Research progress on incomplete partition type 3 inner ear malformation.

PURPOSE: This review aims to provides a comprehensive overview of the latest research progress on IP-III inner ear malformation, focusing on its geneticbasis, imaging features, cochlear implantation, and outcome. METHODS: Review the literature on clinical and genetic mechanisms associated with IP-III. RESULTS: Mutations in the POU3F4 gene emerge as the principal pathogenic contributors to IP-III anomalies, primarily manifesting through inner ear potential irregularities leading to deafness. While cochlear implantation stands as the primary intervention for restoring hearing, the unique nature of the inner ear anomaly escalates the complexity of surgical procedures and postoperative results. Hence, meticulous preoperative assessment to ascertain surgical feasibility and postoperative verification of electrode placement are imperative. Additionally, gene therapy holds promise as a prospective treatment modality. CONCLUSIONS: IP-III denotes X-linked recessive hereditary deafness, with cochlear implantation currently serving as the predominant therapeutic approach. Clinicians are tasked with preoperative assement and individualized postoperative rehabilitation.

Machine learning-based prediction of the outcomes of cochlear implantation in patients with inner ear malformation.

OBJECTIVE: The objectives of this study are twofold: first, to visualize the structure of malformed cochleae through image reconstruction; and second, to develop a predictive model for postoperative outcomes of cochlear implantation (CI) in patients diagnosed with cochlear hypoplasia (CH) and incomplete partition (IP) malformation. METHODS: The clinical data from patients diagnosed with cochlear hypoplasia (CH) and incomplete partition (IP) malformation who underwent cochlear implantation (CI) at Beijing Tongren Hospital between January 2016 and August 2020 were collected. Radiological features were analyzed through 3D segmentation of the cochlea. Postoperative auditory speech rehabilitation outcomes were evaluated using the Categories of Auditory Performance (CAP) and the Speech Intelligibility Rating (SIR). This study aimed to investigate the relationship between cochlear parameters and postoperative outcomes. Additionally, a predictive model for postoperative outcomes was developed using the K-nearest neighbors (KNN) algorithm. RESULTS: In our study, we conducted feature selection by using patients' imaging and audiological attributes. This process involved methods such as the removal of missing values, correlation analysis, and chi-square tests. The findings indicated that two specific features, cochlear volume (V) and cochlear canal length (CDL), significantly contributed to predicting the outcomes of hearing and speech rehabilitation for patients with inner ear malformations. In terms of hearing rehabilitation, the KNN classification achieved an accuracy of 93.3%. Likewise, for speech rehabilitation, the KNN classification demonstrated an accuracy of 86.7%. CONCLUSION: The measurements obtained from the 3D reconstruction model hold significant clinical relevance. Despite the considerable variability in cochlear morphology across individuals, radiological features remain effective in predicting cochlear implantation (CI) prognosis for patients with inner ear malformations. The utilization of 3D segmentation techniques and the developed predictive model can assist surgeons in conducting preoperative cochlear structural measurements for patients with inner ear malformations. This, in turn, can offer a more informed perspective on the anticipated outcomes of cochlear implantation.

Evaluation of subarcuate canal on CT images in the perspective of clinical basis.

