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  • 1From the Department of Diagnostic Radiology, University of Texas MD Anderson Cancer Center, Pickens Academic Tower, 1400 Pressler St, Unit 1473, Houston, TX 77030-4009 (M.X.W., D.G.); Department of Radiology, Mayo Clinic Arizona, Scottsdale, Ariz (N.S.); Mallinckrodt Institute of Radiology, Section of Abdominal Imaging, Washington University School of Medicine, St Louis, Mo (S.B.); Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (P.J.P., M.G.L.); and Department of Radiology, University of Texas at San Antonio, San Antonio, Tex (V.S.K.).

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Summary
This summary is machine-generated.

Tuberous sclerosis complex (TSC) is a genetic disorder affecting multiple organs. Early diagnosis and surveillance through familiarizing radiologists with TSC imaging features are crucial for patient management.

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Area of Science:

  • Neurocutaneous disorders
  • Genetics
  • Oncology

Background:

  • Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder caused by mutations in TSC1 or TSC2 genes.
  • While classic symptoms aid diagnosis, multisystemic TSC manifestations are variable, necessitating awareness of diverse clinical presentations.
  • Patients with TSC face increased risks of benign and malignant tumors, impacting morbidity and mortality.

Purpose of the Study:

  • To review the molecular pathogenesis, clinical, and imaging features of Tuberous Sclerosis Complex (TSC).
  • To discuss current recommendations for TSC management and surveillance.
  • To emphasize the critical role of radiologists in diagnosing and managing TSC.

Main Methods:

  • Review of molecular pathogenesis of TSC.
  • Compilation of clinical manifestations associated with TSC.
  • Detailed analysis of imaging features of TSC across various organ systems.

Main Results:

  • Key TSC imaging findings include cortical dysplasia, subependymal nodules, cardiac rhabdomyomas, lymphangioleiomyomatosis, and angiomyolipomas.
  • Renal angiomyolipomas present diagnostic challenges, mimicking renal malignancy.
  • Other manifestations include dermatologic, ophthalmic, renal, pulmonary, and splenic abnormalities, alongside rare tumors.

Conclusions:

  • Familiarity with TSC's diverse manifestations and imaging features is essential for timely diagnosis and management.
  • Imaging plays a pivotal role in the diagnosis, surveillance, and management of patients with TSC.
  • Genetic testing can complement clinical and imaging findings for TSC confirmation.