Abstract
The enlarged vestibular aqueduct syndrome is characterized by the early onset of sensorineural hearing loss and detection of an enlarged endolymphatic sac and duct on temporal bone imaging. Progressive loss and hearing fluctuations may occur, and minor head trauma has been associated with further auditory decline. Exciting new developments concerning the hereditary and genetic basis of enlarged vestibular aqueduct syndrome have occurred in the past year. Pedigree analysis has revealed that many familial cases occur in an autosomal recessive fashion. Furthermore, mutations in the Pendred gene (PDS) have been identified in patients with enlarged vestibular aqueduct syndrome. Treatment has focused on the detection of progressive hearing loss, amplification, and avoidance of head trauma. Recent evidence has revealed that endolymphatic sac surgery does not modify the progressive loss in these patients and may have a detrimental effect on hearing. Additionally, recent data have shown that cochlear implantation is a safe and effective option for patients with enlarged vestibular aqueduct syndrome who have bilateral profound losses.
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