{"title":"布朗-维亚莱托-范拉雷综合征","authors":"Shima Imannezhad, Ehsan Ghayoor Karimiani, Majid Sezavar, Gholam Reza Khademi, Maryam Naseri, Farah Ashrafzadeh","doi":"10.22037/ijcn.v18i2.37314","DOIUrl":null,"url":null,"abstract":"<p><p>Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurodegenerative disorder of childhood. According to the previous reports, it has various primary signs and symptoms. Because of the simple treatment with riboflavin supplementation, it is important to have suspicious to this disease and begin treatment even before genetic test confirm. We report a five-year-old girl with BVVLS that manifest with hearing problems, first. There was obvious improvement in her disease clinical signs with riboflavin supplementation treatment.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":0.8000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11015728/pdf/","citationCount":"0","resultStr":"{\"title\":\"Brown-Vialetto-Van Laere syndrome.\",\"authors\":\"Shima Imannezhad, Ehsan Ghayoor Karimiani, Majid Sezavar, Gholam Reza Khademi, Maryam Naseri, Farah Ashrafzadeh\",\"doi\":\"10.22037/ijcn.v18i2.37314\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurodegenerative disorder of childhood. According to the previous reports, it has various primary signs and symptoms. Because of the simple treatment with riboflavin supplementation, it is important to have suspicious to this disease and begin treatment even before genetic test confirm. We report a five-year-old girl with BVVLS that manifest with hearing problems, first. There was obvious improvement in her disease clinical signs with riboflavin supplementation treatment.</p>\",\"PeriodicalId\":14537,\"journal\":{\"name\":\"Iranian Journal of Child Neurology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11015728/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Iranian Journal of Child Neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.22037/ijcn.v18i2.37314\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/3/12 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Iranian Journal of Child Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.22037/ijcn.v18i2.37314","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/3/12 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurodegenerative disorder of childhood. According to the previous reports, it has various primary signs and symptoms. Because of the simple treatment with riboflavin supplementation, it is important to have suspicious to this disease and begin treatment even before genetic test confirm. We report a five-year-old girl with BVVLS that manifest with hearing problems, first. There was obvious improvement in her disease clinical signs with riboflavin supplementation treatment.