Tuberous Sclerosis Complex – A Case Report

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterised by hamartoma formation in multiple organs, particularly the skin, brain, eye, kidney and heart. It is caused by mutation of two genes TSC1, and TSC2, which encode Hamartin and Tuberin, respectively. In this paper, a case of a 19-year-old female with TSC is reported as it is associated with angiomyolipomas of the kidneys, dentigenous cyst, polycystic ovarian disease, calcified subependymal nodules in the lateral ventricles of brain and multiple radial lens opacities in the eyes.
Methodical systemic examination with appropriate investigations is mandatory to diagnose a case of TSC.