Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report.
10.13201/j.issn.2096-7993.2024.01.012
- Author:
Yun GAO
1
;
Fengjiao LI
2
;
Rong LUO
3
;
Guohui CHEN
1
;
Danyang LI
1
;
Dayong WANG
1
;
Qiuju WANG
1
Author Information
1. Department of Audiology and Vestibular Medicine，Senior Department of Otolaryngology Head and Neck Surgery，the Sixth Medical Center of Chinese PLA General Hospital，National Clinical Research Center for Otolaryngologic Diseases，Beijing，100048，China.
2. Department of Otolaryngology Head and Neck Surgery，the Second People's Hospital of Jiaozuo City，the First Affiliated Hospital of Henan Polytechnic University.
3. Department of Otolaryngology Head and Neck Surgery，Sichuan Tianfu New Area People's Hospital.
- Publication Type:Journal Article
- Keywords:
ATP1A3 gene;
CAPOS syndrome;
cerebellar ataxia;
optic atrophy;
sensorineural hearing loss
- MeSH:
Humans;
Child;
Female;
Cerebellar Ataxia/diagnosis*;
Talipes Cavus;
Hearing Loss, Sensorineural/diagnosis*;
Optic Atrophy/diagnosis*;
Mutation;
Phenotype;
Sodium-Potassium-Exchanging ATPase/genetics*;
Foot Deformities, Congenital;
Reflex, Abnormal
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2024;38(1):73-76
- CountryChina
- Language:Chinese
-
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.
