Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
; (12): 73-76, 2024.
Article
em Zh
| WPRIM
| ID: wpr-1011105
Biblioteca responsável:
WPRO
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 testing 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, diagnostic process, treatment, and its correlation with genotypeic findings.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fenótipo
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Deformidades Congênitas do Pé
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Ataxia Cerebelar
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Atrofia Óptica
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Reflexo Anormal
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ATPase Trocadora de Sódio-Potássio
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Pé Cavo
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Perda Auditiva Neurossensorial
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Mutação
Limite:
Child
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Female
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Humans
Idioma:
Zh
Revista:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Ano de publicação:
2024
Tipo de documento:
Article