Tuberous Sclerosis Complex with Exophytic Renal Angiomyolipoma and Pulmonary Cysts
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Imaging findings
Abdominal CT shows a large retroperitoneal fatty mass, which on careful review is an exophytic renal angiomyolipoma with a feeding vessel and split renal cortex. Chest CT reveals multiple lung cysts throughout, characteristic of tuberous sclerosis complex. An additional non-fatty nodule is present in the left upper lobe, which may represent a hamartoma.
Key takeaways
Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by the development of benign tumors in multiple organ systems. Classic thoracic manifestations include pulmonary lymphangioleiomyomatosis (LAM), which presents as multiple lung cysts. Renal angiomyolipomas are common abdominal findings in TSC, and can be large and exophytic, sometimes mimicking liposarcomas. Pulmonary hamartomas can also be seen in TSC patients, potentially without macroscopic fat.
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