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线粒体脑肌病伴乳酸血症和卒中样发作综合征与大脑主要动脉的可逆性血管收缩

MELAS and reversible vasoconstriction of the major cerebral arteries.

作者信息

Yoshida Takeshi, Ouchi Atsushi, Miura Daisuke, Shimoji Kunihiro, Kinjo Kazushi, Sueyoshi Takeshi, Jonosono Manabu, Rajput Vijay

机构信息

Department of Neurology, Okinawa Chubu Hospital, Japan.

出版信息

Intern Med. 2013;52(12):1389-92. doi: 10.2169/internalmedicine.52.0188.

DOI:10.2169/internalmedicine.52.0188
PMID:23774553
Abstract

A 26-year-old woman was admitted due to an altered mental status and generalized tonic-clonic seizures. She had experienced chronic migraine-like headaches, progressive bilateral hearing loss, a short stature and nephrotic syndrome. Laboratory data showed elevated lactate and pyruvate levels. Brain MRI using diffusion-weighted imaging revealed a hyperintense lesion in the left temporal lobe. MR angiography revealed segmental stenosis at the C1 and M1-2 junction. A genetic study revealed a mitochondrial DNA A3243G point mutation. The patient's clinical symptoms and MRI/MR angiography (MRA) findings improved within four weeks. We herein discuss the possible pathophysiology involving both stroke-like episodes and reversible vasoconstriction.

摘要

一名26岁女性因精神状态改变和全身性强直阵挛发作入院。她曾经历慢性偏头痛样头痛、进行性双侧听力丧失、身材矮小和肾病综合征。实验室数据显示乳酸和丙酮酸水平升高。使用弥散加权成像的脑部MRI显示左颞叶有一个高信号病变。磁共振血管造影显示C1和M1-2交界处节段性狭窄。基因研究发现线粒体DNA A3243G点突变。患者的临床症状以及MRI/磁共振血管造影(MRA)结果在四周内有所改善。我们在此讨论涉及类中风发作和可逆性血管收缩的可能病理生理学。

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