A Case of Bilateral Tuberous Sclerosis

ABSTRACT

Tuberous sclerosis is a rare multisystem syndrome characterized by hamartomatous tumors of the brain, skin, viscera, and eye. The diagnostic triad for this disease, proposed by Vogt, included epilepsy, mental retardation, and adenoma sebaceum. In eyes, retinal hamartomas and optic nerve phacoma are observed over 50% and hypopigmented areas of peripheral retina and iris are often found. We introduce an 18-year old girl with adenoma sebaceum of the face, history of epilepsy and insignificant mental retardation status. She also had a retinal hamartoma in her right eye, optic nerve phacoma in her left eye, shagreen patch on lumbosacral area, angiomyolipoma of both kidneys, periventricular subependymal nodules and calcified cortical nodule of occipital lobe of brain.