Aicardi syndrome

Case contributed by Ammar Haouimi
Diagnosis almost certain

Presentation

Seizures with chorioretinal lacunae on the ophthalmological exam.

Patient Data

Age: 8 years
Gender: Male
mri

The MRI sequences demonstrate multiple congenital anomalies:

  • agenesis of the corpus callosum with widely spaced lateral ventricles racing car sign
  • colpocephaly
  • grey matter heterotopia mainly left peritrigonal
  • abnormal gyration/polymicrogyria at the right frontal region
  • interhemispheric cyst
  • choroid plexus cysts
  • left occipital cyst with a mass effect on the trigone of the lateral ventricle

Case Discussion

The clinical presentation and the MRI features are most consistent with Aicardi syndrome.

 

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