Investigation of quantitative susceptibility mapping in diagnosis of tuberous sclerosis complex and assessment of associated brain injuries at 1.5 Tesla.

Background And Aim: Tuberous sclerosis complex (TSC) is a rare disease with serious clinical consequences such as mental deficiency and epilepsy. The pathological changes of TSC include demyelination and subependymal calcified nodules. Quantitative susceptibility mapping (QSM) is a newly developed imaging technique which is capable of quantitatively measuring the susceptibility induced by iron deposition, calcification, and demyelination. The aim of this study was to investigate the use of QSM in detecting the subependymal nodules and assessing brain tissue injuries induced by cortical/subcortical tubers in TSC patients.

Materials And Methods: Twelve clinically confirmed TSC patients and fifteen gender- and age-matched healthy subjects underwent measurement with conventional magnetic resonance imaging (MRI) sequences, diffusion tensor imaging (DTI), and QSM. The TSC patients further underwent a computed tomography (CT) scan. Considering CT as the ground truth, the detection rates of subependymal nodules using conventional MRI and QSM were compared by the paired Chi-square test, and the sensitivity and specificity were computed. The Bland-Altman test and independent -test were performed to compare the susceptibility of cortical/subcortical regions from QSM and fractional anisotropy (FA) values from DTI between the patient and control groups, Pearson correlation was performed to examine the correlation between the susceptibility and FA values.

Results: QSM was better in detecting subependymal calcified nodules compared to conventional MR sequences ( =40.18, <0.001), QSM achieved a significantly higher sensitivity of 98.3% and a lower specificity of 50%, which was compared with conventional MR sequences (46.7% and 75%, respectively). The susceptibility value of cortical/subcortical tubers in TSC patients was significantly higher than those in the control group (=9.855, <0.001), while FA value was lower (=-8.687, <0.001). Pearson correlation test revealed a negative correlation between susceptibility and FA values in all participants (=-0.65, <0.001).

Conclusions: QSM had a similar ability in TSC compared to CT and DTI. QSM may provide valuable complementary information to conventional MRI imaging and may simplicity imaging of patients with TSC.

Relevance For Patients: This study shows the feasibility of QSM to detect subependymal calcified nodules. It may provide quantitative information of white matter damage of tuberous sclerosis patients.