Visual Journey through Tuberous Sclerosis Complex: Multisystem Imaging Insights

Authors

  • Thiagarajan Veerappan Barnard Institute of Radiology, Madras Medical College, Chennai, Tamil Nadu, India
  • Geetha Ganesan Barnard Institute of Radiology, Madras Medical College, Chennai, Tamil Nadu, India
  • Kalpana Sivalingam Barnard Institute of Radiology, Madras Medical College, Chennai, Tamil Nadu, India

DOI:

https://doi.org/10.59667/sjoranm.v27i1.20

Keywords:

Tuberous sclerosis complex, Subependymal giant cell astrocytoma (SEGA), Renal angiomyolipoma, Lymphangioleiomyomatosis (LAM), Cardiac rhabdomyoma, Neurocutaneous syndrome

Abstract

Tuberous sclerosis complex (TSC) is a rare genetic disorder affecting several systems, characterized by hamartomatous lesions in the brain, kidneys, lungs, skin, and bones. Imaging plays a pivotal role in diagnosis and management. We report a case series of four patients exhibiting diverse clinical manifestations who received multimodality imaging from 2022 to 2024. The imaging findings were aligned with clinical and diagnostic criteria established by the 2012 International TSC Consensus guidelines. The cases had distinctive radiological characteristics of TSC, encompassing subependymal nodules, subependymal giant cell astrocytomas (SEGAs), renal angiomyolipomas, pulmonary cystic changes suggestive of lymphangioleiomyomatosis (LAM), cutaneous lesions, and skeletal anomalies. Cross-sectional imaging demonstrated the multisystem manifestations of TSC and guided endovascular treatment of a renal pseudoaneurysm in one patient. The series highlights the significance of a thorough imaging strategy in recognizing both typical and incidental characteristics of TSC. Prompt identification enables swift diagnosis, focused treatment, and long term surveillance.

Author Biographies

  • Thiagarajan Veerappan, Barnard Institute of Radiology, Madras Medical College, Chennai, Tamil Nadu, India

    Junior Resident, M.D.

  • Geetha Ganesan, Barnard Institute of Radiology, Madras Medical College, Chennai, Tamil Nadu, India

    Associate Professor, M.D.

  • Kalpana Sivalingam, Barnard Institute of Radiology, Madras Medical College, Chennai, Tamil Nadu, India

    Professor & Director, M.D., D.N.B., E.D.I.R.

References

1. Domínguez-Valdez LF, Hernández-Utrera JE, Chávez-Sánchez IN, et al. Late diagnosis of tuberous sclerosis: a case report. Oxf Med Case Reports. 2023;2023(4):omad029. Published 2023 Apr 20. https://doi.org/10.1093/omcr/omad029 DOI: https://doi.org/10.1093/omcr/omad029

2. Dzefi-Tettey K, Edzie EK, Gorleku P, Piersson AD, Cudjoe O. Tuberous Sclerosis: A Case Report and Review of the Literature. Cureus. 2021;13(1):e12481. Published 2021 Jan 4. https://doi.org/10.7759/cureus.12481 DOI: https://doi.org/10.7759/cureus.12481

3. Cao Y, Zhang H, Wang F, Zhu D, Liao M. Case Report Radiological appearance of tuberous sclerosis complex: a case report and review of literature. Int J Clin Exp Med. 2017;10(5):8282-8287. https://e-century.us/files/ijcem/10/5/ijcem0050976.pdf

4. Manoukian SB, Kowal DJ. Comprehensive imaging manifestations of tuberous sclerosis. AJR Am J Roentgenol. 2015;204(5):933-943. https://doi.org/10.2214/AJR.13.12235 DOI: https://doi.org/10.2214/AJR.13.12235

‌5. Alshoabi SA, Hamid AM, Alhazmi FH, et al. Diagnostic features of tuberous sclerosis complex: case report and literature review. Quant Imaging Med Surg. 2022;12(1):846-861. https://doi.org/10.21037/qims-21-412 DOI: https://doi.org/10.21037/qims-21-412

6. Kharrazi MH, Haghighatkhah HR, Noori M, Taheri MS. Intracranial Manifestations of Tuberous Sclerosis: A Pictorial Essay. Iranian Journal of Radiology. 2008;5(4):221-230. https://brieflands.com/journals/ijradiology/articles/79011.pdf

7. Gupta P, Kukreja R, Mital M, Rathee N. A case series of tuberous sclerosis complex: Clinico-radiological study and review of the literature. West African Journal of Radiology. 2017;24(1):109. https://doi.org/10.4103/1115-3474.198155 DOI: https://doi.org/10.4103/1115-3474.198155

8. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics. 2008;28(7):e32. https://doi.org/10.1148/rg.e32 DOI: https://doi.org/10.1148/rg.e32

