一例Arnold-Chiari综合征、严重内耳畸形及耳蜗神经发育不良患儿的耳蜗植入：病例报告

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中文摘要

背景： Arnold-Chiari综合征是后颅窝的先天性畸形，与神经及耳神经学异常相关，包括不同程度听力损失。对于复杂中枢神经系统畸形患者，耳蜗植入仍因听觉结局不确定而具有挑战性。本研究旨在评估一例Arnold-Chiari综合征合并严重双侧内耳畸形患儿耳蜗植入的可行性和早期结局。病例报告：一名1.5岁女孩，患有Arnold-Chiari畸形、脑积水、脊柱裂和双侧极重度感音神经性听力损失，接受耳蜗植入评估。影像学检查显示严重双侧内耳畸形，包括耳蜗发育不良，并伴有多发颅内异常。尽管早期使用助听器，听觉发育仍受限。患者接受左侧耳蜗植入，使用MED-EL SYNCHRONY 2装置及标准电极阵列。术中在耳蜗开窗时发生明显脑脊液漏（“井喷”），并使用自体组织和组织黏合剂成功控制。植入后12个月，随访听力学评估显示行为听觉反应改善，父母报告对环境声音的反应性增加。结论：对于尽管存在严重内耳和中枢神经系统异常但经过选择的Arnold-Chiari综合征患者，耳蜗植入可能提供有意义的听觉获益。全面的术前影像学和多学科评估对于手术计划和预后评估至关重要。需要更大患者队列的进一步研究，以更好地确定影响该人群耳蜗植入结局的预后因素。

英文摘要

BACKGROUND Arnold-Chiari syndrome is a congenital malformation of the posterior cranial fossa associated with neurological and otoneurological abnormalities, including hearing loss of variable severity. Cochlear implantation in patients with complex central nervous system malformations remains challenging due to uncertain auditory outcomes. This study aimed to evaluate the feasibility and early outcomes of cochlear implantation in a child with Arnold-Chiari syndrome and severe bilateral inner ear malformations. CASE REPORT A 1.5-year-old girl with Arnold-Chiari malformation, hydrocephalus, spina bifida, and profound bilateral sensorineural hearing loss was evaluated for cochlear implantation. Imaging studies revealed severe bilateral inner ear malformations, including cochlear hypoplasia, accompanied by multiple intracranial abnormalities. Despite early hearing aid use, auditory development remained limited. The patient underwent left-sided cochlear implantation with a MED-EL SYNCHRONY 2 device using a standard electrode array. Intraoperatively, significant cerebrospinal fluid leakage ("gusher") occurred during cochleostomy and was successfully controlled using autologous tissues and tissue adhesive. Twelve months after implantation, follow-up audiological evaluation demonstrated improved behavioral auditory responses and increased responsiveness to environmental sounds, as reported by the parents. CONCLUSIONS Cochlear implantation may provide meaningful auditory benefit in selected patients with Arnold-Chiari syndrome despite severe inner ear and central nervous system abnormalities. Comprehensive preoperative imaging and multidisciplinary assessment are essential for surgical planning and prognosis evaluation. Further studies involving larger patient cohorts are required to better define prognostic factors influencing cochlear implantation outcomes in this population.