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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

Late-onset Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) Syndrome in a 63-year-old Patient.

作者信息

Abdullah Hassan, Shah Syed, Husain Humza, Hassan Furqan, Maqsood Hamza

机构信息

Medicine, Nishtar Medical University, Multan, PAK.

Neurology, University of Alabama, Birmingham, USA.

出版信息

Cureus. 2020 Apr 27;12(4):e7862. doi: 10.7759/cureus.7862.

DOI:10.7759/cureus.7862
PMID:32483512
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7255082/
Abstract

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) usually manifests in early life. Clinical hallmarks of the disease are mitochondrial myopathies, encephalopathy with stroke-like episodes, seizures, and lactic acidosis. It rarely manifests in late adulthood. Here we present the case of a 63-year-old female patient who developed recurrent stroke-like symptoms with typical resolving and remitting pattern of findings on imaging. Later on, it was confirmed as a case of MELAS upon genetic analysis.

摘要

伴有乳酸酸中毒和卒中样发作的线粒体脑肌病（MELAS）通常在早年发病。该疾病的临床特征为线粒体肌病、伴有卒中样发作的脑病、癫痫发作和乳酸酸中毒。它很少在成年晚期发病。在此，我们报告一例63岁女性患者，该患者出现反复的卒中样症状，影像学检查结果具有典型的缓解和复发模式。后来，经基因分析确诊为MELAS病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2aa/7255082/9b375c496075/cureus-0012-00000007862-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2aa/7255082/61c5203a6302/cureus-0012-00000007862-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2aa/7255082/a45cc5c063bc/cureus-0012-00000007862-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2aa/7255082/8345eeb26329/cureus-0012-00000007862-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2aa/7255082/9b375c496075/cureus-0012-00000007862-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2aa/7255082/61c5203a6302/cureus-0012-00000007862-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2aa/7255082/a45cc5c063bc/cureus-0012-00000007862-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2aa/7255082/8345eeb26329/cureus-0012-00000007862-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2aa/7255082/9b375c496075/cureus-0012-00000007862-i04.jpg

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本文引用的文献

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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.
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The imaging spectrum of posterior reversible encephalopathy syndrome: A pictorial review.后部可逆性脑病综合征的影像学表现：图文综述。
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Imaging of MELAS.线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）的影像学表现
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