Aicardi syndrome

Aicardi syndrome is a rare neurodevelopmental disorder most often seen in females. It is defined by a characteristic triad that includes partial or complete absence of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. The condition is very rare, affecting approximately 1 to 9 individuals per million, and nearly all cases occur in girls. Although the precise genetic basis is not yet fully understood, the syndrome is known to be inherited in an X-linked manner.

Individuals with Aicardi syndrome typically present with a combination of neurological, ophthalmologic, and skeletal features. Neurologically, many affected children experience severe intellectual disability, global developmental delays, and infantile spasms; brain imaging often reveals partial agenesis of the corpus callosum along with other malformations such as pachygyria and polymicrogyria. Ocular findings include abnormalities in retinal pigmentation that are characteristic of the syndrome. In addition, a number of skeletal abnormalities such as scoliosis, rib fusion, block vertebrae, bifid ribs, and facial features like a short philtrum and protruding ear have been reported. Not all individuals experience all of these features, and severity varies considerably.

Most cases of Aicardi syndrome arise from de novo genetic changes, meaning there is usually no prior family history. The condition is inherited in an X-linked dominant pattern, which explains why nearly all affected individuals are female while affected males are exceedingly rare. The precise genetic basis is under investigation, and current understanding suggests that disruption of a gene on the X chromosome plays a key role. Families are encouraged to seek genetic counseling to understand the implications for family planning as well as to discuss recurrence risks, which are generally low due to the de novo origin of most cases.

Currently, management of Aicardi syndrome focuses on supportive care and symptom management. In the absence of any FDA-approved treatments, care is tailored to the individual and typically involves a multidisciplinary team that may include neurologists, ophthalmologists, orthopedic specialists, and rehabilitation professionals. Long-term management emphasizes regular surveillance and monitoring to detect complications early, with interventions such as seizure control, physical and occupational therapy, and management of skeletal anomalies forming the cornerstone of treatment. Families are advised to discuss specific treatment options with their healthcare team, and genetic counseling is recommended for guidance on family planning.

Aicardi syndrome is a lifelong neurodevelopmental condition with a highly variable course. With current standards of care, many individuals benefit from supportive interventions, though clinical outcomes can differ widely based on the severity of symptoms and the timing of diagnosis. Outcomes described in medical literature continue to evolve as standards of care improve, meaning that advances in treatment and multidisciplinary management may further influence long-term health. Families often find it helpful to connect with specialist teams and genetic counseling can provide additional guidance for managing the condition and planning for the future.

Several clinical trials are currently underway exploring new approaches to treatment for Aicardi syndrome. While no therapies have yet achieved FDA approval, ongoing research continues to investigate potential interventions that may improve neurological outcomes and overall quality of life. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility for participation.