Tuberous sclerosis complex (TSC) is a rare, genetic disease. It causes tumors in the brain, kidneys, eyes, heart, liver, lungs, and skin. About 50% of affected babies have infantile spasms due to poor neurological outcomes. The risk of this sudden onset epilepsy syndrome involves a tuber burden. This study aims to associate infantile spasms with tuber location and connectivity.

The prospective, observational study had a cohort of 123 TSC children. The babies were divided into two groups of 74 kids with infantile spasms, and 49 without. The spasm and tuber location association was tested using the voxel-wise lesion-symptom mapping. The lesion network mapping was used to associate spasms and connectivity with tuber locations. Logistical regression, statistical mediation, and cross-validation techniques discriminated the identified associations.

Infantile spasms were associated with heterogeneous tuber locations. There was no significant single location. But more than 95% of spasm-related locations were connected functionally to cerebellar vermis and globus pallidi. Compared to tuber patients without spasms, these connections were specific. Repeated cross-validation found the tests useful with a mean ROC under the curve in the 0.63 to 0.81 range.

The tuber location connectivity with bilateral globus pallidi is associated with infantile spasm. The pathophysiology findings offer new insight into identifying patients at spasm risk.

Ref: https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.26015