{"title":"Brown-Vialetto-Van Laere综合征：核黄素显著反应病例报告。","authors":"Morteza Heidari, Masood Ghahvechi Akbari, Golazin ShahbodaghKhan, Masoud Garshasbi, Reza Shervin Badv, Hossein Yousefimanesh","doi":"10.22037/ijcn.v19i3.46308","DOIUrl":null,"url":null,"abstract":"<p><p>Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder caused by riboflavin transporter genes SLC52A2 and SLC52A3 variants. It manifests as a combination of cranial nerve palsies and sensorineural hearing loss. This study presents the case of a 5.5-year-old boy with progressive swallowing difficulties, ptosis, severe hearing loss, and a progressive speech disorder. Remarkably, he showed a significant response to high-dose riboflavin supplementation. Subsequent genetic testing confirmed the diagnosis. Whole exome sequencing identified a homozygous missense variant, [c.239G>A; (p.Gly80Asp)], in the SLC52A3, consistent with BVVL 1. It is essential to remember that BVVL is a set of sensorineural hearing loss and a variety of cranial nerve palsies. Riboflavin should be started as soon as possible because it has a crucial role in neuronal preservation and even reverses the disease.</p>","PeriodicalId":14537,"journal":{"name":"Iranian Journal of Child Neurology","volume":"19 3","pages":"83-86"},"PeriodicalIF":0.9000,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12330977/pdf/","citationCount":"0","resultStr":"{\"title\":\"Brown-Vialetto-Van Laere Syndrome: Case Report of Dramatic Response to Riboflavin.\",\"authors\":\"Morteza Heidari, Masood Ghahvechi Akbari, Golazin ShahbodaghKhan, Masoud Garshasbi, Reza Shervin Badv, Hossein Yousefimanesh\",\"doi\":\"10.22037/ijcn.v19i3.46308\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder caused by riboflavin transporter genes SLC52A2 and SLC52A3 variants. It manifests as a combination of cranial nerve palsies and sensorineural hearing loss. This study presents the case of a 5.5-year-old boy with progressive swallowing difficulties, ptosis, severe hearing loss, and a progressive speech disorder. Remarkably, he showed a significant response to high-dose riboflavin supplementation. Subsequent genetic testing confirmed the diagnosis. Whole exome sequencing identified a homozygous missense variant, [c.239G>A; (p.Gly80Asp)], in the SLC52A3, consistent with BVVL 1. It is essential to remember that BVVL is a set of sensorineural hearing loss and a variety of cranial nerve palsies. Riboflavin should be started as soon as possible because it has a crucial role in neuronal preservation and even reverses the disease.</p>\",\"PeriodicalId\":14537,\"journal\":{\"name\":\"Iranian Journal of Child Neurology\",\"volume\":\"19 3\",\"pages\":\"83-86\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2025-06-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12330977/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Iranian Journal of Child Neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.22037/ijcn.v19i3.46308\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"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.v19i3.46308","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Brown-Vialetto-Van Laere Syndrome: Case Report of Dramatic Response to Riboflavin.
Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder caused by riboflavin transporter genes SLC52A2 and SLC52A3 variants. It manifests as a combination of cranial nerve palsies and sensorineural hearing loss. This study presents the case of a 5.5-year-old boy with progressive swallowing difficulties, ptosis, severe hearing loss, and a progressive speech disorder. Remarkably, he showed a significant response to high-dose riboflavin supplementation. Subsequent genetic testing confirmed the diagnosis. Whole exome sequencing identified a homozygous missense variant, [c.239G>A; (p.Gly80Asp)], in the SLC52A3, consistent with BVVL 1. It is essential to remember that BVVL is a set of sensorineural hearing loss and a variety of cranial nerve palsies. Riboflavin should be started as soon as possible because it has a crucial role in neuronal preservation and even reverses the disease.
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