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Case Reports
. 2013 Jul 12:2013:bcr2013010015.
doi: 10.1136/bcr-2013-010015.

Bilateral renal cell carcinoma in a paediatric patient with tuberous sclerosis complex

Ana Teresa Gil  1 , Ana Brett, Carolina Cordinhã, Clara Gomes
Affiliations
Case Reports

Bilateral renal cell carcinoma in a paediatric patient with tuberous sclerosis complex

Ana Teresa Gil et al. BMJ Case Rep. .

Abstract

Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder characterised by seizures, mental retardation and hamartoma formation in multiple organs, mainly in the brain, skin, kidney, liver, lung and heart. Renal manifestations occur in about 60-80% of all patients with TSC and their rate increases with age. We report the case of a 17-year-old boy with tuberous sclerosis who presented with abdominal pain associated with kidney failure. Investigation revealed bilateral renal lesions, suggesting angiomyolipomas. On further work-up, malignancy was suspected and the patient underwent bilateral partial nephrectomy with histological diagnosis of bilateral renal cell carcinoma. This is a rare complication of TSC, particularly in a paediatric setting. Adequate surveillance of kidney disorders in patients with TSC is warranted, to guarantee an early diagnosis and treatment.

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