Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome

• Published in: eNeurologicalSci Vol. 24; p. 100360
• Main Authors: Fan, Sung-Pin, Hsueh, Hsueh-Wen, Huang, Hsin-Chieh, Chang, Koping, Lee, Ni-Chung, Huang, Pei-Hsin, Yang, Chih-Chao
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01-09-2021; Elsevier
• Subjects: Case Report; CPEO-plus syndrome; Heteroplasmy; Mitochondrial myopathy; MR spectroscopy; CPEO-plus syndrome; Mitochondrial myopathy; Heteroplasmy; MR spectroscopy
• ISSN: 2405-6502; 2405-6502
• DOI: 10.1016/j.ensci.2021.100360

A 25-year-old man complained of progressive diplopia and limb weakness for 3 years. Mitochondrial myopathy was suspected according to clinical presentation, elevated serum lactate concentration, and muscle histopathology. However, next-generation mtDNA sequencing (mtDNA NGS) of the blood only revealed a likely benign variant in the MT-CO1 gene (m.6510G > A). An mtDNA NGS study on the muscle sample revealed a large mtDNA deletion (m.5788–m.16071). The patient was diagnosed as having CPEO-plus syndrome related to the large mtDNA deletion. Notably, magnetic resonance spectroscopy revealed a doublet peak at 1–2 ppm in his edematous right vastus lateralis, which indicated lactate accumulation. Thus, muscle imaging and appropriate genetic tests facilitated the diagnosis of mitochondrial myopathy.
•Heteroplasmy underlies various presentations of mitochondrial disorders.•Adequate genetic testing in affected tissue with deep phenotyping•MRS could detect a lactate accumulation in mtDNA deletion syndrome.