Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report
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摘要: CAPOS综合征是由ATP1A3基因引起的常染色体显性遗传的神经系统疾病，现报告1例母源性ATP1A3基因变异所致CAPOS综合征的病例，本例患儿及其母亲均表现为发热后诱发，双耳重度以上的神经性耳聋、共济失调、腱反射消失、视力下降，母亲高足弓。经全外显子测序及线粒体基因检测证实为ATP1A3 c.2452G>A(Glu818Lys)杂合变异致病。本文通过阐述病例的临床特点、诊疗经过及其与基因型的相关性，提高临床医师对CAPOS综合征的认识。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 the ATP1A3 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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Key words:
- CAPOS syndrome /
- ATP1A3 gene /
- cerebellar ataxia /
- optic atrophy /
- sensorineural hearing loss
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