Cerebellar tubers in tuberous sclerosis complex: MRI characteristics and longitudinal evolution in a pediatric and young adult cohort

Abstract Background Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterized by the development of benign tumors across multiple organ systems. While supratentorial cerebral manifestations are well documented, infratentorial involvement, particularly cerebellar tubers, remains less explored. This study aimed to evaluate the prevalence, imaging characteristics, and longitudinal changes of cerebellar tubers in patients with TSC. Methods A retrospective analysis was conducted on 61 pediatric and young adult patients diagnosed with TSC who underwent brain MRI between 2005 and 2023. MR imaging included standard sequences such as T1WI, T2WI, FLAIR, DWI, ADC mapping, SWI, and post-contrast T1WI. All scans were independently reviewed by three experienced neuroradiologists (each one with 15 years of experience); they were blinded to clinical data. Results Cerebellar tubers were identified in 29 out of 61 patients (47.5%), totaling 50 lesions. The most common morphology was wedge-shaped (96%). Signal intensity varied across sequences: T1 hypointense (92%), T2 hyperintense (86%), and FLAIR mixed patterns (variable). Enhancement after contrast administration was observed in 6% of tubers (striated pattern), and calcifications were present in 14%. Retraction deformities adjacent to tubers were noted in 48% of cases. Patients with cerebellar tubers had significantly more cerebral tubers than those without (mean: 29 vs 22; p < 0.001). Follow-up MRI in 13 patients (mean follow-up: 5.3 years) showed stability in 84.6%, slight regression in 7.7%, and progression in 7.7%. Conclusions Cerebellar tubers are relatively common in TSC and exhibit distinct morphological and signal characteristics. These lesions demonstrate dynamic behavior over time, correlating with supratentorial abnormalities and potentially influencing neurobehavioral outcomes. Awareness of these features can aid in early diagnosis and long-term monitoring.