Messina Antonio, Clement Emma, De Bakker Bernadette, Nash Robert, Morana Giovanni, Avula Shivaram, Connor Steve, D'Arco Felice
Paediatric Radiology Department, Our Lady's Children's Hospital, Dublin, Ireland.
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, United Kingdom.
Neuroradiology. 2025 Jun 14. doi: 10.1007/s00234-025-03671-5.
A distinct form of cochlear hypoplasia, characterized by the preservation of the first half of the basal turn with hypoplastic and anteriorly displaced upper turns, was historically associated with branchio-oto-renal (BOR) syndrome, but can also occur in other genetic, syndromic and non-syndromic causes of hearing loss. This study aims to describe this phenotype with relative preservation of the basal turn, particularly its first half, in a significant proportion of cochlear hypoplasia cases due to different causes.
We retrospectively reviewed temporal bone imaging from 125 patients (250 ears) with cochlear malformations from a tertiary pediatric center, focusing on cases where the basal turn was partially or completely preserved. Temporal bone CT and internal auditory meatus MRI were assessed for cochlear morphology and associated anomalies and genetic, clinical and syndromic associations described.
Fifty-eight patients exhibited a preserved basal turn with different degrees of hypoplasia of the upper turns. These cases were grouped into five etiological clusters: branchio-oto-renal (BOR), CHARGE, Walker-Warburg (WWS) syndromes, other genetic cases and likely non-genetic cases (including syndromic conditions without a genetic cause identified such as oculo-auriculo-vertebral spectrum - OAVS). Genetic cases may show bilateral and symmetrical appearances, aberrant facial nerve courses were observed in 30 patients.
Preservation of the first half of the basal turn suggests developmental arrest between 50 and 54 days of gestation, and is common across genetic and non-genetic conditions of cochlear hypoplasia. Frequent facial nerve anomalies may complicate cochlear implantation. Integrating imaging with embryological insights supports the need for refined, developmentally-based classification systems.
一种独特的耳蜗发育不全形式，其特征为基底转的前半部分保留，而上转发育不全且向前移位，在历史上与鳃-耳-肾（BOR）综合征相关，但也可发生于其他导致听力损失的遗传、综合征性和非综合征性病因中。本研究旨在描述在相当比例的由不同病因导致的耳蜗发育不全病例中，基底转尤其是其前半部分相对保留的这种表型。
我们回顾性分析了一家三级儿科中心125例（250耳）患有耳蜗畸形患者的颞骨影像学资料，重点关注基底转部分或完全保留的病例。评估颞骨CT和内耳道MRI的耳蜗形态及相关异常，并描述其遗传、临床和综合征关联。
58例患者表现出基底转保留，上转有不同程度的发育不全。这些病例被分为五个病因组：鳃-耳-肾（BOR）综合征、CHARGE综合征、沃克-沃尔堡（WWS）综合征、其他遗传病例和可能的非遗传病例（包括未确定遗传病因的综合征性疾病，如眼-耳-脊椎谱 - OAVS）。遗传病例可能表现为双侧对称，30例患者观察到面神经走行异常。
基底转前半部分的保留提示妊娠50至54天之间的发育停滞，在耳蜗发育不全的遗传和非遗传情况下均很常见。频繁的面神经异常可能使人工耳蜗植入复杂化。将影像学与胚胎学见解相结合支持了建立基于发育的精细分类系统的必要性。
