title: Unilateral eyelid angiofibroma with complete blepharoptosis as the presenting sign of tuberous sclerosis.
abstract: Tuberous sclerosis is a multisystem autosomal-dominant disease characterized by hamartomatous growths in the brain, skin, kidneys, eyes, and heart, but it may affect almost any organ. Retinal hamartomas are 1 of the major diagnostic criteria for tuberous sclerosis and occur in approximately 50% of patients. Nonretinal findings include angiofibromas of the eyelid, strabismus, and pseudo-colobomas of the lens and iris. We report a case of a newborn with congenital eyelid angiofibroma mimicking complete congenital blepharoptosis that was revealed by central nervous system imaging to be part of the tuberous sclerosis complex.
authors.affiliation: Department of Ophthalmology, Clinica Alemana de Santiago and Universidad Del Desarrollo, Santiago, Chile. jpablolopezg@hotmail.com
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Lopez
authors.forename: Diego
authors.initials: D
authors.lastname: Ossandón
authors.forename: Patricio
authors.initials: P
authors.lastname: Miller
authors.forename: Lorena
authors.initials: L
authors.lastname: Sánchez
authors.forename: Augusto
authors.initials: A
authors.lastname: Winter
mesh_terms: D018322:Angiofibroma / Q000151:congenital / Q000175:diagnosis*; D001763:Blepharoptosis / Q000151:congenital / Q000175:diagnosis*; D005142:Eyelid Neoplasms / Q000151:congenital / Q000175:diagnosis*; D018682:GABA Agents / Q000627:therapeutic use; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000188:drug therapy; D014635:Valproic Acid / Q000627:therapeutic use; D020888:Vigabatrin / Q000627:therapeutic use
chemical_list: D018682:GABA Agents; D014635:Valproic Acid; D020888:Vigabatrin