Dr. Dan Heffez, neurosurgeon and medical director of the Columbia St. Mary’s Wisconsin Chiari Center, explains the often misdiagnosed and misunderstood brain abnormality known as Chiari malformation. Dr. Heffez is a published and renowned expert on the topic, and was recently named a 2015 Top Doctor by Castle Connolly Medical as featured in Milwaukee Magazine.

Normally Chiari is thought of as a congenital abnormality; however, within 1 week I met 3 people with a MSIDS diagnosis who also have Chiari.  Coincidence?

What causes these malformations?

CM has several different causes. It can be caused by structural defects in the brain and spinal cord that occur during fetal development, whether caused by genetic mutations or lack of proper vitamins or nutrients in the maternal diet. This is called primary or congenital CM. It can also be caused later in life if spinal fluid is drained excessively from the lumbar or thoracic areas of the spine either due to injury, exposure to harmful substances, or infection. This is called acquired or secondary CM. Primary CM is much more common than secondary CM.

You read that correctly.  INFECTIONS can cause a structural defect called Chiari.

There is not much “science” on the connection between Chiari and MSIDS, only blogs full of people who have both.  In theory this makes complete sense as MSIDS patients can have encephalitis and meningitis due to an infection in the brain caused by tick born infections, both bacterial and viral.  They also may suffer with anoxia, an absence of oxygen which causes seizures and neck stiffness.  Borrelia, the causative agent in Lyme Disease is known for causing severe headaches, a stiff and painful neck, and trouble turning the head and/or spine.

Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. Normally the cerebellum and parts of the brain stem sit in an indented space at the lower rear of the skull, above the foramen magnum (a funnel-like opening to the spinal canal). When part of the cerebellum is located below the foramen magnum, it is called a Chiari malformation.
CMs may develop when the bony space is smaller than normal, causing the cerebellum and brain stem to be pushed downward into the foramen magnum and into the upper spinal canal. The resulting pressure on the cerebellum and brain stem may affect functions controlled by these areas and block the flow of cerebrospinal fluid (CSF)— the clear liquid that surrounds and cushions the brain and spinal cord—to and from the brain.

Are other conditions associated with Chiari malformations?

Hydrocephalus is an excessive buildup of CSF in the brain. A CM can block the normal flow of this fluid, resulting in pressure within the head that can cause mental defects and/or an enlarged or misshapen skull. Severe hydrocephalus, if left untreated, can be fatal. The disorder can occur with any type of CM, but is most commonly associated with Type II.

Spina bifida is the incomplete development of the spinal cord and/or its protective covering. The bones around the spinal cord don’t form properly, leaving part of the cord exposed and resulting in partial or complete paralysis. Individuals with Type II CM usually have a myelomeningocele, a form of spina bifida in which the bones in the back and lower spine don’t form properly and extend out of the back in a sac-like opening.

Syringomyelia, or hydromyelia, is a disorder in which a CSF-filled tubular cyst, or syrinx, forms within the spinal cord’s central canal. The growing syrinx destroys the center of the spinal cord, resulting in pain, weakness, and stiffness in the back, shoulders, arms, or legs. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands. Some individuals also have severe arm and neck pain.

Tethered cord syndrome occurs when the spinal cord attaches itself to the bony spine. This progressive disorder causes abnormal stretching of the spinal cord and can result in permanent damage to the muscles and nerves in the lower body and legs. Children who have a myelomeningocele have an increased risk of developing a tethered cord later in life.

Spinal curvature is common among individuals with syringomyelia or CM Type I. Two types of spinal curvature can occur in conjunction with CMs: scoliosis, a bending of the spine to the left or right; and kyphosis, a forward bending of the spine. Spinal curvature is seen most often in children with CM, whose skeleton has not fully matured.

CMs may also be associated with certain hereditary syndromes that affect neurological and skeletal abnormalities, other disorders that affect bone formation and growth, fusion of segments of the bones in the neck, and extra folds in the brain.

How common are Chiari malformations?

In the past, it was estimated that the condition occurs in about one in every 1,000 births. However, the increased use of diagnostic imaging has shown that CM may be much more common. Complicating this estimation is the fact that some children who are born with the condition may not show symptoms until adolescence or adulthood, if at all.

How is Chiari diagnosed?

Diagnosis is made through a detailed, focused, multidisciplinary neurological examination and confirmed by a diagnostic study (magnetic resonance imaging) of the brain using a specific, unique protocol. Because symptoms mimic so many other conditions, Chiari I Malformation patients often wait years for an accurate diagnosis. Timely diagnosis and treatment lessens the chance of more permanent neurological damage.

The only way to rule out Chiari is by seeing a doctor/chiropractor who will order an MRI to rule it out.  Dr. Heffez of the Chiari Center recommends the traditional tunnel-type MRI.  He also recommends a brain MRI with and without contrast as well as a cervical MRI.  Please read this article if you are considering an MRI as Dr. Oro explains the following:

“The Chiari malformation may be reported as “incidental” by some radiologists. Unfortunately, even if an MRI shows the presence of a Chiari I malformation, it may still not be recognized as an important finding if the radiologist preparing the scan report uses the word incidental. Incidental means that something has been found, but is of no importance. Since saying that something is of no importance is a clinical decision, the decision should not be made by the radiologist since they have not taken a clinical history or performed a careful neurological examination on the patient.
When the physician who ordered the test reads words such as “normal scan, incidental Chiari malformation”, they can get thrown off the track and believe nothing of importance was found on the scan.”

Chiari, similarly to MSIDS, needs a specialist and the diagnosis is a clinical one that unless the neurologist has experience with it may not be the best judge of the test’s implications.  Copy this article and take it with you to your MRI and ask that it be given to the neurologist reading the MRI.  Better yet, call the surgeon you would go to and ask if they would look at a copy of the MRI as well and make sure it is sent to them.  No one cares about your health as much as you do.  You have to be your own advocate.

Before you decide to get an expensive MRI, you may want to try systemic enzymes first to rule out inflammation as the cause of your neck pain: