Abstracts

Rationale: Aicardi syndrome (AS) is a disorder characterized by the triad: corpus callosum agenesis, infantile spasms and chorioretinal lacunae. The long-term evolvement of AS is severe due to high early mortality, considerable morbidity and poor developmental outcome. Few adult cases have been reported. Here we review two adult cases of AS, aged 24 and 27, their varying clinical spectrums and long-term evolution.Methods: We conducted a retrospective chart review on patients diagnosed with AS examining their psychomotor development, family history, seizure frequency, seizure classification, current antiepileptic drug (AED) use, MRI findings, continuous video-EEG recordings containing seizures, systemic problems and overall treatment. Out of 1600 patients seen in our Epilepsy Clinic, we identified two patients with confirmed clinical diagnosis of AS. Results: Both patients diagnoses at a few months of age were based upon the classic triad of infantile spasms, corpus callosum agenesis and chorioretinal lacunae. Infantile spasms began six weeks after delivery. Neither patient has any family history of similar illness. Both patients experience multiple seizure types daily and take more than three AEDs. Seizure control has moderately improved with medication. Each patient exhibits some form of psychomotor impairment and varying degrees of mental retardation. Medical problems these patients face are bladder/bowel retention and severe hypoxemia during tonic-clonic seizures. Conclusions: We present two adult Aicardi cases, the clinical spectrum and long-term evolution. Although there have been numerous case studies and literature reviews on infant and child Aicardi cases, few adult cases have been reported as not many patients live to adulthood. The long-term evolution of Aicardi syndrome is severe. Seizure frequency and severity do not improve as the patients age. However other signs of neurodegeneration (such as those seen in Rett syndrome, or Dravet syndrome) were not observed in our adult cases.