Aicardi syndrome

Abstract

Aicardi syndrome is a rare neurodevelopmental disorder occurring primarily in female children. It is thought to have X-linked dominant inheritance and the affected male foetuses do not survive to term. A 3-year-old girl child with refractory infantile spasms and corpus callosal agenesis was found to have chorioretinal lacunae in the left eye on fundus examination. A clinical diagnosis of Aicardi syndrome was made which was confirmed with intracranial imaging.