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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Bibliographic Details
Published in:Journal of clinical medicine 2022-10, Vol.11 (20), p.6084
Main Authors: Hunter-Dickson, Mitchell, Wu, Patrick, Athavale, Akshay, Wang, Amanda Ying
Format: Article
Language:English
Subjects:
Abdomen
Case Report
Case reports
Cell division
Clinical medicine
Cognitive ability
Convulsions & seizures
Coronaviruses
Cysts
Family medical history
Genes
Hematuria
Hypertension
Kidney diseases
Literature reviews
Mutation
Patients
Tuberous sclerosis
Ultrasonic imaging
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Summary: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.
ISSN:2077-0383
2077-0383
DOI:10.3390/jcm11206084