Types of congenital anomalies and malformations of the spine in children

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.

Types of congenital spinal anomalies

All spinal anomalies formed in utero are divided into two large groups - ontogenetic and phylogenetic origin.

There is also a third group of mixed defects of ontophylogenetic origin.

1. Types of congenital vertebral deformities associated with ontogeny disorders

These types of vertebral anomalies are the cause of severe forms of congenital scoliosis.

Defects associated with underdevelopment, decrease or increase in the number of vertebrae:
Microspondylia.
Asymmetrical vertebra.
Flattened vertebra.
Additional wedge-shaped vertebrae and hemivertebrae.
Posterior wedge-shaped vertebrae.
Fusion (partial or complete) of two or more adjacent vertebrae in any part.
Short neck syndrome is a fusion and abnormal development of the cervical and sometimes also thoracic vertebrae (due to a genetically determined pathology that is inherited. Another name for the pathology is Klippel-Feil syndrome).
Butterfly-shaped vertebrae.
Spina bifida.
Developmental anomalies or absence of part of the arch, spinous processes, spondylolysis, spondylolisthesis. Nonfusion of the arches and vertebral bodies.

2. Types of congenital spinal anomalies associated with phylogenesis disorders

Partial or complete lumbarization (the first sacral vertebra is separated from the sacrum), sacralization (the fifth lumbar vertebra is fused to the sacrum), occipitalization (fusion of the first cervical vertebra and the occipital bone).
Transitional seventh cervical or first thoracic vertebrae, which are characterized, respectively, by an increase or decrease in the number of ribs - accessory cervical ribs syndrome).
Any other types of increase or decrease in the number of vertebrae.

3. Congenital spinal defects of combined origin (ontophylogenetic)

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).

Causes of congenital spinal abnormalities

The etiology of congenital pathologies of the spine is not fully understood, and in many cases the exact cause of the pathology at birth cannot be established.

But it has been established that most often deformities and diseases of the spine occur when:

Genetic hereditary prerequisites, various gene mutations.
Disorders of intrauterine development of the fetus for various – exogenous or endogenous – reasons.
Dietary disorders of the expectant mother, lack of vitamins and microelements, as well as metabolic disorders of the pregnant woman’s body.
Hormonal disorders in the body of the expectant mother.
Severe toxicosis, nephropathy, gestosis in pregnant women.

We recommend you:

Manual therapy. This method is most effective when used correctly. Take a look at the graph - it shows the percentage of patients with various spinal anomalies who noted a significant improvement in their well-being after 5-6 manual therapy procedures.
Therapeutic exercise. Exercises are selected individually: taking into account the fact that the treatment of anomalies is always long-term, a scheme will be developed for you, which you can adhere to even after the end of treatment in the clinic.
Massotherapy. To achieve a lasting effect, at least 10 procedures are needed. Remember that unprofessional massage (especially with vertebral instability) can only aggravate the disease. Therapeutic massage should be performed by a qualified specialist.
Reflexology as a means of relief.
Physiotherapeutic procedures: muscle stimulation, vacuum therapy, electrophonophoresis.
Fixation of the spinal column using Shants collars and corsets is a necessary component in the treatment of most spinal anomalies.

We do not carry out any procedures without an initial consultation with a specialist who will evaluate the indications and contraindications and select the desired type and frequency of sessions.

The article was reviewed by Doctor of Medical Sciences, Professor Grigory Isaakovich Shvartsman, Northwestern Medical University. I.I. Mechnikov.

Diagnosis of congenital anomalies of the spine - can they be identified by symptoms?

Performs diagnostics and makes a diagnosis by a pediatric surgeon or orthopedist.

Diagnostic methods used today:

X-ray – allows you to determine additional vertebrae or hemivertebrae, irregularities in the shape of the vertebrae, displacement relative to each other, etc.
Computed tomography (CT) - allows you to more clearly identify bone disorders of the spinal column.
Magnetic resonance imaging (MRI) – successfully detects disorders of the spinal cord and its structures, as well as the ligamentous apparatus.

