Chiari Malformation

What is a Chiari malformation?

A Chiari malformation (CM) is a growth abnormality in the skull. The abnormality occurs when part of your brain moves into your spinal canal. The abnormality will cause your brain to press against the base of the skull. The pressure blocks the flow of cerebrospinal fluid, which should circulate nutrients and chemicals while removing waste products.

How common is a Chiari malformation?

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About 1 in every 1,000 people in the United States may experience a Chiari malformation. The exact number and how common the condition is remain unclear. Some individuals don’t exhibit any symptoms. Others only show symptoms well into adolescence or adulthood.

What are the types of Chiari malformation?

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There are five types of Chiari malformation:

  • Chiari malformation type 0: Type 0 is extremely rare. There are little to no parts of the cerebellum in the hole at the base of the skull, but people do experience crowding.
  • Chiari malformation type I: Type I is the most common form, but it may not present with any symptoms. It occurs when the lower part of the cerebellum extends into the hole located at the base of the skull where the spinal cord typically passes through.
  • Chiari malformation type II: Type II happens during brain and spine development in the uterus. It typically occurs with a severe form of spina bifida known as myelomeningocele. Surgery can close the spine after the baby is born, but paralysis is possible.
  • Chiari malformation type III: Type III is rare and the most severe of any of the types. The malformation leads to swelling at the back of the skull and causes life-threatening symptoms starting as early as childhood. Children experience: neurological problems, learning delays, and seizures. Surgery is common to address some of the cerebellum and brain stem extending through an unusual opening at the back of a person’s skull.
  • Chiari malformation type IV: Type IV is rare, but it is severe and often life-threatening in infants. The type occurs when a cerebellum is underdeveloped or has missing parts.

Speaking with your healthcare provider is an effective way of connecting with a specialist who can identify and diagnose any sign of a Chiari malformation.

What does a Chiari malformation feel like?

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If you have Chiari malformation, some of the symptoms may include:

  • Dizziness and vertigo
  • Weak muscles
  • Numbness in the arms or legs
  • Burning sensations in your fingers, toes, or lips
  • Headaches
  • Throbbing, stabbing, or sharp pain in the back of the head, neck, or shoulders after you cough or sneeze
  • Poor balance and coordination
  • Feeling constantly tired (chronic fatigue)
  • Difficulty falling asleep (insomnia)
  • Feeling like your heart skips a beat (palpitations)

What are the symptoms of a Chiari malformation?

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Symptoms differ for each individual, ranging from no symptoms to mild to severe ones. The common symptoms of a Chiari malformation may improve or worsen.

  • Curved spine (scoliosis)
  • Fainting
  • Loss of bladder or bowel control
  • Double vision or blurred vision
  • Abnormal eye movements or light sensitivity
  • Ringing sound (tinnitus)
  • Hearing loss
  • Difficulty swallowing, eating, drinking, or speaking
  • Difficulty breathing while sleeping (sleep apnea)

 

Make sure to keep track of any symptoms as you experience them. Making an appointment with your doctor and having a record of when your symptoms began, and whether they have become more severe, will help you to receive the best possible medical care.

What causes a Chiari malformation?

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A Chiari malformation occurs when your brain pushes through your spinal canal where the brain and spinal cord meet. Most malformations are present at birth (congenital) and are results of the genetic change that you either:

  • Inherited from your biological family
  • Had happen randomly after conception

There are rarer instances when a Chiari malformation develops despite someone not being born with the condition. The skull or spinal cord could change shape from:

  • A cyst
  • A brain tumor
  • Blood accumulation (hematoma)
  • Fluid buildup in the brain (hydrocephalus)
  • Increased pressure in the skull from fluid buildup (intracranial hypertension or pseudotumor cerebri)

 

Experts have also linked Chiari malformation to other health conditions, including:

  • Spina bifida
  • Goldenhar syndrome
  • Achondroplasia
  • Connective tissue conditions (Ehlers-Danlos syndrome)

What are the complications of a Chiari malformation?

