Activity: Talk or presentation types › Poster presentation
Description
Tuberous sclerosis (TS), also known as Pringle-Bourneville syndrome, is a genetic disorder caused by mutations in the TSC1 or TSC2 genes. While about half of the cases are inherited, the rest occur sporadically. TS is characterized by the growth of benign tumors, known as hamartomas, in multiple organs, including the brain, kidneys, and liver. Radiology plays a crucial role in the diagnosis and follow-up of TS by identifying hallmark features such as intracranial subependymal nodules, cortical tubers, and renal angiomyolipomas (AMLs). Diagnostic criteria for TS require a combination of clinical and imaging findings, with MRI and ultrasound being pivotal tools in assessing organ involvement. This case series highlights the brain MRI and abdominal ultrasound findings in two adult patients with tuberous sclerosis, focusing on the neurological manifestations and renal involvement.