https://scholars.lib.ntu.edu.tw/handle/123456789/620383
標題: | Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome | 作者: | Fan, Sung-Pin HSUEH-WEN HSUEH HSIN-CHIEH HUANG Chang, Koping NI-CHUNG LEE PEI-HSIN HUANG Yang, Chih-Chao |
關鍵字: | CPEO-plus syndrome; Heteroplasmy; MR spectroscopy; Mitochondrial myopathy | 公開日期: | 九月-2021 | 卷: | 24 | 來源出版物: | eNeurologicalSci | 摘要: | 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/620383 | ISSN: | 24056502 | DOI: | 10.1016/j.ensci.2021.100360 |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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