Klippel - Feil syndrome: photo, treatment, what consequences can there be? Syndrome Sprengel-Feil-Klippel: exercises in the pool
Two French neurologists Andre Feil and Maurice Klippel in 1912 described in detail the congenital deformation of the cervicothoracic spine in children. All of them were born in the parents of one blood relationship. In the Middle Ages, even relatives could become legal spouses. Therefore, the prevalence of this anomaly was not surprising. Later the pathology was called by the names of scientists. Klippel - Feil syndrome is not a disease in full. This is a congenital ailment, which often leads to the occurrence of other pathologies of the spine.
Features of the disease
Clippel-Feil syndrome refers to the congenital pathology of the cervical region, consisting of a synostosis and a reduction in the number of vertebrae. It is characterized by a high frequency of manifestation - one case per 120,000 newborns. The most typical sign of the disease is a pronounced decrease in the length of the neck. In most cases, it is accompanied by other anomalies of the musculoskeletal system and congenital pathologies of internal organs. In the diagnosis of the disease, several narrow specialists participate at once: the neurologist, orthopedist, geneticist, etc. Conservative treatment includes exercise therapy, physiotherapy and massage. In especially serious cases, surgical intervention is required - cervicalisation.
The main causes of the development of the
anomaly Klippel-Feil syndrome refers to genetically determined diseases. Pathological changes in the body begin to occur in the first weeks from the moment of conception. Among the main causes of the syndrome, doctors note a disruption in the development and segmentation of the spine, especially at the upper cheek level. Formed synostosis of the thoracic and cervical vertebrae, a decrease in their number, nonunion of the bodies and arches allow us to determine the clinical picture of the disease. The risk group includes children with an unhealthy heredity, where it is observed:
- Genetic defect in chromosomes. A diseased child has a disruption in the formation of the differentiation of growth necessary for the full development of the skeleton. This inevitably affects the development of the vertebrae of the thoracic and cervical divisions.
- An autosomal dominant type of inheritance. If one of the parents has a disease, the probability of a child with pathologies is 50-100%.
- An autosomal recessive type of inheritance. In this case, the probability of a child with pathologies is 0-50%.
To avoid a dysfunctional legacy, parents should consult a geneticist at the planning stage of the child.
Typical signs of the syndrome
This disease is characterized by a classic triad of symptoms: an excessively short neck, changing the border of hair growth, limiting the mobility of the head. The ailment is usually combined with other pathologies. In 30% of patients, scoliosis is detected, rigid form of torticollis, high spine position - Sprengel's disease. In a number of cases, abnormalities of the upper limbs, deformation of the feet, teeth, facial asymmetry, hyperopia are noted. In 25% of patients, congenital deafness is diagnosed.
The Klippel-Feil-Sprengel syndrome is not only a pronounced cosmetic defect. It may also include neurological symptoms. Changes from the central nervous system are manifested by oligophrenia, hydrocephalus, epilepsy. From an early age, patients develop muscular weakness in their limbs, as well as synkinesia. In the older age, the overall clinical picture is complemented by secondary changes in the spinal column.
Verification of the disease is possible on the basis of the observed triad of symptoms, physical examination data and instrumental studies. A special role in diagnosis is given to the study of a family history of the patient. To establish the Klippel-Feil syndrome with a detailed description of the accompanying anomalies is possible as a result of well-coordinated work of narrow specialists. As a rule, these are neurologists, geneticists, orthopedists, cardiologists and pulmonologists.
Radiography is used to assess the nature of the changes in the vertebrae. The study is carried out in two projections, of which the most informative is usually lateral. Because of the uncharacteristic position of the head, the shadows of the skull are combined with the image of the vertebral column, making it difficult to identify the details. In addition, it is recommended to take pictures in the position of maximum flexion / extension of the neck. This allows us to determine the possible instability of the uncombined vertebrae and to verify the Klippel-Feil syndrome. X-ray of the cervical thoracic spine helps identify:
- deformed vertebrae;
- reduction of their number;
- fusion of vertebral bodies;
- abnormal standing of the blades;
- curvature of the spinal column.
