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

Year: 2025

Type: article

Abstract: 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 TSC1 or TSC2 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 TSC1 or TSC2 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 TSC gene mutations. Additionally, the case emphasizes the risk of severe renal involvement in TSC, necessitating early recognition and management.

Source: Oxford Medical Case Reports

DOI: 10.1093/omcr/omaf187