CTICasesContiguous Gene Syndrome: Tuberous Sclerosis and Polycystic Kidney Disease
Cite this case
[...]. Contiguous Gene Syndrome: Tuberous Sclerosis and Polycystic Kidney Disease. CTICases. Published February 8, 2024. https://cticases.com/c/mubwt
Imaging findings
Patient with known giant cell astrocytoma (brain), hepatic angiomyolipoma, and polycystic kidney disease.
Key takeaways
Tuberous sclerosis and polycystic kidney disease genes are physically proximal; co-occurrence suggests a contiguous gene syndrome.
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