小脑性共济失调、反射消失、高弓足、视神经萎缩和感音性神经性听力损失综合征一例报道并文献复习  

Cerebellar ataxia,areflexia,pes cavus,optic atrophy and sensorineural hearing loss syndrome:a case report and literature review

作　　者：尤桦菁 刘敏[2] 赵静[3] 孙金仓健 李艳伟 闫超 初建平[3] 吴超[1] 李洵桦[1] You Huajing;Liu Min;Zhao Jing;Sunjin Cangjian;Li Yanwei;Yan Chao;Chu Jianping;Wu Chao;Li Xunhua(Department of Neurology,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou 510080,China;Department of Otolaryngology,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou 510080,China;Department of Radiology,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou 510080,China;AmCare Genomics Laboratory,Guangzhou 510000,China;Guangzhou DaAn Clinical Laboratory Center,Guangzhou 510000,China)

机构地区：[1]中山大学附属第一医院神经科,广州510080 [2]中山大学附属第一医院耳鼻喉科,广州510080 [3]中山大学附属第一医院放射科,广州510080 [4]广州嘉检医学检测有限公司,510000 [5]广州达安临床检验中心有限公司,510000

出　　处：《中华神经科杂志》2020年第1期38-45,共8页Chinese Journal of Neurology

基　　金：广东省科技计划项目(2017A030303012);广东省重大神经疾病诊治研究重点实验室项目(2017B030314103);华南神经疾病早期干预及功能修复研究国际合作基地项目(2015B050501003)。

摘　　要：目的总结小脑性共济失调、反射消失、高弓足、视神经萎缩和感音性神经性听力损失(CAPOS)综合征患者的临床特点。方法收集1例于2018年8月21日至中山大学附属第一医院神经遗传专科就诊,经基因确诊的CAPOS综合征患者的病史、体格检查及相关辅助检查结果。结果患者男性,20岁,主因"协调性差19年,视力下降15年,听力下降13年"就诊。患者11个月龄时曾出现腹泻后四肢乏力,数天后可自行恢复,随后开始出现四肢协调性差,5岁时开始出现双眼视力进行性下降,7岁时发热后出现双耳听力损害,当时抗感染及免疫调节治疗无效。体格检查:双眼视力下降,可见短暂水平凝视诱发眼震,双耳听力下降,脚尖并拢站立明显摇晃,闭目不能站稳,指鼻、手指追踪及跟膝胫试验稍欠稳准,快速轮替试验轻度不规则,四肢腱反射消失,无弓形足。纯音测听提示双耳感音性神经性耳聋。头颅MRI可见双侧视神经萎缩。基因检测结果提示ATP1A3基因c.2452G>A(p.Glu818Lys)杂合突变。结论对于发热后急性发作的小脑性共济失调、反射消失、视神经萎缩及感音性神经性耳聋的年轻患者,经免疫调节或抗感染治疗无效时,需高度警惕CAPOS综合征,阳性家族史及ATP1A3基因突变检测可进一步确诊。Objective To summarize the clinical characteristics of a patient with cerebellar ataxia,areflexia,pes cavus,optic atrophy and sensorineural hearing loss(CAPOS)syndrome,followed by relative literature review.Methods The medical history,physical examination and results of relative auxiliary examinations were collected from a CAPOS syndrome patient,who was definitely diagnosed by gene detection.Results The patient was a 20-year-old male,complaining of poor coordination for 19 years,impaired vision for 15 years and hearing loss for 13 years.When he was eleven months old,weakness of four limbs happened after diarrhea but recovered spontaneously a few days later.Then his poor coordination was discovered.His vision has decreased progressively since the age of five and he began to suffer from bilateral hearing loss after fever at the age of seven.Anti-infectious and immunoregulatory treatment was ineffective at that time.Physical examination showed that bilateral visual acuity decreased.Transient horizontal gaze-evoked nystagmus and bilateral hearing loss were detected.Obvious shaking was observed with closed eyes and toes together.Finger-to-nose,finger tracking,heel-knee-tibia and alternate motion tests were slightly inaccurate.Deep tendon reflexes disappeared and no pes cavus was observed.Pure tone audiometry revealed bilateral sensorineural hearing loss.Cranial magnetic resonance imaging indicated bilateral optic atrophy.ATP1A3 gene detection in the patient showed c.2452G>A(p.Glu818Lys)heterozygous mutation while his parents were detected no such mutation in the same locus.Conclusions As for young patients who suffer from acute cerebellar ataxia after fever,disappeared tendon reflexes,atrophy of optic nerves or sensorineural hearing loss,they should be alerted to CAPOS syndrome when immunomodulating or anti-inflammatory therapy has been proved to be useless.Positive family history and ATP1A3 gene mutation would be beneficial to definite diagnosis.

关 键 词：小脑性共济失调 反射 异常 视神经萎缩 听觉丧失 ATP1A3基因 

分 类 号：R74[医药卫生—神经病学与精神病学] R76[医药卫生—临床医学]