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Aicardi syndrome - an update

Aicardi syndrome (AS) is a rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. Additional major features consist of cortical malformations, periventricular/subcortical heterotopia, intracranial cysts, and optic nerve coloboma or hypoplasia. Examination findings include microcephaly, axial hypotonia, and appendicular hypertonia along with spasticity. Seizures tend to develop before the age of three months and may become refractory thereafter; EEG typically shows asynchronous multifocal epileptiform discharges with burst suppression and interhemispheric dissociation. AS is an X-linked dominant condition with lethality in males – therefore affecting primarily girls; the exact genetic basis of AS is yet to be identified. Generally, these patients’ neurocognitive outcome is poor. Management includes antiseizure treatment, physical/occupational/speech/vision therapy, and orthopedic assessment and treatment.^1,2,3

References  

1. Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 1965;19:609-610.  

2. Aicardi J. Aicardi syndrome. Brain Dev 2005;27:164-171.

3. Fariello RG, Chun RW, Doro JM, Buncic JR, Prichard JS. EEG recognition of Aicardi’s syndrome. Arch Neurol 1977;34:563-566.
 

Submitted by Fábio Augusto Nascimento e Silva, MD — Baylor College of Medicine, Houston, TX.

Dr. Nascimento is the author of two pieces on Dravet syndrome for UpToDate, an editorial board member of Epileptic Disorders, and a member of the Neurology Resident and Fellow section team.