通过线粒体DNA检测诊断出的无破碎红纤维或乳酸性酸中毒的线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）。

MELAS without ragged red fibers or lactic acidosis diagnosed by mitochondrial DNA testing.

作者信息

Ujike H, Wakagi T, Kohira I, Kuroda S, Otsuki S, Sato T

机构信息

Department of Neuropsychiatry, Okayama University Medical School, Japan.

出版信息

Jpn J Psychiatry Neurol. 1993 Sep;47(3):637-41. doi: 10.1111/j.1440-1819.1993.tb01810.x.

DOI:10.1111/j.1440-1819.1993.tb01810.x

PMID:8301880

Abstract

A case of mitochondrial encephalomyopathy with lactic acidosis, a stroke-like episode (MELAS) without ragged red fiber, diagnosed by mitochondrial DNA testing, is reported. A 37-year-old woman experienced a sudden and recurrent headache with vomiting and stroke-like episodes. Brain CT and MRI showed multiple infarction in the temporal lobes, not corresponding to artery distribution. However, the plasma levels of lactate and pyruvate were normal, and showed no increased after aerobic exercise. Biopsied muscle showed no evidence of ragged red fibers and deficient activity of mitochondrial enzymes in the respiratory chain. The final diagnosis was made by mitochondrial DNA testing. A southern blot analysis after Apa I digestion revealed the A-to-G mutation in the tRNA(Leu(UUR)), which is specific to MELAS.

摘要

报告了一例经线粒体DNA检测确诊的无破碎红纤维的线粒体脑肌病伴乳酸酸中毒和卒中样发作（MELAS）。一名37岁女性突发反复头痛伴呕吐及卒中样发作。脑部CT和MRI显示颞叶多发梗死灶，不符合动脉分布。然而，血浆乳酸和丙酮酸水平正常，有氧运动后也未升高。肌肉活检未发现破碎红纤维证据，呼吸链中线粒体酶活性不足。最终诊断通过线粒体DNA检测做出。Apa I消化后的Southern印迹分析显示tRNA（Leu（UUR））存在A到G突变，这是MELAS特有的。