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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. [ABSTRACT FROM AUTHOR]

Objective: To describe a case of idiopathic bilateral cochlear nerve atrophy acquired in adulthood. Patient: A 75-year-old male with acquired bilateral cochlear nerve atrophy. Intervention(s): Unilateral cochlear implantation. Main Outcome and Results: Description of a patient with acquired bilateral cochlear nerve atrophy diagnosed at the age of 75. The patient had normal hearing and no communication deficits until the age of 66. At this point, the patient demonstrated a slight asymmetric hearing loss, which progressed to severe sensorineural hearing loss. Due to the resulting communication deficit, cochlear device implantation candidacy was pursued. Pre-operative magnetic resonance imaging (MRI) showed severe atrophy versus absence of the cochlear nerves bilaterally. After careful counseling regarding the expected communication outcomes given the MRI findings, the patient underwent left-sided cochlear implantation. The patient gained sound awareness, but no additional communication benefit compared to pre-operative baseline abilities. Conclusion: Cochlear nerve deficiency is a known finding in certain cases of congenital and acquired hearing loss, but no cases of idiopathic adult-onset bilateral nerve atrophy have been reported. Without MR imaging, the clinically significant finding would not have been identified. Thus, MRI is advantageous when compared with other imaging modalities in patients with progressive sensorineural hearing loss and enables improved patient counseling regarding expected auditory and communication outcomes. [ABSTRACT FROM AUTHOR]

Objective: To identify and characterize hearing loss (HL) in children with septo-optic dysplasia (SOD). Methods: Otologic and audiometric data for patients less than 18 years of age identified as having SOD who were seen in the Children's Healthcare of Atlanta-Scottish Rite Hospital clinic between 2013 and 2017 were collected and reviewed through a HIPAA-compliant medical record search. Relevant literature was also reviewed with the assistance of Medline. Results: Sixty-four patients with SOD were identified, and 7 of those patients (10.9%) were diagnosed with hearing loss. Type of hearing loss was sensorineural (SNHL) in 5 patients (63%), mixed (MHL) in 1(14%), and conductive (CHL) in 1(14%). Bilateral loss presented in 60% (3/5) of SNHL patients, while the rest demonstrated unilateral loss. Unilateral findings included cochlear nerve deficiency (1) and atresia/microtia (1). Tympanostomy tubes were required in 57% (4/7) of SOD children with hearing loss. Amplification was successfully implemented in 86% (6/7). Conclusions: Hearing loss was found in nearly 11% of SOD children, and SNHL was identified as (63%) the predominant form of loss. To our knowledge, this is the first retrospective review of hearing loss in a pediatric SOD cohort and the first to report of cochlear nerve deficiency and atresia/microtia in this population. Based on these findings, early identification of hearing loss with imaging when appropriate and treatment of otitis in this population is recommended. [ABSTRACT FROM AUTHOR]

Presents audiological assessment of patients with Ramsay Hunt syndrome to cause the symptoms and signs of vestibulocochlear dysfunction. Likelihood to elicit hearing loss; Manifestation of abnormal and interpeak latencies of the auditory brain response; Malformation on the affected areas.