Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Purpose Magnetic resonance spectroscopy (MRS) is a diagnostic tool used to detect abnormal accumulation of lactate in the brain parenchyma in various metabolic diseases. This study evaluated the clinical roles of brain MRS in the initial assessment of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) caused by impairment of the mitochondrial respiratory chain. Methods Twenty-five patients with the A3243G mutation among 34 MELAS patients referred to the pediatric neurology clinic of Gangnam Severance Hospital between January 2006 and December 2020 were included. In this retrospective study, demographic, clinical, laboratory (serum lactate and lactate-to-pyruvate ratio), magnetic resonance imaging (MRI), and initial MRS (presence of lactate peak and abnormal N-acetylaspartate [NAA]) data were reviewed. Results Brain MRI showed cortical lesions in 24 of 25 genetically confirmed A3243G MELAS patients with neurologic symptoms in this study. On MRS, 18 patients (72%) had increased lactate peaks, depicting anaerobic energy metabolism, and 17 patients (68%) had decreased NAA levels, indicating neuronal integrity. Ten patients underwent MRS in the acute stage (within 2 weeks of symptoms). Unlike patients who underwent MRS more than 2 weeks after symptom onset, a lactate peak on MRS was observed in all patients in the acute stage (P=0.011). Conclusion Elevated lactate peaks in acute cerebral infarctions are highly suggestive of mitochondrial encephalopathy. MRS alone is insufficient to diagnose MELAS, but it is valuable as a noninvasive supplemental diagnostic tool in combination with genetic testing.