Aicardi Syndrome is a neuroretinal disorder of unknown etiology. The diagnosis is based on the finding of infantile seizures and chorioretinal lacunae associated with characteristic radiological alterations (agenesy of the corpus callosum). Till the present, all reported cases are in females, except one in a boy with a 47XXY karyotype; the children usually die before puberty. The objective is to describe a case of Aicardi syndrome. Chorioretinal lacunae are very important findings in this syndrome, considered pathognomonic in a young girl presenting seizures. The ophthalmologist has an important role in confirming the diagnosis of this syndrome.
Eye abnormalities; Corpus callosum; Syndrome; Infantile spasms; Retina; Magnetic resonance imaging; X-ray computed tomography; Case report
