B. Kruse et al., ALTERATIONS OF BRAIN-METABOLITES IN METACHROMATIC LEUKODYSTROPHY AS DETECTED BY LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY IN-VIVO, Journal of neurology, 241(2), 1993, pp. 68-74
The brain morphology and chemistry of seven children with late infanti
le (4/7) and juvenile (3/7) forms of metachromatic leukodystrophy (MLD
) were investigated by magnetic resonance imaging (MRI) and localized
proton magnetic resonance spectroscopy (MRS). Patients who were examin
ed at least 6 months after the onset of symptoms (6/7) had severe leuk
odystrophic changes on MRI. Proton MRS revealed a marked reduction of
the neuronal marker N-acetylaspartate in white and grey matter and ele
vated lactate in demyelinated areas. In contrast to other leukodystrop
hies MLD patients showed a generalized increase of brain myo-inositol
(2- to 3-fold in white matter), indicating a specific role in the path
ophysiology of demyelination in MLD.