The pathogenesis and imaging of the tuberous sclerosis complex

Area of Science:

• Genetics and Pathophysiology
• Medical Imaging
• Neurocutaneous Syndromes

Background:

• Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder with complete penetrance but high phenotypic variability.
• It is the second most common neurocutaneous syndrome, characterized by hamartomatous lesions across multiple organ systems.
• Recent advances in TSC genetics and the mTOR pathway have significantly impacted disease management.

Purpose of the Study:

• To provide an update on the genetics and pathophysiology of TSC.
• To review the clinical manifestations of TSC.
• To explore the role of medical imaging in diagnosing, managing, and treating TSC.

Main Methods:

• Review of current literature on TSC genetics, pathophysiology, and clinical manifestations.
• Analysis of the diagnostic and therapeutic applications of medical imaging in TSC.
• Discussion of imaging features across various organ systems affected by TSC.

Main Results:

• TSC involves genetic loci discovered in the 1990s and interaction with the mTOR pathway.
• Clinical manifestations include skin lesions, brain lesions, angiomyolipomas (AMLs), lymphangiomyomatosis (LAM), cardiac rhabdomyomas, and skeletal/vascular anomalies.
• Medical imaging is crucial for prenatal detection, monitoring treatment (e.g., rapamycin therapy), and guiding interventions (e.g., for AMLs).

Conclusions:

• Understanding TSC genetics and pathophysiology, particularly the mTOR pathway, is key for effective management.
• Medical imaging plays an indispensable role throughout the TSC patient journey, from diagnosis to treatment.
• This review highlights the comprehensive utility of imaging in managing the diverse manifestations of TSC.