Unilateral renal agenesis and contralateral hydroureteronephrosis in a boy with tuberous sclerosis complex.

A 3-year-8-month-old boy with tuberous sclerosis complex (TSC) 2 gene mutation was diagnosed with TSC. The patient presented with multiple hypomelanic macules over his trunk, a large rhabdomyoma over his left ventricle, and cortical tubers and subependymal nodules in his brain. He suffered from recurrent urinary tract infections (UTIs) and pyretic illness, triggering seizures since the age of 6 months. Abdominal magnetic resonance imaging performed at the age of 1 month revealed right renal agenesis, dilatation of the left pelvis, and several small cysts in his left kidney, which was suspected to be TSC-related (Fig. 1A). Voiding cystourethrography (VCUG) performed after the first febrile UTI exhibited severe left ureteral tortuosity and a gross dilatation of the left ureter, pelvis, and calyces. These findings were consistent with a diagnosis of grade V vesicoureteral reflux (VUR) (Fig. 1B). He received endoscopic treatments for VUR using Deflux injections at 9 months, 1 year and 4 months, and 2 years of age. However, the patient developed two episodes of febrile UTIs complicated by renal abscesses, septic shock, and acute kidney injury during the post-Deflux treatment period. Despite treatment, follow-up VCUG still revealed the presence of grade IV–V VUR. At the age of 3 years and 5 months, he underwent a Cohen ureteral reimplantation surgery for the treatment of VUR. At the time this report was prepared, the renal function of the boy remained stable after repeated febrile UTI episodes with unilateral renal agenesis. In patients with TSC, common renal involvement includes angiomyolipomas and renal cysts.1Nair N. Chakraborty R. Mahajan Z. Sharma A. Sethi S.K. Raina R. Renal manifestations of tuberous sclerosis complex.J Kidney Cancer VHL. 2020; 7: 5-19Crossref PubMed Google Scholar However, other renal presentations, including VUR and unilateral renal agenesis, can occur, albeit rarely. This rare case indicates that a young boy with TSC may experience concurrent congenital anomalies of the kidney and urinary tract and present with recurrent UTIs early in life. None.