BMJ Case Reports 2012-Aug
Tuberous sclerosis complex presenting as bilateral large renal angiomyolipomas.
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Tuberous sclerosis is an inherited disorder that can present with seizures, mental retardation, cutaneous lesions and visceral hamartomas, but can be entirely asymptomatic. The disease occurs in 1:100 000 persons in all races with nearly equal distribution between the sexes. Tuberous sclerosis is often associated with renal angiomyolipomas (AMLs), which occur in up to 80% of these patients. Here we report a case of a patient who presented with bilateral large renal AMLs and was detected to have tuberous sclerosis complex.