Spina bifida (open back)

A Spina bifida or in German open back is a congenital neural tube defect that manifests itself in a malformation of the spine and spinal cord. After heart defects, spina bifida is the second most common congenital malformation, from which female individuals are slightly more frequently affected than males.

What is spina bifida?

As Spina bifida or. open back is a congenital neural tube defect that manifests itself as a malformation of the spinal cord and spine developing from the neural tube.

During embryonic development, the medullary groove (neural tube) does not close completely, so that a gap is formed in the lower spine area (mostly in the lumbar vertebrae and sacrum area). In spina bifida, a distinction is made between two forms based on different degrees of severity.

In spina bifida aperta (open spina bifida), both the vertebral arches and the spinal cord and its spinal cord membranes (meninges) are involved in the formation of the gap, while in the more common spina bifida occulta (hidden spina bifida) the spinal cord is not involved and largely is normally trained and functional.

causes

A Spina bifida manifests itself when the embryonic medullary groove (neural tube) does not close completely in the third to fourth week of pregnancy, so that a gap can be observed in the lower part of the spine with or without involvement of the spinal cord.

The causes of this occlusion disorder in spina bifida have not yet been fully clarified. As the risk of spina bifida is increased within the family if the disease is present, genetic factors are assumed.

In addition, a hereditary deficiency of folic acid (deficiency in vitamin B) or impaired folic acid metabolism during pregnancy has been shown to play an important role in the development of spina bifida.

Certain environmental factors such as the use of anti-epileptic drugs or poorly controlled diabetes mellitus in the early stage of pregnancy can also increase the risk of spina bifida.

Symptoms, ailments & signs

The symptoms of spina bifida can be very different, both in their type and in their severity. The symptoms that occur depend on the area of ​​the spine in which the malformation is located and how severely the spinal cord is affected. If the vertebrae are only incompletely closed or not closed at all and neither the membranes of the spinal cord nor the spinal cord are squeezed outwards, the patients usually have no symptoms.

If the open gap on the vertebral arch is larger, so that the spinal cord and spinal cord membranes bulge outwards, various effects are possible. Depending on the location of the malformation, muscle paralysis, functional disorders of the stomach and intestines or impaired perception can occur. The sensation of pain may be reduced or nonexistent. Sensitivity disorders also occur.

The muscle paralysis can cause malformations of the skeleton such as the misalignment of joints, a curvature of the spine (scoliosis) or foot malpositions such as clubfoot or buttock If the bladder function is also disturbed, frequent urinary tract infections, incontinence or an overflow bladder can result. The latter cannot or cannot be completely emptied.

If the spinal cord bulges outward so far that it pulls the cerebellum and the brain down, the circulation of the cerebrospinal fluid (liquor) is impaired. This causes hydrocephalus (head of water), which can trigger partial mental performance disorders or epileptic seizures.

Diagnosis & course

Usually a Spina bifida detected during pregnancy as part of a sonography (ultrasound examination). The probability of spina bifida can be estimated with the help of the so-called triple test, in which in the 16th week of pregnancy, based on the concentration of three specific hormones in the serum of the pregnant woman, conclusions are drawn about possible developmental disorders in the child, the extent of the malformation only after birth can be determined by additional tests.

In contrast to spina bifida occulta, which is often diagnosed by chance, a spina bifida aperta can be diagnosed postnatally due to the clearly visible malformation in the spinal area. The course of the disease depends strongly on the extent of the neural tube malformation. Spina bifida occulta usually only has mild symptoms (abnormal hair, pigmentation). In the case of open spina bifida, on the other hand, the course is more serious and can be associated with significantly more severe complications (inflammation of the spinal cord and / or the membranes of the spinal cord, kidney infections, water head, osteoarthritis).

Complications

Severe spina bifida can result in a number of complications. Sometimes the effects cannot be prevented even with the help of orthopedic-surgical therapeutic measures. The most common symptoms of open back include inflammation of the membranes of the spinal cord or the spinal cord. In addition, there is a risk of inflammation of the kidneys or osteoarthritis due to premature wear on the joints.

The extent of the sequelae ultimately depends on how many nerve fibers in the spinal cord are affected. If there is damage to the nerve fibers as in the spina bifida aperta, there is a risk of serious disabilities, while the spina bifida occulta usually does not cause any serious complaints. Because the spina bifida aperta mostly shows in the lower back, it often leads to sensory disturbances and paralysis of the legs.

