Two French neurologists Andre Feil and Maurice Clippel in 1912 described in detail the congenital deformity of the cervicothoracic spine in children. All of them were born in the parents of one blood connection. In the Middle Ages, even relatives could become legal spouses. Therefore, the prevalence of this anomaly was not surprising. Later, pathology was named after scientists. Klippel - Feil syndrome is not a disease in its entirety. This is a congenital ailment that often leads to other pathologies of the spine.
Features of the disease
Klippel-Feil syndrome refers to congenital pathology of the cervical spine, which consists in synostosis and a decrease in the number of vertebrae. It is characterized by a high frequency of manifestation - one case per 120 thousand 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 abnormalities of the musculoskeletal system and congenital pathologies of the internal organs. Several narrow specialists take part in the diagnosis of the disease: a neurologist, orthopedist, geneticist, etc. Conservative treatment includes physical therapy, physiotherapy and massage. In especially serious cases, surgery is required - cervicalization surgery.
The main causes of the development of anomalies
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 violation of the development and segmentation of the spine, especially at the upper neck level. Formed synostoses of the thoracic and cervical vertebrae, a decrease in their number, non-union of bodies and arches allow us to determine the clinical picture of the disease. At risk are infants with dysfunctional heredity, where there is:
- Genetic defect in chromosomes. In a sick child, there is a violation of the formation of growth differentiation necessary for the full development of the skeleton. This inevitably affects the development of the vertebrae of the thoracic and cervical regions.
- Autosomal dominant type of inheritance. If one of the parents has a disease, the probability of having a baby with pathologies is 50-100%.
- Autosomal recessive inheritance type. In this case, the probability of having a baby with pathologies is 0-50%.
To avoid a dysfunctional heritage, parents should consult with a geneticist at the child's planning stage.
Typical symptoms of the syndrome
This disease is characterized by a classic triad of symptoms: an excessively short neck, a change in the border of hair growth, and limited mobility of the head. The disease is usually combined with other pathologies. In 30% of patients, scoliosis, a rigid form of torticollis, and high standing of the scapula - Sprengel disease are detected. In a number of cases, abnormalities of the upper extremities, deformation of the feet, teeth, asymmetry of the face, and hyperopia are noted. In 25% of patients, congenital deafness is diagnosed.
Klippel-Feil-Sprengel syndrome is not only a pronounced cosmetic defect. It may also include neurological symptoms. Changes in the central nervous system are manifested by oligophrenia, hydrocephalus, epilepsy. From an early age, patients develop muscle weakness in the limbs, as well as synkinesia. At an older age, the overall clinical picture is supplemented by secondary changes in the spinal column.
Medical examination
Verification of the disease is possible based on the observed triad of symptoms, physical examination data and instrumental studies. A special role in the diagnosis is given to the study of the patient's family history. It is possible to establish Klippel-Feil syndrome with a detailed description of concomitant anomalies as a result of the coordinated work of narrow specialists. As a rule, these are neurologists, genetics, orthopedists, cardiologists and pulmonologists.
To assess the nature of the change in the vertebrae, radiography is prescribed. The study is carried out in two projections, of which the most informative is usually the side. Due to the uncharacteristic position of the head, the shadows of the skull are combined with the image of the spinal column, thereby complicating the identification of details. Additionally, 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 non-united vertebrae and verify the Klippel-Feil syndrome. An x-ray of the cervicothoracic spine helps to identify:
- deformed vertebrae;
- decrease in their number;
- intergrowth of vertebral bodies;
- abnormal standing of the shoulder blades;
- curvature of the spinal column.
After confirming the diagnosis, patients are additionally prescribed an ultrasound of the internal organs to identify abnormalities in their structure. In the presence of neurological pathologies, ultrasound of the vessels, angiography, EEG and MRI of the cervical spine may be required. Mandatory is a consultation with a geneticist. Based on its results, a specialist will be able to determine the type of inheritance and assess the risks for future generations.
The main forms of the disease
Klippel-Feil Syndrome is a very rare pathology. According to statistics, characteristic symptoms are diagnosed in one child out of 120 thousand. An anomaly occurs in a patient in one of three forms:
- A decrease in the number of segments in the cervical region, which gradually grow together and visually shorten the neck. This form of pathology causes difficulty in moving the head.
- Synostosis of the cervical spine on the background of fusion with the occipital bone. The patient cannot turn his head without experiencing pain. The cervical vertebrae and the back of the head are a single entity.
- The third form of the disease includes manifestations of the first two.
A specific version of the syndrome can only be determined by a doctor based on the results of the examination.
The basic principles of treatment
Unfortunately, modern medicine cannot offer adequate methods for completely eliminating Klippel-Feil syndrome. Treatment involves the prevention of secondary deformities. The basis is taken by conservative methods, which include exercise therapy and massage. Drug treatment is prescribed if the pathological process is accompanied by pain discomfort and compression of the nerve roots. As a rule, analgesics, anti-inflammatory and non-steroidal 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 correct external defects.
Exercise therapy and exercises in the pool
Conservative treatment of the syndrome includes a course of exercise therapy, therapeutic massage of the cervical spine and the so-called collar zone. Exercises are selected individually, based on the clinical picture of the patient. At first, they should be carried out under the supervision of a specialist, then you can go to homework. Exercises in the pool help patients with a diagnosis of Sprengel – Feil – Klippel syndrome to avoid the complicated course of the disease. As a rule, doctors recommend swimming for back patients to small patients . More complex exercises are also selected individually. There are no universal recommendations on swimming gymnastics.
Surgery
Persistent pain caused by compression of the nerve roots is the main indication for surgery. In patients diagnosed with Klippel-Feil Syndrome, the prognosis worsens with age. Therefore, the operation is prescribed immediately after confirmation of the pathology. Bonol cervicalization is used to increase neck mobility. During the procedure, the doctor removes the four upper ribs and 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 body, on the other.
The rehabilitation period requires a lot of time and effort. For several months, the patient should be stationary. However, you should not refuse the operation. Currently, this is the only effective way to correct external defects, the occurrence of which provokes Klippel-Feil syndrome. What health consequences can be if you refuse treatment, is described below.
Complications and prognosis for the patient
After surgery and the rehabilitation period, the patient can lead a full life. The neck will slightly increase in length during this time, 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” with complications. First of all, pathologies of internal organs develop, severe pain in the neck appears. The latter are due to the constant infringement of the nerve roots and can lead to complete immobilization of the limbs. Damage to internal organs is dangerous by irreversible pathological processes and can cause early death.
Preventive actions
Is it possible to prevent Klippel-Feil syndrome? Photos of patients with such a diagnosis make you think about this issue. There is no specific prevention of this disease, since it is hereditary. In families where cases of such an anomaly have already been recorded, a genetic consultation is necessary. Its essence boils down to examining a couple preparing for the role of parents to assess the risk of developing pathology.
To summarize
Klippel - Feil Syndrome is a congenital abnormality of the upper spine. It is characterized by a triad of external signs and a number of radiological features. The disease has a positive vital prognosis, but it is completely impossible to cure it. Timely surgical intervention can only correct existing external defects. If close relatives have previously confirmed such a diagnosis, it is advisable to undergo a full genetic examination before conceiving a child. Be healthy!