Renal cell carcinoma as significant manifestation of tuberous sclerosis complex

We present a case of renal cell carcinoma diagnosed in 1982; aged 20 years. Regular follow up of the abdomen by USG noted first the presence of 2 nodules in the remaining kidney in 1994, age 30 and more lesions in 1997, aged 35. These were suspected to be angiomyolipomas on USG. The radiologist on this basis raised the question of tuberous sclerosis. Subsequent evaluation by internist/neurologist showed few adenoma sebaceum lesions a single ash leaf macule, a shagreen patch on the back, and characteristic multiple subependymal calcifications diagnostic of tuberous sclerosis on CT scan brain. The mentation was normal, there was history of only a single fit in childhood. The renal cell carcinoma was thus the first significant manifestation of tuberous sclerosis complex (TSC).