Aicardi syndrome

Case contributed by Heba Abdelmonem
Diagnosis probable

Presentation

Muscles twitches and visual problems.

Patient Data

Age: 6 months
Gender: Female
mri

The case included the following:

  • bilateral choroid plexus homogenously enhanced masses (choroid plexus papilloma)
  • agenesis of the corpus callosum with parallel orientation of both lateral ventricular bodies
  • interhemispheric cyst
  • left globe retrobulbar fluid containing cyst with posterior globe defect (coloboma)

Case Discussion

Aicardi syndrome is a syndrome of (seizures, visual troubles as well as corpus callosal dysgenesis). Many associations could be identified. The most likely cause is Aicardi syndrome.

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