双侧先天性半规管畸形伴听力损失1例

J. Costa, M. Coutinho, T. Soares, C. Sousa
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引用次数: 0

摘要

本观察性研究的主要目的是描述一种特征不明显的内耳畸形,称为双侧先天性半规管畸形;确定半规管畸形的程度和模式以及是否存在或不存在发育良好的耳蜗可以预测先天性听力损失的听力学结果、类型和严重程度;并调查其与已知的听力损失综合征形式的关系。本文回顾了8例有先天性半规管畸形的听力损失病例。收集所有患者的临床病史、体格检查、计算机断层扫描研究和系列听力图。分析的特征包括其他综合征-特征性表型畸形、听力学配置、听力损失的严重程度和类型、听力学康复类型以及除前庭系统外相关内耳异常的存在。在纳入研究的8例病例中,有6例患者有公认的综合征/染色体异常。所有病例的听力损失均为中度至重度。所有患者均有双侧半规管畸形,通常两侧解剖形态相同。8例患者中,6例耳蜗发育正常;鼓膜、外耳道畸形1例;3例患者听骨链改变;多数病例前庭及前庭导水管正常;2例发现卵圆窗发育异常及发育不全。目前的研究表明,听力损失的严重程度和类型与影像学异常之间的相关性很难确定。听力损失与半规管发育不良更可能是由于异常膜迷路的发展,这是不能通过计算机断层扫描放射检测。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Bilateral congenital semicircular canal malformation and hearing loss - case report
The main aims of this observational study were to describe a poorly characterized malformation of the inner ear termed bilateral congenital semicircular canal malformation; determine if the degree and pattern of semicircular canal dysmorphology and the presence or absence of a well-formed cochlea predict audiological outcomes, type, and severity of congenital hearing loss; and investigate its relationship with known syndromic forms of hearing loss. Review of eight cases of hearing loss with radiographic evidence of congenital semicircular canal malformation was performed. Information was collected on clinical history, physical examination, computed tomography study and serial audiograms for all patients. Analyzed features included other syndrome-characteristic phenotypic dysmorphologies, audiometric configuration, severity and type of hearing loss, type of audiological rehabilitation, and presence of associated inner ear abnormalities besides those in the vestibular system. Among the eight cases included in the study, six patients had recognized syndromes/chromosomal abnormalities. Hearing loss was moderate to profound in all cases. All patients had bilateral semicircular canal deformities, with usually identical anatomical pattern on each side. Of the eight cases, six had normal cochlear development; malformations in the tympanic membrane and external auditory canal were only found in one; changes in ossicular chain were found in three patients; vestibules and vestibular aqueduct were normal in most cases; and abnormalities of oval window development and hypoplasia were found in two cases. The present study shows that a correlation between the severity and type of hearing loss and radiographic abnormalities is difficult to establish. Hearing loss associated with semicircular canal dysplasia is more likely due to anomalous membranous labyrinth development, which is not radiologically detectable by computerized tomography scan.
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