CHARGE综合征患者颞骨影像和临床特点

Clinical Features and Temporal Bone imaging Findings in Patients with CHARGE Syndrome

目的CHARGE综合征是一种以耳部畸形耳聋为主要表现、已被广泛认可的多系统畸形综合征,国内仅有散在个案报道。本研究旨在探讨CHARGE患者的耳科临床特点、诊断及相关治疗经验。方法以CL Hale2016年所提出的诊断标准为依据,回顾分析2018年2月-2019年9月我科收治的耳科患者病情资料,总结CHARGE综合征患儿的临床表现、听力学表现和颞骨影像学表现。结果共发现6例患者。其中男3例,女3例,年龄1岁2月~16岁,中位年龄9.8岁。患者均因耳聋就诊,行走平衡发育障碍,基因检测CHD7基因病理性突变。合并耳部结构畸形类型及比例依次为:半规管及前庭发育不良100%(12/12)、耳蜗畸形83.3%(10/12)、听神经发育不良83.3%(10/12)、听骨链畸形58.3%(7/12)、耳廓结构或形态畸形58.3%(7/12)、分泌性中耳炎50%(6/12)、异常乳突导静脉50%(6/12)。1例为传导性耳聋接受单侧鼓室成型术,4例为极重度耳聋接受人工耳蜗植入手术,1例极重度耳聋患者因较为严重的心脏疾病暂时未能接受人工耳蜗植入手术。上述患者均合并其他系统发育畸形:先天性心脏病5例、眼部脉络膜缺损或视神经发育不良4例、后鼻孔闭锁1例、多指畸形1例、性腺发育不良1例。结论先天性耳聋患者的颞骨CT提示半规管前庭发育不良时,如果患者合并耳廓形态结构畸形或眼、鼻、心脏等畸形,医生应考虑到CHARGE综合征的可能性。结合基因诊断技术,有助于早期诊断并制定合理的治疗方案。

Objective To report neuroradiologic findings,clinical and audiological features in patients with CHARGE syndrome.CHARGE syndrome is a rare,usually sporadic autosomal dominant hereditary disease,and nearly all patients have hearing loss and ear malformation.However,few cases have been reported in Chinese medical literature.Methods Imaging data and audiometric results in-patients with CHARGE syndrome identified from February 2018 to September 2019 in Xijing Hospital were retrospectively reviewed.Results Six children(12 ears)with deafness were included.CHD7 gene mutations were found in all of them.Various ear anomalies were found,including semicircular canals and vestibules abnormalities(n=12,100%),cochlear dysplasia(n=10,83.3%),auditory nerve deficiency(n=10,83.3%),abnormal ossicles(n=7,58.3%),auricular malformation(n=7,58.3%),otitis media(n=6,50%)and abnormal transmastoid emissary veins.One teenager with bilateral conductive hearing loss underwent unilateral tympanoplasty.Four children with prelingual severe deafness underwent cochlear implantation.One toddler with severe deafness could not receive cochlear implantation due to heart disease.Associated congenital anomalies in these patients included congenital heart disease(5/6),choroid defect or optic nerve dysplasia(4/6),choanal atresia(1/6),polydactyly(1/6)and gonadal dysplasia(1/6).Conclusions Otologist should think of CHARGE syndrome when temporal bone images in patients with congenital hearing loss indicate semicircular canals and vestibules dysplasia,especially when these are combined with auricular and/or eye malformation,choanal atresia or heart diseases.Diagnostic genetic tests are beneficial for early diagnosis and adequate treatment planning within a multi-disciplinary team.