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

Area of Science:

• Genetics and Molecular Biology
• Medical Imaging
• Pediatric Neurology

Background:

• Tuberous sclerosis complex (TSC) exhibits diverse patterns of organ involvement.
• Understanding genotype-specific disease expression is crucial for managing TSC.

Purpose of the Study:

• To investigate differences in multiorgan involvement between TSC1 and TSC2 genotypes using imaging.
• To elucidate the disease expression profile of TSC based on genetic mutations.

Main Methods:

• Retrospective analysis of 112 pediatric patients with TSC.
• Evaluation of clinical, imaging, and genetic data for brain, heart, and kidney involvement.
• Comparison of organ involvement patterns between TSC1 and TSC2 mutations.

Main Results:

• No significant differences in cerebral or cardiac involvement between TSC1 and TSC2 mutations.
• Elevated risk of renal angiomyolipoma and renal cysts in patients with TSC2 mutations (p < 0.001 and p = 0.003, respectively).
• Predominant phenotypes include isolated brain involvement and combined brain-heart-kidney involvement.

Conclusions:

• Multisystem imaging heterogeneity in pediatric TSC is significant.
• Co-occurrence analysis aids in predicting disease evolution.
• Findings inform long-term clinical management strategies for TSC patients.