Citation, DOI & article data
Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47, XXY cases).
Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named after Jean Aicardi (see below).
Due to its rarity, epidemiological data is limited, however its incidence has been postulated ~1/100000 with a prevalence of over 850 cases in the US and 4,000 globally. No ethnicity bias has been found 5.
The typical presentation in infancy is with a triad of:
- infantile spasms: salaam seizures with typical bowing of the head
- corpus callosal dysgenesis: most consistent feature
- distinctive chorioretinal lacunae: pathognomonic
Characteristic malformations affect the brain, spine and eyes and include:
- agenesis of the corpus callosum
- grey matter heterotopia
- asymmetry of cerebral hemispheres
- posterior fossa abnormalities (95%), including Dandy-Walker continuum:
- posterior fossa cyst
- cerebellar hypoplasia
- tectal enlargement
- choroid plexus papilloma
- choroid plexus carcinoma
- polymicrogyria (predominantly frontal and perisylvian)
intracranial cysts (diameters range between 1.0-5.0 cm)
- midline interhemispheric: 81%
- intraventricular: 29%
- parenchymal: 10%
- extra-axial: 8%
- spine and ribs
History and etymology
First described in 1961 by Jean Francois Marie Aicardi (1926-2015), a French neuropaediatrician 2.
- 1. Mehta R, Marks M, Levin P. Aicardi's Syndrome: MR Appearance of Unusual Orbital and Ventricular Cystic Lesions. AJR Am J Roentgenol. 1993;160(3):601-3. doi:10.2214/ajr.160.3.8430563 - Pubmed
- 2. Stephenson J. In Memoriam: Professor Jean Aicardi (1926-2015). Pediatr Neurol. 2016;54:3-4. doi:10.1016/j.pediatrneurol.2015.09.006 - Pubmed
- 3. Hopkins B, Sutton V, Lewis R, Van den Veyver I, Clark G. Neuroimaging Aspects of Aicardi Syndrome. Am J Med Genet A. 2008;146A(22):2871-8. doi:10.1002/ajmg.a.32537 - Pubmed
- 4. Barkovich A & Norman D. Anomalies of the Corpus Callosum: Correlation with Further Anomalies of the Brain. AJR Am J Roentgenol. 1988;151(1):171-9. doi:10.2214/ajr.151.1.171 - Pubmed
- 5. V Reid Sutton & Ignatia B Van den Veyver. Aicardi Syndrome. University of Washington, Seattle. 2020. https://www.ncbi.nlm.nih.gov/books/NBK1381/ - Pubmed