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

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 tre...

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Autores principales: Hunter-Dickson, Mitchell, Wu, Patrick, Athavale, Akshay, Wang, Amanda Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9605548/
https://www.ncbi.nlm.nih.gov/pubmed/36294405
http://dx.doi.org/10.3390/jcm11206084
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author Hunter-Dickson, Mitchell
Wu, Patrick
Athavale, Akshay
Wang, Amanda Ying
author_facet Hunter-Dickson, Mitchell
Wu, Patrick
Athavale, Akshay
Wang, Amanda Ying
author_sort Hunter-Dickson, Mitchell
collection PubMed
description 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.
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spelling pubmed-96055482022-10-27 Management of Renal Angiomyolipomas in Tuberous Sclerosis Complex: A Case Report and Literature Review Hunter-Dickson, Mitchell Wu, Patrick Athavale, Akshay Wang, Amanda Ying J Clin Med Case Report 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. MDPI 2022-10-15 /pmc/articles/PMC9605548/ /pubmed/36294405 http://dx.doi.org/10.3390/jcm11206084 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Hunter-Dickson, Mitchell
Wu, Patrick
Athavale, Akshay
Wang, Amanda Ying
Management of Renal Angiomyolipomas in Tuberous Sclerosis Complex: A Case Report and Literature Review
title Management of Renal Angiomyolipomas in Tuberous Sclerosis Complex: A Case Report and Literature Review
title_full Management of Renal Angiomyolipomas in Tuberous Sclerosis Complex: A Case Report and Literature Review
title_fullStr Management of Renal Angiomyolipomas in Tuberous Sclerosis Complex: A Case Report and Literature Review
title_full_unstemmed Management of Renal Angiomyolipomas in Tuberous Sclerosis Complex: A Case Report and Literature Review
title_short Management of Renal Angiomyolipomas in Tuberous Sclerosis Complex: A Case Report and Literature Review
title_sort management of renal angiomyolipomas in tuberous sclerosis complex: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9605548/
https://www.ncbi.nlm.nih.gov/pubmed/36294405
http://dx.doi.org/10.3390/jcm11206084
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