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
in Chinese
| WPRIM
| ID: wpr-1011105
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Foot Deformities, Congenital
/
Cerebellar Ataxia
/
Optic Atrophy
/
Reflex, Abnormal
/
Sodium-Potassium-Exchanging ATPase
/
Talipes Cavus
/
Hearing Loss, Sensorineural
/
Mutation
Limits:
Child
/
Female
/
Humans
Language:
Chinese
Journal:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Year:
2024
Type:
Article
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