In addition, to identify pathologies in the development of the fetal neural tube, prenatal diagnosis is necessary:

Laboratory tests of a pregnant woman's blood , as well as amniotic fluid, to determine acetylcholinesterase and α-fetoprotein levels.
Ultrasound screening of a pregnant woman.

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).

Split vertebra (spina bifida)

The most common developmental defect that has the greatest practical significance is spina bifida. In the vast majority of observations, clefting consists of non-healing of the vertebral arches. It is extremely rare to observe splitting of the vertebral body itself. Most often, nonfusion of the arches is observed either in the LV lumbar or in the SI sacral vertebra. In other parts of the spine, cleft arches are observed less frequently.

A distinction is made between closed and open vertebral bifida . Closed spinal bifida (spina bifida oculta) is more common. In most cases, closed spina bifida oculta is not accompanied by any neurological disorders. The only exception is bedwetting.

With closed spinal bifida (spina bifida oculta), there may also be mild pain in the lumbosacral region. The resulting scar changes in the area of the roots cause neurogenic disorders: paresis of the legs with loss of tendon reflexes, radicular sensitivity disorders, trophic and vasomotor symptoms (ulcers, swelling, local hypertrichosis, skin changes).

Open spina bifida is much less common (one child per 1000–1500 births) and is a more severe degree of spinal developmental defect. Typically, open vertebral fissures are combined with dysplasia of the spinal cord, membranes and roots. Through the existing splitting of the vertebrae, the substance of the spinal cord and membranes protrude.

Consequences

The disease can develop many side pathologies.

These include:

impairment or complete loss of movement of individual limbs;
fusion of vertebrae of different parts;
osteochondrosis;
violation of the development of the shoulder girdle, in which one shoulder blade stands higher than the other by about 10 centimeters;
constant, incessant headaches, against the background of the fused first and second, or sixth and seventh vertebrae;
diseases of the heart muscle;
dysfunction of the digestive system, disruptions in the functioning of the respiratory organs;
change in the appearance of the feet;
hypoplasia;
rachiocampsis.

All these pathologies can be either congenital or acquired, but they all must be corrected equally, depending on the complexity of the patient’s situation.

Accessory cervical rib syndrome

Accessory cervical rib syndrome can clinically manifest itself under the influence of unfavorable factors (coldness, trauma, infection). In many cases, additional cervical ribs do not indicate anything about themselves and turn out to be an accidental discovery. Clinical manifestations of accessory cervical ribs are characterized by the presence of neuralgic pain in the shoulder, which sometimes spreads to the entire limb.

Usually there are vasomotor and trophic disorders (pale, cyanotic, cold skin, sweating, increased pilomotor reflex). Sometimes muscle weakness and atrophy occur. The presence of autonomic disorders, as well as in some cases the sympathetic nature of the pain, indicate traumatization of the cervical sympathetic fibers by the accessory ribs.

Incurable pathologies of the cervical spine

In recent years, various medical massage techniques have generally significantly improved the prognosis of many not only acquired but also congenital spinal pathologies.

Unfortunately, there are also vertebral malformations that occur in the prenatal period under unfavorable conditions (smoking and/or maternal infections during pregnancy, etc.).

Today, these pathologies are considered incurable (in rare cases of early detection, surgical treatment is possible). They should be constantly monitored, monitoring and promptly stopping threatening symptoms.

The most important symptoms: headaches, dizziness, loss of consciousness and nausea.

Serious assistance with pathologies of the cranio-vertebral zone will be provided by a competent specialist who has the skills and experience of special medical massage techniques. Massage in this case is preferable to other types of therapy (it is safe and effective). In case of surgery, medical massage is also recommended for the patient to speed up recovery in the postoperative period.

In addition, it is important to constantly be monitored by a neurologist or vertebrologist and independently maintain the tone of the muscular-ligamentous apparatus of the neck with the help of therapeutic exercises. This will significantly reduce the risk of an anomaly.

