Multi-parametric diffusion spectrum imaging in tuberous sclerosis complex: Assessing cortical tubers and predicting genotypes

[Display omitted] •Advanced MRI diffusion models offer clearer visualization of cortical tubers, which helps clarify the causes of refractory epilepsy in TSC patients.•Integrating multiple diffusion model parameters for predicting TSC gene mutations can be an effective adjunct to conventional genetic testing.•The MRI multi-diffusion model, utilizing DSI technology, allows for precise cortical tuber identification and genotype prediction, reduces scan time, and demonstrates clinical feasibility. This study employed advanced MRI diffusion imaging techniques to identify cortical tubers in Tuberous Sclerosis Complex (TSC) patients and compared the diagnostic efficacy of various diffusion model parameters in predicting TSC genotypes. From July 2019 to April 2024, a prospective study was conducted at our Hospital. Participants meeting specific criteria underwent genetic testing and Diffusion Spectrum Imaging (DSI) data collection. The Dipy toolbox calculated parameters for Diffusion Tensor Imaging (DTI), Diffusion Kurtosis Imaging (DKI), Neurite Orientation Dispersion and Density Imaging (NODDI), and Mean Apparent Propagator (MAP) models. Lesion visibility and contrast were scored by two neuroradiologists. Significant parameters were identified through univariate logistic regression, and predictive models were developed using multivariate logistic regression and backward stepwise regression, resulting in a nomogram. Eighty-three TSC patients were included (49 females, median age 5 years, IQR 3–9 years). Significant differences were found in lesion visibility and contrast among different diffusion model parameter maps (p