Balkan Journal of Medical Genetics

BILATERAL RENAL ANGIOMYOLIPOMAS AND SUBEPENDYMAL GIANT CELL ASTROCYTOMA ASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX: A CASE REPORT AND REVIEW OF THE LITERATURE
Rambabova Bushljetik I, Lazareska M, Barbov I, Stankov O, Filipce V, Spasovski G
*Corresponding Author: Rambabova Bushljetik I, M.D., Ph.D., University Clinic of Nephrology, Vodnjanska 17, 1000 Skopje, Republic of North Macedonia. Tel.: +389-214-7191. Mobile: +389-72- 216-581. Fax: +389-231-1188. E-mail: irambabova@yahoo.com
page: 93

CASE REPORT

sporadic TSC at the age of 12. She was the first child in the family, born at term with placenta previa. Because of presence of multiple hypopigmented macules on the skin at the time of birth, she was transferred to the Neonatology Department at the University Pediatric Clinic, Skopje, Republic of North Macedonia. However, the exact diagnosis was not established. At 1 year of age, the first convulsion was reported and treatment with phenobarbitol was initiated. At the age of 5, multiple facial angiofibromas were noted in the medical records. Furthermore, some cosmetic procedures were performed. In 2010, at the age of 12, a new episode of convulsions appeared, and she was hospitalized. A complete check-up was performed and genetic analysis confirmed a deletion of exon 1 of the TSC2 gene and the upstream region of the TSC2 gene by multiplex ligation probe amplification (MLPA) method (MRC-Holland, Amsterdam, The Netherlands). No presence of mutation in the genetic analysis of the parents was confirmed, and it was described as a de novo mutation. Multiple major and minor features were described in the medical reports (Table 1). Treatment with mTOR inhibitor was suggested, but not initiated. In 2014, she was regularly transferred to the University Clinic of Nephrology, Skopje, Republic of North Macedonia, as an adult patient. Another investigation and laboratory tests were performed there. The patient was asymptomatic, without the presence of new episodes of epilepsy, flank pain and abnormal urinary sediment. Ultrasonography of the urinary tract revealed multiple heterogenous lipid-rich lesions present in both kidneys. The largest formation in the upper pole of the right kidney had the longest diameter of ~11 cm. She was referred to the urologist, but surgical treatment or an embolization procedure was not suggested. In 2015, according to the guidelines for treatment of TSC patients, systematic therapy with everolimus was initiated. Magnetic resonance imaging of the urinary tract and brain were performed before initiation of everolimus treatment (Figures 1 and 2). After 12 months of treatment, reduction of the renal tumors and SEGA were registered (Figures 3 and 4). At 36 months, ~24.0% reduction in the longest diameter of the largest AML in right kidney was achieved. Reduction of SEGA was also observed (Figures 5 and 6). All biochemical parameters remained stable during the follow-up period. Normal renal function without a new onset of proteinuria was observed (Table 2).

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