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Syringobulbia

Synonyms of Syringobulbia

  • No synonyms found.

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Syringobulbia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord that extends to involve the brainstem (medulla). It usually occurs as a slit-like gap within the lower brainstem that may affect one or more of the cranial nerves, causing facial palsies of various kinds. In addition, sensory and motor nerve pathways may be affected by compression and/or interruption. This disorder is intimately associated with syringomyelia, in which the syrinx is limited to the spinal cord, and to the Chiari I malformation.

Symptoms

Usually, syringobulbia presents after syringomyelia, although isolated cases of syringobulbia have been documented.

Syringobulbia is a slowly progressive disorder that may cause dizziness (vertigo), involuntary rapid movement of the eyeball (nystagmus), and loss of feelings of pain and temperature in the face. Atrophy and small local involuntary contractions (fibrillation) of the tongue muscle may also occur, as well as stuttering (dysphonia), and a shrill or harsh voice. Symptoms may also include impaired vision, numbness, and an unsteady way of walking (gait instability).

Other symptoms may include hearing loss or ringing in the ears (tinnitus) and periodic limb movements. In rare cases, nausea, vomiting, and feeding difficulties may be early symptoms.

Causes

The cause of Syringobulbia is unknown. The disorder is usually present from birth.

Affected Populations

Syringobulbia can affect people of either sex. It usually is apparent before 30 years of age. In one study of a pediatric population, the average age of onset of symptoms was just under 15 years of age.

Related Disorders

Syringomyelia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord. The cavity is a congenital lesion, but for unknown reasons it often expands during adolescence or the young adult years. The syrinx is situated near the middle of the spine. It usually begins in the neck (cervical) area, but may extend to almost its whole length. (For more information on this disorder, choose "Syringomyelia" as your search term in the Rare Disease Database.)

Amyloid neuropathy is a hereditary disorder in which an abnormal glycoprotein, called amyloid, accumulates in the nervous system in amounts sufficient to impair 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 and characterized by the downward displacement of the lower brainstem into the spinal canal. (For more information on this disorder, choose "Arnold-Chiari" as your search term in the Rare Disease Database.)

Neoplasms and vascular malformations in the brainstem may also cause neurological symptoms similar to those of syringobulbia.

Standard Therapies

Diagnosis
The diagnosis of syringobulbia is made by means of neuroimaging, typically magnetic resonance imaging (MRI).

Treatment
Treatment of syringobulbia is almost invariably surgical and consists of efforts to reroute the flow of cerebrospinal fluid by the use of diversion tubes or shunts. The various surgical approaches for syringobulbia usually must be combine with treatment for syringomyelia.

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

The National Institute of Neurological Disorders and Stroke (NINDS) is sponsoring a study that is designed to develop less invasive surgical techniques for the treatment of syringobulbia. For information about this study, visit the www.clinicaltrials.gov web site or contact the NIH Patient Recruitment office listed above. The identification number for this trial is NCT00011245.

Organizations related to Syringobulbia

References

TEXTBOOKS
Sahoo S, Pearl PL. Syringobulbia. 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.

JOURNAL ARTICLES
Greenlee JD, Menezes AH, Bertoglio BA, Donovan KA. Syringobulbia in a pediatric population. Neurosurgery. 2005;57:1147-53.

Aryan HE, Yanni DS, Nakaji P, Jandial R, Marshall LF, Taylor WR. Syringocephaly. J Clin Neurosci. 2004;11:421-23.

Jha S, Das A, Gupta S, Banerji D. Syringomyelia and syringobulbia presenting only with paralysis of the 9th and 10th cranial nerves. Acta Neurol Scand. 2002;105:341-43.

Penarrocha M, Okeson JP, Penarrocha MS, Angeles Cervello M. Orofacial pain as the sole manifestation of syringobulbia-syringomyelia associated with Arnold Chiari malformation. J Orofac Pain. 2001;15:170-73.

FROM THE INTERNET
Saremi F, Zee C-S. Syringohydromyelia. emedicine. Last updated: July 8, 2003. 8pp.
www.emedicine.com/radio/topic670.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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