Colpocephaly

What is colpocephaly?

Colpocephaly is a brain abnormality that some people are born with (congenital condition). This condition affects the part of the brain called the occipital horns of the ventricles. Ventricles are cavities in the brain that produce and distribute cerebral spinal fluid (CSF), which is important for a number of brain functions.

Colpocephaly causes the occipital horns to become too large. This often happens if the surrounding areas of the brain are under- or incompletely developed.

How does colpocephaly change the brain’s structure?

The human brain includes cavities called lateral ventricles. These ventricles produce cerebrospinal fluid (CSF) that moves throughout the brain. CSF cushions the brain, carries nutrients and removes waste products. The occipital horns are at the back of the lateral ventricles.

In people with colpocephaly, tissue that helps nerves in the brain communicate (white matter) doesn’t develop. Because white matter doesn’t take up the space it should, the occipital horns become too large.

How common is colpocephaly?

Colpocephaly is not common. Researchers have studied only about 50 cases of colpocephaly in the U.S. since 1940.

Are there other conditions like colpocephaly?

Colpocephaly is one of the cephalic disorders. These conditions affect the body’s nervous system. Colpocephaly affects the central nervous system, which includes the brain and spinal cord.

Can adults have colpocephaly?

Some people are not diagnosed with colpocephaly until adulthood, but this is extremely rare. Researchers know about very few people who were diagnosed as adults.

What causes colpocephaly?

Colpocephaly occurs because certain portions of the brain surrounding the ventricles are underdeveloped. This usually occurs due to changes in the genes involved in helping form your brain.

What are some colpocephaly symptoms?

Changes in the brain’s structure can cause certain symptoms in babies, including:

• Developmental disabilities.
• Difficulty with coordination and motor function.
• Small head size (microcephaly).

Other symptoms may include:

• Vision problems.
• Speech and language difficulties.
• Hearing problems.

Is colpocephaly contagious?

No. You can’t catch colpocephaly.

How is colpocephaly diagnosed?

Healthcare providers may diagnose this condition during pregnancy. Providers may also diagnose some babies after they’re born.

What tests diagnose colpocephaly?

Sometimes, healthcare providers diagnose colpocephaly while you are pregnant during a prenatal ultrasound. If your provider detects signs of the condition after your baby is born, they may recommend:

• CT scan.
• MRI.
• Ultrasound.
• Genetic testing.

Is colpocephaly hard to diagnose?

Healthcare providers may mistake colpocephaly for hydrocephalus. This is another brain condition that affects some babies and has some of the same symptoms.

Is colpocephaly curable?

Colpocephaly isn’t curable. But healthcare providers can treat some of the symptoms the condition causes. Talk with your provider to learn more about treatments that can help your baby.

How is colpocephaly treated?

Healthcare providers use certain treatments and therapies to manage the symptoms of colpocephaly. These treatments include:

• Anticonvulsant medications to help control or prevent seizures.
• Exercises to help build up and strengthen muscles.
• Orthopedic appliances like braces and orthotics to help prevent muscles from becoming shorter.
• Therapy services to improve motor function.
• School supports to help with learning.

How can I reduce my baby’s risk of developing colpocephaly?

There’s no way to prevent colpocephaly. But you can take steps to have the healthiest pregnancy possible. Talk with your healthcare provider about the prenatal care that’s right for you.

Are there other conditions that might put my baby at higher risk of colpocephaly?

Different factors might contribute to colpocephaly. But researchers can’t say for sure whether certain conditions put your baby at higher risk. Let your healthcare provider know if you:

• Had toxoplasmosis infection during pregnancy.
• Have someone in your family who had colpocephaly.
• Took corticosteroids during pregnancy.

What can I expect if my child has colpocephaly?

Your child’s outlook depends on their brain’s structure. If brain malformation is severe, they may have many symptoms.

Your healthcare provider will recommend treatments and interventions that can help your child. These might include:

• Exercises (rehabilitation therapies) to help with physical, mental and cognitive challenges.
• Special education services to help with learning disabilities.

What’s the prognosis for a child with colpocephaly?

Life expectancy often depends on the severity of the child’s symptoms and if they have other disorders of the central nervous system. Your child’s care team will work with you and your child to keep them healthy and manage symptoms.

How can I help my child with colpocephaly live a healthy life?

You can help your child live a healthy life by communicating regularly with their healthcare provider. Providers are important partners in connecting you with resources that can help your child.

What should I ask my healthcare provider about colpocephaly?

Be sure to ask your healthcare provider:

• How can I best care for my child?
• What symptoms should I report immediately?
• When should I be concerned about changes in behavior?
• What therapies do you recommend for my child?
• What educational resources can help my child?

A note from Cleveland Clinic
Learning that your baby has colpocephaly can be difficult. Talk with your healthcare provider about your child’s symptoms. Your provider can recommend treatments and therapies to manage these symptoms. They will work with you to help keep your baby healthy.