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Aicardi Syndrome

What is Aicardi Syndrome?

Aicardi Syndrome is a rare genetic disorder characterized by the partial or complete absence of the structure that links the two hemispheres of the brain. The structure that links the two hemispheres of the brain is called the corpus callosum. Aicardi syndrome affects only girls. However, in very rare cases, males with Klinefelter syndrome.

Aicardi syndrome usually begins between the ages of 3 and 5 months with infantile spasms, a type of childhood seizure. Aicardi syndrome may be associated with other brain defects such as a smaller than average brain and cavities or gaps in the brain filled with cerebrospinal fluid. Aicardi syndrome was first identified in 1965 by a French neurologist named Dr. Jean Aicardi.

Symptoms of Aicardi Syndrome

The most common symptoms of aicardi syndrome are:

  • infantile spasms
  • mental retardation
  • growths on the retina of the eye
  • growths on the optic nerve
  • blindness

Can Aicardi Syndrome be Treated?

Currently there is no cure for Aicardi Syndrome. Treatment involves medical management of seizures and programs to help parents and the child cope with developmental delays.

How is Aicardi Syndrome diagnosed?

If a doctor suspects a child may have Aicardi Syndrome, he will order several tests.

Children are diagnosed with Aicardi Syndrome if they meet the following criteria:

  • Female sex (or XXY genotype male)
  • Retinal lesions
  • Seizures (typically beginning as infantile spasms)
  • Complete or partial absence of the corpus callosum

However, in rare cases, one of the features, especially lack of development of the corpus callosum, may be missing. If the corpus callosum is developed, the doctor will perform a few more tests. A diagnosis of Aicardi Syndrome is probable if two or more of the following criteria are present:

  • Abnormal formations in the brain such as microgyria (the bumps on the brain are abnormally narrow)
  • Periventricular and subcortical heterotopia, a misplacement of groups of neurons in the brain sometimes found in seizure disorders
  • Cysts in specific areas of the brain
  • Benign, non-cancerous tumor found in a specific section of the brain
  • Optic disc or nerve coloboma

The doctor will probably perform the following tests:

  • Eye exam
  • CT scan of the head
  • MRI
  • EEG

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