Morimoto A K, Wiggins R H, Hudgins P A, Hedlund G L, Hamilton B, Mukherji S K, Telian S A, Harnsberger H R
Department of Radiology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.
AJNR Am J Neuroradiol. 2006 Sep;27(8):1663-71.
This paper describes the CT findings that characterize the middle and inner ear anomalies in coloboma, heart defects, choanal atresia, mental retardation, genitourinary, and ear anomalies (CHARGE) syndrome. With this information, neuroradiologists will be better prepared to provide clinically relevant information to their referring physicians regarding this rare syndrome.
CT studies from 13 patients were reviewed by 2 neuroradiologists with Certificate of Additional Qualification. Each ear was counted separately for a total of 26 ears. Middle and inner ear anomalies associated with CHARGE syndrome were categorized. Investigational review board approval was obtained.
Twenty of 26 (77%) ears demonstrated cochlear aperture atresia. Four of these ears were evaluated with MR imaging and were found to lack a cochlear nerve. Twenty-one of 26 (81%) cochlea had some form of dysplasia. Six of 26 (23%) round windows were aplastic. Three of 26 (12%) round windows were hypoplastic. Twenty-one of 26 (81%) oval windows were atretic or aplastic. Fifteen of 26 (58%) vestibules were hypoplastic or dysplastic. There were 5 of 26 (19%) enlarged vestibular aqueducts. Twelve of 26 (46%) vestibular aqueducts had an anomalous course. All cases demonstrated absent semicircular canals. Twenty-three of 26 (88%) facial nerve canals had an anomalous course. Four of 26 (15%) tympanic segments were prolapsed. Three of 26 (12%) temporal bones had an anomalous emissary vein referred to as a petrosquamosal sinus. Twenty-one of 26 (81%) middle ear cavities were small. Twenty-three of 26 (93%) ossicles were dysplastic with ankylosis. Three of 26 (12%) internal auditory canals were small.
The CT findings that correlate to the anomalies of CHARGE syndrome affect conductive as well as sensorineural hearing. Stenosis of the aperture for the cochlear nerve aperture on CT is suggestive of hypoplasia or absence of the cochlear nerve, which has been demonstrated in some cases by MR. Absence of the cochlear nerve would be a contraindication to cochlear implantation.
本文描述了眼缺损、心脏缺陷、后鼻孔闭锁、智力发育迟缓、泌尿生殖系统及耳部异常（CHARGE）综合征中中耳和内耳异常的CT表现。掌握这些信息后，神经放射科医生将能更好地为转诊医生提供有关这种罕见综合征的临床相关信息。
2名具有额外资质证书的神经放射科医生对13例患者的CT研究进行了回顾。每只耳朵单独计数，共26只耳朵。对与CHARGE综合征相关的中耳和内耳异常进行了分类。获得了研究审查委员会的批准。
26只耳朵中有20只（77%）显示耳蜗孔闭锁。其中4只耳朵进行了磁共振成像检查，发现没有耳蜗神经。26只耳蜗中有21只（81%）有某种形式的发育异常。26只圆窗中有6只（23%）未发育。26只圆窗中有3只（12%）发育不全。26只椭圆窗中有21只（81%）闭锁或未发育。26只前庭中有15只（58%）发育不全或发育异常。26只中有5只（19%）前庭导水管扩大。26只前庭导水管中有12只（46%）走行异常。所有病例均显示半规管缺如。26只面神经管中有23只（88%）走行异常。26只鼓室段中有4只（15%）脱垂。26只颞骨中有3只（12%）有异常的导静脉，称为岩鳞窦。26只中耳腔中有21只（81%）较小。26只听小骨中有23只（93%）发育异常并伴有强直。26只内耳道中有3只（12%）较小。
与CHARGE综合征异常相关的CT表现影响传导性和感音神经性听力。CT上耳蜗神经孔狭窄提示耳蜗神经发育不全或缺失，在某些病例中磁共振成像已证实这一点。耳蜗神经缺失将是人工耳蜗植入的禁忌证。
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