Agenesis of the Corpus Callosum, Pediatric

Agenesis of the corpus callosum (ACC) is a rare brain abnormality. With this condition, part of the brain, called the corpus callosum, is partially or completely missing. The corpus callosum connects the two sides of the brain (cerebral hemispheres). The condition is present from birth (congenital). It is usually diagnosed within the first two years of life.

ACC may occur alone or in combination with other brain problems or medical conditions. Many children with this condition will lead normal lives. Others may have developmental problems or seizure disorders.

What are the causes?

In most cases, the cause of ACC is not known. A child may have this condition because of abnormal genes that are common in his or her family (inherited). The condition can also develop when a woman has an infection or drinks an excessive amount of alcohol while she is pregnant, because those factors can lead to problems in the development of the baby's brain.

What are the signs or symptoms?

Early symptoms of ACC usually include:

Seizures or uncontrollable shaking (convulsions).
Feeding problems.
Developmental delays, such as:
- Being unable to hold up one's head.
- Being unable to stand.
- Being unable to sit.
- Being unable to walk.

Other symptoms may include:

Poor mental and physical development.
Poor hand–eye coordination.
Poor social development.
Difficulty seeing and hearing.

In mild cases, symptoms may not appear for years. These can include:

Seizures.
Repetitive speech.
Headaches.

How is this diagnosed?

This condition may be diagnosed:

Before birth, during a routine pregnancy exam. A health care provider can discover the problem using images that are created by sound waves and a computer (ultrasound).
After birth, using imaging studies such as MRI, CT scan, or other brain scans.

How is this treated?

ACC is a lifelong condition that may require different treatments, depending on your child's symptoms. There is no standard treatment. Treatment usually involves managing symptoms or related conditions. It may include:

Having a drainage tube (shunt) placed in the brain.
Taking medicines to control seizures.

Developmental therapies and educational support and services are often offered as part of the treatment plan. They include:

Physical therapy.
Occupational therapy.
Speech-language therapy.
Special education.

Follow these instructions at home:

Learn as much as you can about ACC.
Work closely with your child's health care provider.
Give over-the-counter and prescription medicines only as told by your child's health care provider.
Keep all follow-up visits as told by your child's health care provider. This is important. Follow-up visits include therapy appointments, if required.

Contact a health care provider if:

Your child's feeding problems get worse.
Your child has more developmental, mental, or physical delays.
Your child has increased difficulty seeing or hearing.
Your child's hand–eye coordination worsens.
Your child's headaches worsen.
Your child's speech is increasingly repetitive.

Get help right away if:

Your child has a seizure.
Your child has trouble breathing.

Summary

Agenesis of the corpus callosum is a problem with the brain's development. It can be diagnosed before birth (in utero) or during the first few years of life.
This condition usually occurs along with other brain problems or medical conditions.
Working closely with a health care provider can help ensure that your child receives the therapy and support that he or she needs.