Abstract

VILLARREAL-YBAZETA, Miguel A; TIRADO-CHAVARRIA, Felicitas A  and  CALDERON-ALARCON, Nila E. Aicardi’s syndrome: A case report and literature review. Rev Neuropsiquiatr [online]. 2016, vol.79, n.1, pp.59-65. ISSN 0034-8597.

Aicardi’s syndrome (SA) is a rare genetic disease, clinically characterized by the classic triad of agenesis of the corpus callosum, infantile spasms and chorioretinal lacunae. The aim of this presentation is to describe the clinical spectrum and evolution of the disorder. We report the case of a 2-month old female infant with a prenatal diagnosis of multiple brain malformations, brought into the Emergency Room while experiencing seizure spells. During her hospitalization, electroencephalography, neuroimaging and ophthalmologic evaluations confirmed the diagnosis of SA. The importance of knowing the clinical manifestations of the syndrome is emphasized, in order to keep it in mind as part of the differential diagnosis for cases presenting infantile spasms associated with agenesis of the corpus callosum.

Keywords : Agenesis of the corpus callosum; infantile spasms; chorioretinal lacunae; Aicardi syndrome.

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