Aicardi Syndrome
- Originally described as featuring a triad of infantile spasms, chorioretinal "lacunae," and agenesis of the corpus callosum.
- Almost invariably found in girls (X-linked dominant)
- Other major features include: partial or complete callosal agenesis, cortical malformations (mostly microgyria,) periventricular and subcortical heterotopias, cysts around the 3rd ventricle and/or choroid plexuses, papillomas of choroid plexuses, hypoplastic cerebellum, retrobulbar cysts, microophthalmia and colobomas.
- Clinical features: infantile spasms, developmental delay, lacunar chorioretinopathy, and other types of seizures.
