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伴有枕叶癫痫持续状态的A3243G突变型线粒体脑肌病伴乳酸血症和卒中样发作综合征

MELAS with A3243G mutation presenting with occipital status epilepticus.

作者信息

Karkare Shefali, Merchant Sabiha, Solomon Gail, Engel Murray, Kosofsky Barry

机构信息

Division of Pediatric Neurology, New York Presbyterian Hospital (Cornell Campus), New York, New York, USA.

出版信息

J Child Neurol. 2009 Dec;24(12):1564-7. doi: 10.1177/0883073809334386. Epub 2009 Apr 29.

DOI:10.1177/0883073809334386
PMID:19406752
Abstract

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disorder commonly caused by the A3243G mutation. We report a patient who initially presented with visual hallucinations, headaches, and nonconvulsive status epilepticus originating in left occipital lobe who subsequently progressed to have multifocal seizures. His magnetic resonance imaging (MRI) showed subtle T2 hyperintensity at first presentation that subsequently fully resolved. He then had more typical diffusion restriction not conforming to vascular territories. Evolution of his neuroimaging and electroencephalogram (EEG) is discussed with a brief review of literature. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes should be suspected early with occipital lobe seizures.

摘要

线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)是一种常见由A3243G突变引起的线粒体疾病。我们报告了一名患者,其最初表现为视幻觉、头痛以及起源于左枕叶的非惊厥性癫痫持续状态,随后进展为多灶性癫痫发作。他的磁共振成像(MRI)在初次检查时显示轻微的T2高信号,随后完全消退。之后他出现了更典型的不符合血管分布区域的弥散受限。本文结合文献简要回顾,讨论了他的神经影像学和脑电图(EEG)的演变情况。对于枕叶癫痫发作,应早期怀疑线粒体脑肌病伴乳酸血症和卒中样发作。

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MELAS with A3243G mutation presenting with occipital status epilepticus.伴有枕叶癫痫持续状态的A3243G突变型线粒体脑肌病伴乳酸血症和卒中样发作综合征
J Child Neurol. 2009 Dec;24(12):1564-7. doi: 10.1177/0883073809334386. Epub 2009 Apr 29.
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[A case of MELAS presenting complex partial status epilepticus].[一例表现为复杂部分性癫痫持续状态的线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)病例]
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Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy.线粒体脑肌病伴乳酸酸中毒和卒中样发作,酷似枕叶特发性癫痫。
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An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype.一名患有线粒体A3243G突变且表现出线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)表型的婴儿。
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引用本文的文献

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Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease.线粒体疾病继发癫痫的发作症状学、脑电图及影像学表现
Front Neurol. 2021 Nov 29;12:779052. doi: 10.3389/fneur.2021.779052. eCollection 2021.
2
Rare Phenotypic Manifestations of MELAS.线粒体脑肌病伴乳酸血症和卒中样发作的罕见表型表现
Yonsei Med J. 2020 Oct;61(10):904-906. doi: 10.3349/ymj.2020.61.10.904.