Tuberous Sclerosis Complex– A Case Report

ABSTRACT

Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder characterized by hamartoma formation in multiple organs, particularly the skin, Brain, Eye, Kidney and heart. TSC is caused by mutation of two genes TSC1, and TSC2 which encodes for Hemartin and Tuberin. The case of 19 year old female with TSC is reported here since it is associated with Angiomyolipomas of kidneys, Dentigerous cyst, and 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 Tuberous Sclerosis Complex.