Age-Related Changes in a Patient With Pelizaeus-Merzbacher Disease Determined by Repeated 1H-Magnetic Resonance Spectroscopy

Purpose:
In this report, we describe a patient with Pelizaeus-Merzbacher disease (PMD) who underwent repeated evaluations by 1H-Magnetic resonance spectroscopy (MRS).
Subject:
The patient was given a definitive diagnosis of PMD based on genetic testing, which showed overlap of the proteolipid protein 1 (PLP1) gene. The control subjects for 1H-MRS consisted of healthy age-matched children.
Methods:
All measurements were performed with a clinical 3-tesla magnetic resonance imaging (MRI) system. For 1H-MRS, the center of a voxel was positioned in the right parietal lobe. 1H-MRS was performed when the patient was 2, 6, 14, and 25 months old.
Results:
The concentration of GABA in early childhood (2 months 1.72 mM, 6 months 2.15 mM) was increased compared with that in normal controls. However, his GABA concentration was normalized at 14 and 25 months. The concentrations of Ins were increased after 6 months. No remarkable changes were seen in the concentration of Cho at any time.
Conclusion
These results suggest that the changes in metabolite concentrations during growth may reflect the pathological state of PMD. Furthermore, the lack of a change in the Cho concentration may be useful for differentiating PMD from other demyelinating diseases.

Tatsuo Mori, Kenji Mori, Hiromichi Ito, Aya Goji, Masahito Miyazaki, Masafumi Harada, Kenji Kurosawa, Shoji Kagami, Age-Related Changes in a Patient With Pelizaeus-Merzbacher Disease Determined by Repeated 1H-Magnetic Resonance Spectroscopy, Journal of Child Neurology Volume: 29 issue: 2) pp. 283-288. Copyright © 2013 SAGE Publications. DOI: 10.1177/0883073813499635.