A Case of Leigh Syndrome with Typical MRI and MRS Findings.
- Author:
Jung Woo KANG
1
;
Jung Chan KIM
;
Phil Za CHO
;
Jeong Hee CHO
;
Seung Min KIM
;
Il Nam SUNWOO
Author Information
1. Department of Neurology, National Medical Center, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Leigh syndrome;
Mitochondrial disorders
- MeSH:
Adult;
Brain;
DNA, Mitochondrial;
Female;
Genome, Mitochondrial;
Humans;
Leigh Disease*;
Magnetic Resonance Imaging*;
Metabolism;
Mitochondrial Diseases;
Nervous System
- From:Journal of the Korean Neurological Association
2004;22(5):545-547
- CountryRepublic of Korea
- Language:Korean
-
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.
