Proton MR spectroscopy in Lesch-Nyhan disease.

In vivo proton spectra for four patients with Lesch-Nyhan disease and four control subjects matched for age and sex were acquired from voxels (1.5 x 1.5 x 1.5 cm3) placed in the prefrontal cortex and striatum. The patients with Lesch-Nyhan disease had decreased metabolites, especially N-acetylaspartate and glutamate/glutamine, only in the prefrontal cortex as compared with the control group. These findings suggest axonal loss in the prefrontal area of this population. The cortical glutamate/glutamine peak decrement does not confirm cytopathologic studies of Lesch-Nyhan disease and deserves further investigation.