title: Bilateral renal cell carcinoma in a paediatric patient with tuberous sclerosis complex.
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.
authors.affiliation: Pediatric Nephrology Unit, Pediatric Hospital Carmona da Mota, Hospital Center and University of Coimbra, Coimbra, Portugal. ateresagil@gmail.com
authors.forename: Ana Teresa
authors.initials: AT
authors.lastname: Gil
authors.forename: Ana
authors.initials: A
authors.lastname: Brett
authors.forename: Carolina
authors.initials: C
authors.lastname: Cordinhã
authors.forename: Clara
authors.initials: C
authors.lastname: Gomes
mesh_terms: D000293:Adolescent; D002292:Carcinoma, Renal Cell / Q000150:complications* / Q000473:pathology; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications* / Q000473:pathology; D008297:Male; D014402:Tuberous Sclerosis / Q000150:complications*