OBJECTIVES: The aim of our study to contribute to the field of morphometrics by including measurements of the SAC and SAF and their distances from surrounding structures, particularly for surgeons involved in retrosigmoid approach for internal acoustic meatus tumor surgery and cerebellopontine angle surgery. Although there is limited information in the literature regarding the role of the subarcuate fossa (SAF) and subarcuate canal (SAC), it has been suggested that the SAC may be a potential pathway for infection from the middle ear to the posterior cranial fossa, and cerebellar abscesses may have this origin. METHODS: For the images of our study, computerized tomography images of 118 individuals (59 females and 59 males) between the ages of 18-65 who applied to Bayindir Health Group. RESULTS: The width of the cranial opening of the subarcuate canal was determined as 44 ± 0.54 mm, width of the labyrinth opening of the subarcuate canal was determined as 60 ± 0.42 mm, Length of the subarcuate canal was determined as 8.79 ± 2.31 mm, width of the subarcuate canal was determined as 5.54 ± 1.75 mm, and depth of subarcuate fossa was determined as 1.67 ± 0.69 mm. The distance of the cranial opening of the subarcuate canal to the superior semicircular canal (SSC-SAC/C) was measured as 5.33 ± 1.81 mm, The distance of the labyrinth opening of the subarcuate canal to the superior semicircular canal (SSC-SAC/L) was measured as 3.90 ± .98 mm, length of the petrous part of the temporal bone medial to the anterior semicircular canal measured from the apex to the SSCD (PLM) was measured as 33.56 ± 0.42 mm. No statistically significant differences were found between the right and left sides. CONCLUSIONS: The morphometric measurements obtained in this study can provide useful information for neurosurgeons, neurotologist and otolaryngologists involved in retrosigmoid approach for internal acoustic meatus tumor surgery and cerebellopontine angle surgery, and for patients undergoing cochlear implant planning with a retrofacial approach.

Long-term outcomes and electrophysiological measures of children with inner ear malformations and cochlear implants.

OBJECTIVES: To compared auditory and speech performance outcomes of children with cochlear implants (CI), between those with inner ear malformations (IEMs) and with normal ear anatomy; and to describe differences in electrophysiological measurements. STUDY DESIGN: A retrospective study. SETTING: A tertiary care pediatric medical center. PATIENTS: Forty-one children with IEMs who underwent CI during 2003-2017, and 41 age-matched CI recipients with normal ear anatomy (control group). MAIN OUTCOME MEASURES: Post-CI auditory performance outcomes including educational setting, Categories of Auditory Performance (CAP), and Speech Intelligibility Rating (SIR); and electrophysiological measurements, Including maximal comfortable electrical levels (CLs) and impedances along CI electrodes. RESULTS: The ANOVA on ranks revealed lower CAP scores in the study than control group: H3 = 18.8, P < 0.001. Among children with IEMs, CAP scores were better in children with enlarged vestibular aqueduct (EVA) (P < 0.04). SIR scores of the control group did not differ from those with isolated EVA; however, SIR scores of the IEMs without EVA subgroup were lower than all the other study subgroups (P < 0.01). The proportion of the control group that was integrated with full inclusion educational settings into the regular mainstream schools was higher than for those with IEMs without EVA (47 % vs. 15 %, P < 0.05), but similar to those with isolated EVA. For the study group versus control group, maximal comfortable electrical levels (CLs) were higher)P > 0.03) while impedance measurements were similar. CONCLUSIONS: Outcomes of pediatric recipients with normal anatomy were better than those with IEMs. Among pediatric recipients of CI with IEMs, auditory performance was better and CLs were lower among children with isolated EVA than all other IEM subgroups.

A novel radiological software prototype for automatically detecting the inner ear and classifying normal from malformed anatomy.

BACKGROUND: To develop an effective radiological software prototype that could read Digital Imaging and Communications in Medicine (DICOM) files, crop the inner ear automatically based on head computed tomography (CT), and classify normal and inner ear malformation (IEM). METHODS: A retrospective analysis was conducted on 2053 patients from 3 hospitals. We extracted 1200 inner ear CTs for importing, cropping, and training, testing, and validating an artificial intelligence (AI) model. Automated cropping algorithms based on CTs were developed to precisely isolate the inner ear volume. Additionally, a simple graphical user interface (GUI) was implemented for user interaction. Using cropped CTs as input, a deep learning convolutional neural network (DL CNN) with 5-fold cross-validation was used to classify inner ear anatomy as normal or abnormal. Five specific IEM types (cochlear hypoplasia, ossification, incomplete partition types I and III, and common cavity) were included, with data equally distributed between classes. Both the cropping tool and the AI model were extensively validated. RESULTS: The newly developed DICOM viewer/software successfully achieved its objectives: reading CT files, automatically cropping inner ear volumes, and classifying them as normal or malformed. The cropping tool demonstrated an average accuracy of 92.25%. The DL CNN model achieved an area under the curve (AUC) of 0.86 (95% confidence interval: 0.81-0.91). Performance metrics for the AI model were: accuracy (0.812), precision (0.791), recall (0.8), and F1-score (0.766). CONCLUSION: This study successfully developed and validated a fully automated workflow for classifying normal versus abnormal inner ear anatomy using a combination of advanced image processing and deep learning techniques. The tool exhibited good diagnostic accuracy, suggesting its potential application in risk stratification. However, it is crucial to emphasize the need for supervision by qualified medical professionals when utilizing this tool for clinical decision-making.

