HRCT and MRI findings in X-linked non-syndromic deafness patients with a POU3F4 mutation
HRCT and MRI findings in X-linked non-syndromic deafness patients with a POU3F4 mutation
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DOI：
10.1016/j.ijporl.2014.08.013
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发表时间：
2014-10-01
影响因子：
1.5
通讯作者：
Zhao, Bin
中科院分区：
文献类型：
--
作者：
Gong, Wu-Xian;Gong, Ruo-Zhen;Zhao, Bin
目的：方法：回顾性分析4例POU 3f 4基因突变的X-连锁非综合征性耳聋患者的HRCT和MRI表现，分析POU 3f 4基因突变的X-连锁非综合征性耳聋的HRCT和MRI表现。对耳蜗、内耳道、前庭、半规管、前庭导水管、内耳道底神经管、镫骨和耳蜗神经进行2D图像（多平面重组，MPR）和3D图像（CT仿真内窥镜，CTVE）。结果：内耳畸形为双侧对称性畸形。耳蜗畸形表现为外被毛形态相对正常，耳蜗蜗轴缺失，内听道与耳蜗内腔直接相通。IAC的外侧部分扩张。螺旋耳蜗内腔观察与CTVE图像与螺旋耳蜗神经孔所看到的对照组。面神经管和上级前庭神经管扩大。比尔的酒吧肥大，部分瘫痪。在检查的7只耳中，存在增厚的镫骨底板和fistericante fenestram。一个圆柱形的镫骨观察到在一只耳朵。结论：没有耳蜗modilous与扩大的侧IAC和增厚的镫骨足板显着的特点，观察到这些X连锁非综合征性耳聋患者POU 3F 4突变的成像。术前识别这些患者的影像学特征非常重要，因为它排除了镫骨切除术，并提示了人工耳蜗植入手术的风险，包括CSF涌出和电极插入IAC。(C)2014爱思唯尔爱尔兰有限公司版权所有。
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. (C) 2014 Elsevier Ireland Ltd. All rights reserved.