Mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome (MELAS): a case report, presentation, and management.
Mitochondrial encephalopathy with lactic acidosis and stroke-like syndrome (MELAS) is a progressive neurodegenerative disorder frequently complicated by diabetes mellitus and sensory neuronal hearing loss. This syndrome tends to present initially with stroke-like symptoms. These strokes are nonvascular in nature and are linked to mitochondrial defect such as transient oxidative phosphorylation dysfunction, which in turn results in encephalopathy. The combination of lactic acidosis, multiple nonvascular strokes, encephalopathic psychosis, diabetes, and sensory neuronal hearing loss causes severe dysfunction leading to increased mental disabilities, physical disabilities, and eventually, death.
Patel
Ilaben Bhagubhai
IB
Department of Family and Community Medicine, 1005 Dr. D. B. Todd Jr. Boulevard, Nashville, TN, USA. ipatel@mmc.edu
Sidani
Mohamad
M
Zoorob
Roger
R
D000328:Adult; D001706:Biopsy; D004272:DNA, Mitochondrial / Q000235:genetics*; D003937:Diagnosis, Differential; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D017241:MELAS Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation
D004272:DNA, Mitochondrial