Characteristics/Symptoms

Not all people with aicardi have these physical characteristic and/or symptoms. 

Aicardi was classically diagnosed by a traid of findings. As more individuals and families were identified, it became clear that there were additional major findings that helped make the diagnosis in individiauls with only two of the triad. Therefore, there is evidence to suggest that two of the three findings in the triad (below), accompanied by at least two other major findings, may also indicate the diagnosis is appropriate.

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Corpus callosum is the part of the brain which sits between the right and the left sides of the brain and allows the right side to communicate with the left.

  • Many girls develop seizures prior to age 3 months and most by 1 year
  • Medically refractory (difficult to prevent) epilepsy with a variety of seizure types that develop over time
  • Treatment often requires multiple anti-seizures drugs, ketogenic diet, or vagus nerve stimulator

  • Lesions or lacunae of the retina of the eye
    • Lesions can be unilateral, bilateral, and asymmetric
    • Can have other eye problems
    • Some visual problems may lead to blindness

Other common findings:

  • Microcephaly (small brain), trunk hypotonia, and limb hypertonia with spasticity
  • Other developmental brain abnormalities
  • Underdevelopment of the optic nerve
  • Low muscle tone in the trunk with increased muscle tone in the extremities
  • Moderate to significant developmental delay and intellectual delay
    • In some cases,  mild to no learning disabilities are also reported
  • Rib/vertebral defects are common
    • Can lead to scoliosis in up to 1/3 of affected individuals
    • Hip dysplasia
  • Characteristic facial features
    • Short philtrum (space between nose and mouth)
    • Prominent upper jaw with upturned nasal tip and decreased angle of nasal bridge
    • Large ears, sparse lateral eyebrows
  • Gastrointestinal difficulties
    •  Parents report that issues may be difficult to manage
      • Constipation
      • Gastro esophageal reflux
      • Diarrhea
      • Feeding difficulties. Child may have a feeding tube.

Other reported findings that may be present but are not common:

  • Small hands
  • Blood vessel malformations
  • Pigmented areas of the skin
  • Increased incidence of tumors
  • Lower growth rate after ages 7-9
  • Early or delayed puberty
  • Difficulties regulating body temperature (extreme heat or cold)
  • Some women in their 30's have this condition. However, life expectancy is variable and may be related to the severity of the seizures.