目的 报告1名双耳极重度感音神经性耳聋伴有步态不稳的男性患儿诊断为佩罗(Perrault)综合征后成功行人工耳蜗植入,总结该患者的临床表现及效果.方法 分析整理Perrault综合征患者的各项术前检查、手术及术后调机参数及疗效评估,观察患者人工耳蜗助听效果和言语分辨能力.结果 该患者基因诊断为TWNK位点的Perrault综合征.听力学表现结合临床为听神经病谱系障碍(auditory neuropathy spectrum disorder,ANSD).该患者植入人工耳蜗术后5年,助听听阈平均听力为30 dB HL,可分辨并仿说林氏六音,听觉能力分级评估(CAP)为6级.言语可懂度分级评估(SIR)为4级.可以与家人日常沟通,言语表达能力稍差.结论 重度以上听力损失Perrault综合征患者植入人工耳蜗后可以恢复听觉和语言交流能力.听力损失患者的早期基因诊断在患者的治疗方案、干预方式和干预疗效中起重要作用.
Abstract
Objective This article describes the diagnosis of Perrault syndrome in a male child with profound sensorineural deafness in both ears and gait instability who was successfully implanted with a cochlear implant.Methods Analyze and organize the preoperative evaluations,surgical procedures,postoperative adjustment parameters,and efficacy assessments of a patient with Perrault Syndrome.Observe the patient's auditory outcomes with a cochlear implant and speech discrimination ability.Results The patient was diagnosed with Perrault Syndrome based on the results of genetic testing that confirmed compound heterozygous TWNK missense variants(c.1172G＞A:p.Arg391His and c.1844G＞C:p.Gly615Ala).The audiological manifestations,in conjunction with clinical findings,are indicative of Auditory Neuropathy Spectrum Disorder(ANSD).The patient,five years after cochlear implant,has an average aided hearing threshold of 30 dB HL and can distinguish and imitate the Ling's Sounds.The Categories of Auditory Performance is at level 6.The Speech Intelligibility Rating is at level 4.The patient can communicate daily with family members,but has slightly poor speech expression ability.Conclusion Patients with Perrault syndrome who have hearing loss can restore auditory and verbal communication ability after cochlear implantation.The early genetic diagnosis of hearing loss patients plays an important role in the treatment plan,intervention methods and intervention efficacy of patients.
维普
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