereby present two clinical cases of pediatric patients with congenital internal auditory canal stenosis, with involvement of the seventh and eighth ipsilateral cranial nerve. The medical histories and clinical evaluations, audiovestibular findings, imaging findings, treatments and their results are described.

Cerebrospinal fluid otorrhea secondary to congenital inner ear dysplasia: diagnosis and management of 18 cases / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

OBJECTIVE@#To describe the characteristics of the clinical presentation, diagnosis, surgical methods, and outcomes of patients with otogenic cerebrospinal fluid (CSF) leakage secondary to congenital inner ear dysplasia.@*METHODS@#A retrospective review was performed of 18 patients with otogenic CSF leakage secondary to inner ear dysplasia who underwent surgery in our group from 2007 to 2017 and had a follow-up of at least 4 months. The average length of follow-up was three years. The characteristics of the clinical presentations of all patients, such as self-reported symptoms, radiographic findings, surgical approaches and methods of repair, position of the leakage during surgery, and postoperative course, including the success rate of surgery, are presented.@*RESULTS@#The patients presented mostly with typical symptoms of meningitis, severe hearing impairment, and CSF otorrhea or rhinorrhea. All 18 patients had at least one previous episode of meningitis accompanied by a severe hearing impairment. The preoperative audiograms of 17 patients showed profound sensorineural hearing loss, and one patient had conductive hearing loss. Twelve patients presented with an initial onset of otorrhea, and two had accompanying rhinorrhea. Six patients complained of rhinorrhea, two of whom were misdiagnosed with CSF rhinorrhea and underwent transnasal endoscopy at another hospital. High-resolution computed tomography (HRCT) images can reveal developments in the inner ear, such as expansion of a vestibular cyst, unclear structure of the semicircular canal or cochlea, or signs of effusion in the middle ear or mastoid, which strongly suggest the possibility of CSF otorrhea. The children in the study suffered more severe dysplasia than adults. All 18 patients had CSF leakage identified during surgery. The most common defect sites were in the stapes footplates (55.6%), and 38.9% of patients had a leak around the oval window. One patient had a return of CSF otorrhea during the postoperative period, which did not re-occur following a second repair.@*CONCLUSIONS@#CSF otorrhea due to congenital inner ear dysplasia is more severe in children than in adults. The most common symptoms were meningitis, hearing impairment, and CSF otorrhea or rhinorrhea. HRCT has high diagnostic accuracy for this disease. The most common fistula site was around the oval window, including the stapes footplates and the annular ligament.

Avaliação auditiva periférica em crianças com síndrome de Down / Peripheral hearing evaluation in children with Down syndrome

Objetivo Caracterizar o sistema auditivo periférico de indivíduos com síndrome de Down, por meio da audiometria convencional e de altas frequências. Métodos Estudo do tipo transversal e observacional. Participaram 15 indivíduos com síndrome de Down, de ambos os gêneros, entre 7 e 15 anos de idade. Foram realizados os seguintes procedimentos: Meatoscopia, Timpanometria com pesquisa do reflexo acústico ipsilateral e contralateral, Audiometria Tonal, Audiometria Vocal e Audiometria de Altas Frequências. Resultados Houve predomínio de perda auditiva condutiva de grau leve, em uma ou ambas as orelhas. As médias dos limiares auditivos para a audiometria convencional ficaram abaixo de 20 dBNA e, para a audiometria de altas frequências, ficaram entre 20 e 40 dBNA. O coeficiente de correlação de Pearson revelou correlação moderada positiva, entre os limiares de 9 a 14 kHz e a idade. Conclusão De forma geral, não foram observadas diferenças significativas, quando comparadas as orelhas direita e esquerda de indivíduos com síndrome de Down, na audiometria tonal, imitanciometria e logoaudiometria. A maioria das crianças apresentou alteração de orelha média e perda auditiva condutiva. A audiometria de altas frequências sugere o início de prejuízo da função coclear, que pode estar associado às otites médias frequentes e/ou à degeneração coclear precoce. .

