AI Article Synopsis
- CAPOS syndrome is an autosomal dominant neurological disorder linked to mutations in a specific gene, with symptoms often triggered by fever, including ataxic encephalopathy, optic atrophy, and hearing loss.
- A case report highlights a mother and daughter who both experienced symptoms such as severe hearing loss, ataxia, and decreased vision, with the mother also having pes cavus.
- Genetic testing identified a specific mutation in the gene associated with CAPOS syndrome, and the report aims to improve clinicians' understanding of the syndrome's clinical features, diagnosis, and treatment.
Article Abstract
CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the 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 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 the 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11116156 | PMC |
| http://dx.doi.org/10.13201/j.issn.2096-7993.2024.01.012 | DOI Listing |
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