A Case of MELAS Syndrome |
1, 1, 1, 1, 1, 2 |
|
MELAS 증후군 1례 |
홍수종1, 심정연1, 박영서1, 문형남1, 홍창의1, 조정희2 |
|
|
|
Abstract |
MELAS syndrome is a rae but distinct clinical entity belonging to a group of mitochondrial encephalomyopathies characterized by the tetrad of mitochondrial myopathy, encephalopaphy, lactic acidosis, and stroke-like episodes. We experienced a case of MELAS syndrome in an 8 year-old boy who showed headache, pain of the eyeball, vomiting, stroke-like episodes such as visual disturbance and dysarthria, myoclonic seizure, confusion, and walking disturbance. His serum lactate level was elevated up to 48mg/dl. MRI findings showed high signal intensities in T2-weighted image and low signal intensities in T1-weighted image in the 갸롯 thalamus and parietooccipital lobe and bilateral symmetric high signal intensity in T1-weighted image in the basal ganglia. We have seen the dispersed ragged-red fibers with modified Gomori trichrome stining on light microscope, and abundant and dysmorphic mitochondria on electon microscope in the specimen of muscle biopsy. |
Key Words:
Mitochondrial myopathy or encephalomyopathy, MELAS syndrome, Ragged-red fiber |
|