LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY OF CEREBRAL METABOLIC DISTURBANCES IN CHILDREN WITH NEURONAL CEROID-LIPOFUSCINOSIS

Cerebral metabolic abnormalities in five children with infantile (1), late infantile (1), and juvenile (3) neuronal ceroid lipofuscinosis (N CL) were noninvasively assessed by localized proton magnetic resonance spectroscopy (MRS). Infantile NCL was characterized by a complete los s of N-acetylaspartate (NAA, neuronal marker), a marked reduction of c reatines (Cr) and choline-containing compounds (Cho), and an elevation of myo-inositol (Ins, glial marker) and lactate (Lac) in both gray an d white matter. Reduced NAA and elevated Lac were also detected in gra y and white matter of late infantile NCL, but in this case not only In s but also Cr and Cho were increased in white matter. In contrast to t he infantile forms, juvenile NCL exhibited normal metabolic profiles. In one patient disease progression was indicated by reduced NAA. and C r in gray matter in a follow-up study after four years. The present fi ndings in NCL NCL are consistent with irreversible and generalized neu roaxonal loss as well as alterations of white matter glia similar to t hose found in leukodystrophies. The severity of metabolic disturbances correlates with clinical symptoms and decreasing age of onset.