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

作者：Mukai Masako^*; Nagata Eiichiro; Mizuma Atsushi; Yamano Mitsuhiko; Sugaya Keizo; Nishino Ichizo; Goto Yu ichi; Takizawa Shunya

来源：Internal Medicine, 2017, 56(1): 95-99.

DOI：10.2169/internalmedicine.56.7301

• MELAS
• stroke-like episodes
• MT-ND3
• adult onset
• m.10158T > C mutation

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.

• 出版日期2017