Known genetic disease.
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Multiple bilateral fat containing lesions consistent with angiomyolipomas.
Multiple bilateral lung cysts with imperceptible walls, suggestive of lymphangiomyolipomas.
Sclerotic lesions in pelvic bones.
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Clinically, tuberous sclerosis has been described as a triad of seizures, mental retardation 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 demostrates the typical manifestations of the syndrome expected to be seen in abdomen and lung base.
- Manoukian SB, Kowal DJ. Comprehensive imaging manifestations of tuberous sclerosis. AJR. American journal of roentgenology. 204 (5): 933-43. doi:10.2214/AJR.13.12235 - Pubmed
- Altman NR, Purser RK, Post MJ. Tuberous sclerosis: characteristics at CT and MR imaging. Radiology. 167 (2): 527-32. doi:10.1148/radiology.167.2.3357966 - Pubmed