Clinical characteristics: Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis.
Diagnosis/testing: The diagnosis of Aicardi syndrome is based exclusively on clinical findings. Modified diagnostic criteria include either presence of the classic triad or the presence of two of the classic triad plus at least two other major or supporting features. A gene for Aicardi syndrome has not been identified, but several observations support a hypothesis that Aicardi syndrome is caused by de novo pathogenic variants in a gene on the X chromosome that is subject to X-chromosome inactivation.
Management: Treatment of manifestations: Treatment is individualized and long-term management by a pediatric neurologist with expertise in management of infantile spasms and medically refractory epilepsy is essential. Physical therapy, occupational therapy, and speech therapy should begin at the time of diagnosis. Appropriate musculoskeletal support and treatment for prevention of scoliosis-related complications is indicated.
Surveillance: Includes routine monitoring of growth, nutritional status and safety of oral intake, seizure control, developmental progress and educational needs, respiratory function and aspiration risk, and the spine and degree of scoliosis.
Genetic counseling: With the exception of affected monozygotic twin girls, all individuals with Aicardi syndrome reported to date have represented simplex cases (i.e., a single affected family member). Parent-to-child transmission of Aicardi syndrome has not been reported, and the recurrence risk to sibs is thought to be less than 1%. While prenatal ultrasound or intrauterine MRI findings of corpus callosum agenesis and neuronal migration abnormalities may be suggestive of Aicardi syndrome, no findings are diagnostic.
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