• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS)所致复发性交替性同向性偏盲:一例报告

Recurrent Alternate-Sided Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report.

作者信息

Krysko Kristen M, Sundaram Arun N E

机构信息

Division of Neurology, University of Toronto , Toronto, Ontario, Canada.

Division of Neurology, University of Toronto, Toronto, Ontario, Canada; Department of Ophthalmology and Visual Sciences, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.

出版信息

Neuroophthalmology. 2016 Sep 23;41(1):30-34. doi: 10.1080/01658107.2016.1224256. eCollection 2017 Feb.

DOI:10.1080/01658107.2016.1224256
PMID:28228835
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5278788/
Abstract

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) can rarely cause alternate-sided homonymous hemianopia due to stroke-like episodes involving the occipital lobes, as reported in three previously published cases. The authors report an interesting case of a 16-year-old presenting with myoclonic epilepsy due to MELAS with the rare ND3 mitochondrial mutation T10191C, with recurrent alternate-sided homonymous hemianopia. Visual field and corresponding magnetic resonance imaging (MRI) findings are presented. To the authors' knowledge, this is the first report of recurrent alternate-sided homonymous hemianopia in MELAS with documented visual field and MRI findings with resolution between each episode.

摘要

线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS)很少会因累及枕叶的卒中样发作而导致交替性同向性偏盲,此前已有3例病例报道。作者报告了1例有趣的病例,一名16岁青少年因MELAS伴罕见的ND3线粒体突变T10191C出现肌阵挛性癫痫,并伴有反复交替性同向性偏盲。文中展示了视野及相应的磁共振成像(MRI)结果。据作者所知,这是首例有记录的视野和MRI结果且发作间期症状可缓解的MELAS反复交替性同向性偏盲病例报告。

相似文献

1
Recurrent Alternate-Sided Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report.线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS)所致复发性交替性同向性偏盲:一例报告
Neuroophthalmology. 2016 Sep 23;41(1):30-34. doi: 10.1080/01658107.2016.1224256. eCollection 2017 Feb.
2
Alternate-sided homonymous hemianopia as the solitary presentation of mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes syndrome.双侧交替性同向性偏盲作为线粒体脑肌病、乳酸酸中毒、卒中样发作综合征的唯一表现。
Chang Gung Med J. 2003 Mar;26(3):199-203.
3
MELAS presenting as migraine complicated by stroke: case report.
Neuroradiology. 1997 Nov;39(11):781-4. doi: 10.1007/s002340050505.
4
Late-onset Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) Syndrome in a 63-year-old Patient.一名63岁患者的迟发性线粒体脑肌病伴乳酸性酸中毒和卒中样发作(MELAS)综合征
Cureus. 2020 Apr 27;12(4):e7862. doi: 10.7759/cureus.7862.
5
MRI Features of Stroke-Like Episodes in Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes.伴乳酸性酸中毒和卒中样发作的线粒体脑肌病中卒中样发作的MRI特征
Front Neurol. 2022 Feb 9;13:843386. doi: 10.3389/fneur.2022.843386. eCollection 2022.
6
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)患者的癫痫特征及临床结局
Pediatr Neurol. 2016 Nov;64:59-65. doi: 10.1016/j.pediatrneurol.2016.08.016. Epub 2016 Aug 26.
7
Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report.延误诊断线粒体脑肌病、乳酸酸中毒和卒中样发作(MELAS)综合征患者,表现为癫痫持续状态和乳酸酸中毒:病例报告。
J Med Case Rep. 2022 Oct 10;16(1):361. doi: 10.1186/s13256-022-03613-2.
8
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options.线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS):一例报告及对治疗方案的批判性重新评估
Pediatr Neurol. 2016 Mar;56:59-61. doi: 10.1016/j.pediatrneurol.2015.12.010. Epub 2015 Dec 19.
9
Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with progressive sensorineural hearing loss: A case report.成人起病的线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)综合征合并进行性感音神经性听力损失:一例报告。
Radiol Case Rep. 2021 May 24;16(7):1865-1869. doi: 10.1016/j.radcr.2021.04.049. eCollection 2021 Jul.
10
Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report.一名63岁疑似复发性中风患者的成人起病型MELAS综合征诊断——病例报告
BMC Neurol. 2019 May 8;19(1):91. doi: 10.1186/s12883-019-1306-6.

引用本文的文献

1
Comprehensive predictors of drug-resistant epilepsy in MELAS: clinical, EEG, imaging, and biochemical factors.线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)中耐药性癫痫的综合预测因素:临床、脑电图、影像学和生化因素
BMC Neurol. 2025 Feb 14;25(1):64. doi: 10.1186/s12883-025-04046-2.
2
Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3.由线粒体 ND3 基因 m.10191T>C 突变导致的具有新型复杂表型的 Leigh 样综合征。
Cureus. 2022 Sep 9;14(9):e28986. doi: 10.7759/cureus.28986. eCollection 2022 Sep.
3
Cerebral imaging in paediatric mitochondrial disorders.小儿线粒体疾病的脑部成像
Neuroradiol J. 2018 Dec;31(6):596-608. doi: 10.1177/1971400918786054. Epub 2018 Jul 6.

本文引用的文献

1
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.线粒体脑肌病伴乳酸血症和卒中样发作综合征:临床表现、发病机制及治疗选择
Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12. doi: 10.1016/j.ymgme.2015.06.004. Epub 2015 Jun 15.
2
Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.线粒体编码复合物 I 酶突变是中国一组线粒体肌病、脑病、乳酸性酸中毒和卒中样发作患者的第二大常见病因。
J Hum Genet. 2011 Nov;56(11):759-64. doi: 10.1038/jhg.2011.96. Epub 2011 Aug 18.
3
MELAS: a nationwide prospective cohort study of 96 patients in Japan.线粒体脑肌病伴乳酸血症和卒中样发作(MELAS):日本一项针对96例患者的全国性前瞻性队列研究。
Biochim Biophys Acta. 2012 May;1820(5):619-24. doi: 10.1016/j.bbagen.2011.03.015. Epub 2011 Apr 2.
4
MELAS: recurrent reversible hemianopia.
Neurol India. 2010 Sep-Oct;58(5):791-3. doi: 10.4103/0028-3886.72177.
5
Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.伴有乳酸酸中毒和卒中样发作的线粒体脑肌病中脑成像异常的演变
J Neuroophthalmol. 2006 Dec;26(4):251-6. doi: 10.1097/01.wno.0000249317.81367.3d.
6
Alternate-sided homonymous hemianopia as the solitary presentation of mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes syndrome.双侧交替性同向性偏盲作为线粒体脑肌病、乳酸酸中毒、卒中样发作综合征的唯一表现。
Chang Gung Med J. 2003 Mar;26(3):199-203.
7
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
Ann Neurol. 2001 Jul;50(1):104-7. doi: 10.1002/ana.1084.
8
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations.线粒体脑肌病、乳酸酸中毒、卒中样发作(MELAS):临床、影像学、病理学及遗传学观察
Ann Neurol. 1993 Jul;34(1):25-32. doi: 10.1002/ana.410340107.
9
Melas: an original case and clinical criteria for diagnosis.线粒体脑肌病伴乳酸血症和卒中样发作(MELAS):1例原始病例及诊断临床标准
Neuromuscul Disord. 1992;2(2):125-35. doi: 10.1016/0960-8966(92)90045-8.