Recent studies applying molecular testing for SLC26A4 mutations and radiological imaging of temporal bones have demonstrated that enlargement of the vestibular aqueduct
can be recognized as the most penetrant feature of Pendred syndrome (33).
Genetic basis of hearing loss associated with enlarged vestibular aqueducts
Common clinical features of children with enlarged vestibular aqueduct
and Mondini dysplasia.
Temporal bone CT revealed a 2.2 mm dilatation of the left vestibular aqueduct
. A small (diameter: 2.6 mm) area of altered signal intensity was evident in the left vestibule (Figure 2).
The morphology of the cochlea, vestibule, semicircular canals, vestibular aqueduct
, and internal auditory canal along with vestibulocochlear and facial nerve is described.
(9) The hearing loss associated with an enlarged vestibular aqueduct
may be the presenting or only clinical feature of Pendred syndrome.
Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct
. J Endocrinol Invest 27:430-435.
Pneumolabyrinth after cochlear implantation in large vestibular aqueduct
This anomaly was originally described by Carlo Mondini and together with a minimally dilated vestibule and an enlarged vestibular aqueduct
(EVA) (Figure 7c) constitute the triad of the Mondini deformity.
The most common CT finding in pediatric sensorineural hearing loss is an enlarged vestibular aqueduct
. MRI allows for better soft tissue/ nerve definition but usually requires sedation in children.
(5) Abnormalities in cochlear height, horizontal semicircular canal bony island width, and vestibular aqueduct
width have correlated well with the presence of hearing loss.
Anatomic variations may include the distortion of the membranous labyrinth in Meniere disease, an enlarged vestibular aqueduct
, and even dislodged otoliths; in the latter case, the fluid dynamics model complements current theories of BPPV.