The Study Of Hrct And Mri Temporal Bone Findings In Pediatric Patients With Congenital Sensorineural Hearing Loss

Introduction -The incidence of Congenital Sensorineural hearing loss (SNHL) is approximately 1: 1000 live births. SNHLis either due to disorders of the inner ear or cochleovestibular cranial nerve. Radiological evaluation is necessary to detect or rule out causes of SNHL. Also, the treatment of SNHLis predominantly determined by the etiology of hearing loss. Aim & objective-Radiological assessment of various congenital inner ear malformations in pediatric age group patients with sensorineural hearing loss in a tertiary care centre.Material & Methods-This is a prospective study conducted between 1 January 2018 and 1 June 2019 in Department of Radiodiagnosis, SAIMS, Indore & included all paediatric patients (93 children), who came for HRCTand MRI temporal bone imaging with the clinical diagnosis of congenital sensorineural hearing loss (SNHL) / for evaluating congenital sensorineural hearing loss (SNHL).Results-In our study out of 93 paediatric patients , no significant radiological abnormality were detected in 68 patients (73.11%), however, 25 patients (26.88%) had various congenital anomalies of the inner ear and vestibulocochlear nerve. Most commonly affected organ was cochlea. Among these 25 patients only cochlea was involved in 7(28%), both Cochlea and semicircular canal in 4(16%), and Cochlea and vestibular aqueduct in 1 patient(4%). Isolated vestibular aqueduct dilatation was found in 8 (32%) patients. Isolated semicircular canal involvement and cochleovestibular nerve abnormality were seen in 3 (12%) and 2 (8%) patients respectively.Conclusion-In this study, imaging has helped us to detect various inner ear malformations in children with congenital sensorineural hearing loss. It is helpful for preoperative planning and preparation for cochlear implant in a tertiary care centre

The Relationship between the CT Phenotypes of the Inner Ear and Pathogenic Mutations of SLC26A4 in Patients with Sensorineural Hearing Loss / 听力学及言语疾病杂志

Objective To explore the relationship between the CT phenotypes of the inner ear and pathogenic mutations of SLC26A4,and analyze the feasibility of using the method of gene sequence analysis to help CT examination in diagnosing part of patients related to vestibular aqueduct malformation with sensorineural hearing loss.Methods A retrospective review of CT findings relating to 2 705 cases of outpatients was carried out.The inner ear malformations diagnosed by CT were classified according to the methods proposed by Sennaroglu 2010.The DNA sequence of SLC26A4 was analyzed in those patients to explore the relationship between the CT phenotypes and the pathogenic mutations of SLC26A4.Results A total of 826 cases of the inner ear malformations were found in 2 705 cases of patients with sensorineural hearing loss by CT examination.The 446 cases of cochlear malformation consisted of the follow types:5 cases of Michel deformity,12 cases of cochlear aplasia,6 cases of common cavity deformity,34 cases of cochlear hypoplasia (CH-Ⅰ type was 9 cases,CH-Ⅱ type was 8 cases and CH-Ⅲ type was 17 cases),389 cases of cochlear incomplete partition (22 cases of IP-Ⅰ type,352 cases of IP-Ⅱ type,15 cases of IP-Ⅲ type).The 380 cases of non-cochlea malformation consisted of the follow types:340 cases of large vestibular aqueduct,40 cases of simple vestibular/semicircular canal/internal auditory canal malformation,and 1 879 normal cases.The DNA sequence results revealed that 517 cases carried pathogenic mutations (B i-allelic mutations) of SLC26A4,among which 164 cases were homozygous and 353 cases were compound heterozygous.Pathogenic mutations of SLC26A4 detected 100 ％ (517/517) in the group related to vestibular aqueduct malformation and the positive rate was 74.71 ％ (517/692).Conclusion The results suggested that pathogenic mutations of SLC26A4 were closely related to the CT phenotypes of vestibular aqueduct malformation.An analysis of SLC26A4 can help CT examination to diagnose part of patients related to vestibular aqueduct malformation with sensorineural hearing loss.

The Clinical Characteristics of Patients with Deafness Gene Related Hearing Loss in Children / 听力学及言语疾病杂志