To diagnose abnormalities of the cervical spine, the following methods are used:

X-ray in lateral and anterior projections;
Functional radiography (anterior-posterior, lateral images at the maximum angle of inclination of the head);
Electroencephalography (EEG);
Ultrasound of the brain;
MRI;
Doppler ultrasound of head and neck vessels;
Rheoencephalography (REG).

Among vertebral defects in general, anomalies of the cervical spine in particular occupy first place in number. They are found on average in 8-9% of subjects. These pathologies occur predominantly in the area of the cranio-vertebral joint C0-C1. The most common:

Cervical ribs
Hyperplasia of the lateral processes of the vertebrae. It is more common in women; in 2/3 of cases the anomaly is symmetrical.
Sometimes the processes of the cervical vertebrae are rudimentarily elongated (more often found in the seventh cervical vertebra). There are 4 degrees of such hyperplasia, the last 4th degree is characterized by rigid fusion with the first true rib.
If the first degrees of pathology rarely provoke the development of symptoms, then the last degree is distinguished by a change in the location of the muscles and blood vessels of the neck, which can lead to neurological manifestations in the form of aching pain, numbness, muscle weakness, especially when tilting the neck towards the elongated process, impaired finger movements . Also, in the last stages of pathology, compression of the subclavian artery is possible, which is noticeable by such symptoms as uneven pulse of the radial artery, increased sweating, cold skin, swelling of the extremities, etc.
Correction of the anomaly is carried out to relieve pain and compression of the subclavian artery. Surgery to cut off the cervical rib is possible.
To relieve current symptoms, we recommend connective tissue massage of the neck and head, massage with post-isometric relaxation of the muscles of the head and neck.
Kimmerle anomaly
Kimmerle's anomaly (named after the Hungarian doctor who first described the pathology) manifests itself in the form of a bone “bridge” that has grown on the atlas directly above the groove of the vertebral artery. According to statistics, Kimmerle anomaly occurs in 12–15.5% of the population. Moreover, it is rare in itself, but is combined with other defects of the craniovertebral region.
The danger of this defect lies in the movement of the head. The most common bends and turns of the head can provoke the development of vertebral artery syndrome, impaired blood supply to the brain and ischemic stroke.
Among the symptoms of circulatory disorders, the most obvious are: dizziness, pain in the head, tinnitus, darkness in the eyes, blood pressure jumps, severe weakness, nausea, loss of consciousness. Later, trembling of the limbs and eyes is added.
At the same time, many inaccuracies are allowed in the diagnosis of Kimmerle anomaly. Often the main symptom is a recurring headache when turning the head; in the initial stages of the pathology, patients, as well as doctors, do not consider it a serious disease. Therefore, patients are observed for a long time with various diagnoses by different specialists (this includes migraine, cephalalgia, tension headache, vegetative-vascular dystonia, etc.), are examined and receive a variety of treatments, leading nowhere.
AK is incurable because located directly in the body of the very first vertebra. The main thing is to detect it in time and keep it under control, relieving painful spasms with connective tissue massage and massage using the post-isometric relaxation technique. It is recommended to sleep on an orthopedic pillow.
Saddle hyperplasia of the atlas
The anomaly is characterized by the growth of the lateral masses of the atlas above the tooth of the axial (second) vertebra. The upper platform of the atlas is bent in the form of a saddle.
The pathology is accompanied by symptoms: tension in the back of the head, occipital and neck pain, and often deforming arthrosis of the atlanto-axial joint. Vertebral artery syndrome occurs.
It is impossible to replace the atlas or change its shape; it is possible and necessary to relieve dangerous symptoms only during exacerbation. The following types of medical massage are indicated: connective tissue massage, massage with PRR, PIR, PITR. And also exercise therapy.
Assimilation of Atlanta
The pathology is a fusion of the atlas with the occipital bone (partial or complete). It is observed in 0.4 – 2.16% of patients.
It threatens to narrow the foramen magnum and compress the medulla oblongata. To compensate for the immobility of the atlas, hypermobility may develop in the lower vertebrae of the cervical spine.
All patients with this defect have the following differences in head posture: torticollis, short neck, incorrect head position, limitation of head movements.
Symptoms of the anomaly: attacks of headaches, nausea, vomiting, increased intracranial pressure, tachycardia, sweating. Sensory disturbances occur in the lower neck. If the medulla oblongata is compressed, the symptoms depend on the degree of compression of the nerves.
Physiotherapy, reflexology, exercise therapy, and some types of medical massage are indicated to relieve symptoms. To fix the lower section, a Shants collar is prescribed. In life-threatening situations, surgery is performed to widen the foramen magnum or remove a fragment of a vertebra.
Concrescence of the cervical vertebrae
The term refers to the congenital fusion of a pair or several vertebrae. For the cervical spine, this pathology is called Klippel-Feil syndrome. Its frequency is not high, ranging from 0.2 to 0.8% of the population.
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The vertebrae can fuse partially (spinous processes and arches), or completely (both the vertebral body and the arches). The most common is congenital fusion of C2 with C3.
Symptoms of the anomaly: severe but not prolonged headaches, possible brief loss of consciousness and respiratory arrest, speech impairment, cerebellar disorders, impaired sensitivity in the hands. In general, the patient shows signs of spinal cord damage.
To relieve current symptoms, we recommend connective tissue massage, massage with post-isometric relaxation.
Aplasia of the posterior arch of the atlas
This absence (complete or partial) of the posterior vertebral arch is observed in approximately 5–10% of patients.
Symptoms are observed in children and adolescents. Symptoms are increasing, because... compression of the medulla oblongata and spinal cord occurs. Patients complain of very severe headaches. On examination, an excessive forward tilt of the head is noticed.
Corrective measures are symptomatic. To relieve current symptoms, we recommend connective tissue massage, massage with PRR, PIRM, PITR.

