MRI and localized proton MRS in early infantile form of neuronal ceroid-lipofuscinosis

A patient with early infantile neuronal ceroid-lipofuscinosis was examined by magnetic resonance imaging (MRI) and image-guided localized proton MR spectroscopy of brain using short-stimulated echo times. T2-weighted MRI revealed generalized cerebral atrophy and a reduction in signal intensity in thalamus and striatum associated with the presence of hyperintense white matter. The proton MR spectrum is characterized by an unusual increase of the inositol and taurine signals and by a reduction in the level of N-acetyl-aspartate contrasting with the presence of signals from glutamate-glutamine. The presence of a resonance from N-acetyl-methyl protons of N-acetyl-glucosamine (2.04 ppm) borne by dolichol is discussed.