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Management of Renal Angiomyolipomas in Tuberous Sclerosis Complex: A Case Report and Literature Review.

Mitchell Hunter-DicksonPatrick WuAkshay AthavaleAmanda Ying Wang
Published in: Journal of clinical medicine (2022)
We report a case of misdiagnosed tuberous sclerosis complex (TSC) in a patient without TSC gene variant presenting with bilateral renal angiomyolipomas and seizures in the context of strong family history of polycystic kidney disease. Clinical diagnosis of tuberous sclerosis complex was made and treatment with everolimus reduced size of renal angiomyolipomas. In this case, report we discuss the association between tuberous sclerosis complex and polycystic kidney disease and novel treatment for TSC.
Keyphrases
  • case report
  • polycystic kidney disease
  • temporal lobe epilepsy
  • genome wide
  • transcription factor
  • combination therapy
  • genome wide analysis