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Syringomyelia

Synonyms of Syringomyelia

  • Hydromyelia
  • Morvan Disease
  • Spinal Cord Cyst
  • Syringohydromyelia

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Syringomyelia is a neurological disorder characterized by the formation of a fluid-filled cyst (syrinx) within the spinal cord. This cyst may, for unknown reasons, expand during adolescence or the young adult years, destroying the center of the spinal cord as it does.

As the syrinx expands, it affects the nerves that stimulate the patient's legs, arms, back and shoulders. In turn, the affected individual may feel considerable pain and weakness, and may lose the ability to distinguish hot from cold objects. The combination of symptoms and signs may vary considerably from person to person, depending on where in the spine the syrinx is located and how much it expands over time. Often, the symptoms develop slowly. Unless the condition is treated surgically, it may lead to neurological deficits and chronic, intense pain.

Symptoms

Individuals with syringomyelia in the upper (cervical and thoracic) part of the spinal cord may first notice 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 of feeling may spread over the shoulders and back in a "cape-like" pattern. Sinking in of an eyeball, a drooping upper eyelid, slight elevation of the lower lid, constriction of the pupil, narrowing of the opening between the eyelids, absence of sweating and flushing of the affected side of the face (Horner syndrome; Bernard-Horner syndrome; Horner's ptosis) may also occur.

Chronic progressive degeneration of the stress-bearing portion of a bone joint is another symptom of syringomyelia (Charcot joint; neuropathic arthropathy). Reflexes in the upper extremities may be absent (areflexia). Morvan disease is a more severe form of syringomyelia accompanied by ulceration of fingers and toes.

Spasticity, muscle weakness, and loss of coordinated muscle movements (ataxia) in the lower extremities may also occur. Paralysis of the bladder may also be present.

Syringomyelia is a slowly progressive disorder. Erosion of the bony spinal canal may occur in long-standing cases, as well as increased porosity of the bones (osteoporosis). Joint contractures and progressive curvature of the spine (scoliosis) are other long-term symptoms.

Causes

In most cases, syringomyelia is a congenital (present at birth) abnormality of the brain called a Chiari I malformation. The malformation occurs during the development of the fetus, for reasons that aren't well understood yet. Syringomyelia may also occur as a complication of trauma, spinal cord injury, meningitis, hemorrhage, or a tumor. Symptoms may not appear until years after the initial injury. In rare cases, syringomyelia appears to be familial or genetically transmitted.

Affected Populations

The age of onset of symptoms associated with non-traumatic or primary syringomyelia varies but is typically between 30 and 40 years. It's been estimated that there are about 40,000 cases in the United States, with approximately 1,000 new cases diagnosed every year.

Related Disorders

Syringobulbia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord that extends to involve the brain stem. Syringobulbia usually occurs as a slitlike gap within the lower brainstem that may affect the lower cranial nerves including sensory and motor nerve pathways by disruption or compression. (For more information on this disorder, choose "Syringobulbia" as your search term in the Rare Disease Database.)

Amyloid neuropathy is a hereditary disorder in which the abnormal glycoprotein "amyloid" accumulates in the nervous system and impairs its function. It often affects the elderly. (For more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database.)

Arnold-Chiari malformation is a rare malformation of the brain that is present at birth. Abnormalities at the base of the brain may include the displacement of the lower portion of the brain (cerebellum) and/or brain stem through the opening in the back of the skull (foramen magnum). Portions of the brain typically reach the spinal canal (upper cervical area). Developmental defects of the central nervous system may occur in some infants with Arnold-Chiari malformation. A sac (myelomeningocele or herniated pouch) may bulge through an abnormal opening in the spinal column and may contain portions of the spinal cord, spinal membranes, and/or cerebrospinal fluid. (For more information on this disorder, choose "Arnold-Chiari" as your search term in the Rare Disease Database.)

Neoplasms and vascular malformations in the spinal cord may also cause neurological symptoms similar to those of syringomyelia.

Standard Therapies

Diagnosis
The advent of magnetic resonance imaging (MRI) has improved the diagnosis of syringomelia markedly. The location and extent of the cyst or syrinx is much more accurately determined and treatment can begin, when appropriate, earlier than in the past. Intraoperative sonography (IOS) has been used during surgery to evaluate the effectiveness of the procedure as it is being performed.

Treatment
Treatment of syringomyelia is almost invariably surgical and consists of efforts to reroute the flow of cerebrospinal fluid by the use of diversion tubes or shunts.

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:
www.centerwatch.com

As of August 2006 there were three clinical trials listed at the NIH government site.

A trial sponsored by the National Institute for Neurological Disorders and Stroke (NINDS) is designed to learn more about how the pressure of the cerebrospinal fluid (CSF) and the flow of CSF through the channels of the brain affect the progression of syringomyelia.
The identification number for this trial is NCT00001327.

NINDS is also sponsoring a clinical trial designed to increase and improve the clinical understanding of Chiari I malformation. The identification number for this trial is NCT00004738.

In addition, NINDS is sponsoring a study that is designed to develop new surgical techniques for the treatment of syringomyelia that will avoid the invasion of the spinal cord that is associated with the placement of shunts to relieve pressure and pain. The identification number for this trial is NCT00011245.

Organizations related to Syringomyelia

References

TEXTBOOKS
Sahoo S, Pearl PL. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:590-91.

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.

Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 17th ed. Elsevier Saunders. Philadelphia, PA; 2005:2051.

Rowland LP, ed. Merritt's Neurology. 10th ed. Lippincott Williams & Wilkins. Philadelphia, PA. 2000:715-18.

Wyszynski DF. Neural Tube Defects. 1st ed. Oxford University Press, New York, NY; 2006:243.

REVIEW ARTICLES
Rusbridge C, Greitz D, Iskander BJ. Syringomyelia: current concepts in in pathogenesis, diagnosis, and treatment. J Vet Intern Med. 2006;20:469-79.

Unsgaard G, Rygh OM, Selbekk T, Kolstad F, Lindseth F, Hernes TA. Intra-operative 3D ultrasound in neurosurgery. Acta Neurochir (Wien). 2006;148:235-53; discussion 253.

Batzdorf U. Primary spinal syringomyelia. Invited submission from the joint section meeting on disorders of the spine and peripheral nerves, March 2005. J Neurosurg Spine. 2005;3:429-35.

Di Lorenzo N, Cacciola F. Adult syringomyelia. Classification, pathogenesis, and therapeutic approaches. J Neurosurg Sci. 2005;49:65-72.

Mueller DM, Oro' J. Chiari I malformation with or without syringomyelia and pregnancy: case studies and review of the literature. Am J Perinatol. 2005;22:67-70.

FROM THE INTERNET
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Syringomyelia, Isolated. Entry Number; 186700: Last Edit Date; 8/18/2006.

Campellone JV. Syringomyelia. Medical Encyclopedia. MedlinePlus. Update Date: 8/10/2004.
www.nlm.nih.gov/medlineplus/print/ency/article001398.htm

Syringomyelia Fact Sheet. National Institute of Neurological Disorders and Stroke. Last updated June 19, 2006. 6pp.
www.ninds.nih/disorders/syringomyelia/detail_syringomyelia.htm

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: 2007/09/23 00:00:00 GMT+0

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