POU3F4基因突变所致X连锁的非综合征型耳聋患者影像学分析

发布时间：2018-05-16 21:44

本文选题：高分辨率CT + 核磁共振　；参考：《山东大学》2014年博士论文

【摘要】：第一部分：POU3F4基因突变所致X连锁的遗传性非综合征型耳聋患者内耳畸形影像学分析 1.研究目的：用MPR后处理技术在最佳层面显示内耳结构和听神经,CT仿真内镜技术显示蜗神经孔,VRT技术显示内耳立体形态,与正常组对照,回顾性分析POU3F4基因突变所致的X连锁的非综合征型遗传性耳聋患者内耳发育畸形影像学表现及特征。 2.材料与方法：收集自2004年-2014年收集6例经基因诊断确诊的POU3F4基因突变所致的X连锁的非综合征型遗传性耳聋患者HRCT和MRI影像学资料,男性,年龄2-19岁,其中2例来自同一家庭,另4例分别来自不同家庭。电测听结果：3例重度感音神经性耳聋,3例混合性耳聋。同时收集3例致病基因携带者影像资料,分别来自病例组三个不同家庭,均为女性,年龄28岁-52岁,2例听力正常,1例轻度混合性听力减低。另收集30例因眩晕、外伤就诊患者HRCT、MRI扫描数据作为对照组,男18例,女12例,年龄2岁-46岁所有患者听力正常,均否认中内耳疾病史。用MPR技术重组耳蜗、内听道、半规管等相关结构,用CTVE技术显示蜗神经孔,VRT技术显示内耳立体形态,与正常组比较,分析病例组和致病基因携带组患者内耳形态学变化。 3.结果： 3.1病例组内耳结构形态学异常主要有：病例组6例病人所见内耳畸形在同一病例均为双侧对称性。 (1)6例(12耳)均存在耳蜗发育异常,耳蜗畸形形态学表现相似,HRCT和MRI表现为耳蜗外壳相对正常,略呈葫芦形,耳蜗各转均已发育,底转/中转和中转/顶转之间骨性分隔存在；耳蜗蜗轴及蜗螺旋板缺如,被液体密度/信号影取代,蜗管内腔开放,与耳蜗内腔相通；蜗神经管增宽；耳蜗与内听道直接相通,无骨性或软组织分隔。 (2)6例(12耳)双侧内听道外侧端对称性扩张,中段及内侧端无扩张。 (3)6例(12耳)面神经管迷路段和水平段扩张,前庭上神经管扩张,两者之间Bill’s嵴肥大、部分气化；单孔神经管均开口于内听道近端,其中1例(2耳)单孔神经管扩张；前庭下神经管未见扩张。 (4)6例(12耳)上、水平及后半规管外形正常,其中3例(6耳)水平半规管和后半规管扩张,水平半规管内骨岛变小；1例(2耳)后半规管下壁骨质不连续。 (5)2例病例(4耳)前庭导水管起始段扩张,内淋巴囊无扩张；余4例患者前庭导水管形态正常。 (6)2例病例(4耳)前庭内上缘见小囊状突起,并向上突入上半规管两脚之间。 (7)6例(12耳)蜗神经孔CTVE成像可见螺旋形耳蜗内腔,而非正常组螺旋形蜗神经孔列。Bill's嵴肥大,上前庭神经孔与面神经孔距离增大。 (8)6例(12耳)蜗神经均存在,由内听道直接进入耳蜗内腔。 3.2致病基因携带者内耳结构形态学异常 3例(6耳)致病基因携带者仅见内听道外侧端扩张,其中1例(2耳)伴有内听道底面神经管和前庭上神经管扩张(图21)；耳蜗、前庭、半规管、前庭导水管均未见异常形态学改变。 4.结论 (1)6例不同POU3F4基因突变位点耳聋患者具有共同的影像学表现,包括双侧对称性耳蜗发育畸形(蜗轴缺如,外形大致正常,与内听道直接交通)、内听道外侧端扩张、面神经迷路段和前庭上神经管扩张,为本组POU3F4基因突变所致X连锁的非综合征型耳聋患者典型的影像学特征； (2)本组部分患者可合并有前庭畸形,前庭导水管起始部扩大,单孔神经管扩大及水平、后半规管扩大； (3)致病基因携带者表现为内听道外侧端扩张,部分病例可合并面神经管和前庭上神经管的扩张。第二部分：POU3F4基因异常所致X连锁的遗传性非综合征型耳聋患者镫骨HRCT评价 1.研究目的：采用多层螺旋CT MPR技术重组镫骨结构同层显示图像,与正常组对照,对POU3F4基因异常所致X连锁的遗传性非综合征型耳聋患者及致病基因携带者镫骨底板、镫骨形态及镫骨前间隙进行评价。 2.材料与方法：收集自2004年-2014年收集6例POU3F4基因异常所致的X连锁的非综合征型遗传性耳聋患者HRCT影像学资料,男性,年龄2-19岁,其中2例来自同一家庭,另4例分别来自不同家庭。电测听结果：3例重度感音神经性耳聋,3例混合性耳聋。3例致病基因携带者影像资料也被收集,分别来自病例组三个不同家庭,均为女性,年龄28岁-52岁,2例听力正常,1例轻度混合性听力减低。另收集30例因眩晕、外伤就诊患者HRCT扫描数据作为对照组,男18例,女12例,年龄2岁-46岁所有患者听力正常,均否认中内耳疾病史。用MPR技术重组镫骨结构同层显示图像,与正常组比较,分析各组镫骨形态学改变,同时分析各组镫骨底板厚度及镫骨前间隙显示率有无差异。所有统计学处理均在SPSS17.0软件中完成。 3.结果： (1)病例组与正常组镫骨底板厚度和镫骨前间隙显示率存在差异； (2)致病基因携带组与正常组镫骨底板厚度和镫骨前间隙显示率无明显差异； (3)病例组镫骨形态学改变主要有5例(9耳)镫骨底板增厚和镫骨前间隙消失,其中1例(1耳)镫骨前弓发育不全,1例(1耳)镫骨后弓发育不全,1例(1耳)镫骨前弓发育不良,2例(耳)柱状镫骨；1例(2耳)双侧镫骨底板瘘。致病基因携带组3例(6耳)镫骨形态学无明显异常。 4.结论 (1) POU3F4基因突变所致X连锁的非综合征型耳聋患者镫骨底板厚于正常人； (2) POU3F4基因突变所致X连锁的非综合征型耳聋患者镫骨前间隙显示率明显低于正常人； (3) POU3F4基因突变所致X连锁的非综合征型耳聋患者镫骨底板具有典型影像学特征,包括镫骨底板增厚和镫骨前间隙消失,部分病例可合并镫骨前后弓发育不良、柱状镫骨及镫骨底板瘘；本组致病基因携带者镫骨形态无异常发现。
[Abstract]:Part one: imaging analysis of inner ear malformation of X linked hereditary nonsyndromic hearing loss caused by POU3F4 gene mutation
1. the purpose of the study:
