A Chiari malformation is a congenital (present at birth) defect in the area of the back of the head where the brain and spinal cord connect.

The condition is also called Arnold Chiari malformation. There are four types of Chiari malformations, including the following:

• Type I – this is the most common type of Chiari malformation. Commonly goes unnoticed until problems arise in the adolescent or adult years of life. In this condition, the base of the skull and the upper spinal area are not formed properly.

• Type II – In this condition, part of the back of the brain shifts downward through the bottom of the skull area. Type II Chiari malformations are 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 is a condition in which there is an overproduction or lack of absorption of the cerebral spinal fluid (CSF) that is found inside of 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.

Causes

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

Chiari malformation may be caused by exposure to harmful substances during fetal development or associated with genetic problems or syndromes that may have a tendency to run in families.

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
• infection
• prescription or illegal drug and alcohol consumption

Symptoms

The following are the most common symptoms of a Chiari malformation. However, each child may experience symptoms differently. In infants and older children born with this condition, symptoms may include:

• headaches
• stiffness or pain in the neck or back of the head area
• poor feeding and swallowing
• decreased strength in the arms
• decreased sensation in the arms and legs
• rapid, back and forth, eye movement
• developmental delays
• weak cry
• breathing problems

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

Diagnosis

If a Chiari malformation occurs with other congenital (present at birth) defects, 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.

The physician obtains a complete prenatal and birth history of the child and may also ask if there is a family history of any medical problems.

The physician will also 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.

During the examination, a measurement of the circumference of the child’s head is taken and compared to a scale that can identify normal and abnormal ranges.

Diagnostic tests that may be performed to confirm the diagnosis of a Chiari malformation include Magnetic Resonance Imaging (MRI)

Treatment

There are many ways to treat Chiari malformations, but all require surgery. The basic operation is one of uncrowding the area at the base of the cerebellum where it is pushing against the brainstem and spinal cord. This is done by removing a small portion of bone at the base of the skull deep to the neck muscles as well as often removing a part of the back of the first and occasionally additional spinal column segments. The operation is often modified if there is a syrinx present or if the child has hydrocephalus. Most children who have the surgery do quite well and have improvement of their symptoms.

Specific treatment for a Chiari malformation will be determined based on:
• child’s age, overall health, and medical history
• the extent and type of the condition
• child’s tolerance for specific medications, procedures, or therapies
• expectations for the course of the condition

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 surgery to relieve increased pressure inside the head or neck area, or to help drain excess cerebral spinal fluid from the brain. Very severe Chiari malformations may be life threatening.

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

• breathing problems
• degree of alertness
• speech or feeding problems
• problems walking
• uncoordinated movement

Back to Fields of Interests