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What Is Chiari Malformation?
Chiari malformation is a condition that occurs when part of your child’s brain, called the cerebellum, pushes down into the spinal canal through a natural opening called the foramen magnum or another abnormal opening. It is caused by a structural abnormality in your child’s skull.
What is the cerebellum?
The cerebellum is located in the lower back part of the brain. It controls movement, posture, balance, speech, and coordination.
Is chiari malformation serious?
Chiari malformation is considered serious when it causes severe or life-threatening symptoms. However, many cases of chiari malformation do not cause symptoms and do not require treatment.
What are the types of chiari malformation?
When abnormalities that cause chiari malformation occur during fetal development, it is known as congenital or primary chiari malformation. When chiari malformation develops later in life due to another problem, such as injury, disease, infection, or a buildup of spinal fluid, it is known as acquired or secondary chiari malformation.
There are five types of chiari malformations, including:
- Type 0 (very rare) — Occurs when there is crowding at the base of your child’s skull, but no parts of your child’s cerebellum extend into their spinal canal.
- Type I (most common)— Occurs when the bottom of your child’s cerebellum extends into their spinal canal.
- Type II — Occurs when there are abnormalities in brain stem and cerebellum growth during fetal development. It often occurs along with a type of spina bifida called myelomeningocele.
- Type III (most severe) — A life-threatening condition that occurs when your child’s brain stem, cerebellum, and the membranes that surround the spinal cord push down through an abnormal opening in the back of your child’s skull, causing a swelling known as an encephalocele.
- Type IV (rare) — Occurs when your child’s cerebellum develops abnormally and causes life-threatening symptoms after birth.
How common is chiari malformation?
Chiari malformation doesn’t always cause symptoms, so it’s difficult to know how many people are affected. However, research shows that about one in every 1,000 people in the U.S. has some form of chiari malformation.
What causes chiari malformation?
Chiari malformation is caused by a structural problem in your child’s skull that develops before birth and causes the area near their cerebellum to be misshapen or smaller than normal.
In most cases, the structural problem results from a genetic mutation passed from a biological parent to a child. Chiari malformation can also occur randomly during fetal development and may occur alongside other conditions, such as spina bifida or connective tissue disorders.
In very rare cases, chiari malformation can develop later in life as a result of other health conditions, including:
- Brain tumor or cyst.
- Hematoma, or a buildup of blood inside the skull.
- Hydrocephalus, or a buildup of cerebrospinal fluid in the brain.
- Increased pressure inside the skull.
What are Chiari malformation risk factors and complications?
Chiari malformation risk factors
Your child may be more likely to develop chiari malformation if one of their biological parents or another family member has the condition.
Complications of chiari malformation
Complications of chiari malformation may include:
- Hydrocephalus — A buildup of cerebrospinal fluid (CSF) in your child’s brain that can cause life-threatening pressure inside the skull. Hydrocephalus may lead to an abnormally shaped head and cognitive problems.
- Syringomyelia or hydromyelia — A buildup of CSF in your child’s spine that can damage the spinal cord and cause pain, weakness, muscle spasms, and problems with movement, sensation, and bowel and bladder function.
- Tethered cord syndrome — Occurs in children with myelomeningocele when the spinal cord attaches to the spine. Tethered cord syndrome causes nerve damage that, over time, affects bowel and bladder control and lower body movement.
How can I prevent chiari malformation?
There is nothing you can do to prevent Chiari malformation.
If you or your partner has a personal or family history of Chiari malformation and are considering having a child, your doctor may recommend genetic testing to give you more information about your risk of passing the condition to your child.
Taking folic acid supplements during pregnancy may reduce your child’s risk of developing spina bifida, which sometimes occurs alongside chiari malformation.
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What Are the Signs and Symptoms of Chiari Malformation?
Chiari malformation doesn’t always cause symptoms. Sometimes, doctors diagnose the condition during imaging tests performed for other reasons, such as to evaluate a head injury or migraines. It can also be diagnosed before birth during a prenatal ultrasound.
When symptoms occur, they can range from mild to severe and may include:
- Balance or coordination problems.
- Dizziness or vertigo.
- Fainting.
- Headaches near the base of your child’s skull that develop after exercise, straining, sneezing, or coughing.
- Loss of bowel or bladder control.
- Muscle weakness.
- Numbness or a burning sensation in your child’s limbs.
- Problems with vision, hearing, or swallowing.
- Scoliosis, or a curved spine.
- Sleep apnea, or interrupted breathing during sleep.
At what age do chiari malformation symptoms start?
Children born with chiari malformation may not show symptoms at first but might develop them over time. Symptoms can also fluctuate or worsen during specific activities.
When should I see a doctor about my child’s chiari malformation symptoms?
If your child has symptoms of chiari malformation, you should schedule an appointment with your child’s doctor as soon as possible. If your child's symptoms are sudden and severe, dial 911 or go to the nearest hospital Emergency Department.
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How Do You Diagnose Chiari Malformation?
To diagnose chiari malformation, your child’s doctor will perform a physical and neurological exam and check for signs of memory loss, learning difficulties, and developmental delays. Your child’s doctor will also order imaging tests.
What to expect during your visit
During your child’s visit, your doctor will:
- Assess your child’s ability to think, remember, and learn.
- Look for signs of developmental delays.
- Order imaging tests.
- Perform physical and neurological exams.
Tests to diagnose chiari malformation
Tests to diagnose chiari malformation include:
- Cine MRI — An MRI that allows your doctor to see how cerebrospinal fluid flows within your child’s skull.
- CT scan — Creates images of your child’s brain and other structures to check for damaged or abnormal areas.
- Neuropsychological testing — Assesses your child’s ability to think, reason, and remember.
- Magnetic resonance imaging (MRI) — Creates images of your child’s brain to look for damaged or abnormal areas.
- X-ray — Checks for problems in the bones of your child’s skull and spine.
Chiari malformation prognosis
There is no cure for chiari malformation, but there are treatments that can lower your child’s risk of complications, reduce symptoms, and improve quality of life. Your child’s prognosis depends on their condition, symptoms, and other factors.
What is the life expectancy of someone with dhiari malformation?
If your child’s case of chiari malformation does not cause serious symptoms, it should not affect his or her life expectancy. However, severe chiari malformation symptoms can be life-threatening.
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How Do You Treat Chiari Malformation?
If your child’s chiari malformation isn’t causing any symptoms, no treatment is necessary. Your doctor will monitor your child’s condition with routine imaging scans.
When chiari malformation treatment is needed, the goals are to lower your child’s risk of complications, reduce symptoms, and improve quality of life.
Treatment options may include:
Nonsurgical symptom management
Your doctor may recommend nonsurgical treatments to manage your child’s symptoms, including;
- Assistive devices, such as hearing aids or glasses.
- Massage or physical therapy.
- Pain medications.
- Reducing strenuous physical activity.
Surgery for Chiari malformation
Although there is no cure for chiari malformation, there are several surgical procedures that may relieve symptoms and lower your child’s risk of complications.
Surgical treatment options include:
- Craniectomy — Involves removing a piece of your child’s skull to create additional space, reduce pressure on the brain, and improve the flow of cerebrospinal fluid.
- Duraplasty — Involves opening and patching the outer covering of your child’s brain, called the dura, which reduces pressure on the brain by creating additional space.
- Electrocautery — Uses electrical current to shrink a part of the brain called the cerebellar tonsils, reducing pressure on your child’s brain and improving the flow of cerebral spinal fluid.
- Laminectomy — Involves removing a piece of bone in your child’s spine to reduce pressure and restore the flow of cerebrospinal fluid.
- Posterior fossa decompression — The most commonly performed procedure for chiari malformation, this procedure involves removing a part of your child’s skull called the posterior fossa.
- Shunt placement — Involves placing a tube in your child’s skull to drain excess cerebrospinal fluid.
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Why Choose UPMC for Chiari Malformation?
When you choose UPMC Children's for chiari malformation care, your child will receive:
- Access to world-class neurosurgery expertise — Our world-renowned experts treat the full spectrum of pediatric neurosurgical conditions using the latest diagnostic and treatment techniques.
- A full range of treatment options — We offer minimally invasive and traditional open surgical procedures, allowing us to effectively treat all types of disorders while reducing your child’s risk of complications.
- Multidisciplinary care — We partner with neurologists, rehabilitation specialists, and other medical experts to provide complete care that optimizes your child’s recovery and quality of life.
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