Definition

What is Aicardi syndrome?

Aicardi syndrome is a rare genetic disorder that interferes with the formation of the corpus callosum, which is the structure that connects the two sides of the brain. In people with Aicardi syndrome, the corpus callosum is either partially or completely missing. The disorder occurs almost exclusively in newborn girls. Medical researchers don’t believe the disorder is passed from the parents to their child.

How common is Aicardi syndrome?

Aicardi syndrome is a rare condition. Researchers estimate that there are approximately 4,000 affected individuals worldwide. It occurs almost exclusively in females. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Aicardi syndrome?

The common symptoms of Aicardi syndrome are:

  • Jerking
  • Infantile spasms
  • Yellowish spots on the eyes
  • Lesions on the retina
  • A hole or gap in one of the structures of the eye
  • Abnormally small eyes
  • An unusually small head
  • Hand deformities
  • Intellectual disabilities
  • Developmental delays
  • Difficulty eating
  • Diarrhea
  • Constipation
  • Gastroesophageal reflux
  • Spasticity, which is a condition that causes stiff and rigid muscles

Additional symptoms of Aicardi syndrome include rib and spine abnormalities, such as scoliosis. Children with this disorder may also have unusual facial features, such as a flatter nose, larger ears, or a smaller space between the upper lip and nose. Since Aicardi syndrome can result in poorly developed eyes, children may experience impaired vision or blindness.

Researchers have also found that the brains of children with Aicardi syndrome may have fewer folds and grooves than a normal brain. Fluid-filled cysts may also be present in the brain.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If your child has any signs or symptoms listed above or if you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Aicardi syndrome?

The cause of Aicardi syndrome is currently unknown. Because the syndrome almost only affects females, it is believed to be caused by a change (mutation) in a gene located on the X-chromosome and inherited in a dominant X-linked manner. However, most cases are de novo, which means the genetic change happened by mistake during the making of the eg

Risk factors

What increases my risk for Aicardi syndrome?

The lack of information on what causes Aicardi syndrome makes it difficult to determine the risk factors for this condition. Please discuss with your doctor for further information.

 

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Aicardi syndrome diagnosed?

Doctors can usually diagnose Aicardi syndrome based on the symptoms. However, since each child may present different symptoms, additional tests may be needed. Some tests that are used to help doctors make a diagnosis include:

  • Eye exams
  • An electroencephalogram (EEG), which evaluates the electrical activity of the brain and detects seizure activity
  • An MRI or CT scan, which provides detailed anatomical images of the head and brain

How is Aicardi syndrome treated?

There’s no cure for Aicardi syndrome at this time. However, some symptoms can be managed with treatment. The most common method of treatment involves controlling the seizures and spasms brought on by the disorder. There are also programs available to help both children and their parents cope with the intellectual disabilities and developmental delays that usually accompany Aicardi syndrome. Your child’s doctor will likely refer you to a pediatric neurologist for further evaluation. A pediatric neurologist is a doctor who specializes in treating nervous system disorders in children. They can help your child with long-term management of Aicardi syndrome. Doctors in these other fields may also be may also be consulted based on the symptoms and severity of the syndrome:

  • Neurosurgery
  • Ophthalmology
  • Orthopedics
  • Gastroenterology
  • Physical therapy
  • Speech therapy
  • Occupational therapy

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Aicardi syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 19, 2019 | Last Modified: February 19, 2019

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