卡恩斯-赛尔综合征伪装成重症肌无力。
KEARNS-SAYRE SYNDROME MASQUERADING AS MYASTHENIA GRAVIS.
机构信息
Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts; and.
Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
出版信息
Retin Cases Brief Rep. 2024 May 1;18(3):396-399. doi: 10.1097/ICB.0000000000001397.
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.
目的
Kearns-Sayre 综合征（KSS）是一种线粒体 DNA 缺失综合征，其特征为三联征，即通常在 20 岁之前发病、色素性视网膜炎和慢性进行性眼外肌麻痹。本文报道了 1 例以重症肌无力为表现的 KSS。
方法
病例报告。
结果
15 岁男孩拟诊为重症肌无力，表现为视力模糊、眼肌麻痹和上睑下垂。他患有线粒体色素性视网膜炎，最终通过线粒体 DNA 测序发现从核苷酸 6578 到 14460 存在一个 7.9kb 的线粒体 DNA 大片段缺失，确诊为 KSS。
结论
我们报告了 1 例 KSS，发现了一种新的大片段线粒体 DNA 缺失。散瞳检查发现存在线粒体色素性视网膜炎，促使我们重新考虑之前的重症肌无力诊断，最终导致 KSS 的正确诊断。
Zotero 插件