Colpocephaly is a rare genetic condition involving the enlargement of the rear parts of two brain cavities called the lateral ventricles. It’s most often diagnosed in infants.
Colpocephaly is commonly associated with:
- malformation of the corpus callosum (the part of your brain that connects the left and right hemispheres)
- Chiari malformations (a condition in which the lower part of your brain pushes on your spinal canal)
- lissencephaly (the absence of folds in the outer part of your brain, which is the cerebral cortex)
- microcephaly (an atypically small head)
Colpocephaly occurs due to problems with brain development in the womb, although healthcare professionals often cannot identify the exact cause.
Read on to learn more about colpocephaly, including its symptoms, treatment options, and potential causes.
Colpocephaly can cause signs and
- impaired intellectual development
- muscle spasms
- developmental delays
- atypically small head size (microcephaly)
- personality changes
- visual or hearing problems
- speech problems
Other conditions associated with colpocephaly can cause additional symptoms. For example, lissencephaly is also associated with:
- trouble swallowing
- congenital developmental irregularities of the limbs, fingers, and toes
- facial structure irregularities
Health experts believe that colpocephaly may result from disturbances in a child’s brain development in the
- genetic factors
- brain injury due to lack of oxygen (
anoxic brain injury)
gestational diabetes, possibly
In a small
Genetics of colpocephaly
Researchers are still investigating genetic factors that may contribute to the development of colpocephaly. In a
- underdevelopment of the corpus callosum
- structural differences in the parietal and temporal lobes
- intellectual disability
- delayed growth
Colpocephaly severity varies from person to person. The condition can cause many complications, including:
- learning disabilities
- developmental delays
- physical disabilities
It’s important to consult your child’s doctor any time your child has seizures or you notice other symptoms of neurological problems, such as developmental delays or difficulties with movement.
These problems have many possible causes. Doctors can order tests such as brain imaging to check for differences in your child’s brain. They can also recommend treatment options to manage your child’s symptoms and support their development.
A doctor may diagnose colpocephaly late in pregnancy, before your child is born, but it’s usually more accurately diagnosed after birth. When attempting to diagnose the condition before your child is born, doctors may misdiagnose it as hydrocephalus (the buildup of cerebrospinal fluid in the cavities in your child’s brain).
Colpocephaly is present from birth, and there’s no known cure. There’s also no treatment to reverse the structural differences in the brain.
Treatment for colpocephaly revolves around treating associated complications.
Researchers have not yet found any specific ways to prevent colpocephaly. You might be able to support your child’s development during your pregnancy by avoiding exposure to chemicals and infections that are linked to developmental irregularities.
The outlook for colpocephaly can vary significantly from person to person depending on the condition’s severity and on whether other structural brain differences are present. It isn’t a fatal condition but can create many challenges. However, some people with this condition never have noticeable symptoms.
You can support your child by speaking with their doctors regularly and seeking prompt medical attention if they experience complications such as seizures.
Here are some frequently asked questions people have about colpocephaly.
What conditions are associated with colpocephaly?
Colpocephaly is associated with conditions like:
- cerebral palsy
transsphenoidal encephalocele, in which brain tissue protrudes through the sphenoid bone oculocerebrocutaneous syndrome, which causes skin, eye, and nervous system issues
hereditary spastic paraplegia Axenfield-Rieger syndrome
Is colpocephaly progressive?
Colpocephaly is not a progressive condition. But hydrocephalus, a condition with similar symptoms and signs, can get progressively worse.
Colpocephaly can cause intellectual disability, seizures, difficulties with movement, and other issues. The condition is rare, and some people do not receive a diagnosis until adulthood.
It’s important to visit your child’s doctor as soon as possible if you suspect that your child has a condition that is interfering with their development or causing neurological symptoms such as seizures.