$Unique_ID{BRK04258} $Pretitle{} $Title{Tethered Spinal Cord Syndrome} $Subject{Tethered Spinal Cord Syndrome Occult Spinal Dysraphism Sequence Tethered Cord Syndrome Tethered Cord Malformation Sequence Tethered Cervical Spinal Cord Syndrome Congenital Tethered Cervical Spinal Cord Syndrome Diastematomyelia Spina Bifida } $Volume{} $Log{} Copyright (C) 1990 National Organization for Rare Disorders, Inc. 779: Tethered Spinal Cord Syndrome ** IMPORTANT ** It is possible that the main title of the article (Tethered Spinal Cord Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Occult Spinal Dysraphism Sequence Tethered Cord Syndrome Tethered Cord Malformation Sequence Tethered Cervical Spinal Cord Syndrome Congenital Tethered Cervical Spinal Cord Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Diastematomyelia Spina Bifida 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. Tethered Spinal Cord Syndrome is a disorder characterized by progressive neurological deterioration due to unnatural stretching of the spinal cord caused by adhesions on the vertebrae. It most commonly results from defective closure of the neural tube during embryonic development (Spina Bifida). Symptoms Initial symptoms of Tethered Spinal Cord Syndrome are usually urological and may include the inability to control urination (incontinence) and repeated urinary tract infections. Children who have tethered spinal cords usually show progressive foot and spinal deformities. At birth there is also usually a characteristic lesion on the skin of the lower back. These lesions may consist of tufts of hair, skin tags, dimples or fatty tumors. Other symptoms may include weakness of the lower extremities, inability to control bowel function (fecal incontinence), low back pain or a combination of these symptoms. Adult onset of the disorder is very rare. When it does occur, the individual initially shows no symptoms. Later, the most common symptom is diffuse leg pain which may reach as high as the rectum. Progressive sensory and motor deficits may occur in the lower extremities, as well as bladder and bowel dysfunction. Scientists believe that the amount of pulling force (traction) exerted on the spinal cord, rather than the type or distribution of lesions that are causing the pulling, probably determines the age of onset of symptoms. Less severe traction usually produces no symptoms in childhood, but may result in neurological dysfunction in later life due to repeated tugging at the base of the spinal cord during natural head and neck flexion, or when the condition is aggravated by trauma or disease. Causes The presence of adhesions on vertebrae is believed to be the cause of Tethered Spinal Cord Syndrome. These adhesions may be the result of structural defects arising from improper closure of the neural tube (Spina Bifida) at approximately 28 days of embryonic development. Failure of proper development in this area may lead to a wide variety of orthopedic or urologic symptoms through tethering or compression of the nerve roots. Children with benign skin tumors (cutaneous hemangiomas) on the lower back may also have tethered spinal cords. Tethered Spinal Cord Syndrome is also occasionally associated with diastematomyelia, a disorder characterized by diversion of the spinal cord by a midline septum during embryonic development. Affected Population Tethered Spinal Cord Syndrome affects males and females equally. First degree relatives of those with the malformation appear to be at slightly higher risk of developing it. Individuals with previously repaired defects of the neural tube are also particularly susceptible to this disorder. Related Disorders The following disorders are often associated with Tethered Spinal Cord Syndrome. Diastematomyelia is a rare and very serious spinal cord malformation. It is believed to be caused by genetic or environmental factors during the embryonic development which causes a longitudinal division in half of the spinal cord. In some cases, there are abnormalities of the vertebrae due to the adjustment necessary for encasing the two halves of the spinal cord. Diastematomyelia is often associated with Spina Bifida (failure of the neural tube to close completely), clubfoot or Tethered Spinal Cord Syndrome. Symptoms may include pain, weakness of legs and loss of control over urinary and fecal functions (incontinence). Surgery during infancy is often recommended. However, later in life, surgery is performed only if neurological symptoms develop. Spina Bifida is a disorder characterized by defective closure of the neural tube through which the spinal cord may bulge. It may range in severity from presenting no symptoms to severe neurological disability. One or more of the individual bones of the spine fail to close completely, leaving a cleft or defect in the spinal canal. Through such an abnormal opening, part of the contents of the spinal canal can protrude or herniate. In mild cases, the disorder may not be diagnosed unless an X-ray is taken, usually for other purposes (e.g., back injury). (For more information on this disorder, choose "Spina Bifida" as your search term in the Rare Disease Database.) Therapies: Standard The appearance and recognition of surface lesions on the lower back at birth should lead to further testing for Tethered Spinal Cord Syndrome. Magnetic resonance imaging (MRI) is usually the technique of choice for identifying the tethered spinal cord. Pre-operative evaluation of potential sites of tethering, based on MRI findings, is very important for planning surgery. Removal of adhesions at the lower base of the spine through surgery is often recommended, and results are usually successful. Early management usually prevents neuromuscular, lower limb or urologic problems. It is usually best to treat the tethered cord before serious complications become apparent, as neurologic damage may not be reversible. In cases where surgical release of the tethered spinal cord is ineffective, a posterior rhizotomy, in which certain spinal nerve roots are severed, may be performed to relieve pain. Therapies: Investigational This disease entry is based upon medical information available through March 1990. 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 Tethered Spinal Cord Syndrome, 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 Spina Bifida Association of America 4590 Macarthur Blvd., NW, #250 Washington, DC 20007-4226 (202) 944-3285 (800) 621-3141 Spina Bifida Association of Canada 633 Wellington Crescent Winnepeg, Manitoba R3M 0A8 Canada International Federation for Hydrocephalus and Spina Bifida c/o RBU Gata 3 11138 Stockholm Sweden Contact: David Bagares References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Company, 1988. Pp. 550. UROLOGIC ASPECTS OF TETHERED CORD. R.C. Flanigan et al.; UROLOGY (January, 1989: issue 33 (1)). Pp. 80-82. DIAGNOSIS OF TETHERED CORDS BY MAGNETIC RESONANCE IMAGING. W.A. Hall et al.; SURG NEUROL (July, 1988; 30 (1)). Pp. 60-64. TETHERED CORD SYNDROME: A PEDIATRIC CASE STUDY. L. Greif et al.; J NEUROSCI NURS (April, 1989: issue 21 (2)). Pp. 86-91. LUMBAR CUTANEOUS HEMANGIOMAS AS INDICATORS OF TETHERED SPINAL CORDS. A.L. Albright et al.; PEDIATRICS (June, 1989: issue 83 (6)). Pp. 977-980.