TSC2/PKD1 contiguous gene syndrome in an adult.

A 48-year-old woman with a history of autosomal-dominant polycystic kidney disease (ADPKD), was found to have multiple renal angiomyolipomas on a pathological examination after nephrectomy. The clinical and pathological presentation is consistent with the diagnosis of TSC2/PKD1 contiguous gene syndrome, caused by the simultaneous loss of TSC2 and PKD1, the two major genes for tuberous sclerosis complex and ADPKD.