Purpose This study sought to characterize the peripheral auditory system of individuals with Down syndrome (DS) using conventional and high-frequency audiometry. Methods We performed a cross-sectional and observational study. Fifteen individuals with DS, who were of both genders and between 7 and 15 years of age, participated in this study. The following procedures were performed: otoscopy, tympanometry with ipsilateral and contralateral acoustic reflex, pure-tone audiometry, vocal audiometry and high-frequency audiometry. Results There was a predominance of mild conductive hearing loss in one or both ears. The mean hearing thresholds for conventional audiometry were below 20 dB HL and between 20 and 40 dB HL for high-frequency audiometry. The Pearson correlation coefficient indicated a moderate positive correlation between the 9-14 kHz thresholds and age. Conclusion Overall, no significant differences were observed when comparing the right and left ears of individuals with DS, in regards to pure-tone audiometry, immittance testing and speech audiometry. Most children showed middle ear abnormalities and conductive hearing loss. Moreover, high-frequency audiometry suggested the onset of impaired cochlear function, which may be associated with frequent otitis media episodes and/or early cochlear degeneration. .

Displasia de Mondini asociada a meningitis bacteriana recurrente, correlación clínico-imagenológica / Mondini dysplasia associated to recurrent bacterial meningitis-a clinical and imaging correlation

Se describe la displasia de Mondini asociada a pérdida auditiva y meningitis bacteriana recurrente. La malformación de Mondini representa el 30 por ciento de las anomalías congénitas del oído interno, puede ser unilateral o bilateral, y su principal característica consiste en el desarrollo coclear incompleto, causante de grados variables de hipoacusia neurosensorial. Se considera que la ocurrencia de esta malformación se produce por disrupción del desarrollo embrionario durante la séptima semana de gestación, en la cual se detiene el desarrollo coclear. Se presenta el caso de una niña de 12 años, atendida en los Servicios de Pediatría y Otorrinolaringología del Hospital Pediátrico Universitario William Soler, por presentar 3 infecciones meningoencefálicas, en las cuales se aisló Streptococcus pneumoniae serotipo 19F, y se constató hipoacusia neurosensorial severa en el oído izquierdo. La tomografía axial computarizada de alta resolución del oído (cortes axiales y coronales), evidenció la malformación coclear y vestibular, con presencia de tejido en el oído medio que se comunicaba directamente con el oído interno del lado izquierdo a nivel de la ventana oval. Se destaca la importancia de la sospecha clínica de displasia de Mondini, y el impacto científico de la tomografía computarizada del hueso temporal, para el diagnóstico precoz de fístula congénita en el oído interno asociada a meningitis bacteriana recurrente

Mondini dysplasia associated to hearing loss and recurrent bacterial meningitis was described in this paper. Mondini malformation accounts for 30 percent of congenital anomalies in the inner ear, either unilateral or bilateral, and its main characteristic is the incomplete cochlear development causing various grades of neurosensory hypoacusis. It is considered that the occurrence of this malformation results from the disruption of the embryonal development on the 7th week of gestation when the cochlear development ceases. This is the case of 12 years-old girl who was attended to at the pediatric and otorhinolaryngology service of William Soler" university pediatric hospital because she presented with three meningoencephalic infections from which Streptococcus pneumonia serotype 19F was isolated. It was also confirmed that she suffered severe neurosensory hypoacusis in her left ear. High-resolution computerized axial tomography of the ear (axial and coronal planes) evinced the cochlear and vestibular malformation, with tissue of the middle ear communicating directly with the inner ear of the left size at the oval window. This paper underlined the importance of the clinical suspicion of Mondini disease, and the scientific impact of the computerized axial tomography of the temporal bone in order to early diagnose the congenital fistula in the inner ear associated to recurrent bacterial meningitis

Utilidad de ePEAT en determinar candidatura para implante coclear en pacientes pediátricos con malformaciones de oído interno: comunicación preliminar / Use of ePEAT to determine candidacy for cochlear implant in pediatric patients with inner ear malformations: preliminary communication

