Significance of unilateral enlarged vestibular aqueduct.

[pendred syndrome]

To describe the clinical phenotype of pediatric patients with unilateral enlarged vestibular aqueduct (EVA ) and then to compare the findings to two clinically related phenotypes : bilateral EVA and unilateral hearing loss without EVA . In view of clinical observations and previously published data , we hypothesized that patients with unilateral EVA would have a much higher rate of contralateral hearing loss than patients with unilateral hearing loss without EVA .Retrospective cohort study .Patients with unilateral or bilateral EVA were identified from a database of children with sensorineural hearing loss who were seen at a tertiary care institution between 1998 and 2010 . Those with imaging findings consistent with well-established EVA criteria were identified . A comparative group of patients with unilateral hearing loss without EVA was also identified . The following specific outcome measurements were analyzed : 1 ) hearing loss phenotype , 2 ) laterality of EVA and hearing loss , 3 ) midpoint and operculum vestibular aqueduct measurements , and 4 ) genetic test results .Of the 144 patients who met our inclusion criteria , 74 (51 .4 %) had unilateral EVA . There was a strong correlation between the presence of hearing loss and ears with EVA . Fifty -five percent of patients with unilateral EVA had hearing loss in the contralateral ear ; in most of these patients , the hearing loss was bilateral . Contralateral hearing loss occurred in only 6 % of patients with unilateral hearing loss without EVA . No significant differences were found in temporal bone measurements between the ears of patients with unilateral EVA and ipsilateral hearing loss and all ears with EVA and normal hearing (P = .4 ). There was no difference in the rate of hearing loss progression in patients with unilateral EVA between ears with or without EVA (16 of 48 [33 .3 %] vs . 9 of 27 [33 .3 %], respectively ; P = 1 .0 ). There was no difference in the rate of hearing loss progression in patients with bilateral and unilateral EVA (41 of 89 ears [46 .1 %] vs . 25 of 75 ears [33 .3 %], respectively ; P = .1 ); however , both EVA groups had higher rates of progression compared to patients with unilateral hearing loss without EVA . There was a strong correlation between the presence of hearing loss at 250 Hz and the risk of more severe hearing loss and progressive hearing loss . Patients with bilateral EVA and SLC 26 A 4 mutations had a higher rate of progression than patients who had no mutations (P = .02 ). No patients with unilateral EVA had Pendred syndrome .Children with unilateral EVA have a significant risk of hearing loss progression . Hearing loss in the ear contralateral to the EVA is common , suggesting that unilateral EVA is a bilateral process despite an initial unilateral imaging finding . In contrast to bilateral EVA , unilateral EVA is not associated with Pendred syndrome and may have a different etiology . Temporal bone measurements , hearing loss severity , and hearing loss at 250 Hz were all correlated with the risk of progressive hearing loss . Clinicians should become knowledgeable regarding the implications of this disease process so that families can be counseled appropriately .

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