Otopathology in CHARGE syndrome
Otopathology in CHARGE syndrome
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DOI：
10.1002/lio2.347
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发表时间：
2020-01-13
影响因子：
1.9
通讯作者：
Quesnel, Alicia M.
中科院分区：
文献类型：
--
作者：
Chen, Jenny X.;Nourmahnad, Anahita;Quesnel, Alicia M.
一名患有Charge综合征的婴儿死后颞骨计算机断层扫描(CT)和组织病理结果显示双侧耳蜗前庭发育不良，包括与人工耳蜗术前相关的耳蜗病理学。CT和组织病理学检查显示双耳上半规管缺失，后半规管严重发育不良，右耳或左耳外侧鳞状细胞发育不良。组织病理学进一步显示，除右侧鳞状细胞癌壶腹部和萎缩的前庭神经上皮细胞外，两侧球囊和椭圆囊均无其他鳞状细胞癌壶腹部。右耳蜗底转伴圆窗未闭，中转畸形(IV型)，内耳道较小，接近正常耳蜗神经孔(Fossette)。组织切片上螺旋神经节神经元(SGN)的定量显示SGN数量减少(年龄正常的35%)，但这只耳朵仍有可能从基于该人群的人工耳蜗术中受益。左侧只有一个底部旋转，圆窗未闭(III型耳蜗肌发育不良)，内耳内径较小，耳蜗神经孔很小。值得注意的是，组织学显示耳蜗中没有SGN，因此，这只耳朵不是一个很好的人工耳蜗植入者。
Postmortem temporal bone computed tomography (CT) and histopathologic findings in an infant with CHARGE syndrome revealed bilateral cochleovestibular hypoplasia, including cochlear pathology relevant to cochlear implant candidacy. Both ears had absence of the superior semicircular canals (SCCs), severely hypoplastic posterior SCCs, and hypoplastic (right ear) or absent (left ear) lateral SCCs seen on CT and histopathology. Histopathology further revealed the absence of all SCC ampullae except the right lateral SCC ampulla and atrophic vestibular neuroepithelium in the saccule and utricle bilaterally. The right cochlea consisted of a basal turn with patent round window, and malformed middle turn (type IV cochlear hypoplasia), with a small internal auditory canal (IAC) but near normal cochlear nerve aperture (fossette). Quantification of spiral ganglion neurons (SGNs) on histologic sections revealed a reduced SGN population (35% of normal for age), but this ear would still have likely achieved benefit from a cochlear implant based on this population. The left cochlea consisted of only a basal turn with patent round window (type III cochlear hypoplasia) with a small IAC and very small cochlear nerve aperture. Notably, histology revealed that there were no SGNs in the cochlea, and therefore, this ear would not have been a good candidate for cochlear implantation.