Schizencephaly is a rare condition you’re born with that affects your brain. Symptoms can be mild or severe and usually show up early in life, though some may be diagnosed in adulthood.
What Is Schizencephaly?
Schizencephaly is a birth defect that causes irregular gaps, called clefts, in the brain. This affects the cerebral hemispheres, which are the largest parts of the brain and are responsible for movement, emotions, language, thought, memory, hearing, and vision.
The clefts or gaps can be filled with fluid and gray matter, and their size and location affects symptoms.
There are three types of schizencephaly:
Type 1. Also called trans-mantle schizencephaly, this type creates a cleft that extends from one side of the brain to the other. It contains gray matter but no fluid.
Type 2. This type is also called closed-lip schizencephaly and occurs when ridges are next to each other. This means the cleft is fused and fluid doesn’t escape the area.
Type 3. Also called open lip-schizencephaly, this type causes a cleft where ridges are separated. These clefts have fluid and gray matter.
These types can also be described as unilateral, where clefts occur on one side of the brain, or bilateral, where they appear on both sides of the brain. Bilateral clefts usually mirror each other but might not be the same size on each side. Unilateral clefts are more common.
What Causes Schizencephaly?
The exact cause of schizencephaly is unknown. Genetic changes might be responsible, but there may be other causes, too.
Around week 8 in the womb, brain cells start to move and form different areas of the brain. If your baby has a stroke during this time, damage to blood vessels can cause problems with cells and growth, leading to this birth defect.
Other schizencephaly causes can include:
- Infection during your pregnancy with viruses like Zika
- Metabolic disorders
- Alcohol use during pregnancy
- Drug use during pregnancy
- Injury from amniocentesis
Schizencephaly might also be more common in babies of young mothers.
What Are the Symptoms of Schizencephaly?
Symptoms can vary depending on the size of the cleft, as well as what part and how much of the brain is involved. Symptoms can be mild or severe and might be different for each person.
Closed-lip schizencephaly tends to be milder. Some people might not have any symptoms, or symptoms might appear in adulthood. Common symptoms include:
- Weakness or inability to move one side of your body, a condition called hemiparesis
- Motor delay, where fine and gross movement skills are slow to develop
- Seizures
Open-lip schizencephaly usually causes more symptoms, which can be severe. These include:
- Seizures
- Hydrocephalus, where there’s too much fluid build-up, which puts pressure on the brain
- Seizures
- Paralysis
- Intellectual disability
Unilateral schizencephaly usually causes paralysis on one side of the body and low muscle tone but is accompanied by average or near-average intelligence. Bilateral schizencephaly can be more severe, especially if it affects large areas of the brain. This can lead to severe disabilities and paralysis on both sides of the body.
Some people with schizencephaly also have an irregularly small head. This is called microcephaly.
How Is Schizencephaly Diagnosed?
Sometimes, schizencephaly can be diagnosed during pregnancy at your 20-week ultrasound. If your doctor suspects the baby has the condition, you will have a magnetic resonance imaging scan, or MRI scan, to confirm the diagnosis.
Schizencephaly isn’t always noticeable at birth, though, and some people are diagnosed later in childhood or even as adults. If you display symptoms, your doctor will do a computed tomography scan, called a CT scan, or an MRI to look at your brain. A CT scan uses X-rays to take pictures of your brain while an MRI uses magnets and radio waves.
How Is Schizencephaly Treated?
There is no cure for schizencephaly, and treatment depends on your symptoms. Seizures are a part of the disease, so your doctor will prescribe anti-seizure medication. If too much fluid builds up, they might insert a tube called a shunt to help move fluid to other areas of the body and keep pressure off the brain.
Other treatments include:
- Physical therapy to help build muscle tone and improve movement delays
- Occupational therapy to build self-care and daily life skills
- Speech therapy to help with language and feeding skills
What Is the Outlook for Schizencephaly?
The outlook for schizencephaly depends on the type and how much it affects the brain. It can cause severe symptoms and disabilities or only mild symptoms. This wide range of symptoms means those with schizencephaly can have long lifespans but may also experience complications.
Controlling fluid levels and epilepsy is an important part of treatment. You will need regular appointments with your doctor and therapists to maintain good health.