Presentation
Known genetic disease.
Patient Data
Multiple bilateral fat containing lesions consistent with angiomyolipomas.
Multiple bilateral lung cysts with imperceptible walls, suggestive of lymphangiomyolipomas.
Sclerotic lesions in pelvic bones.
Case Discussion
Clinically, tuberous sclerosis has been described as a triad of seizures, intellectual disability and adenoma sebaceum.
Multiple other characteristic manifestation of the disease are seen on radiology, including renal angiomyolipomas, cortical or subependymal tubers, white matter abnormalities, subependymal giant cell astrocytomas (SGCA), lymphangiomyomatosis (LAM), cardiac rhabdomyomas, renal angiomyolipomas, renal cell carcinoma and oncocytomas, sclerotic bone lesion and other less common abnormalities.
This patient demonstrates the typical manifestations of the syndrome expected to be seen in the abdomen and lung base.
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