CTICasesContiguous Gene Syndrome (TSC2 and PKD1)
Imaging findings
Cystic lung disease, multiple hepatic cysts, polycystic kidneys, and an exophytic angiomyolipoma.
Key takeaways
Patients can present with both Tuberous Sclerosis and Autosomal Dominant Polycystic Kidney Disease due to a deletion on chromosome 16 where the TSC2 and PKD1 genes are located back-to-back.
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