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Syringomyelia

NORD gratefully acknowledges R. Shane Tubbs, PhD, Pediatric Neurosurgery, Children's Hospital of Alabama, for assistance in the preparation of this report.

Synonyms of Syringomyelia

  • Hydromyelia
  • Morvan Disease
  • Syringohydromyelia

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Syringomyelia is a condition characterized by a fluid-filled cavity or cyst known as a syrinx that forms within the spinal cord. Syringomyelia is a chronic condition and a syrinx can expand over time compressing or destroying the surrounding nerve tissue. A wide variety of symptoms can potentially be associated with syringomyelia depending upon the size and exact location of the syrinx. Common signs/symptoms include pain in the neck and shoulders, muscle weakness, pain and stiffness in the legs, numbness or decreased sensation especially to hot and cold, abnormal curvature of the spine (scoliosis), muscle contractions, and uncoordinated movements (ataxia). The majority of cases of syringomyelia are associated with a complex brain abnormality known as a Chiari malformation. Additional known causes of syringomyelia include tethered cord syndrome, meningitis (arachnoiditis), certain tumors of the spinal cord, and trauma. In some cases, no underlying cause can be identified (idiopathic).

Introduction
The terminology used in the medical literature to describe syringomyelia can be confusing. Syringomyelia is often associated with an abnormality of the craniovertebral junction, usually a Chiari malformation, and these cases may be referred to as congenital syringomyelia. Secondary syringomyelia refers to cases that have a known cause. The term primary syringomyelia has been used to refer to cases of unknown cause or to cases that occur because of specific known causes that damage the spinal cord. Posttraumatic syringomyelia refers to cases that result from trauma to the spinal cord (these cases are sometimes sub-classified as primary syringomyelia).

Some individuals have a condition related to syringomyelia known as hydro(syringo)myelia, which is characterized by abnormal widening of the central canal of the spinal cord (the normal small canal running through the center of the spinal cord). Some physicians use the terms syringomyelia or hydromyelia interchangeably. Hydromyelia may also be present in infants and young children with or without brain abnormalities, such as Chiari malformation type II. The fluid-filled cavities in cases of syringomyelia often do not connect to any other fluid-filled areas or spaces and occur more often in adults than children.

Symptoms

The specific symptoms and severity of syringomyelia can vary greatly from one person to another. Some individuals may not have any noticeable symptoms (asymptomatic); others may have a variety of symptoms that can progress to cause significant disability. It is important to note the highly variable nature of syringomyelia and to realize that affected individuals can have different sets of symptoms and a different rate of progression (or no progression of the disease at all).

Syringomyelia is usually slowly progressive, but rapid onset can occur. Common symptoms include pain in the neck and shoulders. Pain may also affect the arms and hands and may be described as a burning, tingling or piercing sensation. Some affected individuals also experience numbness or decreased sensation, especially to hot and cold. Muscle weakness and wasting, especially of the hands, arms, and eventually the shoulders, may also develop. The upper (cervical and thoracic) portions of the spinal cord are often affected in syringomyelia. Affected individuals may first notice a loss of feeling for pain and temperature in their fingers, hands, arms, and upper chest. In the early stages, a sense of touch is still present. A loss feeling may spread over the shoulders and back, described as a “cape-like” distribution.

Affected individuals may also develop pain and stiffness in the legs and uncoordinated movements (ataxia), eventually affecting the ability to walk. In severe cases, paralysis of the arms or legs can occur. Some affected individuals may develop muscle contractions such as small, involuntary muscle contractions or “twitches” (fasciculations).

Skeletal abnormalities can develop including the abnormal side-to-side curvature of the spine (scoliosis). In some children, scoliosis may be the only symptom. Some individuals may develop Charcot joints, in which chronic, progressive degeneration of the joint occurs because of damage to the nerves that supply the joint. Charcot joints are initially seen as swelling and redness of the affected areas. Without treatment, deformity of the affected joints can occur.

Some affected individuals develop symptoms associated with damage to the autonomic nervous system, which is the part of the nervous system that controls involuntary functions. Such symptoms include loss of bowel and bladder control, excessive sweating (hyperhidrosis), and fluctuating blood pressure levels. Horner’s syndrome, a rare condition that develops because of damage to one of the nerves that supplies the eyes and face, may also occur. Horner’s syndrome usually affects one side of the face and is characterized by a droopy eyelid, narrowing of the opening between the eyelids, decreased pupil size, and decreased sweating on the affected side of the face.

