Spina bifida (spina bifida) - treatment, symptoms, causes, diagnosis

Spina bifida (spina bifida) is a complex congenital defect in the development of the spinal cord and spine. This is a type of open neural tube defect in which there is abnormal development of the back parts of the spine, spinal cord, surrounding nerves and/or the fluid-filled sac that surrounds the spinal cord.

Spina bifida (spina bifida) is an incurable, lifelong condition that affects the neuromuscular and musculoskeletal systems.

This defect varies among types and ranges from moderate to severe.

Children with this defect may need corsets as their bodies grow, and in severe forms, a wheelchair.

Treatment is mainly aimed at slowing down the deformity and maintaining motor activity.

The defect can occur along the entire length of the spine and may result in part of the spinal cord and surrounding tissue protruding outward rather than inward. Approximately 85 percent of defects occur in the lower back and 15 percent in the neck and thoracic region. Surgically, it is possible to restore the integrity of the spinal column, but nerve damage cannot be restored, and if it is severe, patients experience varying degrees of paresis of the lower extremities. The higher the defect is on the spinal column, the more severe the nerve damage and motor disorders (paresis and paralysis).

According to studies, this developmental anomaly occurs in 7 cases per 10,000 newborns. There are several types of spina bifida, which vary in severity.

Hidden spina bifida (spina bifida occulta) is the mildest form, in which there are no obvious signs of malformation and changes in the skin. In this form, at least one vertebra is changed, but the nerves and spinal cord do not bulge. The baby may have a spot or depression in the area of the abnormality at birth. And, usually, the child will not have symptoms. With this form of anomaly (as well as with others), there may be an anomaly in the development of the spinal cord, characterized by the attachment of the spinal cord to the spine to the end of the lumbar region, when normally the spinal cord ends at the level of the first lumbar vertebrae and hangs freely without attachment to the spine.
Meningocele is a moderate anomaly (and the most common) in which the spinal canal is not closed properly and the meninges (membranes that cover the spinal cord) bulge beyond the bony structures of the spinal canal, but the spinal cord itself remains intact. The cystic mass is covered by skin. Most children with meningocele have normal limb function, but may have partial paresis or bladder or bowel dysfunction. With this anomaly, there is often underdevelopment of the spinal cord. Almost all patients with this abnormality require surgery to close the defect and free the spinal cord.
Lipomeningocele is an abnormality in which fatty tissue is attached to the spinal cord and puts pressure on it. Children with this form of the anomaly may not have serious nerve damage, but may experience bladder and bowel dysfunction. In these cases, surgical treatment is also often used.
Myelomeningocele: the most severe, common form and associated with the idea of spina bifida. The spinal canal is not closed, and the bulging mass consists of the meninges, pathologically altered spinal cord and nerves. In addition, the skin in this area is also underdeveloped. In children with this form of spinal cord splitting, paresis below the defect and dysfunction of the pelvic organs are completely or partially observed. In addition, nerve damage and other pathologies are observed.

Symptoms

Symptoms of spina bifida vary widely, depending on the type and severity of the individual child. For example, at birth:

With hidden cleft (spina bifida occulta), there may be no obvious signs or symptoms—just a small spot, depression, or birthmark.
With meningocele, there will be a sac-like protrusion that will be located on the back in the spinal area.
With myelomeningocele there will also be a protrusion, but with changed skin, there will be a release of nerves and the spinal cord.

In severe spina bifida, when localized in the lumbar spine, the following symptoms may occur: paralysis of the lower extremities, dysfunction of the bladder, and intestines. In addition, such patients, as a rule, may have other developmental anomalies:

Hydrocephalus occurs in 75 percent of myelomeningocele cases and this condition requires surgical endoscopic treatment in order to restore normal flow of cerebrospinal fluid or a shunt to drain excess fluid from the brain.
Chiari malformation (displacement of the brain into the upper cervical vertebra) can cause pressure on the brain stem, which can manifest as speech, swallowing, and motor problems in the extremities.
Underdevelopment of the spinal cord Orthopedic problems including scoliosis, kyphosis, hip dysplasia (congenital dislocation), combined deformities, clubfoot, etc.
Precocious sexual development (especially in girls with spina bifida and hydrocephalus).
depression and other neurotic conditions
obesity
dermatological problems
developmental anomalies of the urinary tract.
heart disease
vision problems

Cervical disorders

With pathology of the vertebrae of the neck the following are observed:

migraine;
neck tilt deformity.

After a certain period of time, improper formation of the neck can lead to the appearance of a hump, which significantly reduces the patient’s ability to work. Such changes cause neurological disruptions.

With the development of pathology in the neck area, complications may arise

Specialists have other ways to determine an accurate diagnosis. However, those listed above are sufficient to control the condition of the newborn.

