Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond St. London, London, WC1N3JH, UK.
Department of Radiology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Neuroradiology. 2023 Apr;65(4):819-834. doi: 10.1007/s00234-023-03118-9. Epub 2023 Jan 30.
We reviewed the genotypes and the imaging appearances of cochleae in CHARGE patients from two large tertiary centres and analysed the observed cochlear anomalies, providing detailed anatomical description and a grading system. The goal was to gain insight into the spectrum of cochlear anomalies in CHARGE syndrome, and thus, in the role of the CHD7 gene in otic vesicle development.
We retrospectively reviewed CT and/or MR imaging of CHARGE patients referred to our institutions between 2005 and 2022. Cochlear morphology was analysed and, when abnormal, divided into 3 groups in order of progressive severity. Other radiological findings in the temporal bone were also recorded. Comparison with the existing classification system of cochlear malformation was also attempted.
Cochlear morphology in our CHARGE cohort ranged from normal to extreme hypoplasia. The most common phenotype was cochlear hypoplasia in which the basal turn was relatively preserved, and the upper turns were underdeveloped. All patients in the cohort had absent or markedly hypoplastic semicircular canals and small, misshapen vestibules. Aside from a stenotic cochlear aperture (fossette) being associated with a hypoplastic or absent cochlear nerve, there was no consistent relationship between cochlear nerve status (normal, hypoplasia, or aplasia) and cochlear morphology.
Cochlear morphology in CHARGE syndrome is variable. Whenever the cochlea was abnormal, it was almost invariably hypoplastic. This may shed light on the role of CHD7 in cochlear development. Accurate morphological description of the cochlea contributes to proper clinical diagnosis and is important for planning surgical treatment options.
我们回顾了两个大型三级中心的 CHARGE 患者的基因型和耳蜗影像学表现，并分析了观察到的耳蜗异常，提供了详细的解剖描述和分级系统。目的是深入了解 CHARGE 综合征中耳蜗异常的范围，从而了解 CHD7 基因在耳泡发育中的作用。
我们回顾性分析了 2005 年至 2022 年转诊至我们机构的 CHARGE 患者的 CT 和/或 MRI。分析耳蜗形态，当异常时，按严重程度递增分为 3 组。还记录了颞骨的其他放射学发现。并尝试与现有的耳蜗畸形分类系统进行比较。
我们的 CHARGE 队列中的耳蜗形态从正常到极度发育不全。最常见的表型是耳蜗发育不全，其中基底圈相对保留，上圈发育不全。该队列中的所有患者均存在缺失或明显发育不全的半规管和小而畸形的前庭。除了狭窄的耳蜗口（小窝）与发育不全或缺失的耳蜗神经有关外，耳蜗神经状态（正常、发育不全或发育不全）与耳蜗形态之间没有一致的关系。
CHARGE 综合征中的耳蜗形态是可变的。只要耳蜗异常，几乎总是发育不全。这可能阐明了 CHD7 在耳蜗发育中的作用。对耳蜗的准确形态描述有助于正确的临床诊断，并对规划手术治疗方案很重要。
