Aicardi Syndrome: Clinical Features and Diagnostic Approaches

Aicardi syndrome is a rare neurodevelopmental disorder, almost exclusively affecting females, characterised by a clinical triad—agenesis or dysgenesis of the corpus callosum, distinctive chorioretinal lacunae and infantile spasms. Clinical presentation usually manifests within the first three months with epileptic spasms and developmental delay. Neuroimaging reveals additional cortical malformations including polymicrogyria, heterotopia and arachnoid cysts, while ophthalmological examination identifies patchy retinal defects. Skeletal anomalies and visceral malformations may also occur. Diagnosis remains largely clinical, supported by cranial MRI or prenatal ultrasound and fetal MRI in suspected cases. Although traditionally considered X-linked, recent genetic studies highlight a heterogeneous aetiology with de novo autosomal variants implicating pathways of cortical development. Management centres on seizure control, visual rehabilitation and multidisciplinary support to address motor, cognitive and respiratory complications. Natural history studies are refining prognostic indicators and informing the design of future therapeutic trials.

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Technical terms

Agenesis of the corpus callosum: Complete or partial absence of the central white-matter tract connecting the cerebral hemispheres.

Chorioretinal lacunae: Well-circumscribed, pigment-free areas of defect in the choroid and retina.

Infantile spasms: A type of epileptic seizure characterised by sudden flexion or extension of the limbs, typically occurring in clusters.

Polymicrogyria: Cortical malformation with an excessive number of small gyri leading to abnormal cortical architecture.

Arachnoid cyst: Cerebrospinal fluid-filled sac within the arachnoid membrane, often leading to mass effect or distortion.

Heterotopia: Neuronal migration anomaly in which grey matter is located in abnormal brain regions.

References

1. Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases. Orphanet Journal of Rare Diseases (2024).
2. Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series. Prenatal Diagnosis (2022).
3. Aicardi Syndrome Is a Genetically Heterogeneous Disorder. Genes (2023).