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本文引用的文献

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Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient: Case report.线粒体A3243G突变致一名中国患者患线粒体脑肌病:病例报告
Medicine (Baltimore). 2019 May;98(19):e15534. doi: 10.1097/MD.0000000000015534.
2
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.NDUFB8 突变导致 Leigh 样脑肌病患者的线粒体复合物 I 缺陷。
Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8.
3
Arginine and citrulline for the treatment of MELAS syndrome.精氨酸和瓜氨酸用于治疗线粒体脑肌病伴乳酸血症和卒中样发作综合征
J Inborn Errors Metab Screen. 2017 Jan;5. doi: 10.1177/2326409817697399. Epub 2017 Mar 24.
4
Genetic Counselling for Maternally Inherited Mitochondrial Disorders.母系遗传线粒体疾病的遗传咨询
Mol Diagn Ther. 2017 Aug;21(4):419-429. doi: 10.1007/s40291-017-0279-7.
5
Toxicity of Antiepileptic Drugs to Mitochondria.抗癫痫药物对线粒体的毒性
Handb Exp Pharmacol. 2017;240:473-488. doi: 10.1007/164_2016_2.
6
Multimodal imaging-monitored progression of stroke-like episodes in a case of MELAS syndrome.多模态影像监测 MELAS 综合征卒中样发作的进展。
Clin Nucl Med. 2014 Mar;39(3):e239-40. doi: 10.1097/RLU.0b013e318286bd6f.
7
Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.线粒体DNA编码的tRNA基因缺陷患者骨骼肌中氧化磷酸化复合物的免疫组织化学分析。
J Clin Pathol. 2009 Feb;62(2):172-6. doi: 10.1136/jcp.2008.061267.

中风样发作的治疗管理与脑炎不同。

Therapeutic management of stroke-like episodes varies from that of encephalitis.

作者信息

Finsterer Josef

机构信息

Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.

出版信息

Medicine (Baltimore). 2020 Feb;99(8):e19141. doi: 10.1097/MD.0000000000019141.

DOI:10.1097/MD.0000000000019141
PMID:32080090
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7034643/
Abstract

INTRODUCTION

Stroke-like episodes (SLEs) are typical cerebral manifestations of certain mitochondrial disorders (MIDs). They are characterised by a vasogenic edema in a non-vascular distribution. PATIENTS CONCERNS:: none DIAGNOSIS:: SLEs show up on cerebral MRI as stroke-like lesions (SLLs), characterised by vasogenic edema in a non-vascular distribution. SLLs expand in the acute stage and regress during the chronic stage. They show hyperperfusion in the acute stage and hypoperfusion in the chronic stage.

INTERVENTIONS

SLLs respond favorably to antiseizure drugs, to No-precursors, steroids, the ketogenic diet, and antioxidants.

OUTCOME

SLLs end up as normal tissue, white matter lesion, grey matter lesion, cyst, laminar cortical necrosis, or the toenail sign.

CONCLUSIONS

SLLs are a frequent manifestation of MIDs. They undergo dynamic changes in the acute and chronic stage. They need to be differentiated from ischemic stroke as they are differentially treated.

摘要

引言

类卒中发作(SLEs)是某些线粒体疾病(MIDs)典型的脑部表现。其特征为非血管分布区域的血管源性水肿。

患者情况

无

诊断

SLEs在脑部磁共振成像(MRI)上表现为类卒中病灶(SLLs),其特征为非血管分布区域的血管源性水肿。SLLs在急性期扩大,在慢性期消退。它们在急性期表现为灌注增强,在慢性期表现为灌注减低。

干预措施

SLLs对抗癫痫药物、一氧化氮前体、类固醇、生酮饮食和抗氧化剂反应良好。

结果

SLLs最终转归为正常组织、白质病变、灰质病变、囊肿、层状皮质坏死或甲征。

结论

SLLs是MIDs的常见表现。它们在急性期和慢性期会发生动态变化。由于治疗方法不同,需要将它们与缺血性卒中相鉴别。