Any organ in the body which is either missing or formed inappropriately is known as a structural birth defect. One in a million population has a structural birth defect of the spine in our country.
Dr. Shradha Maheshwari, Consultant Neurosurgeon told HerZindai that "medically these spinal birth defects are known as Spina Bifida. They are broadly of two varieties, one which is hidden under the skin and the other where they manifest as some defect or swelling in the back. Hidden defects which are generally of milder variety and cause no or late symptoms. While the more severe open defects cause serious problems like weakness in the limbs, loss of bladder control and sensory abnormalities. Sooner or later, most of these defects do require surgical repair."
Explaining the defects and their treatments, here is what Dr. Maheshwari explained.
Types Of Spina Bifida
Broadly categorised into two main types, Spina bifida may be closed (occulta) or open (aperta).
Spina Bifida Occulta
Occulta means hidden in Latin and hence these defects are the ones which are covered by normal skin. Sometimes these defects do have external markers like a patch of hair in the lower back, discolouration of the skin or a simple dimple between the buttocks. Most of these babies do not have problems when they are born and the manifestation of their neurological issues occurs in adolescence or early adulthood.
Hence, as the name suggests, these defects are not only occult in terms of their appearance, but they are also occult in terms of causing neurological deficits. These may be associated with internal defects in the spine like tethering of the spinal cord or the presence of a bony/ cartilaginous spur causing splitting of the spinal cord (Diastematomyelia).
Spina Bifida Aperta
Aperta in Latin means open. Often presenting as swelling in the lower back, these defects tend to involve various layers of the back from skin, muscles, bony spine, meninges and spinal cord. These occur in three types, varying from mild, moderate to the most severe ones.
Meninges are the membranes that cover and protect the brain and spinal cord. Meningocoels are defects that happen when there is a small defect in the bones that cover the spinal cord through which the meninges are pushed out. They generally present as a swelling in the back. They can happen anywhere along the spinal column.
Myelomeningocele is a more severe variety of Spina Bifida. In addition to the meninges even the spinal cord or the nerve roots protrude out through the defect in a Myelomeningocele. Often these children are born with some neurological deficits. Many times these babies also have associated development problems of the brain.
This is the most severe form of spina bifida. In this variety, the spinal cord and corresponding layers of the back till the skin practically fail to develop. Most often these defects are open without any skin cover over them. They are generally associated with failure to thrive and if recognised early on, most of these pregnancies are advised to go in for termination.
Babies with spina bifida occulta usually do not need treatment immediately after birth. Most of these patients have their spinal cord tethered or stuck to the lower end of the spine. When the height of these children increases, the spinal cord gets stretched due to this tethering and produce symptoms like neurological weakness, limb height discrepancies and problems in passing urine and stools. When this happens, it is necessary to surgically detach the spinal cord and a visit to a neurosurgeon becomes inevitable.
Babies with meningocele need surgical closure to push the meninges back into the vertebrae. Most of these children do not have the nervous tissue involved and hence they grow normally as other children once the surgery is performed.
Myelomeningocele may need surgery as early as the first or second day of birth to protect the nervous tissue involved. Our job here as neurosurgeons is to try and recreate the spinal cord to as near normal as possible for the best possible neurological recovery.
Myeloschisis is the most severe variety and repair in these children is cumbersome without many fruitful results. Often needing the involvement of a multidisciplinary team of neurosurgeons, plastic surgeons and pediatricians to repair these defects, the long-term outcomes in these children are not very good. If these defects are identified earlier in pregnancy, termination of pregnancy is advisable in these patients.
Prevention is always better than cure. No disease is an exception to this. Simple measures during pregnancy can help a lot of women to avoid spinal birth defects as well as other birth defects in the child. Folic acid supplementation before and during the pregnancy is one of the simplest measures to avoid spinal birth defects. High-risk mothers like those with epilepsy, depression or high risk families like those having genetic problems should plan their pregnancies in consultation with specialist doctors. The most accurate way of detecting a defect in the spinal cord before birth is prenatal ultrasonography.
With fetal surgery coming into the picture now, spina bifida can be operated as early as 25th week of pregnancy in the womb itself. Once the parents are faced with a baby with spinal birth defects, taking appropriate and timely help from a neurosurgeon will help in giving their children as normal a life as possible.
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