CAPOS综合征一例

A case of cerebellar ataxia,areflexia,pes cavus,optic nerve atrophy,and sensorineural hearing loss syndrome.

小脑共济失调、反射消失、高弓足、视神经萎缩和感觉神经性听力丧失(CAPOS)综合征是一种罕见的神经系统疾病,ATP1A3基因中的c.2452G>A突变在该病的发病过程中起重要作用。该病临床容易误诊、漏诊,目前国内鲜见该病的相关报道。本文报道一例以提高对该病的认识。

Cerebellar ataxia,areflexia,pes cavus,optic nerve atrophy,and sensorineural hearing loss(CAPOS)syndrome is a rare neurological disorder in which the c.2452G>A mutation in the ATP1A3 gene plays an important role.It is easy to be misdiagnosed and missed diagnosed in clinical practice,and there are few related reports of this disease in China.In this paper,the clinical data of a child with CAPOS syndrome were retrospectively analyzed and the literature was reviewed,to improve the awareness of the disease.