Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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August 4, 2008
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.