Thoracoabdominal imaging of tuberous sclerosis

Area of Science:

• Radiology
• Medical Imaging
• Genetics

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder affecting multiple organs.
• Neurological symptoms and associated neuroimaging findings are hallmarks of TSC.
• Active surveillance for TSC-related abnormalities in chest, abdomen, and pelvis is essential in children.

Purpose of the Study:

• To review the spectrum of imaging findings in tuberous sclerosis complex.
• To focus on Magnetic Resonance (MR) imaging findings in the chest, abdomen, and pelvis.
• To highlight common and rarer associations requiring radiologist consideration.

Main Methods:

• Review of current literature and imaging modalities for tuberous sclerosis complex.
• Focus on Magnetic Resonance (MR) imaging techniques.
• Analysis of common findings like renal angiomyolipomas and pulmonary lymphangioleiomyomatosis.

Main Results:

• Imaging of TSC has evolved significantly with improved understanding and treatments.
• Kidney angiomyolipomas and chest lymphangioleiomyomatosis are common findings requiring surveillance.
• Radiologists must consider rarer TSC associations during imaging interpretation.

Conclusions:

• Comprehensive imaging surveillance is vital for managing tuberous sclerosis complex.
• MR imaging plays a key role in evaluating TSC-related abnormalities in the chest, abdomen, and pelvis.
• Awareness of the full spectrum of TSC imaging findings improves patient care.