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.
Abstract
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 tes-ting revealed a c.2452G＞A(Glu818Lys)heterozygous mutation in theATP1A3 gene in the patient.This article aims to enhance clinicians'understanding of CAPOS syndrome,emphasizing the case's clinical characteristics,di-agnostic process,treatment,and its correlation with genotypeic findings.
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