Multisystem Imaging Features and Organ Co-Occurrence in Children With Tuberous Sclerosis Complex

Significant differences exist in the patterns and timing of organ involvement in Tuberous sclerosis complex (TSC). We sought to analyze potential differences in multiorgan involvement between TSC1 and TSC2 genotypes based on imaging findings, thereby elucidating the disease expression profile of TSC.

This retrospective investigation encompassed 112 individuals diagnosed with tuberous sclerosis at a tertiary hospital in China between March 2020 and March 2025. Clinical presentations, imaging findings, and genetic data were analyzed to evaluate the involvement of the brain, heart, and kidneys in patients with TSC1 and TSC2 mutations.

Among 112 patients (median age 7.17 years; 60.7% male). No significant differences were observed in cerebral and cardiac involvement between TSC1 and TSC2 mutations (p > 0.05). However, patients with TSC2 mutations faced an elevated cumulative risk of renal angiomyolipoma (TSC2: 48.5% vs. TSC1: 11.4%, p < 0.001) and renal cysts (TSC2: 33.8% vs. TSC1: 9.1%, p = 0.003). The most frequent combined involvement patterns include brain-heart and brain-heart-kidney involvement, while isolated brain involvement was the predominant single-organ phenotype.

Multisystem imaging heterogeneity and co-occurrence analysis in pediatric tuberous sclerosis complex may facilitate the prediction of disease evolution and inform long-term clinical management.