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.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Deformidades Congénitas del Pie
/
Ataxia Cerebelosa
/
Atrofia Óptica
/
Reflejo Anormal
/
ATPasa Intercambiadora de Sodio-Potasio
/
Pie Cavo
/
Pérdida Auditiva Sensorineural
/
Mutación
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Año:
2024
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS