Cortical Dysplasia

What is cortical dysplasia?

Cortical dysplasia is a rare condition that causes seizures. Healthcare providers also sometimes call it focal cortical dysplasia or FCD. It’s pronounced “core-TICK-el” ”dis-PLAY-zhee-uh.”

Cortical dysplasia affects your cerebral cortex. This is the outermost layer of your brain that controls your body’s movement, your thoughts, speech, memory, intelligence and personality.

”Dysplasia” is the medical term for any abnormal or unusual cells in your body. If you have cortical dysplasia, groups of cells in your cerebral cortex didn’t form properly before you were born.

Types of cortical dysplasia

Healthcare providers classify cortical dysplasia as one of three types depending on which sections (lobes) of your cerebral cortex it affects, or how the abnormal cells form in your brain.

Type 1. Abnormal cells formed in your cortex or made your brain cells organize in ways they shouldn’t. It can affect any lobe, but is most common in your brain’s temporal lobe or frontal lobe.

Type 2. Cells in your cerebral cortex are too big or look different than they should. Type 2 is more severe than type 1 and commonly affects the frontal and temporal lobes.

Type 3. This type happens when you have either type 1 or type 2 cortical dysplasia along with other abnormalities in your brain. These can include brain tumors, unusual blood vessels or lesions. It can affect any lobe depending on where the tumor formed or the injury damaged your brain.

What are cortical dysplasia symptoms?

Seizures are the most common symptom, including:

• Focal seizures. These start in one side of your brain and don’t spread to the other side. You might twitch, jerk or shake, but not everyone does.
• Tonic-clonic (grand mal) seizures. These seizures spread to affect both sides of your brain. They cause uncontrolled shaking or movement on both sides of your body.
• Infantile spasms. These are a special type of seizure that only affects children younger than 1. Babies having an infantile spasm quickly extend then flex their arms, legs and neck.

Seizures may start at any point in your life. Some people first have them as infants or children, but it’s possible you won’t experience the first seizure until adulthood.

You may also experience other symptoms like:

• Trouble concentrating
• Trouble learning new concepts or ideas
• Muscle weakness on one side of your body (hemiparesis)

Cortical dysplasia can also affect your brain’s physical structure. But only a healthcare provider will be able to see these symptoms using an MRI. They’ll identify changes in your brain’s cortex (gray matter).

What causes cortical dysplasia?

Cortical dysplasia is a genetic condition. A genetic change caused your brain to form differently than usual during fetal development.

Researchers can’t say for certain which genetic change causes it. They’re still studying potential causes.

Some experts think a genetic change that affects the MTOR pathway genes cause cortical dysplasia type 2. This gene produces a protein that helps your cells form and grow — especially in your brain. A genetic change that alters the MTOR genes may cause it to make different or incorrect kinds of cells.

How is cortical dysplasia diagnosed?

A healthcare provider will diagnose cortical dysplasia with imaging tests.

Tell your provider which kinds of symptoms you’ve noticed and when they first happened. If you can, tell your provider any details about the kinds of seizures you’ve experienced. Knowing specifics about the seizures may help your provider diagnose the correct type.

Your provider will use imaging tests to take pictures of your brain to look for the incorrectly formed or disorganized cells in your cerebral cortex. They might use:

• MRI
• Electroencephalogram (EEG)
• Magnetoencephalography (MEG)
• PET scan
• SPECT scan

What are cortical dysplasia treatments?

Your provider will suggest treatments to manage any symptoms you experience and reduce how often you have seizures.

They’ll likely suggest anti-seizure medications. Cortical dysplasia is a common cause of drug-resistant epilepsy. This can be harder to manage with medications than usual. Medications may become less effective over time, even if they work at first.

Following a ketogenic diet (keto diet) might help you reduce how often you have seizures. Eating high-fat, low-carb foods can change how your brain gets energy to function. You may work with a dietitian to help you transition to this new eating plan.

You may need epilepsy surgery if other treatments don’t manage the seizures well enough. Your surgeon will tell you which kind of surgery you’ll need and what to expect.

Can you remove cortical dysplasia?

Your surgeon may be able to remove it, depending on a few factors:

• Which type you have
• Where in your brain the seizures come from
• How severe the dysplasia is

Your surgeon may be able to remove the abnormal cells in your cerebral cortex without affecting your brain function. Removing these cells may reduce how often you have seizures and how much medication you need. But your surgeon may have to remove some healthy brain tissue to take out all the abnormal cells. This might affect your ability to move. It can also worsen your vision and other senses. Your surgeon will explain the benefits and risks to help you decide if surgery is right for you.

They may also disconnect these abnormal cells from the rest of your brain. This will stop the cells from transmitting seizures. Your surgeon may be able to destroy the abnormal cells using a less invasive laser treatment that has a lower risk of complications than traditional brain surgery.

How serious is cortical dysplasia?

Any condition that affects your brain can be serious. And that includes cortical dysplasia. But your provider will help you find ways to manage seizures and symptoms. Eventually, you should be able to reduce how much they impact your day-to-day life.

Is cortical dysplasia curable?

It’s possible that you never experience seizures again, especially after surgery.

But cortical dysplasia isn’t like an infection that’s cured after you take medicine for it. Treating it is less focused on an exact cure, and more about managing the symptoms and seizures.

Cortical dysplasia life expectancy

Cortical dysplasia usually doesn’t cause fatal complications or affect how long you can expect to live. But severe seizures (especially tonic-clonic seizures) can increase your risk of dying earlier. Talk to your provider if you’re worried about its impact on your long-term health. They’ll help you feel safe and healthy.

When should I see my healthcare provider?

Your healthcare provider will tell you how often you’ll need follow-up visits and imaging tests. You may need appointments more often at first, especially after starting treatment or right before and after surgery.

Talk to your provider if you’re having seizures more often or if they’re more severe. This can be a sign your provider needs to adjust your treatments or that you might be developing epilepsy that’s resistant to medications.

When should I go to the emergency room?

Call 911 (or your local emergency services number) if you’ve had a seizure that lasts longer than five minutes or have a series of seizures in a row.

Which questions should I ask my healthcare provider?

• Which type do I have?
• Will anti-seizure medications work for me?
• When should I consider surgery?
• Which type of surgery will be best for me?