Age-related changes in a patient with Pelizaeus-Merzbacher disease determined by repeated 1H-magnetic resonance spectroscopy.
A boy with Pelizaeus-Merzbacher disease underwent repeated evaluations by 3-Tesla (1)H-magnetic resonance spectroscopy (MRS). The patient showed overlap of the PLP1. Individuals selected as normal controls for (1)H-magnetic resonance spectroscopy consisted of healthy age-matched children. For (1)H-magnetic resonance spectroscopy, the center of a voxel was positioned in the right parietal lobe. (1)H-magnetic resonance spectroscopy was performed when the patient was 2, 6, 14, and 25 months old. γ-Aminobutyric acid concentration in early childhood was increased compared with that in normal controls. However, the γ-aminobutyric acid concentration in the Pelizaeus-Merzbacher disease patient was normalized at 14 and 25 months. No remarkable changes were observed in choline-containing compounds concentration at any time. These results suggest that the changes in metabolite concentrations during growth can reflect the pathological condition of Pelizaeus-Merzbacher disease. Furthermore, the lack of change in the choline-containing compounds concentration can be useful for differentiating Pelizaeus-Merzbacher disease from other white matter disorders.
1Department of Pediatrics, Institute of Health Bioscience, The University of Tokushima Graduate School, Tokushima, Japan.
Tatsuo
T
Mori
Kenji
K
Mori
Hiromichi
H
Ito
Aya
A
Goji
Masahito
M
Miyazaki
Masafumi
M
Harada
Kenji
K
Kurosawa
Shoji
S
Kagami
D000375:Aging; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D016022:Case-Control Studies; D002675:Child, Preschool; D003401:Creatine / Q000378:metabolism; D018698:Glutamic Acid / Q000378:metabolism; D006801:Humans; D007223:Infant; D007294:Inositol / Q000378:metabolism; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D010296:Parietal Lobe / Q000254:growth & development* / Q000378:metabolism*; D020371:Pelizaeus-Merzbacher Disease / Q000378:metabolism*; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
D001224:Aspartic Acid; D018698:Glutamic Acid; D007294:Inositol; D005680:gamma-Aminobutyric Acid; C000179:N-acetylaspartate; D003401:Creatine
choline-containing compounds; dysmyelinating disorders; white matter disorders