MPR post-processing technique was used to display the inner ear structure and auditory nerve at the best level. The CT simulation endoscopy showed the cochlear nerve hole, and the VRT technique showed the three-dimensional shape of the inner ear. Compared with the normal group, the imaging findings and characteristics of the malformation of the inner ear development of the non syndromic hereditary deafness induced by the X linked POU3F4 gene mutation were analyzed retrospectively.
2. materials and methods:
The HRCT and MRI imaging data of 6 non syndromic hereditary deafness patients were collected from 6 cases of POU3F4 gene mutation diagnosed by gene diagnosis in 2004. Male, age 2-19 years old, 2 of them from the same family and 4 from different families. Electrical audiometry results were found in 3 cases of severe sensorineural deafness and 3 mixed cases. At the same time, 3 patients were collected from three different families, all of which were female, 28 years old -52 years old, 2 cases with normal hearing and 1 mild mixed hearing loss, and 30 cases of vertigo and trauma patients were collected as the control group, 18 men, 12 women, and all -46 years old at the age of 2, all -46 years old. MPR technique was used to reconstruct the cochlea, the inner auditory canal, the semicircular canal and other related structures, and the CTVE technique was used to display the cochlear nerve foramen. The VRT technique was used to display the three-dimensional shape of the inner ear, and the morphological changes of the inner ear of the patients and the patients with the disease gene were compared with the normal group.
3. results:
3.1 the morphological abnormality of inner ear structure in case group was mainly:
The inner ear malformations seen in 6 patients in the case group were bilateral symmetry in the same case.
(1) 6 cases (12 ears) had cochlear dysplasia, and cochlear malformation was similar in morphology. HRCT and MRI showed that the cochlear shell was relatively normal, slightly gourd, the cochlea was developed, the bottom / transfer and the transfer / top rotation existed between the cochlea, the cochlear and cochlear spiral plates were absent, and the liquid density / signal shadow was replaced and the inner cavity of the cochlear tube opened. It is connected with the inner cavity of the cochlea; the cochlear canal is widened; the cochlea is directly interconnected with the internal auditory canal without any bony or soft tissue separation.
(2) 6 cases (12 ears) had symmetrical expansion on the lateral side of the inner auditory canal and no expansion in the middle and medial side.
(3) the dilation of the labyrinth and horizontal segments of the facial nerve canal in 6 cases (12 ears), the dilatation of the superior vestibular nerve canal, the Bill 's ridge hypertrophy and partial gasification, and the opening of the single hole nerve tube to the proximal end of the inner auditory canal, of which 1 cases (2 ears) were dilated by the single hole nerve canal, and no dilation was found in the vestibular canal.
