Yonsei Med J.  2010 Sep;51(5):672-675. 10.3349/ymj.2010.51.5.672.

Initial Experiences with Proton MR Spectroscopy in Treatment Monitoring of Mitochondrial Encephalopathy

• Lee SK
• Kim J
• Kim HD
• Lee JS
• Lee YM

• KMID: 1071417
• DOI: http://doi.org/10.3349/ymj.2010.51.5.672

Abstract

PURPOSE
Mitochondrial encephalopathy (ME) is a rare disorder of energy metabolism. The disease course can roughly be evaluated by clinical findings. The purpose of this study was to evaluate metabolic spectral changes using proton MR spectroscopy (MRS), and to establish a way to monitor ME by neuroimaging.
MATERIALS AND METHODS
Proton MRS data were retrospectively reviewed in 12 patients with muscle biopsy-confirmed ME (M : F = 7 : 5, Mean age = 4.8 years). All received 1H-MRS initially and also after a ketogenic diet and mitochondrial disease treatment cocktail (follow up average was 10.2 months). Changes of N-acetylaspartate/creatine (NAA/Cr) ratio, choline/creatine (Cho/Cr) ratio, and lactate peak in basal ganglia at 1.2 ppm were evaluated before and after treatment. Findings on conventional T2 weighted MR images were also evaluated.
RESULTS
On conventional MRI, increased basal ganglia T2 signal intensity was the most common finding with ME (n = 9, 75%), followed by diffuse cerebral atrophy (n = 8, 67%), T2 hyperintense lesions at pons and midbrain (n = 4, 33%), and brain atrophy (n = 2, 17%). Lactate peak was found in 4 patients; 2 had disappearance of the peak on follow up MRS. Quantitative analysis showed relative decrease of Cho/Cr ratio on follow up MRS (p = 0.0058, paired t-test, two-tailed). There was no significant change in NAA/Cr ratio.
CONCLUSION
MRS is a useful tool for monitoring disease progression or impro-vement in ME, and decrease or disappearance of lactate peak and reduction of Cho/Cr fraction were correlated well with improvement of clinical symptoms.

Keyword

Magnetic resonance spectroscopy; mitochondrial diseases

MeSH Terms

Adolescent
Child
Child, Preschool
Choline/metabolism
Creatine/metabolism
Female
Humans
Infant
*Magnetic Resonance Spectroscopy
Male
Mitochondrial Encephalomyopathies/*pathology
Retrospective Studies

Figure

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  Fig. 1 Two-year-old male with Leigh disease (case 2). Pre-treatment MRS shows high lactate peak (arrow) at basal ganglia. One year follow up MRS shows decrease of lactate (double arrows) and restoration of NAA. NAA, N-acetylaspartate.

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