A case of MELAS syndrome.
- Author:
Soo Jong HONG
;
Jung Yeon SHIM
;
Young Seo PARK
;
Hyung Nam MOON
;
Chang Yee HONG
;
Jeong Hee CHO
- Publication Type:Original Article
- Keywords:
Mitochondrial myopathy or encephalomyopathy;
MELAS syndrome;
Ragged-red fiber
- MeSH:
Basal Ganglia;
Biopsy;
Child;
Dysarthria;
Headache;
Humans;
Lactic Acid;
Magnetic Resonance Imaging;
Male;
MELAS Syndrome*;
Mitochondria;
Mitochondrial Encephalomyopathies;
Seizures;
Thalamus;
Vomiting;
Walking
- From:Journal of the Korean Pediatric Society
1993;36(3):394-402
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
MELAS syndrome is a rare but distinct clinical entity belonging to a group of mitochondrial encephalomyopathies characterized by the tetrad of mitochondrial myopathy, encephalopathy, 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 48 mg/dl. MRI findings showed high signal intensities T2-weighted image and low signal intensities in T1-weighted image in the right thalamus and parietooccipital lobe and bilateral symmetric high signal intensity in T1-dweighted image in the basal ganglia. We have seen the dispersed ragged-red fibers with modified Gomori trichrome staining on light microscope, and abundant and dysmorphic mitochondria on electon microscope in the specimen of muscle biopsy. esis of SLE.
