Christine i. Dali1, Lars G. Hanson2, Jens Fogh3, Allan M. Lund1
1Dept. of Clinical Genetics, National University Hospital, Copenhagen, DK, Denmark; 2Radiology, Hvidovre Hospital, Hvidovre, DK, Denmark; 3Zymenex, Hilleroed, DK, Denmark
Thirteen children with late infantile MLD were examined by spectroscopic imaging. The NAA concentrations measured in a ROI from Semiovale are presented. The NAA signal vanishes as the disease progresses. The results from the motor function varied in raw score from 180, where the child is still able to walk, to 13, where the child can move the head in a lying position. The cognitive function showed severe impairment in all children, except in those still able to walk. We found a significant correlation between decreasing NAA spectra in the deep white matter and decreasing cognitive and motor function.