Chiari Malformation

What Causes Chiari Malformation?

Chiari malformation happens when the skull does not protect part of the cerebellum and/or brain stem as it usually is. The disorder occurs when the part of the skull that usually houses the cerebellum is deformed, resulting in increased pressure that forces part of the brain through the opening in the base of the skull and into the spinal canal. When the deformation is minor, the central nervous system (CNS) may continue to function normally, and no symptoms result.

A potential complication of Chiari malformation is disruption of cerebrospinal fluid circulation through the CNS. This fluid protects and nourishes the brain and spinal cord, and if its circulation is impaired, symptoms can result. Excess fluid may build up in and around the brain, causing excessive pressure damage and nerve-cell function disruption.

In some cases, damage to (or pressure on) the cerebellum or brain stem can cause other symptoms.

Chiari malformation type II is very often associated with spina bifida. In this disorder, the spinal cord and bones of the spine fail to develop properly before birth, and some central nervous system tissue protrudes through an abnormal opening in the spinal column. This condition is called myelomeningocele.

Is Chiari Malformation Hereditary?

Studies suggest that Chiari malformation and associated central nervous system disorders such as spina bifida and hydrocephalus have an inherited component. These disorders seem to run in some families, and an individual is at increased risk if a close relative has also had one of the disorders.

Research into a possible genetic cause of Chiari malformation is ongoing. Preliminary research has identified a genetic variation associated with Chiari malformation and other related disorders, but more research is needed to confirm the connection.

How Is Chiari Malformation Detected?

Because Chiari malformation is often associated with spina bifida and hydrocephalus, babies with these disorders are typically examined for Chiari malformation. In some cases, the malformation may be visible on ultrasound scans before birth.

Early detection of mild cases of Chiari malformation may be more difficult. If you experience any of the symptoms associated with the disorder, you should consult a medical professional.

How Is Chiari Malformation Diagnosed?

If a patient exhibits symptoms consistent with Chiari malformation, a doctor will conduct a physical exam to rule out other potential causes of the symptoms. The doctor may also order laboratory tests to look for evidence of other underlying conditions. A neurological exam will test critical areas of neurological function, including balance, coordination, cognition, muscle strength, and sensory perception.

If, after conducting initial exams and tests, the doctor suspects that Chiari malformation might be the cause of the symptoms, they may order one or more imaging tests that can confirm the presence of the malformation. These imaging tests may include:

• X-rays
• Magnetic resonance imaging (MRI)
• Computerized tomography (CT) scans

PLEASE CONSULT A PHYSICIAN FOR MORE INFORMATION.

How Is Chiari Malformation Treated?

Cases of Chiari malformation with no symptoms may not require any treatment at all. Doctors will often recommend that patients undergo regular imaging exams to watch for any changes in the malformation condition. Medications may be used to treat symptoms such as headaches or neck pain.

Surgical Treatment

If symptoms are present or damage to central nervous system tissue is possible, surgical interventions may be required. Several different types of surgical procedures are possible depending on the particular characteristics of each case. Commonly used techniques include:

• Posterior fossa decompression. This surgery involves moving a small area of bone at the base of the skull to give the cerebellum more room. This procedure often relieves pressure and helps with cerebrospinal fluid circulation.
• Dura mater incision and patch. These procedures involve cutting through the protective tissue that covers the brain and spinal cord. An incision in the dura can help relieve pressure, and the addition of a flexible patch can allow more room for the cerebellum, brain stem, and/or spinal cord. The patch may be made from tissue from another part of the body or artificial material.
• Electrocautery. This procedure involves the removal of the lower part of the cerebellum (called the cerebellar tonsils). This part of the cerebellum has no known function, and its removal does not cause loss of neurological function. Removal of the cerebellar tonsils gives the rest of the cerebellum more room.

Other surgical procedures may be required if the patient is also suffering from other disorders, such as spina bifida or hydrocephalus.

How Does Chiari Malformation Progress?

Chiari malformation is not always a progressive disorder that gets worse over time, but some cases may eventually lead to symptoms and complications that require treatment. In cases where symptoms are not present at birth or during childhood, symptoms and complications may develop later in life.

Potential complications of Chiari malformation include:

• Hydrocephalus. This is the buildup of cerebrospinal fluid around the brain. The condition can be life-threatening.
• Syringomyelia. This disorder involves the development of a fluid-filled cyst in the spinal column. The condition can cause severe neurological symptoms.
• Tethered cord syndrome. In this disorder, the spinal cord becomes fused with the tissues surrounding it. Severe nerve damage can result.
• Spinal curvature. Chiari malformation, particularly Type I, may cause the spine to develop abnormally. Spinal curvature may also be associated with syringomyelia.

