Aicardi syndrome

Case contributed by Jane McEniery
Diagnosis certain


Infantile spasms

Patient Data

Age: 6 months
Gender: Female

Multiple congenital anomalies are present:

  • agenesis of the corpus callosum
  • subependymal heterotopia lining the lateral ventricles
  • arachnoid cyst in the right cerebellopontine angle
  • arachnoid cyst in the interhemispheric plane
  • polymicrogyria in the superior right frontal lobe and inferior left frontal lobe
  • right sided posterior ocular coloboma

Myelination pattern is appropriate for the patient's age of 6 months.

Case Discussion

Multiple congenital anomalies are present. In this instance, the underlying diagnosis is Aicardi Syndrome. 

Case contributed by Dr Anubhav Sarikwal.

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