Aicardi Syndrome is a neurological developmental disorder seen only in girls, classically characterized by the triad of agenesis of corpus callosum, infantile spasms, and chorioretinal lacuna. The corpus callosum agenesis may be partial or complete. Spasms are frequently asymmetrical, and occur in clusters, preceded by a focal clonic or tonic seizure limited to the side in which the spasms predominate. Similarly, the lesions of the retina may also be unilateral. Apart from these classical features of the condition, newer diagnostic features recognized include cortical malformations like microgyria, periventricular and subventricular heterotopia, papilloma of choroids plexus, and optic disc or nerve coloboma. In most cases, affected girls develop quite normally till the age of three months, after which they start to exhibit symptoms of the condition.
There is no specific treatment available for Aicardi Syndrome. Management focuses on controlling the seizures, and dealing with the development delays. Most of the girls face developmental delays, and moderate to severe mental retardation.