A Case of MELAS Syndrome Diagnosed in a Woman in Her 50s / 대한내과학회지

ABSTRACT

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, abbreviated to MELAS, syndrome is a common mitochondrial disease that can present with a wide range of clinical symptoms, including seizures, stroke-like episodes, neuropathy, myopathy, sensorineural hearing loss, and encephalopathy. Although more than 90% of patients present with stroke-like episodes before the age of 40 years, some reports have described patients presenting later in life. Here, we report MELAS syndrome diagnosed in a 52-year-old Korean woman admitted because of altered mentality. She had a history of diabetes, sensorineural hearing loss, and cardiomyopathy. The patient's mentality fluctuated and her lactic acid level was elevated in the hospital. Although she was in her 50s, her medical history, encephalopathy, and lactic acidosis made us strongly suspect MELAS syndrome. The diagnosis was confirmed when a test showed the A3243G mitochondrial DNA mutation.