National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Syringobulbia is not the name you expected.
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
- Amyloid Neuropathy
- Arnold-Chiari Malformation
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.
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.
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.
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.
The diagnosis of syringobulbia is made by means of neuroimaging, typically magnetic resonance imaging (MRI).
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.
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
For information about clinical trials sponsored by private sources, contact:
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.
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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.
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.
American Syringomyelia & Chiari Alliance Project
P.O. Box 1586
Longview, TX 75606-1586
National Spinal Cord Injury Association
75-20 Astoria Blvd
Jackson Heights, NY 11370
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
American Spinal Injury Association
2020 Peachtree Road NW
Atlanta, GA 30309
World Arnold Chiari Malformation Association
31 Newtown Woods Road
Newtown Square, PA 19073
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Christopher S. Burton Syringomyelia Foundation, Inc.
P.O. Box 100335
Fort Lauderdale, FL 33310-0335
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Last Updated: 9/23/2007
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