Schizencephaly is a rare birth defect. It causes slits or clefts in the cerebral hemispheres of your brain. These clefts may appear on one or both sides of your brain. They may be filled with cerebrospinal fluid.
The symptoms of schizencephaly can vary depending on whether you have clefts on both sides of your brain, which are bilateral, or only one side, which are unilateral.
Unilateral clefts almost always produce paralysis on one side of your body. Most people with unilateral clefts have normal to near normal intelligence.
Bilateral clefts tend to cause more serious symptoms than unilateral clefts. They often cause developmental delays, including delays in learning speech and language skills. They can also cause problems with movement due to poor communication between your brain and spinal cord.
Other symptoms of schizencephaly can include:
- poor muscle tone
- partial or complete paralysis
- a smaller than normal head
- accumulation of excess fluid in your brain
- recurring seizures
The exact cause of schizencephaly is unknown. Some people have genetic and vascular theories about the possible causes.
People have linked some cases of the condition to certain medications or infections that can disrupt blood flood in developing infants.
Some people with schizencephaly have mutations in one of these genes:
Cases of schizencephaly in siblings also point to a possible genetic cause.
Schizencephaly is a rare disorder. According to the Genetic and Rare Disease Information Center, the estimated prevalence is 1 out of every 64,935 births in the United States.
Since the exact cause of the disorder is unknown, it’s hard to pinpoint risk factors. A few possible risk factors include:
- having a young mother
- having certain genetic mutations
- having a sibling, especially an identical twin, with schizencephaly
- exposure to certain medications or infections that can disrupt blood flow before birth
If you have a family history of schizencephaly, genetic testing may be available to help you assess the risk of having a child with the condition. Ask your doctor for more information.
Your doctor will likely use MRI to diagnose schizencephaly. The images created by MRIs have better definition than CT scans. MRIs can also create images of multiple parts of your brain.
If your doctor finds telltale clefts in one or both cerebral hemispheres of your brain, they’ll diagnose you with schizencephaly.
No known cure for schizencephaly exists, but your doctor may prescribe a variety of treatments to help manage your symptoms, treat complications, and improve your quality of life.
Your doctor may prescribe medication to help prevent seizures. If cerebrospinal fluid (CSF) has accumulated in your brain, your doctor may refer you to a surgeon to insert shunts. These devices will redirect the CSF to other parts of your body that can harmlessly reabsorb it.
At least three different kinds of therapists can help people with schizencephaly live more independently and improve their quality of life:
- Physical therapists can help you improve your gross motor movements, such as your ability to stand and walk. They can also help you strengthen your arms and legs.
- Occupational therapists can help you improve your fine motor movements, such as your ability to feed yourself and get dressed. They can also help you make your home and work environments accessible.
- Speech therapists can help you learn to speak or swallow more effectively.
Because so little is known about this schizencephaly, researchers are often looking for people who have the condition to participate in clinical trials. Many trials offer free treatments, such as medications or therapies. Before deciding to sign up for a clinical trial, speak to your doctor and read all of the research materials closely.
Because it’s so rare, little is known about the long-term outlook for this disorder. It may depend on the size and location of your clefts, as well as your symptoms and disabilities. Ask your doctor for more information about your specific condition, treatment options, and outlook.