: 1H-MR spectroscopic and SPECT findings in a patient with MELAS syndrome confirmed by molecular genetic analysis.
- Author:
Chul Hee CHOI
1
;
Hyun Sook KIM
;
Hyo Suk NAM
;
Won Seok OH
;
Byung Ok CHOI
;
Seung Min KIM
;
Byung In LEE
;
Eun Sook PARK
;
Eun Kee JEONG
;
Dong Ik KIM
Author Information
1. Department of Neurology, College of Medicine, Yonsei University.
- Publication Type:Original Article
- Keywords:
MELAS syndrome;
proton MR spectroscopy;
SPECT;
molecular genetics;
lactate;
mitochondria
- MeSH:
Aspartic Acid;
Biopsy;
Brain;
Diagnosis;
DNA, Mitochondrial;
Female;
Humans;
Lactic Acid;
Magnetic Resonance Spectroscopy;
MELAS Syndrome*;
Mitochondria;
Molecular Biology*;
Neuroimaging;
Occipital Lobe;
Pathology;
Perfusion;
Point Mutation;
Protons;
Rabeprazole;
Seizures;
Steam;
Tomography, Emission-Computed, Single-Photon*
- From:Journal of the Korean Neurological Association
1998;16(4):590-596
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
An eighteen-year-old girl presented recurrent partial and generalized seizures associated with the T-2 high signal intensities of MR brain imaging. Serum and CSF lactate levels were elevated. Muscle biopsy revealed "ragged red fiber" . The diagnosis of MELAS was confirmed by molecular genetic analysis showing 3,243 mtDNA point mutation. Localized proton MR spectroscopy was performed on a GE 1.5 T SIGNA MRI/MRS system and analyzed by STEAM (Stimulated Echo Acquisition Method). 1H-MR spectrocopy demonstrated elevation of lactate contents and decrease of N-acetyl aspartate contents in the involed area. The Tc99m-ECD SPECT revealed multifocal decrease of perfusion in bilateral parietal, temporal and occipital lobe, especially right temporal and left occipital lobe. These features suggest that the pathology of brain lesions of MELAS syndrome may be sub-necrotic incomplete ischemic changes caused by metabolic derangement.
