Cochlear implant and surgical intervention for CHARGE syndrome with laryngeal airway lesions
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摘要: 目的 探讨同期行喉气道病变外科干预和人工耳蜗植入的CHARGE综合征患儿的临床疗效，为合并喉气道病变CHARGE综合征患儿的人工耳蜗植入治疗提供临床证据。方法 回顾性总结5例CHARGE综合征患儿临床资料，其中2例患儿为同期行喉气道病变外科干预和人工耳蜗植入手术治疗，1例采用喉狭窄球囊扩张术+左侧人工耳蜗植入术，1例采用声门上成形术+右侧人工耳蜗植入术。结果 2例患儿接受喉气道外科干预同期人工耳蜗植入术后恢复良好；另外3例极重度感音神经性聋的CHARGE综合征患儿在前期接受畸形矫正手术的基础上行人工耳蜗植入术。5例患儿均伴有CHD7基因突变。结论 对于合并喉气道病变的CHARGE综合征患儿，采用喉气道病变外科干预同期人工耳蜗植入安全且有效。Abstract: Objective To evaluate the clinical efficacy of surgical intervention for laryngeal airway lesions with concurrent cochlear implantation in CHARGE syndrome concomitant laryngeal airway lesions, and provide clinical data for cochlear implantation in children with CHARGE syndrome concomitant laryngeal airway lesions.Methods The medical records of five cases diagnosed with CHARGE syndrome were retrospectively reviewed, two of them treated with surgical intervention for laryngeal airway lesions and concurrent cochlear implantation. One child treated with balloon dilatation of laryngeal stenosis and Cochlear implant, and another case received with modified supraglottoplasty for laryngeal malacia and Cochlear implant.Results Two cases of CHARGE syndrome concomitant laryngeal airway disease, who underwent Cochlear implant and concurrent surgical intervention, recovered well after treatment. The remining three cases treated with Cochlear implant, who previously received deformity-correction surgery. All of the five cases presented with CHD7 mutation.Conclusion Cochlear implant concurrent with surgical intervention of laryngeal airway lesions for the treatment of CHARGE syndrome concomitant laryngeal airway disease was safe and efficient, which could be a treatment option for children in this situation.
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Key words:
- CHARGE syndrome /
- laryngeal airway lesions /
- cochlear implantation
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图 1 例2患儿对侧人工耳蜗植入术后颞骨CT成像； 图 2 例1患儿喉狭窄球囊扩张术前后变化 2a：声门下狭窄(球囊扩张前)，Myer-Cotton分型Ⅱ型；2b：声门下狭窄(球囊扩张后)； 图 3 例1患儿术后X片成像； 图 4 例2患儿喉软化声门成形术前后变化 4a：喉软化症Ⅱ型：杓会厌皱襞短缩；4b：射频消融短缩的杓会厌皱襞和会厌外侧缘。
表 1 5例患儿的临床和基因特征
指标 例1 例2 例3 例4 例5 临床特征发生率/% 本研究 文献报道 性别 男 女 女 女 男 年龄 3岁2月龄 1岁4月龄 2岁2月龄 1岁11月龄 18月龄 主要诊断标准 眼部缺陷 视网膜缺损 脉络膜缺损 脉络膜缺失 单侧小眼畸形 单侧小眼畸形 100.0 80.0~90.0 后鼻孔闭锁或唇腭裂 无 无 不完全腭裂 不完全腭裂 双后鼻孔闭锁 60.0 80.0~100.0 半规管发育不良 双侧半规管未显示 双侧半规管未显示 双侧半规管未显示 双侧半规管、前庭发育畸形 双侧半规管发育不良 100.0 80.0~100.0[5] 次要诊断标准 纵隔器官畸形 动脉导管未闭 动脉导管未闭 动脉导管未闭 动脉导管未闭 无 80.0 75.0~85.0 耳部异常 双耳极重度聋 双耳极重度聋 双耳极重度聋，右侧耳郭畸形 外耳郭畸形，双耳极重度聋 右外耳郭畸形，双耳极重度聋 100.0 80.0~100.0 脑神经功能不全 无 无 无 无 无 0 智力迟缓/发育迟缓 生长发育迟缓 喂养困难，生长发育迟缓 生长发育迟缓 生长发育迟缓 生长发育迟缓 100.0 80.0~100.0 下丘脑-垂体功能不全 无 无 无 无 无 0 其他合并疾病 脊柱侧弯；隐匿性阴茎；后天性喉气管狭窄 马蹄足；先天性喉软化症Ⅱ型 先天性足内翻 先天性喉软化症；小下颌畸形 先天性喉软化；先天性单肾缺如 100.0 CHD7基因突变 有 有 有 有 有 100.0 60.0~70.0 
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表 2 5例患儿听力和影像学检查结果
指标 例1 例2 例3 例4 例5 听力学检查 声导抗鼓室图 双耳A型 左耳A型，右耳C型 双耳A型 双耳B型 双耳C型 DPOAE 双耳各频率未引出 双耳各频率未引出 双耳各频率未引出 双耳各频率未引出 双耳各频率未引出 ABR Ⅴ波反应阀 双耳>97 dB nHL 双耳>90 dB nHL 右耳>97 dB nHL左耳>90 dB nHL 双耳>97 dB nHL 双耳>97 dB nHL ASSR/dB nHL(0.5 kHz/1 kHz/2 kHz/4 kHz) 左: 90/85/100/100；右: 110/110/100/80 左: 80/110/90/100；右: 80/110/110/90 左: 110/120/110/120；右: 120/120/110/100 左: 80/110/110/110；右: 90/100/100/90 左: 90/100/120/100；右: 100/100/120/100 影像学检查 颞骨CT 双侧半规管未显示，乳突板障型 双侧半规管未显示，双侧前庭导水管扩大 双侧半规管未显示，中耳发育不良，右耳窝顶中圈分隔欠佳 双侧半规管、前庭发育畸形 双侧半规管发育不良，颅面骨发育畸形 内听道MRI 半规管未显示，听神经可见 半规管异常，双前庭导水管扩大 右耳蜗顶中圈融合，蜗神经孔略窄 半规管发育不良，前庭听神经细 半规管显示不佳，听神经细 颅脑MRI 双侧侧脑室扩大 颅内未见明显异常 幕上脑室轻度扩大，局部髓鞘化异常可能 两侧脑室后脚少许异常信号 双侧侧脑室旁异常信号影
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