HRCT and MRI findings in X-linked non-syndromic deafness patients with a POU3F4 mutation

Objective: The aim of this study was to analyze HRCT and MRI findings in patients with X-linked non-syndromic deafness and a POU3f4 mutation.

Methods: HRCT and MRI data of four patients (males, 2-19 years old) with a POU3f4 mutation were collected and a retrospective review was performed. Cochlea, internal auditory canal (IAC), vestibule, semicircular canals, vestibular aqueduct, nerve canals in the IAC fundus, stapes and cochlear nerve were evaluated on 2D images (multi-planner reformation, MPR) and cochlear foramen on 3D images (CT virtual endoscopy, CTVE). Ten cases with normal hearing subjected to CT and MR exams served as controls.

Results: Inner ear malformations were bilateral and symmetrical. Cochlear malformation was shown to consist of as a relatively normal outer coat shape, absence of a cochlear modilous, and a direct intercommunication between the IAC and cochlear inner cavity. The lateral portion of the IAC was dilated. A spiral cochlear inner cavity was observed with CTVE images versus a helical cochlear nerve foramen as seen in controls. The labyrinthine facial nerve canal and superior vestibular nerve canal were enlarged. The Bill's bar was hypertrophic and partially pneumatized. A thickened stapes footplate was present and a fissura ante fenestram was absent in seven ears examined. A column shaped stapes was observed in one ear.

Conclusions: The absence of a cochlear modilous with a dilated lateral IAC and thickened stapes footplate were the remarkable features observed with imaging these in X-linked non-syndromic deafness patients with a POU3F4 mutation. Preoperative recognition of the image features in these patients is important because it precludes stapedectomy and indicates the risks in the surgery of cochlear implantation including CSF gusher and electrode insertion into IAC.