(4) in 6 cases (12 ears), the horizontal and posterior semicircular canals were normal, of which 3 cases (6 ears) were dilated in the horizontal semicircular canal and posterior semicircular canal, and the inner bone island in the horizontal semicircular canal became smaller, and the inferior wall of the posterior semicircular canal was discontinuous in the posterior wall of the 1 cases (2 ears).
(5) in 2 cases (4 ears), the vestibular aqueduct began to expand, and the endolymphatic sac did not expand. In 4 cases, the vestibular aqueduct was normal.
(6) in 2 cases (4 ears), small vesicular protuberances were seen in the upper part of the vestibule, and upward to the upper semicircular canal between the feet.
(7) 6 cases (12 ears) of the cochlear cochlear cavity were seen in the CTVE of the cochlear cochlea, but not in the normal group of spiral cochlear.Bill's, and the distance between the upper vestibular and facial nerve holes increased.
(8) in 6 cases (12 ears), the cochlear nerve was present and entered the cochlea cavity directly from the internal auditory canal.
3.2 the inner ear structure is abnormal in the carriers of disease causing genes.
In 3 cases (6 ears), only 1 cases (2 ears) were accompanied by the dilatation of the inner auditory canal and the superior vestibular canal (Figure 21). There were no abnormal morphological changes in the cochlea, the vestibule, the semicircular canal and the vestibular aqueduct.
4. conclusion
(1) 6 cases of deafness with different POU3F4 gene mutation sites have common imaging features, including bilateral symmetric cochlear development (abnormal cochlear axis, normal shape, direct traffic with the inner auditory), external lateral dilatation of the inner auditory canal, facial nerve labyrinth and vestibular canal dilation, which are the non synthesis of X linked POU3F4 gene mutations in this group. Typical imaging features of patients with syndromic deafness.
(2) some patients may have vestibular deformities, enlargement of the vestibular aqueduct, enlargement of the single canal, and expansion of the posterior semicircular canal.
(3) the carriers of the pathogenic gene showed expansion of the lateral side of the inner auditory canal, and some cases could be expanded with facial nerve canal and vestibular nerve canal.
The second part: stapes HRCT evaluation of X linked hereditary nonsyndromic hearing loss caused by POU3F4 gene abnormality.
1. the purpose of the study:
Multislice spiral CT MPR technique was used to reconstruct the stapes structure in the same layer. Compared with the normal group, the stapes floor, the stapes shape and the stapes gap of the X linked genetic nonsyndromic deafness patients and the carriers of the POU3F4 gene were evaluated.
2. materials and methods:
The HRCT imaging data of X linked non syndromic deafness patients were collected from 6 cases of POU3F4 gene abnormalities in -2014 2004. Men were 2-19 years old, 2 of them were from the same family and 4 from different families. 3 cases of severe sensorineural deafness and 3.3 cases of mixed deafness were carried out. The band image data were also collected from three different families of the case group, all of which were female, age 28 -52 years, 2 cases of normal hearing and 1 mild mixed hearing loss, and 30 cases of vertigo, HRCT scan data were collected as the control group, 18 men, 12 women, and 2 years old -46 years old, all denied middle hearing. MPR technique was used to reconstruct the stapes structure and the image of the same layer. Compared with the normal group, the morphological changes of stapes were analyzed. At the same time, there was no difference in the thickness of the stapes floor and the display rate of the stapes gap in each group. All the statistical treatments were completed in the SPSS17.0 software.
3. results:
(1) there were differences in the thickness of stapes floor and the stapes anterior space between case group and normal group.
(2) there was no significant difference in the thickness of the stapes floor and the stapes space between the pathogenic gene carrier group and the normal group.
(3) the morphological changes of stapes in the case group were mainly 5 cases (9 ears) thickening of the stapes floor and disappearance of the anterior stapes space, of which 1 cases (1 ears) had dysplasia of the stapes anterior arch, 1 (1 ears) stapapapapstal arch dysplasia, 1 (1 ears) dysplasia of the stapes anterior arch, 2 cases (ears) columnar stapes, 1 (2) bilateral stapes floor fistula. Pathogenic gene carrying group 3 cases (6 ears) stapes There was no obvious abnormality in morphology.
4. conclusion
(1) the stapes floor of X linked non syndromic hearing loss caused by POU3F4 mutation is thicker than that of normal persons.
(2) the rate of stapes anterior space in X linked non syndromic hearing loss caused by POU3F4 mutation was significantly lower than that in normal subjects.
(3) the stapes floor of the X linked non syndromic deafness patients with POU3F4 gene mutation has typical imaging features, including the thickening of the stapes floor and the disappearance of the anterior stapes space. Some cases may be associated with the dysplasia of the stapes, the stapes and the stapes floor fistula, and the stapes form in this group has no abnormal discovery of the stapes.
【学位授予单位】：山东大学
【学位级别】：博士
【学位授予年份】：2014
【分类号】：R764.43;R816.96

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