Aicardi-Goutières-Syndrom

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).

Note: Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named after Jean Aicardi (see below).

Clinical presentation

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

Pathology

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

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

History and etymology

First described in 1961 by Jean Francois Marie Aicardi (1926-2015), a French neuropaediatrician .

Siehe auch:

• Spina bifida
• Blockwirbel
• Skoliose
• Kolpozephalie
• Heterotopie der grauen Substanz
• Karzinom des Plexus choroideus
• Polymikrogyrie
• Plexuspapillom
• Mikrophthalmus
• Kolobom
• Halbwirbel
• Balkenmangel
• Dandy Walker continuum
• Dysgenesie des Corpus callosum

und weiter:

• Xanthogranulome des Plexus choroideus
• angeborene Wirbelanomalien
• Myeloschisis
• fetal intra-cranial cystic lesions
• Akrokallosales Syndrom