Tuberous sclerosis with bilateral renal cell carcinoma in a child: A case report
Journal: Pediatric Urology Case Reports (Vol.2, No. 1)Publication Date: 2015-01-01
Authors : Sanjay Choudhuri; Jeevanjyoti Mishra; Gyan Prakash Singh; Datteswar Hota;
Page : 1-6
Keywords : Tuberous sclerosis complex; renal cell carcinoma; children; tuberin; hamartin;
Abstract
Tuberous sclerosis complex (TCS) is an autosomal dominant disease which comes under a group of diseases known as neurocutaneous syndrome. Incidence of TCS is around 1 in 6000. The clinical triad of papular facial nevus, seizures and mental retardation is found in less than 50% of the patients. Renal lesions in TCS commonly consist of simple renal cyst and angiomyolipomas. Renal cell carcinoma though rarely associated with tuberous sclerosis may be its significant manifestations. We report a case of TCS with bilateral renal cell carcinoma in a 12 year old child with classical radiological and clinical signs.
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