After confirming the diagnosis, patients are additionally assigned ultrasound of internal organs to detect abnormalities in their structure. In the presence of neurological pathologies, USG of vessels, angiography, EEG and MRI of the cervical region may be required. Obligatory consultation is with a geneticist. Based on its results, the specialist will be able to determine the type of inheritance and assess the risks for future generations.
The main forms of the disease
The syndrome of Klippel-Feil is a very rare pathology. According to statistics, typical symptoms are diagnosed in one child of 120 thousand. Anomaly manifests in a patient in one of three forms:
- Decrease in the number of segments in the cervical region, which gradually fuse and visually shorten the neck. This form of pathology causes difficulties in the movement of the head.
- Synostosis of the cervical region on the background of fusion with the occipital bone. The patient can not turn his head without experiencing pain. Cervical vertebrae and occiput are a single whole.
- The third form of the disease includes the manifestations of the first two.
A specific variant of the syndrome can be determined only by the doctor based on the results of the examination.
Basic principles of treatment
Unfortunately, modern medicine can not offer adequate methods how to completely eliminate the Klippel-Feil syndrome. Treatment implies prevention of the development of secondary deformities. The basis is taken by conservative methods, which include exercise therapy and massage. Medication is prescribed if the pathological process is accompanied by painful discomfort and compression of the nerve roots. Typically, analgesics, anti-inflammatory and nonsteroidal drugs are used. Long-term compression of the nerve roots requires surgical intervention. The main goal of the operation is to eliminate the pain syndrome, partially to correct external defects.
LFK and exercises in the pool
Conservative treatment of the syndrome includes a course of exercise therapy, therapeutic massage of the cervical and the so-called collar zone. Exercises are selected individually, based on the clinical picture of the patient. The first time they should be carried out under the supervision of a specialist, then you can go to home classes. Patients with a diagnosis of "Sprengel-Feil-Klippel Syndrome" exercises in the pool help to avoid a complicated course of the disease. As a rule, in small patients, doctors recommend swimming on the back. More complex exercises are also selected individually. There are no universal recommendations on the issue of swimming gymnastics.
A persistent pain syndrome caused by compression of the nerve roots is the main indication for the operation. In patients diagnosed with the "Klippel-Feil syndrome", the prognosis deteriorates with age. Therefore, the operation is appointed immediately after confirmation of the pathology. To increase the mobility of the neck, cervicalisation is used according to Bonol. During the procedure, the doctor removes the four upper ribs and the periosteum to reduce pressure on the internal organs. The operation is carried out in several stages. Initially, the ribs are removed on one side, and after the restoration of the organism - on the other.
The rehabilitation period requires a lot of time and effort. For several months the patient should be immobile. However, you should not abandon the operation. Currently, this is the only effective way to correct external defects, the occurrence of which provokes the Klippel-Feil syndrome. What consequences can be for health, if you refuse treatment, is described below.
Complications and prognosis for the patient
After the surgical intervention and rehabilitation period, the patient can lead a full life. The neck during this time will slightly increase in length, which, from an aesthetic point of view, is considered a favorable aspect. If the patient ignores the doctor's recommendations for recovery, the body begins to "respond" to complications. First of all, pathologies of internal organs develop, severe pain in the neck area. The latter are due to the constant infringement of the nerve roots and can lead to complete immobility of the limbs. The defeat of internal organs is dangerously irreversible pathological processes and can cause early death.
Is it possible to prevent the Klippel-Feil syndrome? Photos of patients with this diagnosis make you think about this issue. Specific prevention of this disease does not exist, since it is hereditary. In families where such anomalies have already been documented, a genetic consultation is needed. Its essence is reduced to the examination of a couple preparing for the role of parents, to assess the risk of development of pathology.
Klippel-Feil syndrome is a congenital anomaly of the upper spine. It is characterized by a triad of external signs and a number of radiographic features. The disease has a positive vital prognosis, but it is completely impossible to cure it. Timely surgical intervention allows only to correct existing external defects. If close relatives have previously confirmed such a diagnosis, it is advisable to undergo a complete genetic examination before conception of the child. Be healthy!