Exploration of different electrode types inserted in a 3D model of a patient with incomplete partition type III inner ear malformation.

BACKGROUND: Incomplete partition type III (IP III) represents a rare malformation of the inner ear, posing challenges during cochlear implantation due to inevitable cerebrospinal fluid (CSF) leaks and the potential misplacement of electrodes within the internal auditory canal (IAC). Despite the absence of a consensus on electrode selection, literature suggests both straight and perimodiolar electrodes as viable options for proper insertion. Limited implantation series contribute to the ambiguity in electrode choice. In this study, we evaluated the insertion performance of three electrode types in a 3D model simulating an IP III patient's inner ear. METHODS: A 3D model replicating the inner ear of a patient with IP III undergoing surgery was created, incorporating a canal wall up mastoidectomy and an enlarged round window approach. Insertions were carried out using a straight electrode, a perimodiolar electrode, and a slim perimodiolar electrode, inserted through a sheath in the basal turn of the cochlea. Electrode positions were assessed after each insertion, with each type being tested 20 times. RESULTS: Successful insertion rates were 95 % for the slim perimodiolar electrode, 85 % for the perimodiolar electrode, and 75 % for the slim straight electrode. Notably, the slim perimodiolar electrode required an adapted insertion technique due to the altered cochlear position in IP III cases. Statistical analysis revealed the slim perimodiolar electrode's superiority over the slim straight electrode in achieving successful insertions. CONCLUSIONS: The 3D model of the IP III inner ear proved to be an effective tool for electrode testing and insertion training prior to surgery. Following multiple insertions in the 3D model, the slim perimodiolar electrode demonstrated the highest success rate, emphasizing its potential as the preferred choice for cochlear implantation in IP III cases.

[The value of HRCT in predicting cerebrospinal fluid gusher during cochlear implantation].

Objective:To investigate the predictive value of temporal bone high-resolution CT（HRCT） multiplanar reconstruction（MPR） for cerebrospinal fluid（CSF） gusher during cochlear implantation in patients with inner ear malformation. Methods:The clinical data of 33 patients（36 ears） with inner ear malformation who underwent cochlear implantation were retrospectively analyzed. The predictive value of HRCT for cerebrospinal fluid gusher during cochlear implantation was evaluated. Results:The width of the cochlear foramen（P=0.024, OR=1.735） and the diameter of the inner auditory meatus（P=0.022, OR=6.119） were independent risk factors for CSF gusher during cochlear implantation. The area under the curve（AUC） of cochlear foramen width in predicting intraoperative gusher was 0.851, the sensitivity was 93.33%, and the specificity was 61.90%. The AUC of the upper and lower diameter of the internal auditory canal for predicting intraoperative gusher was 0.848, the sensitivity was 80.00%, and the specificity was 80.95%. The AUC of cochlear foramen width combined with the upper and lower diameters of the internal auditory meatus for predicting intraoperative gusher was 0.930, the sensitivity was 80.00%, and the specificity was 95.24%. Conclusion:Based on temporal bone HRCT, the prediction model of cochlear foramen width combined with the upper and lower diameter of the internal auditory canal has crucial predictive value for the "gusher" during cochlear implantation in patients with inner ear malformation.

[Deep transfer learning radiomics model based on temporal bone CT for assisting in the diagnosis of inner ear malformations].

