Imaging findings of hearing loss caused by a mutation of POU 3F4
ZHANGZong-jian
XUGuo-hui
LIXiao-tao
WANGXiao-long
XIELi
TANHong-yan
ZENGZhi-ping
YA NG Xiao-ying
Abstract：Objective To investigate the high resolution temporal bone CT and MRI features of hearing loss caused by a POU3F4 mutation so as to improve the diagnosis of this disease .Methods We retrospectively analyzed on imaging data of five cases (10 ears) diagnosed hearing loss caused by POU3F4 mutationsvia ,with literature review .Results The bilateral internal auditory canal bottom for five cases (10 ears) were spherically enlarged ,inferior wall was significantly enlarged ;the internal auditory canal bottom and cochlea bone spacer for 5 cases (10 ears) were missing ;the cochlear nerve bony ca-nal in 4 cases (7 ears) enlarged ;5 cases (10 ears) modiolus missing with the higher density shadow for CT axial normal cochlea center was disappeared ;vestibular aqueduct in 2 cases (2 ears) enlarged;semicircular canal in 2 cases (4 ears) was dysplasia;Mondini in 1 case (2 ears) was deformity ;vestibular in 1 case (2 ears) was expanded;jugular fossa in 4 cases (4 ears) were high .Conclusion Hearing-loss caused by PoU3F4 mutation has characteristic imaging findings .Combined with clinical hearing examination and genetic characteristics ,imaging tool is valuable on guiding surgery and diagnosis of the disease .
Keywords：GenesHearing lossTomographyX-ray computedMagnetic resonance imaging
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 906-908,912 )