Individuals with syringomyelia associated with a Chiari malformation may develop a condition called hydrocephalus, in which there is an abnormal accumulation of cerebrospinal fluid in the skull. In infancy, hydrocephalus can cause a variety of symptoms including an abnormally enlarged head, vomiting, headache, sleepiness, irritability, seizures, and downward deviation of the eyes.

Causes

The exact, underlying reason for the formation of a syrinx is unknown. Most theories implicate the obstruction or disruption of the flow of cerebrospinal fluid (CSF) as the most common cause. CSF is a clear fluid that surrounds and is within the brain and surrounds the spinal cord. CSF has several functions including protecting and cushioning the brain and giving the brain buoyancy. CSF is also found in the central canal, a small canal that runs through the center of the spinal cord in infants. The central canal eventually collapses over time.

A variety of conditions that block or impair the normal flow cerebrospinal fluid have been associated with syringomyelia. The condition most commonly associated with syringomyelia is the Chiari malformations, a group of complex brain abnormalities that affect the area in the lower back of the skull where the brain and spinal cord connect (craniovertebral junction).

Syringomyelia can also develop following spinal cord injury (SCI). These cases are sometimes referred to as posttraumatic syringomyelia. The development of posttraumatic syringomyelia may occur many years after the initial traumatic injury.

Additional conditions that are associated with syringomyelia include certain spinal cord tumors, meningitis, inflammation of the arachnoid membrane (arachnoiditis), one of the membranes that surrounds and protects the spinal cord, and a tethered spinal cord, which is usually a stretch-induced functional disorder associated with the fixation (tethering) effect of inelastic tissue (filum terminale) found at the caudal end of the spinal cord, limiting its movement.

Spinal dysraphism (spina bifida occulta), which is characterized by malformations of the spinal canal and its contents, can also be associated with syringomyelia. Spinal dysraphism is often associated with a tethered spinal cord.

In some cases, syringomyelia can develop without any known cause. These cases are referred to as idiopathic syringomyelia.

Affected Populations

Syringomyelia most commonly presents in young adults between 20 and 40 years of age, but can also develop in young children or older adults. Some reports suggest that syringomyelia is slightly more common in males than females. One estimate places the incidence at 8.4 individuals per 100,000 in the general population in the United States.

Related Disorders

Chiari malformations are commonly associated with syringomyelia. They are a group of complex brain abnormalities that affect the area in lower back of the skull where the brain and spinal cord connect. Chiari malformations are thought to be present at birth (congenital), although in many cases, the symptoms that they cause may not become apparent until adulthood. In extremely rare cases, a Chiari malformation may be acquired during life. The exact cause of Chiari malformations is not known, but often the cavity near the base of the skull (posterior cranial fossa) is abnormally small in relation to the size of the cerebellum, which this portion of the skull encloses. Researchers believe that in some cases, the small posterior cranial fossa may cause the developing brain, specifically the cerebellum and the brainstem, to be pushed downward. Part of the cerebellum (known as the cerebellar tonsils) may protrude (herniate) through the foramen magnum, which is the normal opening found in the occipital bone at the base of the skull. The tonsils thus interfere with the flow of cerebrospinal fluid (CSF) to and from the skull and spinal canal, potentially leading to blockage of cerebral spinal fluid in the subarachnoid spaces around the brain and spinal cord. A Chiari malformation can also cause hydrocephalus (pressure due to excessive cerebrospinal fluid accumulation in the brain), potentially causing a wide variety of symptoms. The severity of Chiari malformations can vary dramatically as well. In some cases, affected individuals may not develop any symptoms (asymptomatic); in others, severe, potentially debilitating or life-threatening symptoms can develop. Traditionally, Chiari malformations have been defined and classified by how much of the cerebellum protrudes through the foramen magnum. A diagnosis of a Chiari type I malformation usually signifies that the cerebellar tonsils protrude below the foramen magnum (often cited as at least 5 millimeters). Researchers have determined that the length of tonsil descent in a Chiari malformation does not always correspond to the severity of symptoms or to the response to treatment. In fact, some individuals are classified as having Chiari malformation type 0. These individuals make up a very small percent of the Chiari population and are defined as having minimal or no descent of the cerebellar tonsils and syringomyelia that improves after surgical treatment at the base of the skull. Chiari type II malformations are seen only in patients with spina bifida. These are also herniation of the cerebellum through the foramen magnum but instead of the cerebellar tonsils, the cerebellar vermis is herniated. Syringomyelia is also very common in patients with the Chiari II malformation. Research is ongoing to understand the complex, underlying mechanisms that cause Chiari malformations. (For more information on this disorder, choose “Chiari” as your search term in the Rare Disease Database.)

