| Literature DB >> 19683195 |
Juan Pablo Lopez1, Diego Ossandón, Patricio Miller, Lorena Sánchez, Augusto Winter.
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.Entities:
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Year: 2009 PMID: 19683195 DOI: 10.1016/j.jaapos.2009.05.008
Source DB: PubMed Journal: J AAPOS ISSN: 1091-8531 Impact factor: 1.220