RESUMO
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.
Assuntos
Adolescente , Humanos , Masculino , Encéfalo , Epilepsia , Lobo Frontal , Deficiência Intelectual , Ventrículos Laterais , Nervo Óptico , Retinaldeído , Pele , Esclerose TuberosaRESUMO
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.