50대에 진단된 MELAS 증후군 1예
A Case of MELAS Syndrome Diagnosed in a Woman in Her 50s
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초록
저자들은 10년 이상 당뇨병으로 치료받던 52세 여자가 고혈당과 의식저하로 내원하여 치료하던 중 MELAS 증후군으로 진단받은 증례를 경험하였기에 문헌고찰과 함께 보고하는 바이다. MELAS 증후군은 매우 드문 질환이며 대부분이 40세 이전에 진단된다. 하지만 당뇨병을 가진 환자가 혈관 질환으로 설명할 수 없는 뇌졸중 유사증상과 원인 모를 젖산혈증이 있으며 감각신경성 난청의 병력, 모계 유전 당뇨병의 가족력 등이 있을 경우 비록 나이가 많더라도 MELAS 증후군의 가능성을 고려해 봐야 할 것이다.
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. (Korean J Med 2011;80:225-230)
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