There are numerous conditions that can cause neurological symptoms similar to those seen in individuals with syringomyelia including amyotrophic lateral sclerosis, central pontine myelinolysis, multiple sclerosis, spinal muscular atrophy, diabetic neuropathy, chronic inflammatory demyelinating polyneuropathy, arteriovenous malformations, and ankylosing spondylitis. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)

Syringobulbia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord that extends to involve the lower brainstem (medulla). It usually occurs as a slit-like gap within the lower brainstem that may affect one or more of the cranial nerves. Sensory and motor nerve pathways may be affected by syringobulbia. This disorder is usually associated with syringomyelia, in which the syrinx is limited to the spinal cord, and to the Chiari I malformation. (For more information on this disorder, choose “syringobulbia” as your search term in the Rare Disease Database.)

Standard Therapies

Diagnosis
A diagnosis of syringomyelia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. In some cases, syringomyelia is discovered accidently when a person is being evaluated for another reason.

Clinical Testing and Workup
A specialized imaging technique called magnetic resonance imaging (MRI) is used to diagnose syringomyelia. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues such as the brain and spinal cord. An MRI can reveal a syrinx or another condition related to syringomyelia such as an intraspinal tumor or Chiari malformation. The location and extent of the syrinx is much more accurately determined and treatment can begin, when appropriate, earlier than in the past with older diagnostic techniques (e.g., myelogram).

Treatment
The treatment of syringomyelia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, neurologists, neurosurgeons, surgeons, eye specialists (ophthalmologists) and other healthcare professionals may need to systematically and comprehensively plan an affect child’s treatment.

Specific therapeutic procedures and interventions may vary, depending upon numerous factors, such as disease progression; the presence or absence of certain symptoms; the underlying cause; the impact of symptoms on quality of life; an individual’s age and general health; and/or other elements. Decisions concerning the use of particular drug regimens and/or other treatments should be made by physicians and other members of the health care team in careful consultation with the patient based upon the specifics of his or her case; a thorough discussion of the potential benefits and risks, including possible side effects and long-term effects; patient preference; and other appropriate factors.

Some individuals with syringomyelia who do not have any symptoms may not require treatment, but should be regularly monitored to see whether the disorder progresses.

General therapeutic options include pain medications (analgesics), physical therapy, and a reduction in activities, especially those that require straining such as heavy lifting. The goal of treatment for syringomyelia is to restore the proper flow of cerebrospinal fluid and to remove the pressure that a syrinx places on the spinal cord. Initial treatment is usually targeted at the underlying cause of syringomyelia.

There is no specific, agreed-upon therapy or treatment regimen for the most common cause of a syrinx, a Chiari malformation. Neurosurgeons and other physicians may disagree as to the best approach to treat a Chiari malformation. Different neurosurgeons may recommend different surgical techniques or treatment regimens.

Like syringomyelia, individuals with a Chiari malformation who do not have symptoms are generally not treated, but monitored to see whether the disorder progresses. If mild or nonspecific symptoms are present, such as neck pain or headaches, physicians may recommend conservative treatment. Symptomatic Chiari malformations are most often treated by surgery. There are no specific criteria or objective tests that can be used to determine when to undergo surgery or the best procedures to choose. The most common surgery is known as posterior fossa decompression. With this procedure, a surgeon creates room by removing small pieces of bone in the back of the skull, thereby enlarging the foramen magnum. This relieves pressure and reduces compression of the brainstem, and may allow the cerebellar tonsils to move back to a more normal position. The surgeon may also choose to open the covering (dura mater) of the brain in this region and explore the herniated tissue and then sew in a graft (duraplasty).

If hydrocephalus is associated with the Chiari malformation-related syrinx, then the surgeon will usually treat this first. The most common surgical treatment is to place a shunt that connects the dilated ventricles of the brain to another cavity of the body. The most common cavity chosen is the abdomen. Once the hydrocephalus is treated, then the Chiari malformation is addressed.

