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IT-DEX injection effectively improves hearing in patients with severe or profound SSNHL after treatment failure with standard therapy and is not associated with major side effects. It is therefore a reasonable alternative as salvage treatment.

This is the first report of cochlear implantation in a patient with bilateral aural atresia, microtia, and profound sensorineural HL in conjunction with multiple inner ear abnormalities. Close collaboration among the otologist, neuroradiologist, and plastic surgeon is essential to coordinate surgical management and optimize cosmetic and functional outcomes in this unique population.

BackgroundWolfram syndrome gene 1 (WFS1) accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by sensorineural hearing losses equal to and below 2000 Hz. The current study aimed to contribute to our understanding of the molecular basis of LFSNHL in an affected Taiwanese family.MethodsThe Taiwanese family with LFSNHL was phenotypically characterized using audiologic examination and pedigree analysis. Genetic characterization was performed by direct sequencing of WFS1 and mutation analysis.ResultsPure tone audiometry confirmed that the family members affected with LFSNHL had a bilateral sensorineural hearing loss equal to or below 2000 Hz. The hearing loss threshold of the affected members showed no progression, a characteristic that was consistent with a mutation in the WFS1 gene located in the DFNA6/14/38 locus. Pedigree analysis showed a hereditarily autosomal dominant pattern characterized by a full penetrance. Among several polymorphisms, a missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in members of a Taiwanese family diagnosed with LFSNHL but not in any of the control subjects.ConclusionWe discovered a novel heterozygous missense mutation in exon 8 of WFS1 (i.e., Y669H) which is likely responsible for the LFSNHL phenotype in this particular Taiwanese family.

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