Tuberous Sclerosis Complex Demonstrated on 18 F-FDG PET/CT.

Area of Science:

• Medical Imaging
• Genetics
• Oncology

Background:

• Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disorder.
• TSC affects multiple organ systems, including the skin, eyes, brain, kidneys, heart, and lungs.
• Neurocutaneous disorders like TSC require comprehensive diagnostic approaches.

Purpose of the Study:

• To report the 18F-FDG PET/CT findings in a patient diagnosed with tuberous sclerosis complex.
• To illustrate the utility of 18F-FDG PET/CT in visualizing diverse TSC-related pathologies.
• To document the multi-organ involvement in a single TSC case using advanced imaging.

Main Methods:

• Utilized 18F-FDG PET/CT imaging.
• Analyzed findings in the brain, skin, kidneys, and lungs.
• Correlated imaging findings with the diagnosis of tuberous sclerosis complex.

Main Results:

• 18F-FDG PET/CT revealed characteristic brain and skin lesions.
• Bilateral renal angiomyolipomas were identified.
• Pulmonary lymphangioleiomyomatosis was observed.

Conclusions:

• 18F-FDG PET/CT is a valuable tool for assessing the extent of organ involvement in tuberous sclerosis complex.
• The imaging findings demonstrate the multi-systemic nature of TSC.
• This case highlights the comprehensive diagnostic capability of PET/CT in neurocutaneous disorders.