Syringobulbia

Syringobulbia

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Syringobulbia is not the name you expected.

Disorder Subdivisions

  • None

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.

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.

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

Resources

American Syringomyelia & Chiari Alliance Project

P.O. Box 1586

Longview, TX 75606-1586

Tel: (903)236-7079

Fax: (903)757-7456

Tel: (800)272-7282

Email: info@asap.org

Internet: http://www.asap.org



National Spinal Cord Injury Association

75-20 Astoria Blvd

Jackson Heights, NY 11370

USA

Tel: (718)803-3782

Tel: (800)962-9629

Email: info@spinalcord.org

Internet: http://www.spinalcord.org



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



American Spinal Injury Association

2020 Peachtree Road NW

Atlanta, GA 30309

Tel: (404)355-9772

Fax: (404)355-1826

Email: ASIA_Office@shepherd.org

Internet: http://www.asia-spinalinjury.org/



World Arnold Chiari Malformation Association

31 Newtown Woods Road

Newtown Square, PA 19073

Tel: (610)353-4737

Email: chiari-owner@yahoogroups.com

Internet: http://www.wacma.com



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Christopher S. Burton Syringomyelia Foundation, Inc.

P.O. Box 100335

Fort Lauderdale, FL 33310-0335

Tel: (954)727-5137

Fax: (954)636-2409

Email: info@thesmfoundation.org

Internet: http://www.thesmfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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