Aicardi syndrome: Clinical spectrum of a rare disorder

Aicardi syndrome is a rare genetic syndrome reported exclusively in females, with reported incidence of approximately 1 in 1.1 lakh live births. The clinical condition comprises of triad of infantile spasms, and mental retardation with neuroimaging findings of complete corpus callosum, agenesis and presence of chorioretinal degeneration observed during on eye examination. Here, authors reported the case of a 2-year-old female who exhibited typical clinical features, including seizures, developmental delay, and distinctive ocular abnormalities. MRI showed corpus callosum agenesis, an interhemispheric fissure cyst, and polymicrogyria. EEG depicted high voltage, polymorphic rhythm with superimposed multifocal spikes and wave discharges. Fundus examination revealed chorioretinal degeneration. This case emphasizes the importance of early recognition, accurate diagnosis, and comprehensive management strategies to optimizing outcomes for individuals with Aicardi syndrome.