Even impairments of the pain sensation are conceivable. It is not uncommon for the affected children to suffer from club feet and need a wheelchair because they cannot walk. Another serious consequence is an untreated water head. There is a risk that the intracranial pressure displaces brain tissue and damages areas that are vital, such as hearing or the ability to see. If the brain is irreparably damaged, life is threatened.

Scoliosis (curvature of the spine) is also one of the effects of spina bifida. Sometimes the rectum and bladder are also affected, leading to fecal or urinary incontinence. This is often accompanied by urinary tract infections.

When should you go to the doctor?

A doctor should always be consulted with spina bifida. Only through early detection and treatment of this complaint can further complications be prevented. For this reason, early detection is very important and is the focus of treatment. A doctor should be consulted in the case of spina bifida if the person concerned suffers from severe back problems. As a rule, various muscles are also paralyzed, so that the patient's everyday life is considerably restricted.Perception is also impaired, with most of those affected also suffering from sensory disorders.

In severe cases, certain extremities can no longer be moved at all. If these symptoms occur, the spina bifida must definitely be examined by a doctor. Incontinence or a strong curvature of the spine can also indicate spina bifida and must also be examined by a doctor. Many of those affected also show epileptic seizures. As a rule, spina bifida can be examined and treated by a general practitioner. It cannot be universally predicted whether there will be a complete healing. In the event of an epileptic fit, however, an emergency doctor should be called immediately or the hospital should be visited directly.

Treatment & Therapy

The therapy is aimed at one Spina bifida according to the extent and type of malformation. Spina bifida occulta, a mild form of the disease, is in many cases clinically or symptomatically inconspicuous and does not require any special therapeutic measures. In contrast, a pronounced neural tube defect (open spina bifida) is usually surgically treated within 24 to 48 hours and, if necessary, closed in order to minimize the risk of inflammation and increase the chances of survival of the affected child.

Nevertheless, neurological impairments (sensory disorders, paralysis, trophic disorders) and later complications cannot always be ruled out. Possible joint and foot deformations can be corrected orthopedically, physiotherapeutically and / or surgically. If there is also hydrocephalus (head of water), a shunt (catheter) is surgically placed, with the help of which the excess cerebral fluid (Liqour) can be drained and the pressure on the brain can be minimized.

If spina bifida correlates with a bladder emptying disorder, medication, a catheter or surgery can be considered to prevent possible infections (including kidney inflammation). In addition, family members of those affected and the affected children themselves, especially in severe forms of spina bifida, should receive psychological care and, in the event of impairment of mental abilities, be accompanied by appropriate support programs.

prevention

Since the causes of a Spina bifida are not conclusively clarified, the preventive measures are primarily limited to an additional intake of folic acid (vitamin B) in advance and during pregnancy. It is generally assumed that the risk of spina bifida can be reduced by about 50 percent by taking additional vitamin B.

Aftercare

In spina bifida, the options and measures for follow-up care are usually significantly limited and are only available to the person affected in very few cases. Therefore, the person affected should ideally see a doctor early and initiate treatment so that there are no other complications or complaints that could make everyday life difficult for the person concerned.

Since spina bifida is a congenital disease, it can usually not be completely cured. If you want to have children, it is advisable to have a genetic examination and counseling carried out in order to prevent the recurrence of this disease in the descendants. Various interventions are usually necessary to alleviate the symptoms.

The affected person should definitely rest and take it easy after such an operation. However, if possible, avoid exertion or stressful physical activities. In some cases, spina bifida reduces the life expectancy of those affected.

You can do that yourself

The disease is treated as soon as the person is born. Naturally, the infant cannot take any self-help measures that would help improve his or her situation. The pregnant woman should take part in all preventive examinations offered during pregnancy. During an ultrasound examination, the health disorder of the fetus can already be noticed by a doctor. In this phase it is important that extensive information about the present disease and the possible therapeutic measures is obtained.

The birth should take place in an inpatient setting so that the best possible medical steps can be taken immediately after the birth. The expectant mother should therefore visit a clinic early on before the calculated due date. Since the chances of survival of the offspring with this disease are reduced, cooperation with a doctor is imperative. It is already possible to find out what possible developments are ahead. The parents-to-be should prepare themselves adequately for the new situation from a doctor and independently.

In order to cope with the illness in everyday life, you need emotional stability and sufficient support from family members or friends. These steps should be taken into account and planned before the due date so that no situations of mental overload arise. If necessary, therapeutic help should be sought.