CTICasesTuberous Sclerosis Complex with Myocardial Fat and Osteopoikilosis
Imaging findings
CT in an intubated patient with known tuberous sclerosis shows well-defined, often rounded fatty foci in the myocardium, typically along the septum but also visible in the periphery and on the right. There is no evidence of lymphangioleiomyomatosis. On the appropriate window there are numerous sclerotic foci throughout the bones, representing enostoses or bone islands, that is, osteopoikilosis.
Key takeaways
Myocardial fatty foci in tuberous sclerosis are thought to represent involuted rhabdomyomas. Both myocardial fat and osteopoikilosis are findings the presenter has encountered only in tuberous sclerosis complex and never in sporadic lymphangioleiomyomatosis, which makes them useful discriminators when the question is whether cystic lung disease is sporadic LAM or a manifestation of TSC. That distinction matters because some patients with TSC are not diagnosed until later in life and may lack the full set of manifestations. Not all patients with tuberous sclerosis develop LAM; LAM is more common in women with TSC, and a male with LAM almost always has tuberous sclerosis.
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