A patient diagnosed with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) in ICU

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• The 26-year-old man was sent to the hospital emergency room with sudden epilepsy. He underwent CPR, endotracheal intubation, and mechanical ventilation. • The head CT scan showed a slightly low-density focus in the cortex of the right occipital lobe. There were several abnormal signal foci with a diameter of 0.4-0.8cm in the right occipital cortex, with a slightly low signal on T1W1, slightly high signal on T2W1 and FLARE, and strengthened signal by the enhanced scanning. ASL perfusion imaging showed that the rCBF（24.21）of the right occipital lobe was lower than the rCBF(38.1) of the left. • Hyperlactatemia may be caused by both mitochondrial metabolic disorders and ischemia-reperfusion injury. The turning point in facilitating diagnosis was a chill. The lactic acid abruptly increased to 19mmol/l at the onset of the chill and returned to normal after the chill. • After nutritional support, functional exercise, levocarnitine, butylphthalide, coenzyme Q10.etc, the patient's condition improved. We report a case of a man with mitochondrial encephalomyopathy、lactic acidosis and stroke-like episodes（MELAS）. Case presentation : The 26-year-old man was sent to the hospital emergency room with sudden epilepsy, and then suffered cardiac and respiratory arrest. He underwent CPR, endotracheal intubation, and mechanical ventilation. Imaging examination revealed a lesion in the right occipital lobe, accompanied by hyperlactatemia during the course of the disease. . The nature of the intracranial lesions was discussed with no results. After the sudden chills, the lactic acid increased sharply, and the blood samples were sent for genetic testing on MELAS. The blood genetic test of the patient revealed a mutation m3243A>G, in the MT-TL1 gene, related to MELAS syndrome. The patient improved clinically and did not show any data associated with occipital lobe-related neurological symptoms and recurrent epilepsy. For patients with sudden onset of epilepsy and hyperlactatemia, dynamic observation of intracranial lesions and lactate levels is very important, and emergency, critical care, and neurology physicians may need to think about the possibility of MELAS to avoid missed diagnosis and misdiagnosis.