CTICasesLymphangioleiomyomatosis in Tuberous Sclerosis
Imaging findings
High-resolution chest CT shows multiple thin-walled, polygonal or triangular pulmonary cysts distributed along the fissures and subpleural regions, mimicking Birt-Hogg-Dubé syndrome. Abdominal CT demonstrates massive bilateral renal angiomyolipomas (AMLs) replacing both kidneys, and multiple sclerotic bone lesions in the spine resembling bone islands, in a patient with history of seizures and genetic confirmation of tuberous sclerosis complex (TSC).
Key takeaways
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome caused by mutations in TSC1 or TSC2, which regulates the mTOR pathway. Pulmonary lymphangioleiomyomatosis (LAM) occurs in a significant proportion of women with TSC. While classic LAM cysts are thin-walled and round, they can occasionally present with a polygonal or subpleural distribution similar to Birt-Hogg-Dubé syndrome, and the presence of multiple sclerotic bone lesions and massive renal AMLs helps secure the correct diagnosis.
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