A Case of Leigh Syndrome with Typical MRI and MRS Findings
Journal of the Korean Neurological Association
;
: 545-547, 2004.
Article
in Korean
| WPRIM
| ID: wpr-60339
ABSTRACT
Leigh syndrome (LS) is a genetically and clinically heterogeneous disorder caused by metabolic defects affecting lactate/pyruvate metabolism. The consequence of the metabolic defects are decreased amounts of APT and basic cell energy productions of the nervous system. In LS, several mutations have been reported in both the nuclear and the mitochondrial genome. Here, we report a 26-year-old woman clinically diagnosed with LS having characteristic brain MR and MRS abnormalities but without known definite pathogenetic mitochondrial DNA mutations.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Brain
/
DNA, Mitochondrial
/
Magnetic Resonance Imaging
/
Leigh Disease
/
Mitochondrial Diseases
/
Genome, Mitochondrial
/
Metabolism
/
Nervous System
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2004
Type:
Article
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