Aicardi Syndrome, a case report

Abstract

Aicardi syndrome is a very rare neurological condition caused by an unknown de novo mutation on the X-chromosome. The diagnostic triad is composed of infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae but it can present with more additional neurological and physical manifestations. Epileptic spasms are often the first clinical presentation of a girl with Aicardi syndrome. Due to a wide range of aetiologies in epileptic spasms, identifying a rare cause is not always easy. This case report describes the clinical and imaging characteristics of an uncommon presentation of infantile spasms, Aicardi syndrome.