The goal of our study was to: determine the incidence of cerebellar lesions in a cohort of children and young adults with TSC, and analyze the magnetic resonance imaging (MRI) findings of cerebellar TSC lesions including their contrast behavior and diffusion characteristics.

MRI studies of 27 TSC patients (mean age, 10.6 years) were evaluated for: cortical/subcortical tubers, white matter lesions, subependymal nodules, and giant cell astrocytomas. Patients with cerebellar involvement were further analyzed for the imaging and diffusion characteristics. ADC measurements of the cerebellar tubers were performed and compared with the contralateral normal appearing cerebellum. The clinical charts were revisited for symptoms suggesting cerebellar involvement.

Cerebellar tubers were seen in 8/27 patients, cerebellar atrophy in 1/27 patients. Cerebellar tubers showed a pyramidal/wedge appearance with a broad base reaching the cortex. The majority of the cerebellar tubers (11/12, 92%) showed a “zebra-like” contrast enhancement. All cerebellar tubers had increased ADC values (mean ADC 1472×10⁻⁶ mm²/s). None of the patients had “typical” cerebellar symptoms.

Thirty-three percent of TSC patients had cerebellar lesions, most of them being cerebellar tubers. Cerebellar tubers differ from supratentorial tubers both concerning shape and contrast behavior. The exact etiology of contrast enhancement remains unclear. Future studies have to determine the impact of cerebellar lesions on neurocognitive development.