Unilateral eyelid angiofibroma with complete blepharoptosis as the presenting sign of tuberous sclerosis.
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.
Lopez
Juan Pablo
JP
Department of Ophthalmology, Clinica Alemana de Santiago and Universidad Del Desarrollo, Santiago, Chile. jpablolopezg@hotmail.com
Ossandón
Diego
D
Miller
Patricio
P
Sánchez
Lorena
L
Winter
Augusto
A
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
D018682:GABA Agents; D014635:Valproic Acid; D020888:Vigabatrin