Cerebellar Ataxia with Progressive Optic Atrophy and Deafness (CAPOS Syndrome): A Rare Case Report

Md Abdullah Al Muzahid, A. Chowdhury, Sujan Saha, Uttam Roy, Md Suman Kabir, Imran Sarker, Md. Rafiqul Islam
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Abstract

CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) is a rare autosomal dominant disorder caused by ATP1A3 mutation. Fever triggered cerebellar dysfunction along with progressive optic atrophy and sensorineural deafness are typical features. Herein, we report a 20-year-old female with multiple fever induced cerebellar dysfunction with partial improvement. Pendular nystagmus and optic atrophy were prominent which were also present in patient’s younger sister. As there was progressive sensorineural hearing loss and areflexia, CAPOS syndrome was diagnosed. Though specific therapy is yet to be developed, acetazolamide, cochlear implantation, visual aid and family screening may improve quality of life. Bangladesh Journal of Neuroscience 2018; Vol. 34 (2): 110-114
小脑性共济失调伴进行性视神经萎缩和耳聋(CAPOS综合征):一例罕见病例报告
CAPOS综合征(小脑性共济失调、反射性松弛、足弓、视神经萎缩、感音神经性听力损失)是一种由ATP1A3突变引起的罕见常染色体显性遗传病。发热引起的小脑功能障碍伴进行性视神经萎缩和感音神经性耳聋是典型的特征。在此,我们报告一位20岁的女性多发性发热引起的小脑功能障碍,部分改善。钟摆性眼球震颤及视神经萎缩明显,患者妹妹亦有此表现。由于有进行性感音神经性听力损失和反射反射,诊断为CAPOS综合征。虽然具体的治疗方法尚未开发,但乙酰唑胺、人工耳蜗植入、视觉辅助和家庭筛查可能会改善生活质量。孟加拉国神经科学杂志2018;Vol. 34 (2): 110-114
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