Cerebellar Volume in Tuberous Sclerosis Complex

I’m pleased to write that my last paper at Harvard Medical School is in press in the Journal of Pediatrics. In the course of working on Heidi Als’s studies of ex-preterm adolescents, it became clear that pure template-fusion segmentation algorithms could go horribly awry in the face of missing or atrophied structures, but that a hybrid template-fusion/intensity segmentation algorithm, such as my own, could do nicely. Simultaneously, we were working with Mustafa Sahin’s tuberous sclerosis patients and I noticed occasional cerebellar atrophy.

Putting two and two together, with a good deal of help from Jurriaan Peters, Peter Tsai, and genotype data supplied by Kira Dies, we noticed a reduction in cerebellar volume in the subgroup of patients whose tuberous sclerosis was explained by a known pathogenic mutation in TSC2. The finding was short and straightforward, but the paper reviews some evidence from the literature that indicate, roughly, why this might have occurred and, I believe, link these together for the first time.