Rhachischisis is a condition present from birth where the bones of the spine do not close properly during development in the womb, leaving part of the spinal cord exposed. The word comes from Greek and means something like "split spine".
How does rhachischisis develop?
Early in pregnancy, the unborn baby forms what is called the neural tube. This later develops into the spinal cord and spine. In rhachischisis, the neural tube does not close fully along the spine. This leaves part of the spinal cord unprotected and open at the surface. Depending on which section is affected, the condition can occur at different points along the spine. It is most common in the lower back, but can sometimes affect the neck or chest area.
This condition belongs to a group called neural tube defects. One better-known example is spina bifida, where the spinal canal is not fully closed but the spinal cord is usually still covered by skin or membranes. Rhachischisis is more severe because the spinal cord itself is exposed and has no protection at all.
What does this mean for those affected?
Rhachischisis is a serious condition. The open spinal cord is very delicate and can be injured easily. This means the nerves that travel from the spinal cord into the body do not work properly. Depending on how severe the condition is, it can cause paralysis, loss of feeling, or problems controlling the bladder and bowel. Many affected babies are already severely impaired at birth.
In many cases, the condition is so severe that the newborn's life is greatly limited. Further complications can already be present in the womb, such as problems with brain development or the development of other organs. Life expectancy is usually significantly reduced in pronounced rhachischisis.
Causes and risk factors
Why the neural tube sometimes fails to close properly is not always clear. One important risk factor is a lack of folic acid during early pregnancy. Folic acid is a vitamin that is especially important for the development of the nervous system. This is why women who are trying for a baby are advised to take folic acid before becoming pregnant. Certain genetic factors or conditions affecting the mother can also increase the risk.
Diagnosis and detection
Rhachischisis can often be detected before birth. Modern ultrasound scans during pregnancy can show whether the baby's spine is closed or whether a defect is present. In some cases, a special test of the amniotic fluid is also carried out to look for signs of a neural tube defect. After birth, the condition is usually visible straight away.
Are there treatment options?
Treatment options for rhachischisis are very limited. Because the spinal cord is exposed and severely damaged, the effects usually cannot be reversed. An operation can sometimes close the open area, but the nerve damage remains. In many cases, intensive medical care is needed to prevent complications such as infections and to improve quality of life.
When the condition is found before birth, expectant parents often face very difficult decisions. The outlook for pronounced rhachischisis is unfortunately very poor. Many pregnancies end early, either through natural miscarriage or through a medically supported termination.
Common worries and questions
A diagnosis of rhachischisis causes great distress for parents. Many wonder how this could have happened and whether anything could have been done to prevent it. The prospect of severe disability or a very short life for the child is especially hard to bear. Many parents also worry about the chances of it happening again: in most cases, the risk for future children is only slightly increased, especially if folic acid intake is kept at a good level.
It is important to know that nobody is personally to blame for rhachischisis developing. Many factors play a role, and the cause often cannot be pinpointed. Counselling and conversations with specialist doctors can help families better understand the situation and plan the next steps.
Prevention
The most effective protection against neural tube defects such as rhachischisis is a good intake of folic acid. Women who are hoping to become pregnant should take folic acid daily before conception and during the first weeks of pregnancy. This can significantly reduce the risk of this serious condition. Doctors are happy to give advice on this and can recommend the right dosage.
Rhachischisis is a rare but very serious developmental condition that has a profound effect on the lives of affected children and their families. Early diagnosis and thorough counselling are essential to help manage the situation as well as possible.