The first three are more common than others.

As a rule, such anomalies are discovered by chance, during a routine examination for neck pain, mistaken for osteochondrosis. But in some cases, these developmental defects are accompanied by special symptoms and quite severe disturbances of brain activity. In this case, the patient’s condition may also be aggravated by the birth displacement of the first vertebra, but its correction is often contraindicated or undesirable.

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Fibrous spinal disc dysplasia in adults

Spinal dysplasia in adults is almost always a complication of long-term degenerative dystrophic processes. The spinal column consists of vertebral bodies and intervertebral discs. The latter do not have their own circulatory network and can receive fluid, oxygen and nutrition only through diffuse exchange with the surrounding muscles and endplates. If this process is disrupted, then gradual degeneration of the intervertebral disc occurs until complete destruction.

Spinal dysplasia in adults is a severe form of dorsopathy; with severe damage to the radicular nerves, disability with paralysis of the upper and lower extremities is possible.

If spinal disc dysplasia is not treated, it gradually progresses and the spinal column loses its physiological mobility and shock-absorbing ability. Fibrous dysplasia of the spine is one of the most severe and dangerous forms in which paralysis can occur. A person loses the ability to move independently and self-care.

Contraindications

no absolute contraindications to internal fixation of the cervical spine a titanium reconstructive plate. Relative ones include:

topographic location in which the lower jaw or sternum are obstacles to spinal osteosynthesis .
Recent radiation therapy to the operated area.
Severe general condition of the patient.
Severe osteoporosis.
Generalized infections in the acute stage.

Indications for cervical plate placement

The range of indications for plate osteosynthesis in the spine is wide and covers a large number of pathologies.

Presence of deformities (scoliosis, lordosis, kyphosis).
Degenerative-destructive processes in intervertebral discs.
Fractures in the cervical spine.
Oncological diseases of the cervical spine.
Formation of a false joint.
The presence of mobility or instability of the intervertebral space after the removal of one or two intervertebral discs.