A Two Cases of MELAS in Siblings / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 138-146, 1997.
Article
in Korean
| WPRIM
| ID: wpr-57171
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Paresis
/
Biopsy
/
Acidosis, Lactic
/
DNA, Mitochondrial
/
Epilepsy, Generalized
/
Point Mutation
/
Mitochondrial Encephalomyopathies
/
MELAS Syndrome
/
Lactic Acid
/
Siblings
Limits:
Child
/
Humans
Language:
Korean
Journal:
Journal of the Korean Child Neurology Society
Year:
1997
Type:
Article
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