Summary

Intern Med. 2017;56(1):95-99. doi: 10.2169/internalmedicine.56.7301. Epub 2017 Jan 1.

Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.

Abstract:

The clinical features of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are not uniform. We herein report a male patient with unusual MELAS-like encephalopathy who had been experiencing isolated recurrent stroke-like episodes since he was 33 years old without any particular family history. Despite an extensive investigation, he had no other signs suggestive of MELAS. Although the muscle pathology showed a normal appearance, a mitochondrial genome sequence analysis of the biopsied muscle revealed a heteroplasmic m.10158T>C mutation in the mitochondrial complex I subunit gene, MT-ND3. To prevented further deterioration of the higher brain function, the early diagnosis and treatment of mitochondrial stroke-like episodes is important.

日本語要旨:

ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群は、臨床症状が一定していないことが特徴である。33歳男性で家族歴がなく、脳卒中発作を繰り返していた。この患者の生検筋から抽出したDNAに対して、ミトコンドリアゲノム解析を行ったところComplexIのサブユニットをコーディングするMTND3上のm.10158T>C変異を検出した。 高次機能障害の進行を妨ぐには、迅速な診断と適切な治療介入が必要である。

PMID:  28050007

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