MRI characteristics of cerebellar tubers and their longitudinal changes in children with tuberous sclerosis complex

Cerebellar tubers have been recognized as a feature of tuberous sclerosis complex (TSC), but the evolution of cerebellar tubers with brain maturation remains unclear. The aim of this study was to assess the evolution of MRI characteristics of cerebellar tubers in children with TSC longitudinally.

The MRI features of cerebellar tubers including number, location, shape, enhancement, presence of hemorrhage, calcifications, retraction, and the longitudinal changes of these features were assessed in children with TSC.

Cerebellar tubers were seen in 69/193 (35.8%) cases. Cerebellar tubers were wedge shaped, nodular, or demonstrated folia distortion; 33/101 (32.7%) cerebellar tubers showed enhancement, 29/101 (28.7%) showed calcification, and 75/101 (74.3%) had retraction abnormality. No lesion showed hemorrhage. One hundred fifty-two of our patients had more than one MRI examinations and were followed for a mean of 5.3 years from the time of their first MRI till their last study. Of those with follow-up MRI, 53 patients had cerebellar tubers; 15/53 (28.3%) patients and 20/101 (19.8%) of the cerebellar tubers demonstrated an increase in size, enhancement, or calcification longitudinally. The majority of the increase in size, enhancement, or calcification occurred in the first 8 years of life. None of the cerebellar tubers showed a reduction in size or enhancement. There was no new cerebellar tuber.

We have found an increase in size, enhancement, and calcification of cerebellar tubers which occurred mainly in the first 8 years of life. Further study that correlates the genetics and clinical manifestation with more advanced imaging of the cerebellar tubers may help us understand the underlying neurobiology of the changes in cerebellar tubers.