Doctor's Notes on Spina Bifida
Spina bifida is a birth defect affecting the spinal column where it forms a cleft or splitting in the back part of the backbones (spinal vertebrae); in some patients, the more severe form involves the spinal cord. There are three main types of spina bifida, spina bifida occulta with no symptoms or signs (usually discovered by accident), meningocele (with a lump or cyst visible but usually without other signs or symptoms) and the third, spina bifida cystica, also termed myelomeningocele or Spina bifida; it is the most severe form because a section of the spinal cord and the nerves that extend from the spinal cord are visible and unprotected at birth on the outside of the back. Most infants will undergo surgery within the first 48 hours of life to close this defect. This symptom and sign is seen in most cases of human spina bifida. Other signs and symptoms are actually complications of the birth defect. Signs and symptoms can be leg paralysis, spinal curvature, hips, foot, and leg deformities and difficulties with bowel and bladder control. Because of potential fluid accumulation in the brain, some patients develop neurological problems and/or decreased mental status. Other signs and symptoms include pathologic bone fractures, learning disorders, psychological, social and sexual problems.
Researchers suggest that both genetic factors and environmental factors such as nutrition along with exposure to harmful substances probably contribute to causing spina bifida. Other researchers have suggested that some people with spina bifida have an abnormal metabolism of folic acid.
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Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.