$Unique_ID{BRK04249} $Pretitle{} $Title{Syringobulbia} $Subject{Syringobulbia Syringomyelia Amyloid Neuropathy Arnold-Chiari Syndrome } $Volume{} $Log{} Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 382: Syringobulbia ** IMPORTANT ** It is possible the main title of the article (Syringobulbia) is not the name you expected. Please check the SYNONYMS section to find other disorders covered by this article. Synonyms Information on the following diseases can be found in the Related Disorders section of this report: Syringomyelia Amyloid Neuropathy Arnold-Chiari Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Syringobulbia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the brain stem. The cavity is a congenital lesion, but for unknown reasons it often expands during adolescence or the young adult years. 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. Symptoms Syringobulbia 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. Syringobulbia is a slowly progressive disorder. Porous bones (osteoporosis) may occur in long-standing cases. Causes Syringobulbia is most often a congenital disorder of unknown cause. In some cases the disorder may be inherited, but the mode of transmission is unknown. The disorder may be associated with an excess of a type of nerve cells that constitute the white matter of the brain (astrocytes) in damaged areas of the central nervous system, or the formation of cavities in the brainstem. Frequently, there is an association with an exposed spinal cord (spina bifida), an extra rib arising from a neck vertebra (cervical rib), or asymmetry of the skull. Affected Population Syringobulbia can affect persons of either sex. It usually occurs before 30 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 virtually along 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.) The Arnold-Chiari Syndrome is characterized by a displacement of the brainstem into the spinal cord. Infants with the disorder may exhibit symptoms such as vomiting, mental impairment, and weakness. There may possibly be paralysis of the extremities. The Arnold-Chiari Syndrome usually appears in a milder form in adolescents. Swelling of the optic nerve region (papilledema), nystagmus, ataxia, transient abnormal sensations (paresthesias) and paralysis affecting the eyes or lower cranial nerves may also occur. (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. Therapies: Standard An accurate diagnosis of Syringobulbia can be arrived at by using myelography, as well as MRI (magnetic resonance imaging). Intraoperative Sonography has been used during surgery to evaluate the effectiveness of the procedure as it is being performed. Other treatment of Syringobulbia is symptomatic and supportive. Radiation has not proven to be of any benefit in treatment of this disorder. Therapies: Investigational Plugging of the obex at the lower end of the fourth ventricle of the brain has been advocated by some for treatment of Syringobulbia, but the effects of this surgical procedure are hard to evaluate, since the natural course of the disorder is variable. Consideration of such radical experimental surgery should be carefully made. This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Syringobulbia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Spinal Cord Injury 2201 Argonne Drive Baltimore, MD 21218 24-Hour Hotline, 1-800-526-3456 In Maryland, 1-800-638-1733 American Spinal Injury Association 250 E. Superior Street, Room 619 Chicago, IL 60611 (312) 649-3425 National Spinal Cord Injury Association 600 W. Cummings Park Woburn, MA 01801 References SYRINGOBULBIA AS A CAUSE OF LARYNGEAL STRIDOR IN CHILDHOOD: H. Alcala, et. al.; Neurology (NY) (September 1975: issue 25,9). Pp. 875-878. INFANTILE HYPOVENTILATION SYNDROME, NEURENTERIC CYST, AND SYRINGOBULBIA: H.D. Chung, et. al.; Neurology (NY) (April 1982: issue 32,4). Pp. 441-444.