Bilateral Renal Cell Carcinoma in a Paediatric Patient with Tuberous Sclerosis Complex

Overview

Journal BMJ Case Rep

Specialty General Medicine

Date 2013 Jul 16

PMID 23853020

Citations 2

Authors

Ana Teresa Gil

Ana Brett

Carolina Cordinha

Clara Gomes

Affiliations

Soon will be listed here.

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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