Chiari malformation in children

A Chiari malformation is a congenital (present at birth) abnormality in the area of the back of the head where the brain and spinal cord connect. The condition is also called Arnold Chiari malformation.

If your child has been diagnosed with a Chiari malformation and you would like him or her to be evaluated by the pediatric Chiari team at the Rocky Mountain Neuroscience Center, contact us at (877) 752-2737.

Types of Chiari malformations

Type I: In this condition, the base of the skull and upper spinal area are not formed properly.

Type II: This condition is typically seen in infants who are born with spina bifida, a neurological condition that causes a portion of the spinal cord and the surrounding structures to develop outside, instead of inside, the body. Type II Chiari malformations can also be associated with a condition known as hydrocephalus. Hydrocephalus in children is a condition in which there is an overproduction or lack of absorption of the cerebral spinal fluid (CSF) that is found inside the ventricles (fluid-filled areas) inside of the brain. The increased fluid causes the pressure inside of the head to increase and the skull bones to expand to a larger than normal appearance.

Type III: The back of the brain protrudes out of an opening in the back of the skull area.

Type IV: The back of the brain fails to develop normally.

Chiari malformation causes

Although the exact cause of Chiari malformation is unknown, it is thought that a problem during fetal development may cause the abnormal brain function.

Theories suggest that the following may predispose the fetus to problems that affect the normal development of the head during pregnancy:

  • Exposure to hazardous chemicals/substances
  • Lack of proper vitamins and nutrients in the diet
  • Prescription or illegal drug use and alcohol consumption
  • Infection

Chiari malformation symptoms

The following are the most common Chiari malformation symptoms. However, each child may experience different ones. In infants and older children born with Chiari malformation, symptoms may include:

  • Rapid back and forth eye movement
  • Developmental delays
  • Poor feeding and swallowing
  • Vomiting
  • Stiffness or pain in the back of the head area
  • Weak cry
  • Breathing problems, sleep apnea or snoring
  • Headaches
  • Decreased strength in the arms or hands

Chiari malformation symptoms may resemble other conditions or medical problems. Always consult your child’s physician for a diagnosis.

Chiari diagnosis and treatment

If a Chiari malformation occurs with other congenital abnormalities, the diagnosis may be made at birth. Other times, the diagnosis is made after the onset of specific signs and symptoms and after diagnostic testing.

Your child’s doctor will obtain a complete prenatal and birth history of your child and may ask if there is a family history of any medical problems. Your child’s doctor also will ask about developmental milestones, such as the age the child sat up, crawled or walked, since a Chiari malformation can be associated with other neuromuscular disorders. Developmental delays may require further medical follow-up for underlying problems.

Other abnormalities can be associated with malformation. These include:

  • Hydrocephalus—A buildup of fluid inside the brain.
  • Syringomyelia—A buildup of fluid inside the spinal cord.
  • Tethered cord—Thickening of a small band at the base of the spinal cord that can lead to bowel or bladder problems or leg weakness, if not addressed.

Diagnosing a Chiari malformation

Diagnostic tests are necessary to confirm the diagnosis of a Chiari malformation and evaluate for other associated problems:

  • Magnetic resonance imaging (MRI)—A diagnostic procedure that uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body.
  • Sleep study—A diagnostic study to evaluate how your child sleeps and breathes while sleeping, which can help identify subtle symptoms of a Chiari malformation.
  • Spinal X-rays—A diagnostic test to look at the development of the bones of the spine and evaluate for abnormal curvature of the spine (scoliosis).

Chiari malformation treatment

Specific Chiari malformation treatment will be determined by your child’s physician based on:

  • Your child’s age, overall health and medical history
  • The extent of the condition
  • The type of condition
  • Your child’s tolerance for specific medications, procedures or therapies
  • Expectations for the course of the condition
  • Your opinion or preference

Medical management consists of frequent physical examinations and diagnostic testing to monitor the growth and development of the brain, spinal cord, skull and backbones.

Some types of Chiari malformations may require Chiari surgery to relieve increased pressure inside the head or neck area or to help drain excess cerebrospinal fluid from the brain. Very severe Chiari malformations may be life-threatening.

Parents are instructed to watch for any change that may affect the child’s neurological status, including:

  • Breathing problems
  • Degree of alertness
  • Speech or feeding problems
  • Problems walking
  • Uncoordinated movement

Lifelong considerations for a child with a Chiari malformation

The full extent of the problems associated with a Chiari malformation are usually not completely understood immediately at birth, but may be revealed as the child grows and develops. Children born with a Chiari malformation require frequent examinations and diagnostic testing by your child’s doctor to monitor the development of the head as the child grows. The medical team works hard with your family to provide education and guidance to improve the health and well-being of the child.

Genetic counseling may be recommended by your child’s doctor to provide information on the recurrences for Chiari malformation and any available testing.

Our multispecialty Chiari malformation team

When a child is diagnosed with Chiari malformation, it is very important to have a thorough evaluation before developing a treatment plan. As a result, we have developed a comprehensive team using pediatric subspecialists in neurosurgery, neurology and orthopedics to work with each child individually.

Our team includes:

Our goal is to provide a coordinated team approach to care for patients with Chiari malformations.