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

Masako Mukai; Eiichiro Nagata; Atsushi Mizuma; Mitsuhiko Yamano; Keizo Sugaya; Ichizo Nishino; Yu-ichi Goto; Shunya Takizawa

doi:10.2169/internalmedicine.56.7301

CASE REPORTS

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

Masako Mukai, Eiichiro Nagata, Atsushi Mizuma, Mitsuhiko Yamano, Keizo Sugaya, Ichizo Nishino, Yu-ichi Goto, Shunya Takizawa

Author information

Masako Mukai
Department of Neurology, Tokai University School of Medicine, Japan
Eiichiro Nagata
Department of Neurology, Tokai University School of Medicine, Japan
Atsushi Mizuma
Department of Neurology, Tokai University School of Medicine, Japan
Mitsuhiko Yamano
Department of Neurology, Tokai University School of Medicine, Japan
Keizo Sugaya
Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan
Ichizo Nishino
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan
Yu-ichi Goto
Medical Genome Center, National Center of Neurology and Psychiatry, Japan
Shunya Takizawa
Department of Neurology, Tokai University School of Medicine, Japan

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

JOURNAL OPEN ACCESS

2017 Volume 56 Issue 1 Pages 95-99

DOI https://doi.org/10.2169/internalmedicine.56.7301

Details

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.

Corresponding author

Register with J-STAGE for free!