Diagnostics

Diagnostic tests may be performed during pregnancy to evaluate the fetus for the presence of spina bifida. These include:

Amniocentesis: A procedure in which a long, thin needle is inserted through the mother's abdomen and into the amniotic sac to remove a small amount of amniotic fluid for examination. The fluid is analyzed to determine the presence or absence of an open neural tube defect. Although the analysis is very reliable, it does not diagnose small or closed defects.
Prenatal ultrasound: this technique, being absolutely harmless, allows you to non-invasively assess the condition and visualize the internal organs, vessels, and tissues of the fetus. Sometimes it is possible to diagnose not only spina bifida, but also other anomalies.
Blood tests: Blood tests are recommended between 15 and 20 weeks of pregnancy for all women who have not previously had a child with an open neural tube defect and who do not have a family history of the condition. A blood test for alpha-fetoprotein and other biochemical indicators can determine how high the risk of developing spinal abnormalities is.
At birth, severe cases of spina bifida are evident by the presence of a fluid-filled sac bulging on the newborn's back. Visual indicators of mild forms (spina bifida occulta) may include a hairy patch of skin or a depression along the spine. Unusual weakness or lack of coordination in the lower extremities also suggests spina bifida. In children and adults, this anomaly is often diagnosed during routine examinations or, if necessary, to differentiate neurological symptoms using instrumental research methods (MRI, radiography).

How to stop abnormalities in the fetus?

To prevent the formation of dysplasia in a newborn child, his parents must follow the right lifestyle. At the time of bearing a child, it is worth preventing possible cases of injury. Do not forget about the prevention of viral diseases.

A woman who is about to give birth should see her doctor promptly if:

her age is over 35 years;
she is married to a close relative;
There have been cases of carrying a child with disabilities.

Despite the fact that dysplasia is a very serious disease, often resulting in death, it certainly can and should be combated if the problem is identified in a timely manner.

During pregnancy, a woman should carefully monitor her health and undergo regular examinations.

Young people who want to have children in the future must carefully and seriously approach the issue of health. Do not neglect medical instructions.

Causes

During pregnancy, the human brain and spinal column begin to form as a flat sheet of cells that folds into a tube called the neural tube. If all or part of the neural tube fails to close, the open area is called an open neural tube defect. A patent neural tube is open in 80 percent of cases, and is covered by bone or skin in 20 percent of cases. The cause of spina bifida (spina bifida and other defects) remains unknown but is most likely due to a combination of genetic, nutritional, and environmental factors, such as:

Deficiency of folic acid (vitamin B) in the mother's diet during pregnancy (taking enough folic acid during pregnancy may reduce the risk of developing this abnormality).
uncontrolled maternal diabetes
Some medications (antibiotics, anticonvulsants).
The genetic factor usually plays a role in only 10 percent of cases.
Mother's age
What kind of births are there (firstborns are more at risk).
Socioeconomic status (children born into lower socioeconomic families are at higher risk).
ethnic origin
obesity or excessive alcohol consumption in a pregnant woman
When a pregnant woman is exposed to hyperthermia in the early stages (sauna, jacuzzi).

Disease in adults

In the adult population, dysplasia is not diagnosed so often, and its detection is associated exclusively with birth defects. If dysplasia was not detected at an early age, then gradual disturbances in the lumbocartilaginous structure of the pelvic joints occur throughout life. Such a problem, identified in childhood, can subsequently negatively affect the development of other areas of the spine, as well as even the elbow joint. Disease of the left pelvic region is most often diagnosed in men. The development of the problem begins as a result of presentation during intrauterine development.

This diagnosis has unfavorable heredity, which is important to understand at the time of birth of children. Wide and tight swaddling should occur as a preventive measure for subsequent generations. Activity, the absence of bad habits, a balanced diet, and massage will be especially necessary for female representatives who were overtaken by this disease in childhood while carrying a baby.

It is almost impossible to get rid of spinal dysplasia in adults, since the skeleton is completely formed

If dysplasia was not detected in females, do not forget that it develops in more cases in boys. It is during pregnancy and especially after birth that it is worth paying attention to the lumbosacral spine, the joints of the knees, pelvis and elbows.

When pelvic joint dysplasia is detected in an adult, according to medical terminology, such a case is interpreted as untreated childhood dysplasia.

Therapy for existing joint disorders in an adult is quite difficult and in most cases does not lead to any results. This disease can be cured in childhood or adolescence, when the growth period has not yet stopped.

