Aicardi syndrome

Case contributed by Abdulrahman Abdo Ali Abbas
Diagnosis almost certain


Infantile spasm seizure (typical salaam seizures with bowing of the head)

Patient Data

Age: 7 months
Gender: Female

The hallmark of the study shows:-

  • thinning out of the body of corpus callosum and partial agenesis of the corpus callosum
  •  left frontal lobe grey matter heterotopia 
  • a small cyst is seen in the cistern of velum interpositum.

Case Discussion

Aicardi syndrome is a rare neurodevelopmental disorder characterized by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral heterotopias, intracranial cysts, and costovertebral defects.

The main clinical features were developmental retardation and intractable epileptic seizures with typical infantile spasm, Ophthalmoscopic examination revealed pathognomonic chorioretinopathy. 

A characteristic EEG pattern was found in all cases.



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