How Is Chiari Malformation Prevented?

There is no known way to prevent Chiari malformation. However, research has identified some risk factors linked to spina bifida and other neural tube birth defects associated with Chiari malformation. Women who are pregnant or who could become pregnant can reduce their risk of having a baby with a neural tube defect by addressing these factors.

• Ensure an adequate intake of folic acid. The recommended daily dose of folic acid is 400 micrograms (mcg). Women who have had a previous pregnancy with a neural tube defect may be encouraged to take a higher dose. Consult a doctor for guidance.
• Manage diabetes according to your doctor’s instructions, and have blood-sugar levels under control before you become pregnant.
• Take steps to control obesity.
• Avoid hot tubs, saunas, and high-temperature environments during pregnancy. Treat high fevers promptly with the over-the-counter fever reducer acetaminophen.
• Tell your doctor about any medications or dietary supplements you’re taking.

Chiari Malformation Caregiver Tips

If your child or loved one suffers from chiari malformation, keep these caregiving tips in mind:

• Learn and educate. Find out all you can about chiari malformation so that you can be an effective advocate for your child. The more you know, the better you’ll be able to make informed decisions about treatment. You’ll also be able to educate teachers and others who will be responsible for supporting your child in the future.
• Remember the positives. The disorder may be limiting in some ways, but your child will still be capable of living a full, happy life. Concentrate on the possibilities rather than the limitations.
• Get help when you need it. Find a support group of people who share your experience with chiari malformation. The support of others who know what you’re going through can be invaluable.

Many people with chiari malformation also suffer from other brain and mental health-related issues, a condition called co-morbidity. Here are a few of the disorders commonly associated with chiari malformation:

• Chiari malformation is sometimes associated with other central nervous system structural malformations, including spina bifida.
• Problems related to cerebrospinal fluid (CSF), such as hydrocephalus and pseudo tumor cerebri, are sometimes co-morbid with chiari malformation.
• Some studies have suggested that children with chiari malformation are at increased risk for anxiety, depression, ADHD, autism, and bipolar disorder.

Chiari Malformation Brain Science

Scientists are researching to help them better understand what causes Chiari malformation and other neural tube defects. They hope that a better understanding of the origins of the disorders could lead to preventive interventions or more effective treatments. Current areas of research include:

• Genetics. Scientists have focused their attention on a particular chemical pathway important in regulating the body’s cell growth. Certain abnormal gene variations (mutations) that affect this pathway have been linked to cell overgrowth. These mutations may play a role in the development of some cancers, and they may also be connected to brain cell overgrowth that leads to conditions such as Chiari malformation. Research in this area is preliminary.
• Animal studies. Scientists are studying fish embryos to better understand the development of a nervous system called the midbrain-hindbrain boundary (MHB). In humans, activity in this area is instrumental in the development of the cerebellum. Understanding how the MHB develops in animals is a first step toward understanding this crucial process in humans.

Chiari Malformation Research

Title: Laparotomy Versus Percutaneous Endoscopic Correction of Myelomeningocele

Stage: Recruiting

Principal investigator: Ruben Quintero, MD 

Wellington Regional Medical Center

Wellington, FL

The purpose of this study is to evaluate the feasibility of a fetoscopic surgical technique for antenatal correction of fetal myelomeningocele. Two surgical approaches will be utilized. The percutaneous approach will be offered to participants with a posterior placenta. The laparotomy/uterine exteriorization approach will be offered to participants regardless of placental location.

Title: Fetoscopic Repair of Isolated Fetal Spina Bifida

Stage: Recruiting

Principal investigator: Jena Miller, MD 

Johns Hopkins University

Baltimore, MD

The purpose of this investigation is to evaluate maternal and fetal outcomes following fetoscopic repair of fetal spina bifida at the Johns Hopkins Hospital.

This study hypothesizes that fetoscopic spina bifida repair is feasible and has the same effectiveness as open repair of fetal spina bifida, but with the benefit of significantly lower maternal and fetal complication rates. The fetal benefit of the procedure will be the prenatal repair of spina bifida. The maternal benefit of fetoscopic spina bifida repair will be the avoidance of a large uterine incision. This type of incision increases the risk of uterine rupture and requires that all future deliveries are by cesarean section. The minimally invasive fetoscopic surgical technique may also lower the risk of preterm premature rupture of membranes and preterm birth compared to open fetal surgery. Finally, successful fetoscopic spina bifida repair also makes vaginal delivery possible.