Objective To study the age, the degree of hearing loss and the characteristics of inner ear imaging in children with GJB2 and SLC26A4 gene mutation-related deafness.Methods A total of 218 children with GJB2 and SLC26A4 gene mutations were enrolled in this study.Among them, with the combined test of deafness gene chip and DNA sequencing, 123 patients were diagnosed with GJB2 homozygous or complex mutations, and 95 patients were diagnosed with SLC26A4 homozygous or complex mutations.The age of the onset, the degrees of hearing loss and CT features of the temporal bone in children with GJB2 and SLC26A4 mutations were studied.Results The incidence of GJB2 and SLC26A4 gene mutations was 43.09%, 37.40%, 14.63%, 4.88% and 24.2%, 44.21%, 18.95% and 12.63% in the periods of infancy,early childhood,preschool and shoolage,respectively.The age composition of onset in the two groups showed statistical significance(P=0.014).The constituent ratio of children with moderate, severe and extremely severe degrees of hearing loss in the two groups with GJB2 and SLC26A4 gene mutations were 8.94%, 17.89%, 73.17% and 9.47%, 34.74% and 55.79%, respectively.Most of the group with GJB2 gene mutation had profound hearing loss, and the composition ratio of hearing loss degree in SLC26A4 group was statistically significant(P=0.014).99.19% of the children with GJB2 gene mutation group had normal structures of the inner ears.Only one case of CT showed bilateral internal auditory canal stenosis.For 95.79% of the children with SLC26A4 gene mutation, the CT results of the temporal bone were associated with the vestibular aqueduct expansion.Conclusion The onset age of GJB2 gene mutation children is concentrated in the infancy.Most of them are with very severe sensorineural deafness, not associated with the inner ear malformation.The onset age of SLC26A4 gene deafness children is concentrated in the early childhood.Most of them are with severe and extremely sever sensorineural deafness, closely related to vestibular aqueduct expansion and inner ear malformations.

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.

A Case of Bilateral Horizontal Semicircular Canal Dysplasia with Normal Cochlea: Three Dimensional Volume Rendering Image Using MR CISS Sequence / 대한평형의학회지

Congenital inner ear malformations are frequently found in patients with sensorineural hearing loss, but isolated vestibular anomalies with normal cochlear development have been rarely reported. We report a 20-year-old man with recurrent dizziness and disequlibrium without hearing impairment. Neuro-otological evaluations showed a left peripheral vestibulopathy with normal hearing function. Three dimensional volume rendering image using magnetic resonance constructive interference in steady state sequence demonstrated isolated vestibular anomalies involving bilateral horizontal semicircular canals. Isolated vestibular anomalies might not be as rare as previously thought among patients with recurrent dizziness, and should be carefully evaluated through various imaging techniques.

Analysis of imaging of inner ear malformations in children with congenital sensorineural hearing loss / 上海第二医科大学学报

Objective To study the imaging of inner ear malformations in children with congenital sensorineural hearing loss(SNHL).Methods CT and MRI examinations were performed on children with SNHL diagnosed by audiological test.One hundred and eighty-eight patients with complete imaging information were obtained.The imaging of inner ear malformations was analyzed according to Sennaroglu's classification. Results Thirty-five patients(54 ears) were found with inner ear malformations by CT and MRI,3 of whom(5 ears) were accompanied by outer and middle ear malformations.Among the 35 patients,2(4 ears) were found to be common cavity deformity,1(1 ear) cochlear hypoplasia,13(26 ears) incomplete partition II(Mondini deformity),4(7 ears) vestibule dilation,13(19 ears) semicircular canal deformity and 19(34 ears) large vestibular aqueduct.Internal auditory canal was found narrow in 7 patients(10 ears) and wide in 1(2 ears) with classic Mondini deformity. Conclusion CT and MRI examinations are of great importance to the diagnosis and treatment of inner ear malformations in children with congenital SNHL,especially for the candidates of cochlear implantation.

Congenital Inner Ear Malformation: Three Dimensional Volume Rendering Image Using MR CISS Sequence

PURPOSE: To evaluate three-dimensional volume-rendering of congenital inner-ear malfornations using the MR CISS (Constructive Interference in Steady State) sequence. MATERIALS AND METHODS: MR CISS images of 30 inner ears of 15 patients (M:F=10:5; mean age, 6.5years) in whom inner-ear malfornation was suspected were obtained using a superconducting Magnetom Vision System (Simens, Erlangen, Germany), with TR/TE/FA parameters of 12.25 ms/5.9 ms/70 degree. The images obtained were processed by means of the volume rendering technique at an advanced workstation (Voxtol 3.0.0; GE Systems, advanced workstation, volume analysis). The cochlea and three semicircular canals were morphologically evaluated. RESULTS: Volume-rendered images of 25 inner ears of 13 patients demonstrated cochlear anomalies in the form of incomplete partition (n=18), hypoplasia (n=2), and severe hypoplasia (n=5). For the superior semicircular canal, findings were normal in 15 ears, though common crus aplasia (n=6), hypoplasia (n=4), aplasia (n=3), and a short and broad shape (n=2) were also observed. The posterior semicircular canal of 13 ears was normal, but common crus aplasia (n=6), a short and broad shape (n=5), aplasia (n=4), hypoplasia (n=3) were also identified. Twelve lateral semicircular canals, were normal, but other images depicted a short and broad shape (n=7), a dilated crus (n=5), a broad shape (n=4), and aplasia (n=2). In 14 patients the anomalies were bilateral, and in seven, the same anomalies affected both ears. CONCLUSION: Three-dimensional volume rendering images of the inner ear depicted various morphological abnormalities of the cochlea and semicircular canals. At that locations, anomalies were more complicated and varied than in the cochlea. Three-dimensional volume rendering imaging using the MR CISS technique provides anatomical information regarding the membranous labyrinth, and we consider this useful in the evaluation of congenital inner ear malformations.