Diffusional Kurtosis Imaging Assessment of Tuberous Sclerosis Complex

INTRODUCTION: Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease that, as a result of dominant mutations of TSC1 and TSC2 genes, causes tumors/lesions to grow in various organs. In the central nervous system, TSC is predominantly characterized by cortical/subcortical tubers which are responsible for the seizures (90%) and mild to severe developmental delays found in TSC [1]. Although tuber lesions are presumed to contribute to epileptogenesis in TSC, a few studies have identified “silent’” tubers with active surrounding perilesion tissue that appear normal on conventional MRI images [2, 3]. In this preliminary study, we aim to quantitatively characterize the in-vivo microstructure of tuber lesions (L) as compared to perilesion (P) tissue and normal appearing contralateral (C) perilesion tissue using metrics derived from Diffusional Kurtosis Imaging (DKI) [4, 5]. To our knowledge, this is the first study to apply DKI in TSC. Investigation of DKI in this cohort provides an additional incentive as there is extensive literature on the histology of resected TSC tuber lesions and perilesion tissue, thus allowing in-vivo DKI metric values to be directly associated with morphological human cell properties in-vitro.