A Two Cases of MELAS in Siblings.
- Author:
Yul Yi YEON
;
Byung Jun CHOI
;
Young Hoon KIM
;
Jong Wan KIM
;
Sung Sup PARK
;
Je Geun JI
;
Kyung Tai WHANG
- Publication Type:Original Article
- MeSH:
Acidosis, Lactic;
Biopsy;
Child;
DNA, Mitochondrial;
Epilepsy, Generalized;
Humans;
Lactic Acid;
MELAS Syndrome*;
Mitochondrial Encephalomyopathies;
Paresis;
Point Mutation;
Siblings*
- From:
Journal of the Korean Child Neurology Society
1997;5(1):138-146
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
MELAS is the condition associated with mutant mtDNA that most closely mimics thrombotic cerebrovascular disease. It is characterized by mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. These children develop short stature and either a focal or generalized seizure disorder. Ultimately, the patient presents with an acute hemiparesis that can alternate from side to side. In this article, we report the MELAS in siblings having point mutation in the mitochondrial DNA with an A to G transition at the 3,243rd position. MELAS is recognized as one of the several distinct syndromes containing cerebral infarct. And, mitochondrial DNA analyses, serum lactate level, and muscle biopsy are diagnostic clue of this syndrome.
