Fact-sheet: Aicardi syndrome
Updated on 03/26/2020 at 8:39 AM
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Definition
Rare genetic disorder caused by an X-linked chromosome, fatal in males, and therefore only manifesting in female patients.
A triad is found: dysgenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae.
Cortical malformations, gray matter heterotopia, and choroid plexus cysts are also found.
Clinical features
Infantile spasms.
Severe motor and cognitive impairment.
MRI
Agenesis of corpus callosum.
Gray matter heterotopia.
White matter abnormality.