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Serious complications are possible if Chiari malformation is left undiagnosed and untreated, but not everyone has severe symptoms or requires treatment. Speaking with your doctor is the best way to minimize the likelihood of experiencing major complications.

  • Hydrocephalus: Too much fluid buildup in the brain can lead to difficulty thinking. Your doctor may recommend placing a flexible tube called a shunt. The procedure helps to divert and drain excess cerebrospinal fluid to a different part of your body.
  • Spina bifida: When part of the spinal cord is exposed, it can lead to a risk of paralysis. Type II individuals typically have a form of spina bifida known as myelomeningocele.
  • Syringomyelia: The formation of a cavity or cyst within the spinal column can press on your nerves and cause pain, weakness, and stiffness.
  • Tethered cord syndrome: The spinal cord attaching to the spine will lead to the spinal cord stretching. If left untreated, it can result in significant nerve and muscle damage in your lower body.

How is a Chiari malformation diagnosed?

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During a complete physical exam, a doctor will test an individual’s:

  • Movement
  • Balance
  • Sensations in the hands and feet
  • Memory (in children)

 

A doctor will also look to identify any learning challenges or developmental delays in children. Confirming a diagnosis will involve ordering imaging tests to review a more detailed picture of the brain and spinal cord. Possible imaging tests are:

  • MRIs (magnetic resonance imaging)
  • Cine MRI, which can show the flow pattern of fluid around the base of the skull
  • CT (computed tomography), which detects problems in bones
  • X-rays, which help identify bone abnormalities in the skull and neck

 

A Chiari malformation may also appear on prenatal ultrasounds. Make sure to keep up with all of your pregnancy’s ultrasound appointments.

How is Chiari malformation treated?

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How your doctor treats you or a loved one with a Chiari malformation depends on a number of factors. The main factor is the severity of the symptoms. Individuals who don’t experience any symptoms will not receive any treatment. Your healthcare provider can monitor your health by running regular MRIs.

Treatment options for mild symptoms (headache or neck pain) include:

  • Limiting physical activities
  • Pain medications
  • Massage therapy or physical therapy
  • Hearing aids or glasses (for hearing or vision loss)

 

Severe cases of a Chiari malformation may require surgical procedures. These are:

  • Craniectomy: Removing a piece of the skull to relieve pressure on the brain and to help the passage of rebrospinal fluid
  • Posterior fossa decompression: The most common procedure, removing part of the back of the skull to relieve pressure on the brain
  • Electrocautery: Applying a small amount of electricity to shrink the cerebellar tonsils and create more room for cerebrospinal fluid to drain
  • Duraplasty: Opening a membrane on the outside of your brain (the dura) and sewing in a patch to make the membrane larger to relieve pressure
  • Laminectomy: Removing part of the bones covering the spinal column to make room for the spinal cord
  • Shunt placement: Implanting a shunt or tube to drain fluid away from the skull

 

Any type of treatment can come with associated side effects. Speak with your doctor before you choose next steps so that you can make a fully-informed decision regarding your healthcare. It’s also important to note that repeat surgeries might be necessary over time and as you age.

Is a Chiari malformation preventable?

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There is currently no known way to prevent the development of any Chiari malformation. Speak with your healthcare provider if you plan on becoming pregnant about the best ways to maintain good health. A provider may recommend:

  • Regularly taking vitamins (to reduce your child’s risk of getting spina bifida)
  • Genetic testing

What is the outlook for someone with a Chiari malformation?

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Monitoring your symptoms and finding the right treatment plan can greatly influence the outlook for someone with any type of Chiari malformation. The severity and type of Chiari malformation can affect your life expectancy, but people with mild symptoms or none should not see a major change to their life expectancy. Speak with your healthcare provider after receiving a diagnosis about what you can anticipate.

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