Treatment

Spina bifida can be treated immediately after birth. If this defect is diagnosed prenatally, a cesarean section is recommended in order to reduce possible damage to the spinal cord during the passage of the fetus through the birth canal. For newborns with meningocele or myelomeningocele, surgical treatment is recommended within 24 hours of birth. With this operation, the bone defect is closed and the function of the undamaged part of the spinal cord is preserved. Unfortunately, surgical treatment cannot restore the function of damaged nerves as they are irreversible.

Currently, there are clinics that perform prenatal surgeries to close the defect, but the techniques have not yet found widespread use. The main goal of treatment, both in mild forms and in the postoperative period, is to preserve the functions of both the musculoskeletal system and the functions of the bladder and intestines. If necessary, orthoses, therapeutic exercises, and physiotherapy are used.

In cases where spina bifida is discovered by chance during an X-ray (MRI, CT) examination, it is necessary to take measures to reduce the risk of spinal cord damage in the area of the spine where this defect exists.

Surgical treatment in adults is used only in the presence of complications. Basically, treatment in adults is aimed only at preventing possible complications (physical therapy, physiotherapy, wearing a corset).

Classification

Spinal dysplasia is classified into several types. The division is carried out taking into account the stage of bone tissue formation during which the disease developed. Among all types, pathology can be distinguished:

bone;
fibrous;
cartilaginous.

Fibrous dysplasia also has its own varieties:

monolocal;
monossal;
dysostosis;
polyostotic.

Important! Monolocal and monossal dysplasia leads to deformation of one vertebra. At the same time, focal and diffuse systemic changes are observed. Noticeable disturbances occur after nearby vertebrae are included in the process.

During polyssal dysplasia, the processes of adjacent ridge units are included in the degeneration process. In most cases, the disease is found in the lumbosacral region. It is possible to identify disturbances in the structure of the ischium and ilium. The disease may be accompanied by damage to the knees, elbows, shoulder blades, legs and head. For a long time, dysplasia does not manifest itself, being in a latent form. With a curved spine, the patient's condition is asymmetrical.

There are several types of spinal dysplasia

Degrees of dysplasia

For every three women with mild dysplasia of the cervical mucosa, there is one patient with moderate and severe dysplasia. In nine out of ten women, the site of pathological changes in the mucous membrane is located at the transition of the squamous epithelium to the glandular epithelium, which is normally located at the beginning of the cervical canal, but due to childbirth and abortion it can move deeper into the canal closer to the uterine cavity.

Dysplasia is characterized by the appearance of irregular cells - atypical, but the intercellular structures do not suffer at all. Cells change their shape, their nuclei also change size, shape and color. The nuclei are larger, uneven with a thick outer shell, the intracellular fluid becomes lighter and increases in volume. Instead of absolutely identical epithelial cells, a complete cellular re-sorting appears, intensively dividing into the same defective specimens. The probability of developing cancer in this group of different-sized cells reaches 50%, although this will take many years.

The degrees of dysplasia or, according to the modern classification, emphasizing the possibility of progression to a malignant process, cervical intraepithelial neoplasia or CIN are graded as follows:

Mild cervical dysplasia or CIN I - pathology is located in one third of the epithelial layer. Studies have shown that in two thirds of women, within three years from the moment of infection with human papillomavirus types 16 and 18 (HPV), the process will spontaneously resolve due to the natural death of the cell affected by the virus, which the virus does not have time to leave and is exfoliated along with its cellular “house”. In three out of ten infected women, HPV will continue to live, and in one it will develop into moderate dysplasia; however, mild dysplasia is not considered precancer.
Moderate degree of cervical dysplasia or CIN II - the lesion covers more than half the thickness of the epithelium - up to two thirds. In three out of a hundred, such dysplasia progresses to severe over time.
In severe cervical dysplasia or CIN III, only the surface of the epithelium remains free of atypical cells; visually, even in an electron microscope, this pathological condition is very similar to cancer in situ. It is assumed that every seventh woman diagnosed with CIN III already has malignant cells, however, in every third patient, severe dysplasia can become moderate or mild and even disappear. The problem is one thing - it is impossible to say who will have cervical cancer in the future and who will not get it.

The risk of cancer is real in a woman with long-standing cervical neoplasia, so even mild dysplasia that has not disappeared after 36 months of observation is operated on. By the way, HPV infection does not necessarily promise dysplasia; in every fourth infected woman, the virus does not penetrate the cells - it “sweeps” past to the exit of the genital tract.

Massage and prevention

Treatment of the disease at an early age ends positively. In some cases, there is no need to wear stirrups - just massage is enough. But since the treatment is complex, massage is prescribed with the intake of vitamins and medications, supported by physiotherapeutic measures.

The massage does not involve anything complicated in its execution - you just have to watch how a professional does it, so that later you can carry it out yourself to prevent the disease. With the help of massage, spinal dysplasia can be completely cured.