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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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.

Ejemplares similares