9. Stein JR, Reidman DA. Imaging Manifestations of a Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis. Case Rep Radiol. 2016;2016:3750450. https://doi.org/10.1155/2016/3750450 DOI: https://doi.org/10.1155/2016/3750450

10. Passeri HR, Reis F, Luciano, Chwal BC, Duarte JÁ. Imaging of central nervous system manifestations of Tuberous Sclerosis: a current pictorial review for an “old” disease. Brazilian Journal of Health Review. 2023;6(2):8127-8144. https://doi.org/10.34119/bjhrv6n2-294 DOI: https://doi.org/10.34119/bjhrv6n2-294

‌11. Fujii H, Sato N, Kimura Y, et al. MR Imaging Detection of CNS Lesions in Tuberous Sclerosis Complex: The Usefulness of T1WI with Chemical Shift Selective Images. AJNR Am J Neuroradiol. 2022;43(8):1202-1209. https://doi.org/10.3174/ajnr.A7573 DOI: https://doi.org/10.3174/ajnr.A7573

12. Aden M, Fawzi MO, Prosser D, et al. Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar. Saudi Med J. 2024;45(11):1245-1252. https://doi.org/10.15537/smj.2024.45.11.20240444 DOI: https://doi.org/10.15537/smj.2024.45.11.20240444

13. Radhakrishnan R, Verma S. Clinically relevant imaging in tuberous sclerosis. J Clin Imaging Sci. 2011;1:39. https://doi.org/10.4103/2156-7514.83230 DOI: https://doi.org/10.4103/2156-7514.83230

14. Garg P, Sharma A, Rajani H, Choudhary AR, Meena R. Tuberous sclerosis complex: The critical role of the interventional radiologist in management. SA J Radiol. 2021;25(1):2034. Published 2021 Mar 30. https://doi.org/10.4102/sajr.v25i1.2034 DOI: https://doi.org/10.4102/sajr.v25i1.2034

15. Jawaid B, Qureshi AH, Ahmed N, Yaqoob N. Bilateral renal angiomyolipomas in tuberous sclerosis. African Journal of Urology. 2021;27(1). https://doi.org/10.1186/s12301-021-00161-x DOI: https://doi.org/10.1186/s12301-021-00161-x

16. Ritter DM, Fessler BK, Ebrahimi-Fakhari D, et al. Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex. Orphanet J Rare Dis. 2022;17(1):124. Published 2022 Mar 15. https://doi.org/10.1186/s13023-022-02277-x DOI: https://doi.org/10.1186/s13023-022-02277-x

17. von Ranke FM, Faria IM, Zanetti G, Hochhegger B, Souza AS Jr, Marchiori E. Imaging of tuberous sclerosis complex: a pictorial review. Radiol Bras. 2017;50(1):48-54. https://doi.org/10.1590/0100-3984.2016.0020 DOI: https://doi.org/10.1590/0100-3984.2016.0020

18. Wang MX, Segaran N, Bhalla S, et al. Tuberous Sclerosis: Current Update. Radiographics. 2021;41(7):1992-2010. https://doi.org/10.1148/rg.2021210103 DOI: https://doi.org/10.1148/rg.2021210103

19. Franz DN, Krueger DA. mTOR inhibitor therapy as a disease modifying therapy for tuberous sclerosis complex. Am J Med Genet C Semin Med Genet. 2018;178(3):365–73. https://doi.org/10.1002/ajmg.c.31655 DOI: https://doi.org/10.1002/ajmg.c.31655

20. Northrup H, Aronow ME, Bebin EM, et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol. 2021;123:50-66. https://doi.org/10.1016/j.pediatrneurol.2021.07.011 DOI: https://doi.org/10.1016/j.pediatrneurol.2021.07.011

21. Gupta N, Finlay GA, Kotloff RM, et al. Lymphangioleiomyomatosis Diagnosis and Management: High-Resolution Chest Computed Tomography, Transbronchial Lung Biopsy, and Pleural Disease Management. An Official ATS/JRS Clinical Practice Guideline. Am J Respir Crit Care Med. 2017;196(10):1337-1348. https://doi.org/10.1164/rccm.201709-1965ST DOI: https://doi.org/10.1164/rccm.201709-1965ST

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Published

2026-01-30

Data Availability Statement

Data required for this study may be made available by the author(s) upon reasonable request.

Issue

Vol. 27 No. 1 (2026)

Section

Case reports

License

Copyright (c) 2026 Thiagarajan Veerappan, Geetha Ganesan, Kalpana Sivalingam

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

This license requires that reusers give credit to the creator. It allows reusers to distribute, remix, adapt, and build upon the material in any medium or format, even for commercial purposes.

How to Cite

Veerappan, T., Ganesan, G., & Sivalingam, K. (2026). Visual Journey through Tuberous Sclerosis Complex: Multisystem Imaging Insights. Swiss Journal of Radiology and Nuclear Medicine, 27(1), 43-54. https://doi.org/10.59667/sjoranm.v27i1.20

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