Md Abdullah Al Muzahid, A. Chowdhury, Sujan Saha, Uttam Roy, Md Suman Kabir, Imran Sarker, Md. Rafiqul Islam
{"title":"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","authors":"Md Abdullah Al Muzahid, A. Chowdhury, Sujan Saha, Uttam Roy, Md Suman Kabir, Imran Sarker, Md. Rafiqul Islam","doi":"10.3329/bjn.v34i2.57556","DOIUrl":null,"url":null,"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.\nBangladesh Journal of Neuroscience 2018; Vol. 34 (2): 110-114","PeriodicalId":8727,"journal":{"name":"Bangladesh Journal of Neuroscience","volume":"11 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2018-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Cerebellar Ataxia with Progressive Optic Atrophy and Deafness (CAPOS Syndrome): A Rare Case Report\",\"authors\":\"Md Abdullah Al Muzahid, A. Chowdhury, Sujan Saha, Uttam Roy, Md Suman Kabir, Imran Sarker, Md. Rafiqul Islam\",\"doi\":\"10.3329/bjn.v34i2.57556\",\"DOIUrl\":null,\"url\":null,\"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.\\nBangladesh Journal of Neuroscience 2018; Vol. 34 (2): 110-114\",\"PeriodicalId\":8727,\"journal\":{\"name\":\"Bangladesh Journal of Neuroscience\",\"volume\":\"11 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-07-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bangladesh Journal of Neuroscience\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3329/bjn.v34i2.57556\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bangladesh Journal of Neuroscience","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3329/bjn.v34i2.57556","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Cerebellar Ataxia with Progressive Optic Atrophy and Deafness (CAPOS Syndrome): A Rare Case Report
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