Aicardi syndrome in an infant: clinical case report

*Correspondence: [e-mail].

Abstract

Case Presentation: We report the case of a 6-month-old infant who, since the first month of life, had focal clonic seizures that increased in frequency and intensity over time, followed by posture in infantile spasms. We performed an electroencephalogram showing asymmetric hypsarrhythmia to the left, magnetic resonance imaging of the skull showing corpus callosum dysgenesis with colpocephaly and gray matter heterotopia. Maintaining the clinical suspicion, we requested an ophthalmologic evaluation, recording a bilateral peripapillary chorioretinal gap, confirming the diagnosis. To improve seizures, a drug regimen was started with Vigabatrin 150mg/kg/day, Prednisone 2mg/kg/day with clinical and encephalographic suppression of hysyarrhythmia associated with Levetiracetam 30mg/kg/day to control focal seizures.

Discussion: Aicardi syndrome is a neurodevelopmental disorder that primarily affects females. Initially, it is characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae and infantile spasms. As more affected individuals were seen, it became clear that not all affected girls possess all three features of the classic triad and that other neurological and systemic defects are common, including other brain malformations, optic nerve abnormalities, other types of seizures, intellectual disability of varying severity and scoliosis. The diagnosis is based exclusively on clinical findings.

Final Comments: This case report highlights the main features that clinicians should consider to suspect this rare genetic condition, emphasizing imaging and electroencephalographic findings.

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Artikel online veröffentlicht:
12. Mai 2025