Aicardi Syndrome

Aicardi syndrome is a rare X-linked dominant disorder affecting females, characterized by agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. Additional features may include cortical malformations, vertebral anomalies, and developmental delay. Pathophysiology involves mutations in genes affecting early neurodevelopment, leading to structural brain abnormalities. Diagnosis relies on clinical criteria, neuroimaging, and ophthalmologic evaluation. Management is symptomatic, including seizure control, developmental therapy, and supportive care; prognosis is variable and generally poor due to neurological complications.