A Case of MELAS Syndrome Diagnosed in a Woman in Her 50s.
- Author:
Yoonoo HWANG
1
;
Jae Ho JEONG
;
Yu Seok KIM
;
Jungje CHO
;
Woo Je LEE
;
Joong Yeol PARK
;
Ki Up LEE
Author Information
1. Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. kulee@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
MELAS syndrome;
Diabetes mellitus;
Cardiomyopathy;
Acidosis, lactic
- MeSH:
Acidosis, Lactic;
Cardiomyopathies;
Diabetes Mellitus;
DNA, Mitochondrial;
Female;
Hearing Loss, Sensorineural;
Humans;
Lactic Acid;
MELAS Syndrome;
Middle Aged;
Mitochondrial Diseases;
Mitochondrial Encephalomyopathies;
Muscular Diseases;
Seizures
- From:Korean Journal of Medicine
2011;80(2):225-230
- CountryRepublic of Korea
- Language:Korean
-
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.