Surgery may be used to treat other conditions that cause syringomyelia including surgery to remove a tumor. Tethered spinal cord may require surgery to release the tension of the cord.

In some cases, a tiny tube called a shunt/stent may be placed into the syrinx. The shunt allows the fluid within the syrinx to drain to an area outside of the spinal column. Shunting can stop the progression of the disorder and relieve some symptoms such as pain and headaches. However, shunts can be associated with significant side effects including spinal cord injury or infection, bleeding (hemorrhaging), and blockage.

Posttraumatic syringomyelia may be difficult to treat. Surgery is recommended for individuals with neurological deterioration and/or intractable pain. Surgery is aimed at expanding the area around the spinal cord by the site of trauma or injury and to decrease fluid volume. The insertion of shunt may also be used to treat posttraumatic syringomyelia. Shunting in posttraumatic syringomyelia carries risks including further spinal cord injury and may need to be replaced if the shunt becomes clogged or defective. Many physicians consider shunts a last resort for individuals with posttraumatic syringomyelia.

Surgery for syringomyelia can often lead to an improvement of symptoms and stabilization of the disorder in many individuals. However, syringomyelia can recur after successful treatment, thereby necessitating more operations.

After surgery, the physician will evaluate the syrinx to make sure that it stabilizes or decreases in size. These evaluations will entail obtaining an MRI.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, in the main, contact:
www.centerwatch.com

For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/

Syringomyelia Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

References

TEXTBOOKS
Tubbs RS, Oakes WJ, eds. The Chiari Malformations. Springer. New York, NY;2013:1-377.

Medow J, Sansone J, Iskandar BJ. Syringomyelia and Hydromyelia. In: Principles and Practice of Pediatric Neurosurgery, 2nd ed. Albright AL, Pollack IF, Adelson PD, eds. 2008 Thieme Medical Publishers, New York, NY. pp. 446-474.

Kasper DL, Fauci AS, Longo DL, et al., eds. Harrison’s Principles of Internal Medicine. 16th ed. McGraw-Hill Companies. New York, NY;2005:2445.

Sahoo S, Pear PL. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:590-591.

JOURNAL ARTICLES
Naftel RP, Tubbs RS, Menendez JY, et al. Worsening or development of syringomyelia following Chiari I decompression: case report. J Neurosurg Pediatr. 2013;12:351-356. http://www.ncbi.nlm.nih.gov/pubmed/23931767

Tsitouras V, Sgouros S. Syringomyelia and tethered cord in children. Childs Nerv Syst. 2013;29:1625-1634. http://www.ncbi.nlm.nih.gov/pubmed/24013332

Roy AK, Slimack NP, Ganju A. Idiopathic syringomyelia: retrospective case series, comprehensive review, and update on management. Neurosurg Focus. 2011;31:E15. http://www.ncbi.nlm.nih.gov/pubmed/22133183

Fernandez AA, Guerrero AI, Martinez MI, et al. Malformations of the craniocervical junction (chiari type I and syringomyelia): classification, diagnosis and treatment. BMC Musculoskeletal Disord. 2009;10:S1. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796052/

Batzdorf U. Primary spinal syringomyelia. Invited submission from the joint section meeting on disorders of the spine and peripheral nerves. J Neurosurg Spine. 2005;3:429-435. http://www.ncbi.nlm.nih.gov/pubmed/16381204

Di Lorenzo N, Cacciola F. Adult syringomyelia. Classification, pathogenesis, and therapeutic approaches. J Neurosurg Sci. 2005;29:65-72. http://www.ncbi.nlm.nih.gov/pubmed/16288188

INTERNET
National Institute of Neurological Disorders and Stoke. Syringomyelia Fact Sheet. April 16, 2014. Available at: http://www.ninds.nih.gov/disorders/syringomyelia/detail_syringomyelia.htm Accessed October 29, 2014.

Cacciola F. Syringomyelia. Orphanet Encyclopedia, March 2007. Available at: http://www.orpha.net Accessed October 29, 2014.

Mayo Clinic for Medical Education and Research. Syringomyelia. March 25, 2014. Available at: http://www.mayoclinic.com/health/syringomyelia/DS01127 Accessed October 29, 2014.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2014/10/30 00:00:00 GMT+0

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