Enlarged vestibular aqueduct as a cause of postneonatal deafness

Abstract

Introduction

The enlarged vestibular aqueduct (EVA) is the most frequent malformation of the inner ear associated with sensorineural hearing loss (5–15%). It exists when the diameter in imaging tests is greater than 1.5 mm at its midpoint. The association between hearing loss and EVA has been described in a syndromic and non-syndromic manner. It can appear as a familial or isolated form and the audiological profile is highly variable. The gene responsible for sensorineural hearing loss associated with EVA is located in the same region described for Pendred syndrome, where the SCL26A4 gene is located.

Objective

To describe a series of children diagnosed with EVA in order to study their clinical and audiological characteristics, as well as the associated genetic and vestibular alterations.

Method

Retrospective study of data collection of children diagnosed with EVA, from April 2014 to February 2023.

Results

Of the 17 cases, 12 were male and 5 were female. 5 of them were unilateral and 12 bilateral. In 5 cases, a cranial traumatism triggered the hearing loss. Genetic alterations were detected in 3 cases: 2 mutations in the SCL26A4 gene and 1 mutation in the MCT1 gene. 13 patients (76.5%) were rehabilitated with hearing aids and 9 of them required cochlear implantation.

Discussion

The clinical importance of AVD lies in the fact that it is a frequent finding in the context of postneonatal hearing loss. It is convenient to have a high suspicion to diagnose it with imaging tests, to monitor its evolution, and to rehabilitate early.