En candidatos a implante coclear con malformaciones del oído interno donde se encuentra un nervio coclear anormal, los estudios tradicionales y las imágenes muchas veces no pueden dar respuesta definitiva acerca de la funcionalidad y presencia del nervio coclear. Para esto ayudarían los estudios de electrofisiología. Se presentan tres casos clínicos de pacientes con malformaciones del oído interno que fueron evaluados con ePEAT para ayudar a determinar su candidatura a implante coclear. Los estudios electrofisiológicos no reemplazan a los estudios tradicionales de evaluación auditiva ni a los estudios por imágenes, sino que los complementan. Los casos presentados, demuestran que en casos de malformaciones de oído interno o CAI muy estrecho, en que se cuestiona seriamente la existencia de un nervio coclear funcional, y en casos de neuropatía auditiva, se hace necesario evaluar la función de la cóclea separadamente de la del nervio auditivo y la función del tronco. Para esto se utilizamos los ePEAT. Los ePEAT entregan información valiosísima ya que nos permite conocer las reales capacidades de los pacientes para transmitir un estímulo auditivo hacia el sistema nervioso central, definiendo mejor las expectativas con el uso implante, asistiéndonos en nuestra toma de decisiones.

In cochlear implant candidates with inner ear malformations, where there is an abnormal cochlear nerve, traditional studies and images cannot often provide definitive answers about the functionality and presence of the cochlear nerve. In these cases, electrophysiology studies can be used. We present 3 cases of patients with inner ear malformations who were evaluated with ePEAT to determine their candidacy for a cochlear implant. Electrophysiological studies do not replace traditional hearing screening studies or imaging studies, but complement them. The cases presented in this study demonstrate that in patients with inner ear malformations or very narrow internal auditory canal, where we question the existence of a functional cochlear nerve, and in cases of auditory neuropathy, it is necessary to evaluate the cochlear function separately from the auditory nerve and from the brainstem. In these cases we use ePEAT. ePEAT give us valuable information about the real abilities of patients to transmit an auditory stimulus to the central nervous system, which help us to define expectations with cochlear implant use, assisting us in our decision-making.

Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome) / Anormalidades auriculares em pacientes com espectro óculo-aurículo-vertebral (síndrome de Goldenhar)

Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. PURPOSE: To investigate the ear abnormalities of a sample of patients with OAVS. MATERIALS AND METHODS: The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid computed tomography and with normal karyotype. We performed a review of its clinical features, giving emphasis to the ear findings. RESULTS: Nine patients were male, the ages ranged from 1 day to 17 years. Ear abnormalities were observed in all patients and involved the external (n=12), middle (n=10) and inner ear (n=3). Microtia was the most frequent finding (n=12). The most common abnormalities of the middle ear were: opacification (n=2), displacement (n=2) and malformation of the ossicular chain. Agenesis of the internal auditory canal (n=2) was the most frequent alteration of the inner ear. CONCLUSIONS: Ear abnormalities are variable in patients with OAVS and often there is no correlation between findings in the external, middle and inner ear. The evaluation of these structures is important in the management of individuals with OAVS.

O espectro óculo-aurículo-vertebral (EOAV) é uma condição rara caracterizada pelo envolvimento dos primeiros arcos branquiais. OBJETIVOS: Verificar as alterações auriculares de uma amostra de pacientes com EOAV. MATERIAL E MÉTODOS: A amostra foi constituída de 12 pacientes com EOAV atendidos no Serviço de Genética Clínica da UFCSPA/CHSCPA. Foram incluídos no estudo apenas pacientes submetidos à tomografia computadorizada de mastoide e com cariótipo normal. Realizou-se uma revisão dos seus achados clínicos, dando-se ênfase aos achados auriculares. RESULTADOS: Nove pacientes eram do sexo masculino, idades variaram de 1 dia a 17 anos. Anormalidades auriculares foram observadas em todos os pacientes e envolveram a orelha externa (n=12), média (n=8) e interna (n=3). A microtia foi o achado mais frequente (n=12). As alterações mais comuns da orelha média foram: opacificação da mesma (n=2), e o deslocamento (n=2) e a malformação da cadeia ossicular (n=2). A agenesia de conduto auditivo interno (n=2) foi a anormalidade mais frequente da orelha interna. CONCLUSÕES: Alterações auriculares são variáveis em pacientes com EOAV, não existindo muitas vezes uma correlação entre os achados da orelha externa, média e interna. A avaliação destas estruturas é importante dentro do manejo de indivíduos com EOAV.

