19Mar

Klippel-Feil syndrome( short neck syndrome) and its treatment

Contents:
  • Reasons
  • Clinical picture
  • Complications
  • Diagnosis
  • Therapeutic tactics

The disease refers to a rare pathology of the musculoskeletal system, found in one of the 120,000 newborns. The first manifestations of the syndrome are visualized immediately after birth, so the diagnosis is not difficult. Treatment of the disease is carried out in a conservative way. Radical methods of therapy are used in case of development of complications, which are accompanied by infringement of spinal cord roots and the appearance of persistent pain syndrome.

Causes of

Sprengel
Unusually high left shoulder arrangement - Sprengel's disease

Short neck syndrome refers to a genetic disease that is inherited and often found in members of the same family. Therefore, in order to prevent the development of the disease, it is necessary to take genetic laboratory tests to the spouses before planning the conception of the child, if close or distant relatives had such a pathology.

The disease can be transmitted autosomal dominant and autosomal recessive pathway from both the mother and the father. In the first case, the probability of the syndrome in a baby is 50-100%.In the second case, the risk of the disease is lower and is in the range of 0-50%.Mutation of genes in pathology develops in 5, 8 or 12 chromosomes.

The disease can be formed by the impact on the body of a woman during pregnancy teratogenic factors. They are chemicals that negatively affect the development of the fetus in the intrauterine period( adverse environmental conditions, medication, occupational hazards).Due to genetic and teratogenic reasons, the normal laying of the spine is broken, which leads to the pathological development of the cervical and thoracic spine. In addition, the influence of negative factors can cause an incorrect formation of internal organs, primarily the heart, kidneys and ureters.

Clinical picture

Clinical manifestations of the Klippel-Feil syndrome are noticeable soon after the birth of the child. The disease is characterized by a triad of basic symptoms:

  • short neck - it seems that the head lies on the shoulders;
  • limitation of the mobility of the head - rotation is most difficult in the first place( rotational movements);
  • is a characteristic border of hair growth on the head - the hair grows below the normal level, located in the neck area.

The triad of symptoms makes it possible to suspect a pathology in infancy and to conduct additional examination methods to confirm the diagnosis.

Klippel-Feil Syndrome
Neck curve and head movement limitation are the main symptoms of

syndrome. In 30% of cases, other clinical manifestations are revealed in children:

  • cervico-thoracic scoliosis( curvature of the spine);
  • pterygophora of the neck( skin folds along the lateral surface of the neck);
  • bony form of congenital torticollis( head turned to the side, weakness of the neck muscles);
  • high position of the shoulder blades( Sprengel's disease);
  • abnormalities of the upper limbs( underdevelopment of the ulna or thumb, increasing the number of fingers, syndactyly);
  • abnormalities of the lower extremities( deformation of the foot, curvature of the lower legs).

Visually available congenital anomalies with short neck syndrome are not life threatening and usually do not limit the physical or mental development of children. Much more dangerous are the developmental defects of internal organs, which are sometimes combined with congenital anomalies of the musculoskeletal system. The most common is the underdevelopment of the cardiovascular and urinary system.

From the side of the cardiovascular system:

  • non-healing of the botulinum duct( normally closes for 2 weeks of the child's life);
  • aortic dextrase( right-sided placement of the vessel);
  • defect of interventricular septum( leads to mixing of arterial and venous blood).

From the side of the urinary system is found:

  • aplasia and kidney hypoplasia( absence or underdevelopment of the organ);
  • hydronephrosis( accumulation of fluid in the kidney);
  • ectopic ureters( atypical location of ureteral orifice).

In severe cases, there are no organs - kidney, lung, ureter, which negatively affects the functioning of the whole organism. Rare symptoms of the disease include facial asymmetry, paralysis of facial muscles, cleft palate( "wolf mouth"), deafness, strabismus, reduced visual acuity.

Complications of

Scoliosis
In Clippel-Feil syndrome scoliosis is often formed

Due to the severe form of underdevelopment of the spine and the failure of the parents to regularly treat the child, complications from the nervous system develop. In the process of growth in the spine, degenerative-degenerative processes progress, which leads to deformation of the intervertebral discs. It causes infringement of spinal roots and promotes occurrence of intensive pains in the field of a neck and a back.

Compression of the nerve roots forms a disturbance of the sensory and motor area below the lesion. There are paresthesias in the hands and feet( a feeling of numbness and tingling), weakness of the muscles of the upper and lower extremities, lowering of temperature and pain sensations. Such pathological changes are characteristic of older children. In younger children, complications from the nervous system usually manifest themselves in the form of syncopeesis - involuntary movements of hands and hands.

Diagnosis

To confirm the diagnosis, an x-ray examination of the cervical and thoracic spine is prescribed. With the syndrome, the cervical and upper thoracic parts suffer, where they show changes typical for pathology. The study is carried out in a straight and a side view. Mandatory use of functional tests - make lateral shots with maximum bending and extension of the neck.

fusion of vertebrae
The x-ray shows the fusion of the cervical vertebrae

There are 3 main radiologic forms of the Klippel-Feil syndrome:

  1. fusion of the cervical vertebrae into a single conglomerate between itself and the occipital bone;
  2. absence of several cervical vertebrae( usually 4-6 vertebrae);
  3. reduction in the size of the cervical vertebrae, non-articulation of arches and vertebral bodies, the appearance of additional cervical ribs.
Recommended reading: Kifoscoliosis in a child What is thoracic kyphoscoliosis

Radiography of the spine confirms the diagnosis of the disease. Additionally, a neurological examination of the patient is performed, the tendon reflexes are checked, the mobility of the neck is evaluated. Assign ultrasound( ultrasound) of the heart and kidneys to identify anatomical or functional disorders, conduct electrocardiography( ECG).

The patient is referred for consultations of narrow specialists according to complaints of the patient or his parents - small children can not formulate their complaints themselves.

At the planning stage of pregnancy, future parents are recommended a genetic examination to identify the risk of having a sick baby, if the genus already had cases of such a disease.

Therapeutic tactic

For the therapy of short neck syndrome, conservative and surgical methods of therapy are used. Conservative treatment includes the appointment of physiotherapy, massage and exercise physiotherapy exercises to maintain the normal tone of the muscular backbone, improve blood flow and metabolism in the pathology site. In the event of pain, analgesics are prescribed from the group of analgesics( acophilus, sanidol, combispasm) or novocaine blockades.

Surgeons
To improve the quality of life, patients undergo a cosmetic operation - cervicalisation according to the Bonol method

Persistent pain syndrome, development of complications with nerve root compression, significant curvature of the spine requires surgical intervention. The most commonly prescribed cosmetic surgery, which is called cervicalisation by Bonol. It consists in restoring the normal arrangement of the thoracic and trapezius muscles in relation to the scapula. This reduces discomfort in the neck, lengthens it and increases the volume of head movements.

First the operation is done on one side of the neck, and after the recovery period, the operative intervention is carried out from the opposite side. In severe clinical cases, spine modeling using artificial implants is used. After the operation, the neck is immobilized by means of a plaster crib or a special bandage in the form of a collar.

Klippel-Feil syndrome is a rare disease that is a congenital malformation of development and is inherited. Patients with this pathology from the moment of birth require constant monitoring of the surgeon or traumatologist. Regular courses of conservative therapy or planned operations prevent the occurrence of complications and improve the prognosis of the disease.

Sick child