Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation:a case report
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.
CAPOS syndromeATP1A3 genecerebellar ataxiaoptic atrophysensorineural hearing loss
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