POU3F4基因突变致耳聋的HRCT和MRI表现

目的：探讨POU3F4基因突变致耳聋患儿的颞骨高分辨率CT（high resolution CT ，HRCT）及MRI表现特征，提高对该病的认识。方法结合文献回顾性分析5例（10耳）经临床诊断POU3F4基因突变致耳聋患儿的影像学资料。结果5例（10耳）双侧内听道底“球茎状”扩大，以下壁扩大明显；5例（10耳）内听道底与耳蜗底圈骨性间隔缺失；4例（7耳）蜗神经孔扩大；5例（10耳）蜗轴缺失；2例（2耳）前庭水管扩大；2例（4耳）半规管发育异常；1例（2耳）Mondini畸形；1例（2耳）前庭扩大；4例（4耳）颈静脉窝高位。结论 POU3F4基因突变致耳聋的影像学表现具有特征性，对本病诊断及指导手术有重要价值。

Imaging findings of hearing loss caused by a mutation of POU 3F4

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 canal 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 .