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).

Clinical features
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
Pathology
Characteristic malformations affect the brain, spine and eyes and include:

brain
agenesis of the corpus callosum
colpocephaly
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 (CPP)
choroid plexus carcinoma (CPC)
polymicrogyria (predominantly frontal and perisylvian)
intracranial cysts (diameters range between 1.0-5.0 cm)
midline inter hemispheric: 81%
intraventricular: 29%
parenchymal: 10%
extra-axial: 8%
ocular
microphthalmia
coloboma
chonioretinopathy
chorioretinal lacunae
eyelid twitching
absent pupillary reflexes
funnel-shaped disks
spine
scoliosis
spina bifida
butterfly or block vertebrae
hemivertebrae
abnormal costovertebral articulation
History and etymology
First described in 1961 by Jean Francois Aicardi, French paediatrician born in 1926
2.