One Case of Tuberous Sclerosis

ABSTRACT

Tuberous sclerosis is a rare, autosomal dominant syndrome, in which tumors of the brain, skin, viscera,and eye are found. The classical diagnostic triad included epilepsy, mental retardation, and adenoma sebaceum. Retinal harmatomas are the most common ocular abnormalities in patients with tuberous sclerosis. We experienced one case of tuberous sclerosis that showed adenoma sebaceum of the face, history of epilepsy. The 18 year old male patient also had optic nerve phakoma in his right eye, retinal harmatomas in his left eye, Shagreen patch on the left lumbar area, subependymal nodules along the lateral ventricle and cortical tuber of frontal lobe.