Mapping Brain Metabolites in Tuberous Sclerosis Complex: A 3T MR Spectroscopic Imaging Study

BACKGROUND AND PURPOSE: Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple organs, particularly the brain, and is associated with neurologic impairments such as cognitive deficits and seizures. There are relatively few prior studies investigating brain metabolites in TSC. The aim of this study was to investigate neurochemical alterations in TSC, focusing on cortical/subcortical glioneuronal tubers as well as normal-appearing regions, and comparing them with matched healthy control subjects. MATERIALS AND METHODS: -acetylaspartate (tNAA), choline (tCho), creatine (tCr), glutamate and glutamine (Glx) and myo-inositol (mI) in both tubers and normal-appearing brain regions in individuals with TSC and comparing them with those in control subjects. Metabolite ratios were also examined for correlation with age. RESULTS: < .05), and individuals with TSC did not exhibit age-related Glx/tCr decreases that were observed in controls in both GM and WM. CONCLUSIONS: Subtle, but significant metabolic abnormalities were found for subjects with TSC compared with healthy controls, both in tubers and in normal-appearing brain regions. The variation of metabolite levels as a function of age also differed between TSC and controls. These findings may provide information on the underlying pathophysiology of TSC, and future work is needed to investigate the relationships of these findings to neurologic symptoms, including seizures and cognitive impairment.