Malformações das orelhas média e interna em dois casos de síndrome velocardiofacial / Middle and inner ear malformations in two cases of velocardiofacial syndrome

Objetivo: Descrever as características audiométricas e malformações das orelhas média e interna em dois pacientes portadores de síndrome velocardiofacial. Método: Avaliação audiométrica, tomografia computadorizada dos ossos temporais e análise de DNA, para marcadores múltiplos da região 22q11, foram realizadas em dois pacientes com sinais clínicos da síndrome velocardiofacial. Resultados: Perdas auditivas condutivas relacionadas com otite média crônica e malformações das orelhas média e interna foram encontradas, estas últimas com a utilização de reformatações baseadas em aquisições multislice da tomografia computadorizada dos ossos temporais. Conclusão: Consideramos de grande importância realizar uma completa avaliação e monitoramento da evolução da função auditiva, bem como do surgimento de sintomas relacionados à função vestibular em pacientes com a síndrome velocardiofacial. Do ponto de vista radiológico chamamos a atenção para o uso de técnicas de alta qualidade para o estudo tomográfico dos ossos temporais. Palavras chave: orelha, perda auditiva, velocardiofacial.

Objective: To describe audiometric characteristics and middle and inner ear malformations in two patients with velocardiofacial syndrome. Method: Audiometric evaluation, computerized tomography of the temporal bones and analysis of DNA for multiple markers of 22q11 region were performed in two patients with clinical signs of velocardiofacial syndrome. Results: Conductive hearing loss related to chronic otites media and middle and inner ear malformations were found, the latter with the use of reformations based on multislice acquisitions on of the computerized tomography of the temporal bones. Conclusion: We consider it to be highly important to carry out a thorough evaluation and monitoring of the hearing evolution, as well as the occurrence of symptoms related to the vestibular function in patients with velocardiofacial syndrome. From the radiological point of view, attention should be given to the use of high quality techniques for the tomographic study of temporal bones.

A Narrow Internal Auditory Canal with Duplication in a Patient with Congenital Sensorineural Hearing Loss

A narrow internal auditory canal (IAC) with duplication is a rare anomaly of the temporal bone. It is associated with congenital sensorineural hearing loss. Aplasia or hypoplasia of the vestibulocochlear nerve may cause the hearing loss. We present an unusual case of an isolated narrow IAC with duplication that was detected by a CT scan. In this case, the IAC was divided by a bony septum into an empty stenotic inferoposterior portion and a large anterosuperior portion containing the facial nerve that was clearly delineated on MRI.

Implantation cochleaire et malformation de l'oreille interne

Les indications de l'implant cochleaire se sont elargies depuis 1995. La plupart des candidats a l'implant sont des enfants sourds profonds congenitaux. L'implant peut actuellement se discuter dans certains cas particuliers notamment chez des enfants presentant une malformation de l'oreille interne (vesicule unique; malformation de type Mondini; Mondini-like; dilatation de l'aqueduc du vestibule). Les risques sont chirurgicaux et infectieux : geyser a la cochleostomie; paralysie faciale; otoliquorrhee secondaire et meningite. Nous rapportons le cas d'une fille agee de 4 ans et 8 mois qui a presente suite a un traumatisme minime une surdite brutale totale bilaterale qui n'a pas recupere sous traitement medical. L'audiometrie avait confirme la surdite bilaterale et l'examen orthophonique a retrouve un langage oral bien conserve. Une imagerie a ete pratiquee mettant en evidence une dilatation bilaterale des aqueducs du vestibule et des sacs endolymphatiques avec un aspect normal de la cochlee et des canaux semi-circulaires.La patiente a beneficiee d'une implantation cochleaire gauche avec des suites simples et un excellent resultat a 2 ans

Mondini dysplasia and pyogenic meningitis.

