Magnetic resonance spectroscopy and magnetic resonance imaging findings in Krabbe's disease.
Two twins with late infantile globoid cell leukodystrophy of Krabbe's disease were studied with conventional magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy. Brain MRI demonstrated brain atrophy with extensive bilateral symmetric abnormal T2 signal in the posterior periventricular white matter, parietal lobes, corona radiata, centrum semiovale, and splenium of the corpus callosum. Magnetic resonance imaging-guided proton magnetic resonance spectroscopy revealed prominent peaks from choline-containing compounds, total creatine, and inositols. The N-acetylaspartate peak was markedly reduced, and the choline-to-N-acetylaspartate ratio was abnormally high; in one of the twins, lactic acid was also detected. The constellation of magnetic resonance spectroscopy findings is indicative of extensive demyelination, gliosis, and loss of axons in the involved white matter; the latter two events occur in the later stages of globoid cell leukodystrophy. In conjunction with brain MRI, these magnetic resonance spectroscopy findings may alert clinicians to the possibility of leukodystrophy in children with progressive encephalopathy.
Zarifi
M K
MK
Department of Radiology, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Tzika
A A
AA
Astrakas
L G
LG
Poussaint
T Y
TY
Anthony
D C
DC
Darras
B T
BT
D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000032:analysis / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D002794:Choline / Q000031:analogs & derivatives / Q000032:analysis; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D014430:Twins, Monozygotic
D001224:Aspartic Acid; C000179:N-acetylaspartate; D002794:Choline