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What is Chiari's malformation?

Asked by Claudia Sanchez, Wichita Falls, Texas

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My 7-year-old daughter has been diagnosed with Chiari's malformation. I have tried to do some research on it. I'm having problems not only understanding it but also finding information that relates to children. Where can I get more information in relation to children and possibly seek second opinion in my area? Thanks.

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Conditions Expert Dr. Otis Brawley Chief Medical Officer,
American Cancer Society

Expert answer

Chiari malformation is a developmental defect in which the lower part of the brain, called the cerebellum, is squeezed into the space of the upper part of the spinal cord. Chiari malformation occurs when the section of the skull containing the cerebellum is too small or is deformed, thus putting pressure on and crowding the brain. There are four general types. The most common are designated as Chiari malformation type I and type II.

Chiari malformation type I is generally diagnosed because of symptoms in late childhood or even in adulthood. It is sometimes asymptomatic and an incidental finding, discovered by a CT scan done for other reasons. Those who have no symptoms often need no treatment.

Symptoms can be vague and are often confused with symptoms of other diseases such as migraine headache, transient ischemic attack and even sinusitis. They may include headache, sometimes caused by a sudden cough or a sneeze. The malformation can also cause neck pain, unsteady walking, poor hand coordination, numbness and tingling in the hands and feet, dizziness, slurred speech and blurred vision. In some people, Chiari malformation can become a slow progressive disorder and lead to serious complications such as coma, paralysis and death.

Chiari malformation type II is usually diagnosed in early childhood. Chiari type II is a problem of the lower brain and a malformation at the top of the spine and base of the skull. It is accompanied by a type of spina bifida, known as myelomeningocele. In myelomeningocele, the backbone and the spinal canal have not closed properly before birth. Often the diagnosis of spina bifida will lead to a diagnostic workup that finds the Chiari malformation type II before the development of the symptoms described above.

Chiari malformation type III and IV are extremely severe types of the condition and are rarely survivable. In Chiari malformation type III, a portion of the brain extends through an abnormal opening in the back of the skull. In Chiari type IV, the brain itself has not developed normally. Both type III and type IV are obvious at birth and often diagnosed by ultrasound before birth.

These malformations should be evaluated by a neurologist or neurosurgeon with experience in dealing with them. Specialists in this condition are generally found at larger medical centers and especially university hospitals. They can often work with local doctors who might do the routine management of the condition to minimize travel to the larger center. Treatments often involve an initial surgery to correct the defect, but rehabilitation therapy and long-term medical treatment is often needed.

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