Table 1.

Select Features of Aicardi Syndrome

Feature% of Persons
w/Feature		Comment
Neurologic Seizures>95%Nearly all present w/infantile spasms in 1st mos of life; various other seizure types develop over time.
ID/DD100%Many have severe-profound ID & do not develop language or ability to walk or sit independently; however, the degree of developmental impairment varies.
Structural brain
malformations		100%While agenesis of the corpus callosum is part of the classic triad, virtually all have other brain malformations (e.g., heterotopias, cysts).
Ocular Chorioretinal
lacunae		100%Typically in central part of retina (not periphery); may cause visual impairment if they involve the macula; may be bilateral or unilateral
Optic nerve
abnormalities		>90%Colobomas & hypoplasia of optic nerves are common & → visual impairment.
Other Costovertebral
abnormalities		~50%Fusion of vertebrae & ribs can be seen, often (along w/severe hypotonia) → scoliosis.

DD = developmental delay; ID = intellectual disability

From: Aicardi Syndrome

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