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Bilateral renal angiomyolipomas and subependymal giant cell astrocytoma associated with tuberous sclerosis complex: A case report and review of the literature

Authors
  • Rambabova Bushljetik, I1
  • Lazareska, M2
  • Barbov, I3
  • Stankov, O4
  • Filipce, V5
  • Spasovski, G1
  • 1 University Clinic of Nephrology, Republic of North Macedonia , (Macedonia)
  • 2 Institute of Radiology, Republic of North Macedonia , (Macedonia)
  • 3 University Clinic of Neurology, Republic of North Macedonia , (Macedonia)
  • 4 University Clinic of Urology, Republic of North Macedonia , (Macedonia)
  • 5 University Clinic of Neurosurgery, Republic of North Macedonia , (Macedonia)
Type
Published Article
Journal
Balkan Journal of Medical Genetics
Publisher
De Gruyter Open Sp. z o.o.
Publication Date
Mar 23, 2021
Volume
23
Issue
2
Pages
93–98
Identifiers
DOI: 10.2478/bjmg-2020-0017
Source
De Gruyter
Keywords
License
Green

Abstract

Tuberous sclerosis complex (TSC) is an autosomal-dominant multi system disorder. The genetic basis of the disorder is mutations in the TSC1 or TSC2 gene, which leads to over activation of the mammalian target of rapamycin (mTOR) protein complex and results in development of benign tumors in different body systems such as brain, skin, lungs and kidney. The mTOR inhibitors are presently the main treatment option for patients with TSC. We here report a 21-year female patient with large bilateral angiomyolipoma (AML) in both kidneys with longest diameter more than 12.3 cm and subependymal giant cell astrocytoma (SEGA). Treatment with everolimus (EVE) was initiated at a dose of 10.0 mg/day and continued during the following 3 years. Magnetic resonance imaging (MRI) was performed before treatment with everolimus was initiated, and consequently at 12 and 36 months for follow-up of the efficacy of the treatment. After 3 years, the total size of largest AML decreased by ~24.0% in the longest diameter. A reduction of the total size of SEGA was also observed. The most common adverse effect of treatment was stomatitis grades 3 to 4 and one febrile episode associated with skin rash that required a reduced dose of EVE. In conclusion, the everolimus treatment improved even such a large renal AML and the effect persisted during the long-term administration with a small number of adverse effects. A positive effect was observed on the brain tumor as well.

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