Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features

Enlarged Vestibular Aqueduct in Congenital Non-Syndromic Sensorineural Hearing Loss in Egypt

“…Moreover, there was no correlation between the size of the VA Op and Mp and the audiometric threshold at different frequencies. Many studies [3,11,20,22,32,33] reported similar results. Contrary to these reports, Antonelli et al [34] reported a significant correlation between the VA size and severity of hearing impairment in patients with EVA and cochlear dysplasia.…”

“…The degree of SNHL in patients with EVA has been described by many authors to range from mild to profound and even patients with EVA without any hearing impairment has also been reported [19,20,[28][29][30][31]. In our patients with EVA: 4 ears had moderate SNHL and 2 ears had profound SNHL.…”

“…This is in accordance with the study of Legeais et al [15] who found that there was no statistically significant variability in VA diameter as a function of age. The onset of SNHL as a presentation of EVA may be early after birth to adulthood with the highest frequency in childhood [16][17][18][19][20][21][22]. In the current study, the age of onset of SNHL was 6.67 ± 2.99 years in patients with EVA.…”

“…The EVA syndrome has been reported to be bilateral in 55 to 94% of cases [20,[23][24][25] and is generally reported to be asymmetrical [8,19]. Some authors claimed slight female preponderance [23,24] whereas others reported the inverse [25].…”

Imaging for Sensorineural Hearing Loss

“…Isolated dilated vestibular aqueduct has also been observed and reported by other authors. 9 Large vestibular aqueduct, bilaterally may be a part of a syndrome, such as Pendred syndrome and distal renal tubular acidosis, 13 one needs to look for this possibility in the appropriate setting. Bamiou et al, in their series of patients with sensorineural hearing loss evaluated with HRCT, found that 60% of their patients had isolated dilated vestibular aqueduct.…”