Syringomyelia

Syringomyelia is a neurological disorder in which a fluid-filled cyst (syrinx) forms within the spinal cord. The syrinx can get big enough to damage the spinal cord and compress and injure the nerve fibers that carry information to and from the brain to the body.

In syringomyelia, the watery liquid known as cerebrospinal fluid (CSF)—which surrounds and protects the brain and spinal cord—builds up within the tissue of the spinal cord, expands the central canal, and then forms a syrinx. Generally, a syrinx develops when the normal flow of CSF around the spinal cord or lower brain stem is disturbed. When syrinxes affect the brain stem, the condition is called syringobulbia.

Symptoms of damage to the spinal cord vary among individuals depending on where the syrinx forms, how large it is, and how long it extends. Symptoms develop slowly over time, worsen over many years, and may occur on one or both sides of the body. Symptoms can include:

• Pain (potentially chronic)
• Progressive weakness in arms and legs
• Stiffness in the back, shoulders, neck, arms, or legs
• Headaches
• Loss of sensitivity to pain or hot and cold, especially in the hands
• Numbness or tingling
• Loss of balance
• Loss of bowel and bladder control
• Problems with sexual function
• Curvature of the spine (scoliosis); may be the only symptom in children

Who is more likely to get syringomyelia?

Syringomyelia may have several possible causes, but most cases are associated with Chiari malformation—an abnormal condition in which brain tissue extends through the hole at the bottom of the skull (foramen magnum) and into the spinal canal, obstructing the flow of CSF. Syringomyelia may also be caused by spinal cord injuries, spinal cord tumors, and damage caused by inflammation in around the spinal cord. In some cases, the cause is unknown (idiopathic).

There are two major forms of syringomyelia:

1. Congenital syringomyelia (also known as communicating syringomyelia) is most often caused by a Chiari malformation and resulting syrinx, usually in the spine's cervical (neck) region. Symptoms typically begin between ages 25 and 40. People with congenital syringomyelia may also have hydrocephalus, a buildup of excess CSF in the brain along with larger than normal connected cavities called ventricles. Straining or coughing can increase the pressure within your head and brain, causing you to develop a headache or even lose consciousness. Some people may have a disorder called arachnoiditis—an inflammation of the arachnoid, one of the three membranes that surrounds the spinal cord.
2. Acquired syringomyelia (also known as primary spinal syringomyelia or noncommunicating syringomyelia) can be caused by:
   • Spinal cord injury
   • Meningitis (an inflammation of brain and spinal cord membranes usually caused by an infection)
   • Arachnoiditis
   • Tethered cord syndrome (a condition present at birth that causes the spinal cord to abnormally attach to the tissues in the lower spine, limiting its movement)
   • Spinal cord tumor

How is syringomyelia diagnosed and treated?

Diagnosing syringomyelia. A physician will review your medical history, perform a physical exam focusing on neurological function, and order imaging of the spine or brain. Sometimes, syringomyelia may be found during diagnostic imaging for another disorder.

Magnetic resonance imaging (MRI) is the most reliable way to diagnose syringomyelia. Using this test, a physician can determine if there is a syrinx in your spine or another abnormality, such as a tumor. In some cases, multiple MRI images may be taken in rapid succession (called dynamic MRI) to show the flow of fluid around the spinal cord and within the syrinx. You might receive an injection of a dye or contrast agent to enhance the MRI images.

Treating syringomyelia. Treatment for syringomyelia depends on the severity and progression of symptoms.

Monitoring—If your syringomyelia that doesn't show symptoms, it is usually not treated but you should be carefully monitored by a neurologist or neurosurgeon as symptoms can worsen over time. A physician may recommend not treating the condition if you are of advanced age or if there is no progression of symptoms. If you have syringomyelia you should avoid activities that involve straining (e.g., lifting heavy objects, jumping) since these actions can trigger symptoms. If you have an associated Chiari malformation you may experience headache with straining.

