MR-IMAGING AND LOCALIZED PROTON MR SPECTROSCOPY IN LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS

PURPOSE: Late juvenile neuronal ceroid lipofuscinosis (NCL) is a lysos omal neurodegenerative disorder caused by the accumulation of lipopigm ent in neurons. Our purpose was to characterize the MR imaging and spe ctroscopic findings in three children with late infantile NCL. METHODS : Three children with late infantile NCL and three age-matched control subjects were examined by MR imaging and by localized MR spectroscopy using echo times of 135 and 5, Normalized peak integral values were c alculated for N-acetylaspartate (NAA), choline, creatine, myo-inositol , and glutamate/glutamine. RESULTS: MR imaging revealed volume loss of the CNS, most prominently in the cerebellum. The T2-weighted images s howed a hypointense thalamus and hyperintense periventricular white ma tter. Proton MR spectra revealed progressive changes, with a reduction of NAA and an increase of myo-inositol and glutamate/glutamine, In lo ng-standing late infantile NCL, myoinositol became the most prominent resonance. Lactate was not detectable. CONCLUSION: MR imaging in combi nation with proton MR spectroscopy can facilitate the diagnosis of lat e infantile NCL and help to differentiate NCL from other neurometaboli c disorders, such as mitochondrial or peroxisomal encephalopathies.