Pathophysiology, types of spina bifida, symptoms, risk factors, diagnosis and treatment.
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Spina bifida, or split spine, is a common birth defect of the spine and spinal column. It occurs when the neural tube – the embryonic structure that gives rise to the brain, spinal cord and surrounding tissues – does not close properly. When this happens, some of the vertebrae fail to form a complete arch around the spinal cord, leaving an opening in the spinal column, typically in the lower back.
In mild cases, called spina bifida occulta, only a small gap is formed and there are no other abnormalities. The baby may have a small dimple or birthmark with a tuft of hair on the back, but has no symptoms and does not require treatment.
When the opening is large enough, a sac containing spinal fluid may protrude out of the spine. This is known as spina bifida cystica. When the sac contains only the meninges – the membranes surrounding the spinal cord, the condition is known as meningocele. Babies with meningocele typically experience mild symptoms.
Myelomeningocele is when the protruding sac contains both the meninges and the spinal cord, and is the most severe form of spina bifida. Babies with myelomeningocele are prone to life-threatening infections and may suffer from lower limb paralysis, as well as bladder and bowel dysfunction.
Myelomeningocele also often associates with accumulation of fluid in the brain (hydrocephalus), and Chiari malformation type II, where the brainstem and cerebellum drop below their normal position, causing problems with breathing and swallowing.
The cause of spina bifida is not well understood, but is likely to involve genetic, nutritional and environmental components.
Folic acid deficiency during pregnancy is a well-established risk factor. Because the defect occurs in the early weeks of gestation, folic acid –rich foods and/or supplements must be started when planning pregnancy to effectively reduce the risk. Having had a child with spina bifida also increases the chance of having another child with the condition. Other risk factors include diabetes, obesity, some medications, and elevated body temperature either due to a fever or use of a sauna or hot tub during the first month of pregnancy.
Spina bifida is typically diagnosed during routine prenatal exams. A protein produced by the fetus called alpha-fetoprotein (AFP), can leak into the amniotic fluid and the mother’s blood circulation through the neural tube’s opening, and can be detected with maternal blood test or amniocentesis. However, ultrasound remains the most accurate method for spina bifida diagnosis, especially during the second trimester scan.
Severe cases of spina bifida are usually treated with fetal surgery, which takes place before the 26th week of pregnancy. Prenatal surgery may help reduce disability and the risk of developing hydrocephalus.
Myelomeningocele identified at birth requires surgery to close the opening within 72 hours. A shunt may be placed in the baby's brain to control hydrocephalus. Most children with severe form of spina bifida also require orthopedic care, bowel and bladder management, as well as treatment of other complications.