scholarly journals Imaging in a Rare Case of Unilateral External and Middle Ear Anomalies Associated with Inner Ear Malformation

2021 ◽  
Author(s):  
Anagha R. Joshi ◽  
Anisha O. Talreja ◽  
Mrinalini M. Rahatgaonkar ◽  
Harshal A. Badgujar
Keyword(s):  
Inner Ear ◽  
Middle Ear ◽  
Critical Role ◽  
Cross Sectional ◽  
Pediatric Age Group ◽  
Inner Ear Malformation ◽  
Ear Malformations ◽  
Cross Sectional Imaging ◽  
Ear Anomalies ◽  
Speech And Language Development

AbstractExternal ear malformations are commonly associated with middle ear malformations due to their closely related embryogenesis. Inner ear anomalies are less consistently seen due to their independent development. Cross-sectional imaging has come to play a critical role in the workup of congenital deafness in the pediatric age group. To optimize speech and language development, early diagnosis and treatment are very crucial. Identification of these anomalies is additionally important when operative intervention is being planned because they may complicate or perhaps preclude the surgery.

Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in Bilateral Deafness Patients with Inner Ear Malformation

2012 ◽  
Vol 146 (6) ◽  
pp. 972-978 ◽  
Author(s):  
Kaitian Chen ◽  
Xianren Wang ◽  
Liang Sun ◽  
Hongyan Jiang
Keyword(s):  
Inner Ear ◽  
Hearing Impairment ◽  
Pathogenic Mutation ◽  
Cross Sectional Study ◽  
Chinese Patients ◽  
Cross Sectional ◽  
Direct Dna Sequencing ◽  
Inner Ear Malformation ◽  
Ear Malformations ◽  
Gjb2 Mutations

Objective. Bilateral nonsyndromic sensorineural hearing loss associated with inner ear malformation is closely related to genetics. SLC26A4 is considered to be the major involved gene. Recently, FOXI1 and KCNJ10 mutations have been linked to enlarged vestibular aqueducts and GJB2 mutations linked to temporal bone malformation. The authors aimed to investigate the mutation spectrums of these genes in Chinese patients with bilateral hearing impairment associated with inner ear malformation. Study Design. Cross-sectional study. Setting. Affiliated hospital of the university. Subjects and Methods. The authors analyzed the GJB2, SLC26A4, FOXI1, and KCNJ10 gene sequences in 43 patients presenting with bilateral hearing impairment associated with inner ear malformation using pyrosequencing and direct DNA sequencing. Results. In total, 74.4% (32/43) of patients carried at least 1 of 14 pathogenic SLC26A4 mutations, including 6 novel mutations and 4 polymorphisms. Patients with enlarged vestibular aqueducts had a higher rate of SLC26A4 mutation than Mondini dysplasia patients. No FOXI1 or KCNJ10 potential pathogenic mutation was present, and GJB2 biallelic pathogenic mutations were uncommon (2.3%; 1/43). No significant correlation was observed between the genotype and phenotype of SLC26A4 mutations. Conclusion. SLC26A4 accounts for 74.4% of inner ear malformations in our cohort, whereas FOXI1, KCNJ10, and GJB2 mutations are not common. Other possible genes or external factors may contribute to this multibranch abnormality.

Congenital Perilymphatic Fistula: Computed Tomography Appearance of Middle Ear and Inner Ear Anomalies

1994 ◽  
Vol 111 (3P1) ◽  
pp. 243-249 ◽  
Author(s):  
Jane L. Weissman ◽  
Peter C. Weber ◽  
Charles D. Bluestone
Keyword(s):  
Computed Tomography ◽  
Retrospective Study ◽  
Inner Ear ◽  
Middle Ear ◽  
Round Window ◽  
Clinical Suspicion ◽  
Perilymphatic Fistula ◽  
Computed Tomography Scans ◽  
Ear Anomalies ◽  
Tomography Appearance

Congenital perilymphatic fistula is an abnormal communication between the inner ear and middle ear. Inner ear anomalies have been described on computed tomography scans. Middle ear anomalies have been found at surgery; the most frequent are anomalies of the stapes and round window. This retrospective study describes the appearance of the inner and middle ear on computed tomography scans, and of the middle ear at surgery, in 10 patients (15 ears) in whom perilymphatic fistula was found at surgery. Twelve of 15 stapes were abnormal at surgery; 4 of these 12 (33%) could be seen on computed tomography scans. Two stapes normal at surgery were normal on computed tomography. Three round windows were abnormal at surgery; none of these was seen on computed tomography scans. There were also four dysplastic cochleas, four dysplastic vestibules, and three dilated vestibular aqueducts. Computed tomography scans identified an abnormal inner ear, middle ear, or both in 8 (53%) of the 15 ears with perilymphatic fistula. An inner ear or middle ear anomaly on computed tomography may heighten clinical suspicion of congenital perilymphatic fistula.

