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Joseph Junewick, MD FACR
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Aicardi Syndrome

Case Detail

Anatomy: Brain-Spine
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 9 years ago
Updated: over 9 years ago
Tags: PEDS
Modality/Study Types: MR
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10 year old female with Aicardi syndrome.

Case Images


Aicardi Syndrome


MR – Sagittal T1 and axial T2 images show 1) agenesis of the corpus callosum, 2) right parietal closed lip schizencephaly, and 3) bilateral subependymal heterotopias.


Aicardi’s syndrome, first described in 1969 by the French pediatrician Jean Francois Aicardi, typically affects the brain, spine and eyes and is clinically manifested by infantile spasms, chorioretinopathy, and severe developmental delay. Intracranial abnormalities include agenesis of the corpus callosum, heterotopia of gray matter and migrational anomalies, choroid plexopathy, intracranial cysts, and Dandy-Walker continuum. Ocular anomalies include chorioretinopathy, microphthalmia, funnel-shaped optic discs and abnormal pupillary reflexed. Vertebral abnormalities include segmentation defects, scoliosis and spina bifida. This syndrome is limited to females and patients with at least 2 X-chromosomes.


Phillips HE, Carter AP, Kennedy JL, et al. Aicardi’s Syndrome; Radiologic Manifestations. Radiology (1978); 127:453-455.

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