Jared T Sokol, Sandra Hoyek, Anne B Fulton, Nimesh A Patel
{"title":"伪装成重症肌无力的卡恩斯-赛尔综合征","authors":"Jared T Sokol, Sandra Hoyek, Anne B Fulton, Nimesh A Patel","doi":"10.1097/ICB.0000000000001397","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that is characterized by the triad of onset commonly before age 20, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here, we present a case of KSS masquerading as myasthenia gravis.</p><p><strong>Methods: </strong>Case report.</p><p><strong>Results: </strong>A 15-year-old boy with a presumed diagnosis of myasthenia gravis presented with blurry vision, ophthalmoplegia, and ptosis. He was found to have a mitochondrial pigmentary retinopathy and was eventually diagnosed with KSS after mitochondrial DNA sequencing revealed a novel large-scale deletion of 7.9 kb of mitochondrial DNA from nucleotides 6,578 to 14,460.</p><p><strong>Conclusion: </strong>We report a case of KSS found to have a novel large-scale mitochondrial DNA deletion. The presence of a mitochondrial pigmentary retinopathy found on dilated examination led to reconsideration of the previous diagnosis of myasthenia gravis and ultimately led to the correct diagnosis of KSS.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"KEARNS-SAYRE SYNDROME MASQUERADING AS MYASTHENIA GRAVIS.\",\"authors\":\"Jared T Sokol, Sandra Hoyek, Anne B Fulton, Nimesh A Patel\",\"doi\":\"10.1097/ICB.0000000000001397\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that is characterized by the triad of onset commonly before age 20, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here, we present a case of KSS masquerading as myasthenia gravis.</p><p><strong>Methods: </strong>Case report.</p><p><strong>Results: </strong>A 15-year-old boy with a presumed diagnosis of myasthenia gravis presented with blurry vision, ophthalmoplegia, and ptosis. He was found to have a mitochondrial pigmentary retinopathy and was eventually diagnosed with KSS after mitochondrial DNA sequencing revealed a novel large-scale deletion of 7.9 kb of mitochondrial DNA from nucleotides 6,578 to 14,460.</p><p><strong>Conclusion: </strong>We report a case of KSS found to have a novel large-scale mitochondrial DNA deletion. The presence of a mitochondrial pigmentary retinopathy found on dilated examination led to reconsideration of the previous diagnosis of myasthenia gravis and ultimately led to the correct diagnosis of KSS.</p>\",\"PeriodicalId\":53580,\"journal\":{\"name\":\"Retinal Cases and Brief Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Retinal Cases and Brief Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/ICB.0000000000001397\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Retinal Cases and Brief Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/ICB.0000000000001397","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
KEARNS-SAYRE SYNDROME MASQUERADING AS MYASTHENIA GRAVIS.
Purpose: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that is characterized by the triad of onset commonly before age 20, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here, we present a case of KSS masquerading as myasthenia gravis.
Methods: Case report.
Results: A 15-year-old boy with a presumed diagnosis of myasthenia gravis presented with blurry vision, ophthalmoplegia, and ptosis. He was found to have a mitochondrial pigmentary retinopathy and was eventually diagnosed with KSS after mitochondrial DNA sequencing revealed a novel large-scale deletion of 7.9 kb of mitochondrial DNA from nucleotides 6,578 to 14,460.
Conclusion: We report a case of KSS found to have a novel large-scale mitochondrial DNA deletion. The presence of a mitochondrial pigmentary retinopathy found on dilated examination led to reconsideration of the previous diagnosis of myasthenia gravis and ultimately led to the correct diagnosis of KSS.