Inner-ear malformations as a cause of single-sided deafness

2020 ◽  
Vol 134 (6) ◽  
pp. 509-518
Author(s):  
E Tahir ◽  
M D Bajin ◽  
S Jafarov ◽  
M Ö Yıldırım ◽  
B Ç Çınar ◽  
...  
Keyword(s):  
Inner Ear ◽  
Internal Auditory Canal ◽  
Cochlear Nerve ◽  
Resonance Imaging ◽  
Radiological Findings ◽  
Inner Ear Malformations ◽  
Disease Prognosis ◽  
Inner Ear Malformation ◽  
Ear Malformations ◽  
Single Sided Deafness

AbstractObjectiveTo determine the prevalence and distribution of inner-ear malformations in congenital single-sided deafness cases, as details of malformation type are crucial for disease prognosis and management.MethodsA retrospective study was conducted of 90 patients aged under 16 years with congenital single-sided deafness. Radiological findings were evaluated using computed tomography and magnetic resonance imaging. Inner-ear malformations were identified and cochlear nerve status was determined in affected ears.ResultsOut of 90 ears, 42 (46.7 per cent) were found to have inner-ear malformation. Isolated cochlear aperture stenosis was the most common anomaly (n = 18, 20 per cent), followed by isolated cochlear aperture atresia (n = 11, 12.2 per cent) and cochlear hypoplasia (n = 7, 7.8 per cent). Cochlear nerve deficiency was encountered in 41 ears (45.6 per cent). The internal auditory canal was also stenotic in 49 ears (54.4 per cent).ConclusionInner-ear malformations, especially cochlear aperture anomalies, are involved in the aetiology of single-sided deafness more than expected. The cause of single-sided deafness differs greatly between congenital and adult-onset cases. All children with single-sided deafness should undergo radiological evaluation, as the prognosis and management, as well as the aetiology, may be significantly influenced by inner-ear malformation type.

Sequential Bilateral Cochlear Implantation in a Child with Severe External, Middle, and Inner Ear Malformations: Surgical Considerations and Practical Aspects

ORL ◽  
2021 ◽  
pp. 1-7
Author(s):  
Dejun Zhang ◽  
Yongyi Yuan ◽  
Yu Su ◽  
Guojian Wang ◽  
Chang Guo ◽  
...  
Keyword(s):  
Facial Nerve ◽  
Inner Ear ◽  
Middle Ear ◽  
Cochlear Implantation ◽  
Intraoperative Imaging ◽  
Preoperative Imaging ◽  
Anatomical Landmarks ◽  
Inner Ear Malformations ◽  
Facial Nerve Monitoring ◽  
Ear Malformations

Cochlear implantation (CI) is a safe and beneficial surgery for children with congenital inner ear malformations, with the exception of cochlear nerve aplasia. The combination of microtia with middle and inner ear abnormalities is extremely uncommon and sufficiently severe to make a surgical approach to the cochlea difficult. We report herein the case of a 2-year-old girl who presented with profound bilateral sensorineural hearing loss, congenital aural atresia, microtia, and inner ear malformations. High-resolution computed tomography revealed poor development of the bilateral middle ear spaces, absence of the incus and stapes, aberrant courses of facial nerves, aplastic lateral semicircular canals, and covered round windows. With intraoperative imaging assistance, sequential bilateral CI was performed using a transmastoid approach with no complication. We propose that CI is feasible in patients with severe external and middle ear malformations. However, major malformations increase the risk of complications. As the facial nerve and cochlea are difficult to locate due to the lack of important anatomical landmarks, detailed planning and adequate preparation, including review of the preoperative imaging data, and the use of facial nerve monitoring and intraoperative imaging are very important. In addition, experienced surgeons should perform CI to ensure the success of the operation.

scholarly journals Revision Stapedectomy in a Female Patient with Inner Ear Malformation

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Tirth R. Patel ◽  
Aaron C. Moberly
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Female Patient ◽  
Stapes Surgery ◽  
Mixed Hearing Loss ◽  
Inner Ear Malformation ◽  
Ear Malformations ◽  
Surgical History ◽  
History Of ◽  
Cochlear Malformation

Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient’s risk of perilymph gusher during stapes surgery.Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multiple unsuccessful previous ear surgeries. Computed tomography revealed bilateral inner ear malformations. She elected to proceed with revision stapedectomy.Results. The patient received modest benefit to hearing, and no operative complications occurred.Conclusions. Although stapedectomy has been shown to improve hearing in patients with stapes fixation, there is risk of perilymph gusher in patients with inner ear abnormalities. Evaluation and counseling of the risk of gusher during stapes surgery should be done on a case-by-case basis.

scholarly journals A Rare Case of Chronic Appendicitis Superimposed on an Incarcerated de Garengeot Hernia Prospectively Identified on Computed Tomography

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Alyssa Goldbach ◽  
Partha Hota ◽  
Andrew Czulewicz ◽  
Christine Burgert-Lon ◽  
Omar Agosto
Keyword(s):  
Femoral Hernia ◽  
Surgical Intervention ◽  
Incidental Finding ◽  
Critical Role ◽  
Fluid Collection ◽  
Cross Sectional ◽  
Chronic Appendicitis ◽  
Hernia Sac ◽  
Cross Sectional Imaging ◽  
De Garengeot Hernia

The de Garengeot hernia is an uncommon and potentially confounding pathologic process in which the appendix is contained within a femoral hernia. While typically a benign incidental finding, superimposed acute appendicitis is a rare but serious complication. Identification of this entity is crucial to patient management and ultimately outcome with imaging playing a critical role. Cross-sectional imaging, with either CT or MRI, should be performed in all cases of suspected incarcerated de Garengeot hernia to facilitate the appropriate diagnosis and surgical intervention. Herein, we present the fifth case of a prospective CT diagnosis of the de Garengeot hernia in a 61-year-old female who presented with an irreducible right femoral hernia. The patient underwent CT examination which demonstrated the appendix within the femoral hernia sac with an associated periappendiceal fluid collection. The patient was taken for emergent surgical intervention at which time the appendix was found within the hernia sac. The appendix was removed, the defect repaired, and ultimately the patient recovered well.

Partial Duplication of the Lateral Semicircular Canal—A Novel Anatomical Malformation in a Child with Barakat Syndrome

2021 ◽  
Author(s):  
Varun Kannan ◽  
Brandon Tran
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Semicircular Canal ◽  
Sensorineural Deafness ◽  
Anatomical Variations ◽  
Lateral Semicircular Canal ◽  
Partial Duplication ◽  
Posterior Limb ◽  
Ear Malformations ◽  
Ear Anomalies

AbstractSeveral known genetic causes of sensorineural deafness are associated with dysplasia of inner ear structures, including the cochlea and labyrinth. Here, we present a child with Barakat syndrome and sensorineural hearing loss, found to have multiple inner ear anomalies including partial duplication of the posterior limb of the left lateral semicircular canal. To our knowledge, duplication of the semicircular canal has not previously been reported. This finding expands our understanding of the range of anatomical variations observed in congenital inner ear malformations, and further characterizes the phenotypic manifestations of Barakat syndrome.

Temporal Bone Histopathology in Charge Association

2002 ◽  
Vol 111 (5) ◽  
pp. 397-401 ◽  
Author(s):  
Shin-Ichi Haginomori ◽  
Makoto Miura ◽  
Isamu Sando ◽  
Margaretha L. Casselbrant
Keyword(s):  
Inner Ear ◽  
Temporal Bone ◽  
Middle Ear ◽  
Congenital Heart ◽  
The Other ◽  
Otologic Surgery ◽  
Charge Association ◽  
Ear Anomalies ◽  
Temporal Bones ◽  
Central Nervous System Anomalies

Three temporal bones obtained at autopsy from 2 patients with CHARGE association (Coloboma, congenital Heart disease, Atresia of choanae, mental Retardation and/or central nervous system anomalies, Genital hypoplasia, and Ear anomalies) were examined histopathologically. Both temporal bones from 1 patient showed multiple anomalies in the middle ear, inner ear, and facial nerve. However, the temporal bone obtained from the other patient showed almost normal structures in the inner ear, middle ear, and eustachian tube. These results are different from those of 2 previous reports of temporal bone histopathology regarding CHARGE association. This difference suggests that CHARGE association may arise not from one etiopathogenetic factor, but from complex factors. Special attention to dehiscent facial canal and perilymphatic gusher during otologic surgery in patients with CHARGE association is discussed.

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