Aicardi syndrome

Destinee Sanders

Aicardi syndrome -

A rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms.

What causes this? Can it be prevented?

The exact cause of Aicardi syndrome isn’t known so there is no way to tell how to prevent it. However, it’s thought to be caused by a first-time mutation in the child’s genes. Since the disorder primarily affects females, researchers believe the mutation specifically occurs on the X chromosome, which is one of the two sex hormones. Females have two X chromosomes. Males typically have one X.

What are the symptoms and effects of the condition

Symptoms usually appear in babies around 2-5 month. Child may be jerking or having infantile spams ( a type of seizure that occurs in infants) child may also develop yellowish spots on their eyes.

  • partial or complete absence of the corpus callosum
  • chorioretinal lacunae, or lesions in the light-sensitive layer of tissue at the back of the eye
  • Some have very severe seizures that result in death in childhood and some have very mild symptoms and may live well into adulthood
  • a hole or gap in one of the structures of the eye
  • really small eyes
  • really small head
  • hand deformities
  • intellectual disabilities
  • developmental delays
  • difficulty eating
  • spasticity, which is a condition that causes stiff and rigid muscles

How is the condition detected? What treatment options are available?

Brain imaging and ophthalmology exam prenatal ultrasound examination or fetal MRI may detect some features which may raise the possibility for the diagnosis. The treatment for aicardi syndrome includes a number of medical and therapeutic specialties.