The clinical picture of large vestibular aqueduct syndrome

Large vestibular aqueduct syndrome (LVAS) is one of the most common congenital inner ear malformations. LVAS is generally diagnosed via high-resolution computed tomography (CT) as a vestibular aqueduct midpoint greater than 1.5 mm; however, other criteria have recently been proposed. LVAS can be found in isolation as well as in conjunction with both syndromic and nonsyndromic hereditary hearing loss. The typical presentation of LVAS is that of down-sloping hearing loss, oftentimes accompanied by a conductive component, with progressions in hearing loss occurring either spontaneously or paired with a precipitating event. CT and traditional audiometry including bone conduction testing, tympanometry, and acoustic reflex testing should be considered part of a traditional workup for LVAS. Other clinical tools such as magnetic resonance imaging and vestibular function testing, specifically vestibular evoked myogenic potential (VEMP), also have proven useful in identifying this population. This review presents a clinical case of bilateral LVAS and reviews the common clinical presentation of LVAS including diagnostic guidelines, audiometric configuration, vestibular function testing outcomes, and treatment options.