Synthetic MRI in children with tuberous sclerosis complex

Area of Science:

• Neuroimaging
• Radiology
• Pediatric Neurology

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder causing benign tumors in various organs, including the brain.
• Conventional MRI (cMRI) is used to diagnose and monitor TSC, but Synthetic MRI (SyMRI) offers potential advantages in speed and quantitative data generation.
• Understanding the brain's structural and tissue characteristics in pediatric TSC is crucial for management.

Purpose of the Study:

• To evaluate the efficacy of SyMRI in detecting cortical tubers in pediatric TSC patients.
• To determine underlying tissue characteristics and morphometric alterations in the brains of pediatric TSC patients using SyMRI.
• To compare SyMRI with cMRI for tuber detection and quantitative analysis.

Main Methods:

• Prospective acquisition of cMRI and SyMRI scans from 10 pediatric TSC patients and 18 healthy controls (HCs).
• Independent evaluation of tubers by two neuroradiologists on both cMRI and SyMRI.
• Automated segmentation for volume calculation and myelin quantification in TSC patients, including tubers and normal-appearing brain parenchyma (NABP).

Main Results:

• SyMRI demonstrated a high correlation with cMRI in tuber detection (k = 0.82-0.94).
• TSC patients showed significantly altered brain parenchymal volumes and reduced myelin content compared to HCs.
• Significant changes in proton density, myelin fraction, and relaxation rates were observed in both NABP and subcortical tubers of TSC patients.

Conclusions:

• SyMRI is a viable tool for detecting cortical tubers in pediatric TSC.
• SyMRI enables quantitative assessment of morphometric and tissue alterations in pediatric TSC patients.
• SyMRI offers a rational scanning time, making it a promising developing tool for TSC management.