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Aicardi syndrome

Case contributed by Frank Gaillard
Diagnosis almost certain

Patient Data

Age: 16 years
Gender: Female
ct

Corpus callosum dysgenesis with wide 'racing car' ventricles. Right periventricular heterotopia also noted. 

mri

Partial agenesis of the corpus callosum, grey matter heterotopia (best seen at the trigone of the left lateral ventricle) and abnormal gyration/polymicrogyria (best seen involving the left frontal lobe). 

Case Discussion

This patient had confirmed Aicardi syndrome, and these features are recognized as part of this syndrome, although not pathognomonic of it. 

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