Última actualización:
September 23, 2007
Años publicados: 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993, 1999, 2006, 2007
Spina bifida is characterized by incomplete closure of certain bones of the spinal column (vertebrae), leaving a portion of the spinal cord exposed. Part of the contents of the spinal canal may protrude through this opening. In the most severe form, rachischisis, the opening is extensive. Spina bifida may cause difficulties with bladder control, walking and/or other functions, depending on the severity of associated symptoms.
Patients with spina bifida have a wide variety of symptoms and physical findings, depending on the extent of the defect in the spine. The mildest form of the condition, spina bifida occulta, causes few if any symptoms, and may go undetected. In this mild form, the lack of closure of the neural tube affects only a small area of the spine and is found on X-rays. The disorder may be suspected because of a dimple or tuft of hair on the back overlying the affected area. Impaired bladder control is a common finding, even with relatively mild forms of the condition.
In more severe forms of spina bifida, a sac (meningocele or myelomeningocele) may push its way out through the opening. A meningocele involves the meninges, the tough membrane that covers and protects the brain and cord. This sac may be small or it may be as large as a grapefruit. The meningocele may be covered with skin, or the nerve tissue may be exposed. Generally the sac contains cerebrospinal fluid (CSF). A myelomeningocele represents the most severe form of spina bifida and indicates that a portion of the spinal cord itself has pushed through the spinal (vertebral) opening into the sac in the back of the torso.
The malformation of the lower spinal cord causes abnormalities of the lower trunk and extremities of varying severity. If the condition is mild, the person may only experience some muscle weakness and impaired skin sensations. In patients with meningocele, accumulation of cerebrospinal fluid in the brain results in enlargement of the head (hydrocephalus) and possible brain damage.
Although spina bifida is usually present at birth, it occasionally is first seen during adolescence. The rapid growth during this time stretches the shortened nerves and may cause progressive weakness. Prenatal testing for spina bifida is available. However, this test is not absolutely reliable.
The exact cause of spina bifida is not known. A combination of hereditary and environmental factors may be involved. Studies have also indicated that a lack of folic acid in the mother’s diet during pregnancy heightens the risk of spina bifida and other neural tube defects.
In most cases, babies with spina bifida and other neural tube defects are born into families with no history of these disorders. However, if a child in a family has spina bifida, the likelihood of the parents having another child with this disorder in the future is increased.
Spina bifida is the most common neural tube defect in the United States. Between 1,500 and 2,000 babies out of about 4 million births are born with this disorder each year in the United States.
Prevention
The U.S. Public Health Service (PHS) advises women of childbearing age to take 0.4 mg of folic acid daily, either through diet or low dose supplements. Women are urged not to take more than 1.0 mg of folic acid daily unless advised by a physician because high doses of folic acid can mask other vitamin deficiencies.
Treatment
The mildest cases of spina bifida may not require treatment. The moderate cases require a decision as to whether or not surgery is advisable. Surgery may prevent the worsening of the condition in some instances, but cannot restore the lost function. In those extreme cases where the sac (meningocele) breaks or appears about to break, immediate surgery becomes essential.
The family doctor or the orthopedist may prescribe corrective shoes, braces, crutches, or other devices. These help the affected individual to make the most effective use of the weakened muscles, and to prevent the arms and legs from being maintained in an improper or awkward position. Range of motion exercises may also be helpful.
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 website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
Currently (2006), there are two clinical studies dealing with this condition listed on www.clinicaltrials.gov. One explores the condition’s genetics and the other examines coping skills of children with chronic health problems. Spina bifida is included in this study.
TEXTBOOKS
Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:2224-25.
Berkow R., ed. The Merck Manual-Home Edition. 2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:1511, 1526.
Wyszynski DF. Neural Tube Defects. 1st ed. Oxford University Press, New York, NY; 2006: various.
Rowland LP. Ed. Merritt’s Neurology. 10th ed. Lippincott Williams & Wilkins. Philadelphia, PA. 2000:492-93, 497-98.
REVIEW ARTICLES
Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom. (Kyoto). 2006;46:55-67.
Xiao CG. Reinnervation for neurogenic bladder: historic review and introduction of a somatic-autonomic reflex pathway procedure for patients with spinal cord injury or spina bifida. Eur Urol. 2006;49:22-28.
Bruner JP, Tulipan N. Intrauterine repair of spina bifida. Clin Obstet Gynecol. 2005;48:942-55.
Vernaes IP, Janssens JM, Bosman AM, Gerris JR. Parents’ psychological adjustments in families of children with spina bifida: a meta analysis. BMC Pediatr. 2005;5:32.
Mwenon P, Rao KL. Current status of fetal surgery. Indian J Pediatr. 2005;72:433-36.
Mitchell LE. Epidemiology of neural tube defects. Am J Med Genet C Semin Med Genet. 2005;135:69-76.
Dias MS. Neurosurgical management of myelomeningocele (spina bifida). Pediatr Rev. 2005;26:50-60.
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS. Spina bifida. Lancet. 2004;364:1885-95
FROM THE INTERNET
McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Neural Tube Defects. Entry Number;182940: Last Edit Date; 8/18/2006.
McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Neural Tube Defects. X-Linked. Entry Number; 301410: Last Edit Date; 7/31/2006.
McKusick VA, Ed. Online Mendelian Inheritance in Man IN MAN (OMIM). The Johns Hopkins University. Neural Tube Defects. Folate-Sensitive. Entry Number; 601634: Last Edit Date; 8/30/2006.
NINDS Spina Bifida Information Page. National Institutes of Health. Last updated January 25, 2006. 7pp.
www.ninds.nih.gov/disorders/spina_bifida/spina_bifids.htm
Myelomeningocele (children). Medical Encyclopedia. MedlinePlus. Last Updated: 11/10/2004. 4pp.
www.nlm.nih.gov/medlineplus/ency/article/001558.htm
NORD y la Fundación MedicAlert se han asociado en un nuevo programa para brindar protección a pacientes con enfermedades raras en situaciones de emergencia.
Aprende más https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Asegurarse de que los pacientes y los cuidadores estén equipados con las herramientas que necesitan para vivir su mejor vida mientras manejan su condición rara es una parte vital de la misión de NORD.
Aprende más https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/Este programa de asistencia, primero en su tipo, está diseñado para los cuidadores de un niño o adulto diagnosticado con un trastorno raro.
Aprende más https://rarediseases.org/patient-assistance-programs/caregiver-respite/