摘要
目的 通过对1例植入人工耳蜗的特纳综合征(Turner syndrome,TS)病例进行个案分析,总结特纳综合征疾病临床特征.方法 通过临床资料、染色体核型分析和生物信息学方法,明确患儿致病基因和突变,评估其人工耳蜗植入前后的听觉和言语能力.结果 患儿有典型的Turner综合征表型特征,听力诊断为左耳全聋,右耳传导性耳聋.染色体核型分析发现患儿携带X单体型(45,X0),左耳行人工耳蜗植入术,术后1年随访听觉行为分级(CAP)为5级,言语可懂度分级(SIR)为4级.结论 外周血染色体核型分析有助于确定Turner综合征耳聋临床诊断,人工耳蜗植入有助于提高综合征患儿的听觉言语能力.
Abstract
Objective A case of Turner syndrome with cochlear implant was analyzed to summarize the clinical features of Turner syndrome.Methods Clinical data,karyotype analysis and bioinformatics were used to identify pathogenic genes and mutations,and to evaluate hearing and speech ability before and after cochlear implantation.Results The patient had typical TURNER syndrome phenotype and was diagnosed as total deafness in the left ear and conductive deafness in the right ear.Chromosome karyotype analysis showed that the patient carried X haplotype(45,X0)and underwent cochlear implantation in the left ear.The auditory behavior rating(CAP)was level 5 and the speech intelligibility rating(SIR)was level 4 at 1 year follow-up.Conclusion Chromosome karyotype analysis of peripheral blood is helpful to determine the clinical diagnosis of TURNER syndrome deafness,and cochlear implantation is helpful to improve the hearing and speech ability of children with Turner syndrome.
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