A disorder that affects only females and is characterized by the triad of partial or complete agenesis of the corpus callosum, infantile spasms (spasm-like epilepsy), and distinctive chorioretinal lacunae. This syndrome often associated with other features, such as mental retardation, microcephaly, and porencephalic cysts. Onset is generally between 3 and 5 months of age.
Corpus Callosum Agenesis-Ocular Anomalies-Salaam Seizures Syndrome; Chorio-Retinal Anomalies-Corpus Callosum Agenesis-Infantile Spasms Syndrome; Corpus Callosum Agenesis-Chorio-Retinopathy Infantile Spasms Syndrome; Corpus Callosum Agenesis-Chorio-Retinal Abnormality Syndrome.
First described in 1965 by Jean François Marie Aicardi (et al), a French neurologist (1926–2015).
Worldwide, approximately 500 patients are affected. The estimated incidence is in the range of 1 in 100,000 to 1 in 150,000 live births.
Transmitted as an X-linked dominant trait with embryonic lethality in hemizygous males. Yet, three male patients (47-XXY) with Aicardi Syndrome have been reported. The defect most likely maps to chromosome Xp22. However, except for two sisters, all cases are caused by de novo mutations.
Thanks to modern imaging techniques, the initial spectrum of Aicardi Syndrome with the classic triad has been broadened and now also includes several novel and important features (cortical polymicrogyria, periventricular heterotopia, cysts of the choroid plexus and/or the pineal gland or the periventricular interhemispheric regions, and gross asymmetry of the hemispheres; see also below). Furthermore, a small proportion of affected girls show only mild or moderate developmental delay. Aicardi Syndrome is most often diagnosed between the age of 0 and 7 months (mean 9 weeks). Initially, affected girls seem to often develop normally before they begin to have infantile spasms. Asynchrony in the EEG between the cerebral hemispheres can be documented in almost all patients. The combination of myoclonic seizures with the characteristic EEG pattern (periodic, asynchronous discharges from both hemispheres without hypsarhythmia), lacunar chorioretinopathy, and complete (in 72% of patients) or partial agenesis (28%) of the corpus callosum with a high rising third ventricle usually points to the diagnosis (however, corpus callosum agenesis is not specific for Aicardi Syndrome). However, hypsarhythmia, an asynchronous burst-suppression pattern typically seen with infantile spasms, could be documented in two-thirds of these patients. Despite combined anti-seizure therapy, more than half of these patients still experience at least one seizure per day. Developmental delay, most often significant, affects almost all patients. The chorioretinal lacunae are considered pathognomonic and appear as multiple, bilateral, white-yellowish and “punched-out” lesions with sharp demarcations that often lack (in contrast to similar lesions in congenital infections) surrounding hyperpigmentation. The sensory retina covering the lacunae is usually intact but can be disorganized or entirely absent. In addition, retinal, choroid, or optic nerve colobomas have been described. Characteristic facial features may include a prominent premaxilla with an upturned nasal tip, decreased angle of ...