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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

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options.

作者信息

Fryer Robert H, Bain Jennifer M, De Vivo Darryl C

机构信息

Department of Neurology, Columbia University Medical Center, New York, New York.

Department of Neurology, Columbia University Medical Center, New York, New York.

出版信息

Pediatr Neurol. 2016 Mar;56:59-61. doi: 10.1016/j.pediatrneurol.2015.12.010. Epub 2015 Dec 19.

DOI:10.1016/j.pediatrneurol.2015.12.010
PMID:26797286
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4789111/
Abstract

IMPORTANCE

Stroke-like episodes signal progression and significant disability in the mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes syndrome. Arginine is widely used as a treatment for stroke-like episode, although there is little evidence for this intervention. We discuss the management of a patient with mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes who presented with a stroke-like episode.

OBSERVATION

During a seizure, which triggers the stroke-like episode, neurons are forced to utilize glycolysis as a source of adenosine triphosphate. Glycolytic by-products are damaging to the neuron. Breakdown of the blood-brain barrier leads to vasogenic edema.

CONCLUSION

Treatment of stroke-like episode should include anticonvulsants interictally to prevent seizures and dexamethasone ictally to help repair the blood-brain barrier.

摘要

重要性

卒中样发作预示着线粒体脑肌病伴乳酸酸中毒和卒中样发作综合征的病情进展及严重残疾。精氨酸被广泛用作卒中样发作的治疗药物,尽管几乎没有证据支持这种干预措施。我们讨论了一名线粒体脑肌病伴乳酸酸中毒和卒中样发作的患者出现卒中样发作时的管理情况。

观察结果

在引发卒中样发作的癫痫发作期间,神经元被迫利用糖酵解作为三磷酸腺苷的来源。糖酵解副产物对神经元具有损害作用。血脑屏障的破坏导致血管源性水肿。

结论

卒中样发作的治疗应包括在发作间期使用抗惊厥药物以预防癫痫发作,在发作期使用地塞米松以帮助修复血脑屏障。

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Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS.大脑血流灌注过多和脑血管反应性降低与线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)的神经系统疾病严重程度相关。
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