Aicardi syndrome

Abstract

Aicardi syndrome (AS) is a rare entity classically defined by a triad of abnormalities including corpus callosum agenesia, infantile spasms and choroidoretinal lacunae. With the advent of magnetic resonance imaging (MRI), there have been found several brain abnormalities (which originally were not described) and therefore is considered as a complex malformation syndrome, which includes a combination of complete or partial agenesis of the corpus callosum plus other congenital anomalies such as cortical dysplasia, periventricular or subcortical heterotopia, cysts or choroid plexus papilloma and asymmetry of the hemispheres. This combination is highly suggestive of the disease. This complex anomalies and the changes of the optic nerve and / or retina plus infantile spasms and / or focal seizures is more important than the classical definition of AS. We present the case of a 32 year old woman with a history of epilepsy since 3 months of age and cognitive impairment, who was admitted in the emergency department with status epilepticus. In her study protocol there were found clinical and imaging findings compatible with Aicardi syndrome and whose survival differs to that previously described.