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线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)患者中出现类似短暂性脑缺血发作(TIA)但无卒中样病灶。

Transient ischemic attack-like episodes without stroke-like lesions in MELAS.

机构信息

Division of Neurology, Kanagawa Children's Medical Center, Mutsukawa 2-138-4, Minami-ku, Yokohama, Kanagawa, 232-8555, Japan.

出版信息

Pediatr Radiol. 2013 Oct;43(10):1400-3. doi: 10.1007/s00247-013-2661-x. Epub 2013 May 16.

DOI:10.1007/s00247-013-2661-x
PMID:23677422
Abstract

A stroke-like episode is a core symptom in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Proton magnetic resonance spectroscopy (1H-MRS) is useful in the diagnosis of mitochondrial diseases. We report an 8-year-old girl with MELAS, presenting with a seizure and blindness. 1H-MRS showed a strikingly elevated lactate peak in the right occipital region, where no abnormal signals appeared on either T2-W or diffusion-weighted MRI. She recovered completely within a day. We describe this mild clinical condition with abnormal lactate peak in normal-appearing gray matter as a transient ischemic attack-like episode in MELAS.

摘要

发作样事件是线粒体肌病、脑病、乳酸酸中毒和卒中样发作(MELAS)的核心症状。质子磁共振波谱(1H-MRS)有助于线粒体疾病的诊断。我们报告了一例 8 岁 MELAS 女孩,表现为癫痫发作和失明。1H-MRS 显示右侧枕叶区域的乳酸峰显著升高,而 T2-W 或弥散加权 MRI 上均无异常信号。她在一天内完全恢复。我们将这种在外观正常的灰质中出现异常乳酸峰的轻度临床情况描述为 MELAS 中的短暂性脑缺血发作样事件。

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本文引用的文献

1
MELAS and L-arginine therapy: pathophysiology of stroke-like episodes.MELAS 和 L-精氨酸治疗:中风样发作的病理生理学。
Ann N Y Acad Sci. 2010 Jul;1201:104-10. doi: 10.1111/j.1749-6632.2010.05624.x.
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Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanisms.线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)中卒中样发作的发病机制:神经血管细胞机制分析
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Magnetic resonance spectroscopy in patients with MELAS.线粒体脑肌病伴乳酸血症和卒中样发作患者的磁共振波谱分析
早期发育大脑、新生儿脑病及神经代谢障碍的氢磁共振波谱分析
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Diagnosis and management of MELAS.线粒体脑肌病伴乳酸血症和卒中样发作的诊断与管理
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Transient ischemic attack--proposal for a new definition.短暂性脑缺血发作——关于新定义的提议。
N Engl J Med. 2002 Nov 21;347(21):1713-6. doi: 10.1056/NEJMsb020987.
6
Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS.线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)患者脑代谢紊乱的定量质子磁共振波谱分析
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