Tuberous Sclerosis in a Young Female- A Rare Case Report
نویسندگان
چکیده
Tuberous sclerosis complex Syndrome (TSCs) is an autosomal dominant disorder affecting multiple organs; caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterized by the development of benign tumours affecting different body systems. The most common visible manifestations of TSC are facial angiofibromas and the formation of hamartomas in multiple organ systems leading to morbidity and mortality. We report a case of 22 year old girl in Tripura with Tuberous sclerosis complex syndrome presented with facial angiofibromas, angiomyolipomas of the bilateral kidney, subependymal nodules, subependymal giant cell astrocytoma. Key words; facial angiofibromas, angiomyolipomas of the bilateral kidney, subpendymal nodules, subependymal giant cell astrocytoma
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