Cortical Tuber Types in Tuberous Sclerosis Complex: Need for New MRI-Based Classification System Incorporating Changes in Susceptibility Weighted Imaging
Purpose: This study proposes a novel magnetic resonance (MRI)-based classification of cortical tubers (CTs) in tuberous sclerosis complex (TSC) patients that incorporates intralesional calcifications. We evaluated prevalence, temporal evolution, and genotype correlation of intra-tuberal calcifications in pediatric TSC patients, emphasizing susceptibility-weighted imaging (SWI) for detection. Materials and Methods: We retrospectively analyzed MRI scans of 57 unrelated pediatric TSC patients followed between 2014 and 2024 at a tertiary care center. Inclusion criteria included longitudinal imaging on the same 1.5T scanner, with T1w, T2w/FLAIR, and SWI sequences. CTs were classified into four MRI-based categories (A–D), with calcified tubers subdivided into micro-calcified and macro-calcified. Descriptive statistics, binomial tests, and Chi-square analyses were performed. Results: Calcified CTs were more prevalent than cystic ones. At baseline MRI, 63% of patients had calcified tubers (19% of all CTs), increasing to 77% at follow-up MRI (24% of all CTs). Micro-calcifications predominated at baseline MRI evaluation, though a significant proportion progressed to macro-calcifications over time. Calcified CTs always progressed from lower-grade lesions. Cystic tubers were rare (<1%). Longitudinal analysis showed significant variation in CTs with inner calcification count (p = 0.0000023), but not in CTs with cystic components (p = 0.42072). No significant genotype–radiological phenotype association emerged. Conclusions: Intralesional calcifications in CTs are dynamic and detectable with SWI. The inclusion of calcification patterns in CT classification could offer insights that may prove useful for future prognostic and risk-stratification frameworks in pediatric TSC.
Authors
- Maria Fulvia de Leva
- Camilla Russo (ORCID: https://orcid.org/0000-0002-2256-7281)
- Antonio Varone (ORCID: https://orcid.org/0000-0002-1994-6619)
- Eugenio Maria Covelli (ORCID: https://orcid.org/0000-0001-8285-9713)
- Simone Coluccino
- Carmela Russo (ORCID: https://orcid.org/0000-0003-1855-7571)
- Stefania Graziano
- Domenico Cicala (ORCID: https://orcid.org/0000-0002-5557-0508)
- Giuseppe Cinalli (ORCID: https://orcid.org/0000-0002-7797-8483)
- Adriana Cristofano (ORCID: https://orcid.org/0009-0002-6645-0066)
Institutions
- Santobono Children's Hospital (IT)
Publication Details
- Journal
- Applied Sciences
- Published
- 2025-11-25
- DOI
- https://doi.org/10.3390/app152312486
- Primary Topic
- Tuberous Sclerosis Complex Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00