Brain metabolism in patients with Tuberous Sclerosis Complex

Motivation: To better understand the underlying pathophysiology of brain lesions in patients with tuberous sclerosis complex (TSC). Goal(s): To apply both conventional and spectrally-edited MR spectroscopic imaging (MRSI) to patients with TSC, and to quantify metabolite levels in lesions and normal-appearing brain. Approach: Anatomical MRI and high-resolution MRSI was performed in 9 subjects with TSC at 3T. Spectra were quantified in lesions and normal appearing brain. Results: Lesion metabolite levels expressed relative to total creatine showed significant decreases in GABA+ , tNAA and tCho (p < 0.05) compared to normal-appearing white matter. The ratio of GABA+/Glx was also significantly lower in lesions (p = 0.03). Impact: These preliminary data in 9 subjects suggest that TSC lesions are characterized by neuronal loss or dysfunction, and possible neurotransmitter imbalance. Future work is required to relate these findings to neurological symptoms, including seizure frequency and cognitive impairment.