Clinical proton MR spectroscopy of neurodegenerative disease in childhood.

PURPOSE To determine the contribution of MR spectroscopy in the assessment of childhood neurodegenerative disease. METHODS Fifty-one subjects (7 weeks to 17 years of age), 22 with either hereditary (n = 16) or acquired (n = 6) neurodegenerative disorders and 29 age-matched control subjects, were studied with combined proton MR spectroscopy and MR imaging. Single-voxel (2.0-8.0 cc) MR spectra were acquired at 1.5 T, with either short-echo-stimulated echoes and/or long-echo spin echoes. RESULTS MR spectra exhibited signals from n-acetyl-, creatine-, and choline-containing compounds, neurotransmitters (glutamate), intracellular mediators (inositols), and glycolytic products (lactate). Abnormal MR spectra in neurodegenerative disorders reflected: demyelination, neuronal loss, and gliosis (increased mobile lipid presence and reduction of n-acetylaspartate to choline); metabolic acidosis (lactate accumulation); and neurotransmitter neurotoxicity (increased glutamate, glutamine, and inositols). CONCLUSION Proton MR spectroscopy may complement MR imaging in diagnostic assessment and therapeutic monitoring of neurodegenerative disorders.