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.

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Publication Details

Journal
Applied Sciences
Published
2025-11-25
DOI
https://doi.org/10.3390/app152312486
Primary Topic
Tuberous Sclerosis Complex Research
Type
article
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article

Cortical Tuber Types in Tuberous Sclerosis Complex: Need for New MRI-Based Classification System Incorporating Changes in Susceptibility Weighted Imaging

Maria Fulvia de Leva, Camilla Russo, Antonio Varone, Eugenio Maria Covelli et al.
Applied Sciences
Tuberous Sclerosis Complex Research
article

Cortical Tuber Types in Tuberous Sclerosis Complex: Need for New MRI-Based Classification System Incorporating Changes in Susceptibility Weighted Imaging

Maria Fulvia de Leva, Camilla Russo, Antonio Varone, Eugenio Maria Covelli, Simone Coluccino, Carmela Russo, Stefania Graziano, Domenico Cicala, Giuseppe Cinalli, Adriana Cristofano
article en

Abstract

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.

Applied SciencesVol. 15(23)
Santobono Children's Hospital (IT)
Openalex Percentile: Top 55%
Tuberous Sclerosis Complex Research
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