Mondini dysplasia with cerebrospinal fluid leak is a rare cause of recurrent pyogenic meningitis in children. We describe an eleven-year-old female child who presented with the fifth recurrent episode of pyogenic meningitis and unilateral sensorineural deafness. Mondini dysplasia of the inner ear with CSF-perilymph fistula was proven on an HRCT of the temporal bone and MRI. Successful operative intervention was undertaken to close the defect. Though rare, Mondini dysplasia should be considered as a cause of recurrent meningitis in children, especially if they have sensorineural deafness.

Malformaciones cocleares asociadas a meningitis a repetición / Choclear malformations associated to meningitis: CT findings

Las anomalías congénitas del hueso temporal son bastante variables, tanto desde el punto de vista anatómico como en lo que se refiere al tipo y severidad de la sordera resultante. En este caso se presentan dos pacientes pediátricos de 2 y 3 años, que presentaban meningitis a repetición de causa no determinada. La TC permitió descubrir la patología causante de las afecciones en estos pacientes y fue decisiva en el diagnóstico del origen de las meningitis a repetición que presentaban. En los pacientes pediátricos que presentaban meningitis a repetición es importante considerar en primera instancia a los procesos fistulosos como los causantes de esta patología. Dentro de los huesos que pueden presentar estas fístulas se encuentran el peñasco, el cual no debe ser dejado de lado en el examen clínico de estos pacientes. Las fístulas de peñasco vienen asociadas con malformaciones de oído interno y el método de imagen por excelencia para su evaluación sigue siendo la tomografía computada

Hipertensäo perilinfática: relato de caso e revisäo do assunto / Perilymphatic hypertension: review and case report

Os pacientes com hipertensäo têm queixa de surdez progressiva, muitas vezes acompanhada de zumbidos. A doença pode, também, manifestar-se por episódios repetidos de meningite, surdez súbita devido à ocorrência de fístula perilinfática ou pela saída profusa de líquido cefalorraquidiano, gusher, durante cirurgia, estapedectomia ou estapedotomia4,11,12. A paciente, R.V.C., 36 anos, foi submetida a estapedectomia para tratamento de otosclerose e, durante o ato cirúrgico, ocorreu otoliquorréia. A hipertensäo perilinfática foi controlada e foi possível a colocaçäo da prótese. O resultado cirúrgico foi satisfatório, houve ganho auditivo no ouvido direito operado (cerca de 30 dB). Foi feito estudo tomográfico que näo esclareceu a causa da hipertensäo perilinfática. Defeitos no modíolo, no aqueduto coclear ou alargamento do conduto auditivo interno devem ser investigados 2,14

Malformación congénita de oído interno y colesteatoma. Presentación de un caso / Congenital malformation on the inner ear with cholesteatoma. A case presentation

Se reporta el caso de una paciente femenina de 71 años con malformación congénita de oído interno de tipo Michel asociada a colesteatoma del oído medio. Presentaba anacusia derecha y otorrea purulenta fétida desde la infancia acompañada de dolor en mastoides, por lo que fue intervenida quirúrgicamente encontrando cavidad auditiva única con aplasia de oído interno, trayecto anómalo del nervio facial, dehiscencia de golfo de la yugular y de la carótida interna. Se limpió la cavidad y se protegieron las estructuras con aponeurosis temporal. El postoperatorio cursó satisfactoriamente con epitelización completa, sin otorrea ni recidiva colesteatomatosa

Large vestibular aqueduct syndrome

Large vestibular aqueduct syndrome [LVAS] is a radiologically diagnosed syndrome. Children with delayed speech and hearing loss without any middle ear disorder should arouse the suspicion of inner ear congenital anomaly. A computerized tomography [CT] scan is essential to rule out the possibility of LVAS in these children. Until recently no satisfactory treatment was available either to improve the hearing or to prevent further deterioration of hearing loss in this condition. The hearing loss in these two sisters began in childhood and progressed slowly. One of them also had a history of sudden diminution of hearing at one stage. Neither of them has had any vestibular symptoms. They were fitted with hearing aids and both the sisters are doing well in their education in normal school. Another two cases