Aicardi syndrome

Aicardi syndrome is a rare neurodevelopmental disorder that occurs almost exclusively in females and is characterized by a classic triad of features: agenesis (partial or complete absence) of the corpus callosum, infantile spasms (a type of seizure), and distinctive chorioretinal lacunae (lesions in the light-sensitive tissue at the back of the eye). The condition is thought to result from a de novo mutation on the X chromosome, and it is believed to be lethal in males, which explains why nearly all affected individuals are female, with rare exceptions in males with Klinefelter syndrome (47,XXY). The specific causative gene has not yet been identified. Aicardi syndrome primarily affects the brain, eyes, and skeletal system. In addition to the classic triad, affected individuals frequently exhibit other brain malformations such as cortical heterotopias, polymicrogyria, and intracranial cysts (including choroid plexus papillomas). Ocular abnormalities may include microphthalmia, optic nerve colobomas, and optic disc anomalies. Skeletal features can include costovertebral anomalies such as hemivertebrae and absent or fused ribs. Intellectual disability is typically severe, and epilepsy is often refractory to standard antiepileptic medications. Some individuals may also develop skin lesions. There is currently no cure for Aicardi syndrome, and treatment is primarily supportive and symptomatic. Management focuses on seizure control, which can be challenging and may require multiple antiepileptic drugs, dietary therapies such as the ketogenic diet, or in some cases surgical interventions. Physical therapy, occupational therapy, and early intervention programs are important to optimize developmental outcomes. Regular ophthalmologic and neurological follow-up is essential. Prognosis varies considerably, but many individuals survive into childhood and adolescence, with some living into adulthood, though significant neurodevelopmental impairment is typical.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Aicardi syndrome