Neuroradiologic Findings Associated with Tuberous Sclerosis Complex: A Comprehensive Analysis of 24 Cases

Abstract

Background: This study aims to comprehensively analyze the radiological findings of 24 TSC patients to determine the radiological profile of the disease and potential diagnostic and therapeutic imp-lications. Materials and Methods: This retrospective study was approved by the Ethics Committee of Harran University. A total of 24 genetically diagnosed TSC patients who underwent brain MRI between 2020-2024 were included. Imaging was performed using a 3 Tesla MRI scanner, employing T2 IDEAL, 3D T1 VIBRANT, and contrast-enhanced T1 sequences. Data were analyzed using IBM SPSS Statistics software, focusing on demographic characteristics and radiological findings. Results: The study included 24 TSC patients (14 males, 10 females) with a mean age of 8.43±10.24 years (range: 1-46 years). Cortical/subcortical tubers and subependymal hamartomas were identi-fied in all patients (100%). Radial bands were observed in 83.3%, infarctions in 50%, and corpus callosum dysgenesis in 41.6%. Subependymal giant cell astrocytoma (SGCA) was present in 12.5% of cases, while arachnoid cysts were noted in 20.8%. Conclusions: This study revealed a higher CNS involvement rate in TSC patients compared to the literature, with a higher prevalence among male patients. These findings emphasize the importan-ce of detailed radiological and clinical evaluations in understanding the disease. Changes in radio-logical findings with age and disease progression can contribute to optimizing treatment protocols.

Keywords

• Tuberous Sclerosis Complex
• Central Nervous System Involvement
• Radiological Findings

Tüberoskleroz Kompleksi ile İlişkili Nöroradyolojik Bulgular: 24 Vakanın Kapsamlı Analizi

Abstract

Amaç: Bu çalışmanın amacı, 24 TSC hastasının radyolojik bulgularını detaylı bir şekilde inceleyerek hastalığın radyolojik profilini ve klinik sonuçlarla olan ilişkisini ortaya koymaktır. Materyal ve Metod: Bu retrospektif çalışma, Harran Üniversitesi Etik Kurulu tarafından onaylanmış-tır. Çalışma kapsamında 2020-2024 yılları arasında hastanemizde genetik olarak TSC tanısı konmuş ve beyin MR görüntülemesi yapılmış 24 hasta incelenmiştir. Görüntüleme, 3 Tesla MR cihazı ile gerçekleştirildi. T2 IDEAL, 3D T1 VIBRANT ve kontrastlı T1 sekansları kullanılarak radyolojik bulgular değerlendirildi. Elde edilen veriler, IBM SPSS Statistics yazılımı ile demografik özellikler ve radyolo-jik bulgular açısından analiz edilmiştir. Bulgular: Çalışmaya 24 TSC hastası (14 erkek, 10 kadın) dahil edilmiştir. Hastaların yaş ortalaması 8,43±10,24 yıl olup, yaşlar 1 ile 46 arasında değişmektedir. Tüm hastalarda kortikal/subkortikal tüberler ve subependimal hamartomlar saptanmıştır (%100). Radial band %83,3, infarkt %50, kor-pus kallozum disgenezi %41,6 oranında tespit edilmiştir. Ayrıca, 3 hastada subependimal dev hücre-li astrositom (SGCA) (%12,5) ve 5 hastada araknoid kist (%20,8) görülmüştür. Sonuç: Çalışmamızda TSC’nin CNS tutulum oranının literatürden yüksek olduğu ve özellikle erkek hastalarda daha sık görüldüğü tespit edilmiştir. Bu bulgular, TSC’nin radyolojik ve klinik özellikleri-nin daha iyi anlaşılması ve hastalık yönetimi için önem taşımaktadır. Radyolojik bulguların yaş ve hastalık süresi ile değişimi, tedavi protokollerinin optimize edilmesine katkı sağlayabilir.

Keywords

• Tübüloz Skleroz Kompleksi
• Merkezi Sinir Sistemi Tutulumu
• Radyolojik Bulgular

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