Ihtijarevic Berina, Janssens de Varebeke Sebastien, Mertens Griet, Dekeyzer Sven, Van de Heyning Paul, Van Rompaey Vincent
Department of Otorhinolaryngology and Head and Neck Surgery, Antwerp University Hospital, Antwerp, Belgium.
Department of Otorhinolaryngology and Head and Neck Surgery, Jessa Hospital, Hasselt, Belgium.
Front Neurol. 2020 Jan 10;10:1341. doi: 10.3389/fneur.2019.01341. eCollection 2019.
Radiologic abnormalities on computed tomography (CT), including narrowing or sclerosis of the semicircular canals (SCCs), and T2-weighted magnetic resonance imaging (MRI), including signal loss in the SCC, have been reported as potential biomarkers in patients with P51S mutations in the gene (i.e., DFNA9). The aim of our study was to correlate caloric responses through electronystagmography (ENG) data with imaging results in DFNA9 patients. A retrospective study was performed in 45 patients; therefore, 90 ears with P51S mutations in the gene were tested. Caloric responses and CT and MRI data were analyzed from June 2003 until May 2014. More than half of patients (54%) were candidates for cochlear implantation. In our population, 91% of tested ears had sclerotic lesions and/or narrowing in one or more SCCs on CT scan. All tested ears had narrowing or signal loss in at least one SCC on T2-weighted MRI. The lateral SCC was affected in 87% on CT scan and 92% on MRI. However, in 83% of tested ears, all three SCCs were affected on MRI. Furthermore, in 77% of tested ears, caloric responses were reduced bilaterally, while 11.5% showed unilateral hypofunction and the other 11.5% had normal caloric responses. CT abnormalities correlated with hypofunction of caloric responses. This statistically significant difference was present if abnormalities were observed in at least one of the SCCs as well as in ipsilateral lateral SCC function loss. MRI abnormalities in at least one of the SCCs correlated with ENG hypofunction, but there was no direct correlation between lateral SCC abnormalities on MRI and caloric responses of the investigated lateral canal. Our retrospective analysis confirms the presence of CT and MRI abnormalities in DFNA9 patients with the P51S mutation in the gene. A correlation between these radiologic features and vestibular function (tested by means of caloric response) was found in this population.
计算机断层扫描（CT）上的放射学异常，包括半规管（SCCs）变窄或硬化，以及T2加权磁共振成像（MRI）上的异常，包括SCC信号缺失，已被报道为该基因（即DFNA9）发生P51S突变患者的潜在生物标志物。我们研究的目的是通过眼震电图（ENG）数据将冷热试验反应与DFNA9患者的影像学结果相关联。对45例患者进行了一项回顾性研究；因此，对90只携带该基因突变的P51S耳朵进行了检测。对2003年6月至2014年5月期间的冷热试验反应以及CT和MRI数据进行了分析。超过一半的患者（54%）是人工耳蜗植入的候选者。在我们的研究人群中，91%的受试耳朵在CT扫描中出现一个或多个SCC的硬化病变和/或变窄。所有受试耳朵在T2加权MRI上至少有一个SCC变窄或信号缺失。在CT扫描中，外侧半规管受影响的比例为87%，在MRI上为92%。然而，在83%的受试耳朵中，MRI显示所有三个半规管均受影响。此外，在77%的受试耳朵中，双侧冷热试验反应降低，而11.5%表现为单侧功能减退，另外11.5%的冷热试验反应正常。CT异常与冷热试验反应功能减退相关。如果在至少一个半规管以及同侧外侧半规管功能丧失中观察到异常，则存在这种统计学上的显著差异。至少一个半规管的MRI异常与ENG功能减退相关，但MRI上外侧半规管异常与所研究外侧半规管的冷热试验反应之间没有直接相关性。我们的回顾性分析证实了携带该基因P51S突变的DFNA9患者存在CT和MRI异常。在这一人群中发现了这些放射学特征与前庭功能（通过冷热试验反应检测）之间的相关性。
