Aicardi Syndrome

Aicardi syndrome is an extremely rare inherited condition, and it affects females only. It is estimated that there are only between 300 and 500 cases of this syndrome in the world.

The effects and symptoms of Aicardi syndrome

Aicardi syndrome occurs when there is partial or full absence of the corpus callosum, the nerve fibre structure, which separates the right and left hemispheres of the brain.

Symptoms of Aicardi syndrome include:

  • seizures and spasms
  • chorioretinal lacunae (an eye disorder that occurs when small holes form in the retina)
  • severe learning difficulties and delayed development
  • speech and language problems and a lack of expression
  • problems with balance
  • disrupted sleep patterns, usually due to seizures

Some children with Aicardi syndrome also have a cleft lip and palate, curved spine (scoliosis) and display anger and aggression.

What is the prognosis for Aicardi syndrome?

The prognosis for Aicardi syndrome is poor. Many children die at an early age and those who do live longer are likely to experience delayed development and impaired physical and cognitive skills.

How is Aicardi syndrome diagnosed?

Abnormalities, which affect the structure of the brain, can be identified using scans including MRI and CT scans and ultrasound scans during pregnancy.

Is there a cure?

The aims of treatment are to make children feel as comfortable as possible and facilitate development. Sadly, most children will die at a very early age. Children with Aicardi syndrome are treated by a multi-disciplinary team, which may be made up of paediatricians, neurologists, physiotherapists, speech and language therapists, occupational therapists and specialist teachers.

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