Visual Journey through Tuberous Sclerosis Complex: Multisystem Imaging Insights
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.
Fields of Study & Subjects
Tuberous Sclerosis Complex Research
Vascular Malformations and Hemangiomas
Renal cell carcinoma treatment
Publication details
- Journal / source
- Swiss Journal of Radiology and Nuclear Medicine
- Volume
- 27
- Issue
- 1
- Pages
- 43–54
- Publication date
- 30 January 2026
- Language
- EN