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Aicardi syndrome

Radswiki and Dr Frank Gaillard et al.

The Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47-XXY cases).

The typical presentation in infancy is with a triad of

infantile spasms - salaam seizures with typical bowing of the head
corpus callosal dysgenesis - most consistent feature
distinctive chorioretinal lacunae - pathognomonic

Characteristic malformations affect the brain, spine and eyes : They include

brain
- agenesis of the corpus callosum
- colpocephaly
- grey matter heterotopia
- asymmetry of cerebral hemispheres
- posterior fossa abnormalities (95%) / Dandy-Walker continuum
  - posterior fossa cyst
  - cerebellar hypoplasia
  - tectal enlargement
- choroid plexus papilloma (CPP)
- choroid plexus carcinoma (CPC)
- polymicrogyria (predominantly frontal and perisylvian)
- intracranial cysts (diameters range between 1.0 - 5.0 cm)
  - midline inter hemispheric : 81%
  - intraventricular : 29%
  - parenchymal : 10%
  - extra-axial : 8%
ocular
- microphthalmia
- coloboma
- chonioretinopathy
- eyelid twitching
- absent pupillary reflexes
- funnel-shaped disks
spine
- scoliosis
- spina bifida
- butterfly or block vertebrae
- hemivertebrae
- abnormal costovertebral articulation

Etymology

First described in 1961 by Jean Francois Aicardi : French paediatrician (b. 1926) ²

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