Objective:To evaluate the diagnostic efficacy of traditional radiomics, deep learning, and deep learning radiomics in differentiating normal and inner ear malformations on temporal bone computed tomography（CT）. Methods:A total of 572 temporal bone CT data were retrospectively collected, including 201 cases of inner ear malformation and 371 cases of normal inner ear, and randomly divided into a training cohort（n=458） and a test cohort（n=114） in a ratio of 4∶1. Deep transfer learning features and radiomics features were extracted from the CT images and feature fusion was performed to establish the least absolute shrinkage and selection operator. The CT results interpretated by two chief otologists from the National Clinical Research Center for Otorhinolaryngological Diseases served as the gold standard for diagnosis. The model performance was evaluated using receiver operating characteristic（ROC）, and the accuracy, sensitivity, specificity, and other indicators of the models were calculated. The predictive power of each model was compared using the Delong test. Results:1 179 radiomics features were obtained from traditional radiomics, 2 048 deep learning features were obtained from deep learning, and 137 features fusion were obtained after feature screening and fusion of the two. The area under the curve（AUC） of the deep learning radiomics model on the test cohort was 0.964 0（95%CI 0.931 4-0.996 8）, with an accuracy of 0.922, sensitivity of 0.881, and specificity of 0.945. The AUC of the radiomics features alone on the test cohort was 0.929 0（95%CI 0.882 2-0.974 9）, with an accuracy of 0.878, sensitivity of 0.881, and specificity of 0.877. The AUC of the deep learning features alone on the test cohort was 0.947 0（95%CI 0.898 2-0.994 8）, with an accuracy of 0.913, sensitivity of 0.810, and specificity of 0.973. The results indicated that the prediction accuracy and AUC of the deep learning radiomics model are the highest. The Delong test showed that the differences between any two models did not reach statistical significance. Conclusion:The feature fusion model can be used for the differential diagnosis of normal and inner ear malformations, and its diagnostic performance is superior to radiomics or deep learning models alone.

Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant.

OBJECTIVES: Pendred syndrome, an autosomal recessive disorder, is often associated with pathogenic variants of the SLC26A4 gene that encodes the pendrin protein. Given its autosomal recessive inheritance, tracing the family history and screening siblings become crucial once a diagnosis of Pendred syndrome is confirmed. This case report aims to underscore the variability in inner ear morphology within a family diagnosed with Pendred syndrome, all carrying the same SLC26A4 gene mutation. METHODS: A chart review and a review of the literature. RESULTS: We present a family of 4, all of whom possess sensorineural hearing loss due to the same homozygous SLC26A4 variant c.919-2A>G. Intriguingly, clinical manifestations, especially inner ear deformities, displayed variability among family members. Notably, 1 family member exhibited a normal cochleovestibular structure morphology, which was rarely reported in the literature. CONCLUSIONS: This report highlights the significance of genetic testing and familial consultation when a proband exhibits typical Pendred syndrome symptoms. It also underscores that the inner ear morphology can exhibit variability among family members, even with the same homozygous SLC26A4 variant.

Congenital ear malformation (CEM).

BACKGROUND: At present, there are not international unified standards and reports on Congenital Ear Malformation (CEM) in the world, which makes it difficult to transfer information and compare the literature. AIMS/OBJECTIVES: Through the statistical analysis of a large sample of CEM, a unified standard of all aspects of CEM is proposed and the data are provided for reference, which is convenient for the international work and literature comparison in this field. MATERIALS AND METHODS: Based on the author's 30 years of clinical and scientific research work on CEM and the relevant cases of 3231 (4714 ears) in our hospital, and combined with literature, statistical analysis was made. RESULTS: This paper summarizes the classification, definition, epidemiology, embryonic development, pathogenic factors of CEM and elaborates on the clinical manifestations, examination and sequence therapy of representative Congenital Malformation of the Middle and Outer Ear (CMMOE). We also introduce malformation of the auricle and inner ear, so as to cover the outer, middle and inner ear. At the same time, we introduce our achievements and contributions in this field. CONCLUSIONS AND SIGNIFICANCE: This study provides reference to the international unified standard and treatment principle of the CEM.

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.

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.

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

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

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