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.
References
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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.
References
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- 3. Vanclooster S, Bissell S, van Eeghen AM, Chambers N, De Waele L, Byars AW, et al. The research landscape of tube-rous sclerosis complex–associated neuropsychiatric disor-ders (TAND)—a comprehensive scoping review. J Neurodev Disord. 2022; 14(1):13.
- 4. Islam MP. Tuberous Sclerosis Complex. Semin Pediatr Neu-rol. 2021; 37:100875.
- 5. Bouzroud W, Tazzite A, Ibenbrahim Y, Gazzaz B, Dehbi H. Tuberous Sclerosis Complex: Clinical Case Presentation and Literature Review. IJRE. 2022; 5(2):48-53.
- 6. Bouzroud W, Berrada S, Ibenbrahim Y, Maarouf F, Tazzite A, Dehbi H. Neurological manifestations in Tuberous Scle-rosis Complex. IJRE. 2022; 5(1):1027–1034.
- 7. Randle SC. Tuberous Sclerosis Complex: A Review. Pediatr Ann. 2017; 46(4):166-171.
- 8. Zhang L wen, Chen T. Tuberous Sclerosis Complex. J Cutan Med Surg. 2023; 27(6):674–674.
- 9. Fujii H, Sato N, Kimura Y, Mizutani M, Kusama M, Sumito-mo N, et al. MR Imaging Detection of CNS Lesions in Tube-rous Sclerosis Complex: The Usefulness of T1WI with Che-mical Shift Selective Images. AJNR Am J Neuroradiol. 2022; 43(8):1202–9.
- 10. Ding Y, Wang J, Zhou Y, Yu L, Zhang L, Zhou S, et al. Quality of life in children with tuberous sclerosis complex: A pediat-ric cohort study. CNS Neurosci Ther. 2021; 27(3):280–8.
- 11. Papadakis M, Hadley G, Xilouri M, Hoyte LC, Nagel S, McMenamin MM, et al. Tsc1 (hamartin) confers neuropro-tection against ischemia by inducing autophagy. Nat Med. 2013; 19(3):351–7.
- 12. Alshoabi SA, Hamid AM, Alhazmi FH, Qurashi AA, Abdulaal OM, Aloufi KM, et al. Diagnostic features of tuberous scle-rosis complex: case report and literature review. Quant Imaging Med Surg. 2022; 12(1):846–61.
- 13. Datta AN, Hahn CD, Sahin M. Clinical Presentation and Diagnosis of Tuberous Sclerosis Complex in Infancy. J Child Neurol. 2008; 23(3):268–73.
- 14. Mizuguchi M, Ohsawa M, Kashii H, Sato A. Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treat-ment. Int J Mol Sci. 2021; 22(13):66-77.
- 15. Castillo M, Whaley RA, Point SW, Black JA. Gyriform enhan-cement in tuberous sclerosis simulating infarction. Radio-logy. 1999; 185(2):613–4.
Details
| Primary Language | English |
|---|---|
| Subjects | Radiology and Organ Imaging |
| Journal Section | Research Article |
| Authors | |
| Early Pub Date | March 10, 2025 |
| Publication Date | March 26, 2025 |
| Submission Date | November 24, 2024 |
| Acceptance Date | January 6, 2025 |
| Published in Issue | Year 2025 Volume: 22 Issue: 1 |
Harran Üniversitesi Tıp Fakültesi Dergisi / Journal of Harran University Medical Faculty