The Chiari malformation is an abnormality in the lower part of the brain called the cerebellum.
There are several different forms. The most common type is the Chiari I malformation (CM)
which this article addresses. Less commonly, it may be known as Arnold-Chiari
malformation,
tonsillar herniation or tonsillar ectopia. Most cases of Chiari are congenital, meaning they are
present from birth.
There are several different forms. The most common type is the Chiari I malformation (CM)
which this article addresses. Less commonly, it may be known as Arnold-Chiari
malformation,
tonsillar herniation or tonsillar ectopia. Most cases of Chiari are congenital, meaning they are
present from birth.
In normal anatomy, the cerebellar tonsils are located just above this line called the
foramen magnum. But in an individual with Chiari, the tonsils hang below the line (herniate)
into the spinal canal. The degree to which the tonsils extend can vary tremendously.
foramen magnum. But in an individual with Chiari, the tonsils hang below the line (herniate)
into the spinal canal. The degree to which the tonsils extend can vary tremendously.
Symptoms
The most common symptom of Chiari malformation is a headache, which begins at the
back of the head (neck) and radiates upward. The pain is often made worse or can be
brought on by coughing, sneezing or straining. These activities are known as valsalva
maneuvers.
back of the head (neck) and radiates upward. The pain is often made worse or can be
brought on by coughing, sneezing or straining. These activities are known as valsalva
maneuvers.
Visual problems such as nystagmus (involuntary eye movements), double or blurred vision
may occur. Balance difficulties, vertigo and dizziness also may be present. Some people
may have cranial nerve compression. This can result in apnea (cessation of breathing),
gagging, swallowing difficulties, facial numbness or syncope (temporary loss of
consciousness).
may occur. Balance difficulties, vertigo and dizziness also may be present. Some people
may have cranial nerve compression. This can result in apnea (cessation of breathing),
gagging, swallowing difficulties, facial numbness or syncope (temporary loss of
consciousness).
Patients may have muscle weakness, particularly in the upper extremities, coordination
problems, and gait abnormalities. Imaging of the spine may reveal a fluid collection
inside of the spinal cord, known as a syrinx. Some individuals may have hydrocephalus,
a buildup of fluid in the ventricles of the brain.
problems, and gait abnormalities. Imaging of the spine may reveal a fluid collection
inside of the spinal cord, known as a syrinx. Some individuals may have hydrocephalus,
a buildup of fluid in the ventricles of the brain.
Treatment
The first step after diagnosis is to consult with a neurosurgeon who has experience
treating and managing this disorder. Be aware that you may need to travel and you
may wish to consult with more than one specialist.
treating and managing this disorder. Be aware that you may need to travel and you
may wish to consult with more than one specialist.
If symptoms are mild and not progressing, your doctor may recommend conservative
management. Supportive care such as headache and pain management, physical
therapy or a reduction in activities can help manage symptoms.
management. Supportive care such as headache and pain management, physical
therapy or a reduction in activities can help manage symptoms.
An operation may be recommended. This is referred to as a posterior fossa decompression.
The surgeon makes more room in the back of the head by removing small pieces of the skull
bones. This reduces compression of the brain stem and allows the tonsils to move
back into their natural position. The specific surgical techniques will vary among
surgeons; no consensus yet exists on the best variation on this surgical procedure.
The surgeon makes more room in the back of the head by removing small pieces of the skull
bones. This reduces compression of the brain stem and allows the tonsils to move
back into their natural position. The specific surgical techniques will vary among
surgeons; no consensus yet exists on the best variation on this surgical procedure.
Is This Condition Hereditary?
Researchers investigated the genetic implications of the Chiari malformation with or
without syringomyelia. A genetic prevalence has been identified in some families.
Researchers continue to search for the gene(s) that are responsible for producing the
Chiari malformation.
without syringomyelia. A genetic prevalence has been identified in some families.
Researchers continue to search for the gene(s) that are responsible for producing the
Chiari malformation.
MRI scanning is recommended for family members who have signs or symptoms of the
disorder.
disorder.
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