1例母源性ATP1A3基因变异所致CAPOS综合征临床特征报告  

Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation:a case report

作　　者：高云[1] 李凤娇 罗容 谌国会 李丹阳 王大勇[1] 王秋菊[1] GAO Yun;LI Fengjiao;LUO Rong;CHEN Guohui;LI Danyang;WANG Dayong;WANG Qiuju(Department of Audiology and Vestibular Medicine,Senior Department of Otolaryngology Head and Neck Surgery,the Sixth Medical Center of Chinese PLA General Hospital,National Clinical Research Center for Otolaryngologic Diseases,Beijing,100048,China;Department of Otolaryngology Head and Neck Surgery,the Second People's Hospital of Jiaozuo City,the First Affiliated Hospital of Henan Polytechnic University;Department of Otolaryngology Head and Neck Surgery,Sichuan Tianfu New Area People's Hospital)

机构地区：[1]解放军总医院第六医学中心耳鼻咽喉头颈外科医学部耳鼻咽喉内科、国家耳鼻咽喉疾病临床医学研究中心,北京100048 [2]河南省焦作市第二人民医院、河南理工大学第一附属医院耳鼻咽喉头颈外科 [3]四川天府新区人民医院耳鼻咽喉头颈外科

出　　处：《临床耳鼻咽喉头颈外科杂志》2024年第1期73-76,共4页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：国家自然科学基金优秀青年基金项目(No:82222016);国家自然科学基金面上项目(No:82171130、82271189、82271171)。

摘　　要：CAPOS综合征是由ATP1A3基因引起的常染色体显性遗传的神经系统疾病,现报告1例母源性ATP1A3基因变异所致CAPOS综合征的病例,本例患儿及其母亲均表现为发热后诱发,双耳重度以上的神经性耳聋、共济失调、腱反射消失、视力下降,母亲高足弓。经全外显子测序及线粒体基因检测证实为ATP1A3c.2452G>A(Glu818Lys)杂合变异致病。本文通过阐述病例的临床特点、诊疗经过及其与基因型的相关性,提高临床医师对CAPOS综合征的认识。CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene.Initial symptoms,often fever-induced,include recurrent acute ataxic encephalopathy in childhood,featuring cerebellar ataxia,optic atrophy,areflflexia,sensorineural hearing loss,and in some cases,pes cavus.This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation.Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears,ataxia,areflexia,and decreased vision.Additionally,the patient's mother presented with pes cavus.Genetic testing revealed a c.2452G>A(Glu818Lys)heterozygous mutation in the ATP1A3 gene in the patient.This article aims to enhance clinicians'understanding of CAPOS syndrome,emphasizing the case's clinical characteristics,diagnostic process,treatment,and its correlation with genotypeic findings.

关 键 词：CAPOS综合征 ATP1A3基因 共济失调 视神经萎缩 感音神经性聋 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]