Cerebellar lesions in children with tuberous sclerosis complex

Cerebellar lesions in tuberous sclerosis complex are less frequent than cerebral findings. We present the magnetic resonance (MR) features of uncommon cerebellar changes found in a large series of children with tuberous sclerosis complex (TSC). MR examinations of 73 children (38 males and 35 females) with TSC were reviewed. Twelve patients with cerebellar lesions were selected. Patients' ages ranged from 2.5 years to 21.25 (median: 10.6). The number, anatomic location, signal intensity and contrast enhancement of these lesions were evaluated. MR studies were performed with a 1.5 T scanner obtaining T1, T2-weighted images and FLAIR sequences. Gadolinium was administrated in all cases. Cerebellar tubers were found in 12 patients (16.4%). The total number of cerebellar tubers was 21. Most cerebellar tubers were hyperintense on T2-weighted and FLAIR images and slightly hypointense on T1-weighted images. Eleven of these lesions (52.38%) revealed contrast enhancement. None of cortical cerebral tubers showed contrast enhancement. Atrophy of seven cerebellar tubers was noticed. The mutation in TSC2 gene was confirmed in eight patients. Cerebellar tubers are uncommon. They were not found in the absence of cerebral tubers and may associated with parenchymal volume loss.