Spina bifida

July 2017


Definition


Spina bifida is a birth defect that appears at the embryonic stage. It consists of a bone defect in the form of a crack in the rear portion of the spine, due to a lack of ossification of the vertebrae. The spinal cord, which passes through the spine (also called the backbone), thus protrudes through this space, and is not functional. There are two forms of spina bifida: spina bifida occulta is a mild and fairly common form and is not responsible for any symptoms, spina bifida aperta, typically called just spina bifida which is the more severe form of disease. Often, other abnormalities coexist, either in the brain or other parts of the spinal cord.

Symptoms


The symptoms caused by spina bifida depend on the location of the infringement. Classically, there is:
  • a visible malformation of the spine, in the form of a red patch of skin that is sometimes open at birth;
  • Paralysis located higher or lower in the body:
    • few motor issues if the injury is very low;
    • motor disorders of the lower limbs if the infringement is located on the lumbar vertebrae;
    • major motor disorders of the lower limbs with inability to walk, in the case of infringement of the dorsal vertebrae;
  • sensitivity disorders;
  • urinary and digestive disorders, such as incontinence or bowel dysfunction with constipation problems;
  • genital issues, such as erectile dysfunction and premature ejaculation in men.

Spina bifida is often associated with other anomalies, including hydrocephalus: an excess of cerebrospinal fluid in the brain. This hydrocephalus may be responsible for other symptoms and mental disorders.

Diagnosis


Spina bifida is easy to diagnose in its severe form. It can even be detected before birth during with an ultrasound. In the occulta form, which is not responsible for any symptoms, it is often found on a radiograph of the spine, and requires no management. Examinations such as radio of the spine, a CT scan or MRI can identify more precisely the severity of spina bifida.

Treatment


Spina bifina can be treated through surgery performed at birth. This intervention aims to close, reintroduce and reset any displaced nerve structures. However, the affected nerves cannot be treated. In case of hydrocephalus, a shunt must be implemented to allow the removal of cerebrospinal fluid in excess. As a follow-up, the treatment consists of educating children to give them maximum autonomy despite their disability. It is often necessary to use specialized equipment, sometimes a wheelchair. As for urinary incontinence, parents, and then the child himself must learn to adapt. Treatments fighting against constipation are associated. These solutions improve the quality of life of patients.

Prevention


Prevention of spina bifida is possible. It is important for women to plan their pregnancies and start, at least four weeks before the possibility of getting pregnant, treatment with vitamin B9, also called folic acid. Taking this vitamin has the effect of reducing the risk of certain birth defects, including spina bifida. Folic acid should be taken in larger doses for some women: those who have had a child with spina bifida, smokers, women who regularly consume alcohol, or those in need of treatment against epilepsy.

Related

Original article published by . Translated by Jeff. Latest update on July 23, 2013 at 12:21 PM by Jeff.
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