MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis.
OBJECTIVE
Late juvenile neuronal ceroid lipofuscinosis (NCL) is a lysosomal neurodegenerative disorder caused by the accumulation of lipopigment in neurons. Our purpose was to characterize the MR imaging and spectroscopic 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 calculated 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 showed a hypointense thalamus and hyperintense periventricular white matter. Proton MR spectra revealed progressive changes, with a reduction of NAA and an increase of myo-inositol and glutamate/glutamine. In long-standing late infantile NCL, myo-inositol became the most prominent resonance. Lactate was not detectable.


CONCLUSIONS
MR imaging in combination with proton MR spectroscopy can facilitate the diagnosis of late infantile NCL and help to differentiate NCL from other neurometabolic disorders, such as mitochondrial or peroxisomal encephalopathies.
Seitz
D
D
Department of Neuroradiology, University of Tübingen, Germany.
Grodd
W
W
Schwab
A
A
Seeger
U
U
Klose
U
U
Nägele
T
T
D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D001921:Brain / Q000378:metabolism / Q000473:pathology; D001927:Brain Diseases / Q000175:diagnosis; D016022:Case-Control Studies; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology; D002552:Cerebral Ventricles / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000032:analysis; D003401:Creatine / Q000032:analysis; D003937:Diagnosis, Differential; D005260:Female; D018698:Glutamic Acid / Q000032:analysis; D005973:Glutamine / Q000032:analysis; D006801:Humans; D007294:Inositol / Q000032:analysis; D007773:Lactates / Q000032:analysis; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D018901:Peroxisomal Disorders / Q000175:diagnosis; D013788:Thalamus / Q000378:metabolism / Q000473:pathology
D007773:Lactates; D005973:Glutamine; D001224:Aspartic Acid; D018698:Glutamic Acid; D007294:Inositol; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline