A rare early-onset bilateral renal cysts, focal seizures in a 1-year-old male with tuberous sclerosis and No mutation identified

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder characterized by the development of benign tumors in multiple organs. This report presents an unusual case of early-onset renal cystic disease in a 1-year-old male with TSC, despite the absence of detectable mutations in the <i>TSC1</i> or <i>TSC2</i> genes. Postnatal imaging revealed bilateral polycystic kidney disease by 2 months of age. The patient presented with secondary hypertension and seizures. Neuroimaging confirmed cortical tubers and a subependymal giant cell astrocytoma (SEGA), while echocardiography identified cardiac rhabdomyomas. Despite these clinical findings, genetic testing failed to detect mutations in the <i>TSC1</i> or <i>TSC2</i> genes. This case highlights the importance of considering TSC as a potential diagnosis in cases of early-onset renal cystic disease, even in the absence of detectable <i>TSC</i> gene mutations. Additionally, the case emphasizes the risk of severe renal involvement in TSC, necessitating early recognition and management.