Surgery—The goal of surgery for syringomyelia is to eliminate the syrinx and prevent further spinal cord injury. Surgery is usually recommended for cases of symptomatic or progressive syringomyelia. There are two general forms of treatment: restoration of normal CSF flow around the spinal cord, and directly draining the syrinx. The type of treatment depends on what is causing your symptoms. The following are some options:

• Treating the Chiari malformation—The main goal of Chiari surgery is to provide more space at the base of your skull and upper neck. This reduces pressure on the brain and spinal cord, restoring the normal flow of CSF. Surgery can allow the syrinx to drain, sometimes becoming smaller or even disappearing entirely. Symptoms may improve even if the syrinx remains the same size or is reduced only slightly. You should get treated sooner rather than later because delaying treatment can cause irreversible spinal cord damage. Syringomyelia can reoccur after surgery, making additional operations necessary.
• Preventing a syrinx from forming or expanding after an injury—The primary strategy is to prevent a trauma-related syrinx from developing or growing in the first place. A somewhat controversial procedure (expansive duraplasty) involves removing scar tissue around the spinal cord and sometimes adding a patch to expand the dura (membrane surrounding the spinal cord). By clearing and expanding the space around the spinal cord, the normal flow of CSF may be restored.
• Removing the obstruction—Surgically removing obstructions such as scar tissue, bone from the spinal canal, or tumors can help restore the normal flow of CSF. If a tumor is causing your syringomyelia, removing it almost always eliminates the syrinx. Occasionally, radiation may be used to shrink the tumor.
• Draining the syrinx—If there is no associated Chiari malformation or tumor, it may be necessary to drain the syrinx. This is usually done in cases where the syrinx is growing, or the cause of the CSF obstruction cannot be identified. A surgeon will insert a drain called a stent or shunt to allow the fluid to flow to another part of your body where it can be absorbed. Draining the syrinx can halt the progression of symptoms and relieve headache.

What are the latest updates on syringomyelia?

The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH), is the primary funder of research on the brain and spinal cord.

Genetics and birth defects. Studies are underway to better understand the role of genetic factors in Chiari I malformation, the most common cause of syringomyelia. Scientists are studying people with a Chiari I malformation who also have a family member with either the abnormality or syringomyelia to identify the location of the gene(s) responsible for the malformation.

In some cases, birth defects may be associated with brain malformations that can cause syringomyelia. Learning how and when these defects occur during fetal development may help scientists develop strategies that can stop the formation of certain birth defects. Folic acid dietary supplements during pregnancy, for example, can reduce the risk of birth defects of the brain and spinal cord.

Treatments. NINDS scientists are conducting a five-year natural history study of individuals with syringomyelia and related conditions. By recording symptoms, muscle strength, general level of function, and MRI findings from individuals who receive standard treatment for syringomyelia, researchers hope to better understand the factors that influence its development, progression, and response to treatment. Study results may allow scientists to provide more accurate recommendations people with syringomyelia regarding optimal surgical or non-surgical treatments in the future.

Also, NIH-funded scientists are trying to find ways to stop and reverse the cell damage caused by a spinal cord injury to help individuals recover their ability to move their muscles and other functions.

Diagnostic tools. Ongoing NIH-funded research is aimed at improving diagnostic imaging techniques to better visualize conditions in the spine, including syringomyelia, even before symptoms appear.

In addition, NINDS has developed common data elements for Chiari I Malformation. This allows researchers to communicate in a common scientific language, improve data quality, and explore research opportunities that compare and combine data from multiple institutions.

More information about syringomyelia research may be found using NIH RePORTER, a searchable database of current and past research projects supported by NIH and other Federal agencies. RePORTER also includes links to publications and resources from these projects.

How can I or my loved one help improve care for people with syringomyelia?

Consider participating in a clinical trial so clinicians and scientists can learn more about syringomyelia. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You at. Learn about clinical trials currently looking for people with syringomyelia at Clinicaltrials.gov, a searchable database of current and past federal and private clinical trials.

Where can I find more information about syringomyelia?

Information may be available from the following resources:

American Chronic Pain Association
Phone: 916-632-0922 or 800-533-3231

American Syringomyelia & Chiari Alliance Project
Phone: 903-236-7079 or 800- 272-7282

Bobby Jones Chiari and Syringomyelia Foundation
Phone: 718-966-2593

Christopher and Dana Reeve Foundation
Phone: 800-225-0292 or 973-467-8270

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish

Content source: https://www.ninds.nih.gov/health-information/disorders/syringomyelia Accessed July 17, 2023.

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