Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease.
BACKGROUND
Krabbe disease (globoid cell leukodystrophy [GLD]) is an autosomal recessive lysosomal disorder affecting the central and peripheral nervous system. The authors performed MRS to characterize metabolic alterations and their regional variation in brain tissue in GLD in vivo.


METHODS
Abnormalities of cerebral metabolite concentrations were assessed in seven patients with biochemically proven GLD-four with infantile, two with juvenile, and one with adult subtype-using quantitative localized proton MRS of standardized brain regions.


RESULTS
In infantile GLD, pronounced elevation of both myo-inositol and choline-containing compounds in affected white matter reflected demyelination and glial proliferation. The accompanying decrease of N-acetylaspartate pointed to neuroaxonal loss. Gray matter showed similar, albeit much milder alterations. In juvenile GLD, MRS indicated astrocytosis with minor neuroaxonal damage in white matter. In a patient with adult GLD, results of MRS of affected white matter were close to normal. MRS data are in agreement with histopathologic features of GLD.


CONCLUSIONS
Proton MRS provides a powerful tool for assessing metabolic disturbances and the extent of brain damage noninvasively in GLD.
Brockmann
K
K
Department of Pediatrics and Neuropediatrics, Georg-August-University, Göttingen, Germany. kbrock@med.uni-goettingen.de
Dechent
P
P
Wilken
B
B
Rusch
O
O
Frahm
J
J
Hanefeld
F
F
D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism*; D001479:Basal Ganglia / Q000378:metabolism; D001921:Brain / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism*; D003404:Creatinine / Q000378:metabolism; D004151:Dipeptides / Q000378:metabolism; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007294:Inositol / Q000378:metabolism*; D007773:Lactates / Q000378:metabolism; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000378:metabolism*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D010296:Parietal Lobe / Q000378:metabolism / Q000473:pathology; D010725:Phosphocreatine / Q000031:analogs & derivatives* / Q000378:metabolism
D004151:Dipeptides; D007773:Lactates; D010725:Phosphocreatine; C027172:isospaglumic acid; D001224:Aspartic Acid; D007294:Inositol; C025403:phosphocreatinine; C000179:N-acetylaspartate; D003404:Creatinine; D002794:Choline