von Hippel-Lindau syndrome presenting as bilateral renal cell carcinoma

AbstractVon Hippel-Lindau disease is an uncommon autosomal dominant inherited disease with the responsible gene located in the short arm of chromosomal 3 within the locus 3p25-26. Clinically it is characterized by retinal and central nervous system hemangioblastomas, visceral cysts or tumors including renal cell carcinoma, neural crest origin tumors (most commonly pheochromocytoma) and endolymphatic sac tumour. Familial screening and counseling are important. We reported a case of a young man suffering from von Hippel-Lindau disease and it is now relatively asymptomatic on peritoneal dialysis. High level of suspicion and a detailed family history are necessary to attain the diagnosis