Presentation
Seizures.
Patient Data
Age: 15 years
Gender: Female
From the case:
Aicardi syndrome
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The MRI sequences demonstrate:
dilated ventricular system mainly the left lateral ventricle with colopocephaly, communicating with the interhemispheric subarachnoid space
bilateral subependymal grey matter heterotopia
inferior vermian hypoplasia
Case Discussion
The MRI features are most consistent with Aicardi syndrome.
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). It is characterised by multiple malformations affecting the brain, eyes, spine and ribs.
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