Purpose:

Aicardi syndrome was originally described in 1965, as a triad of abnormalities that includes partial or total agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms.

Case report:

A 1-month-old female was evaluated in the Genetics department with a history of epilepsy, total agenesis of the corpus callosum, and vertebral dysgenesis with scoliosis identified during a previous neurological evaluation. An ophthalmological examination revealed microphthalmia of the right eye and microcornea in the left eye; the rest of the anterior segment showed no alterations. Fundoscopy revealed chorioretinal lesions compatible with chorioretinal lacunae that integrated the diagnosis of Aicardi syndrome.

Conclusions:

We emphasize the importance of a careful ophthalmologic examination in all patients to identify ophthalmological and systemic abnormalities at an early age and the development and implementation of an individualized therapy plan.