Klippel-Feil syndrome: signs, photo, treatment, prognosis
In 1912, two neurologists of French origin, Andre Feil and Maurice Klippel, described in detail the congenital deformity of the cervico-thoracic spine, which appeared in children. All patients with this disease were children of parents who have a blood relationship.
This is not surprising, because in the Middle Ages relatives could become legal spouses. A little later, this pathology was named in honor of scientists. In fact, Klippel-Feil syndrome is not a disease. It is a congenital pathology that can cause the development of other diseases of the spine.
Features of the syndrome
This syndrome is a congenital pathology of the cervical spine, which is to reduce the number of vertebrae and synostosis. It is characterized by quite frequent manifestations: it is observed in one newborn out of 120 thousand.The most typical symptom is a shortened neck. Most cases of the disease are accompanied by other pathologies that affect the musculoskeletal system and internal organs. Diagnosis of this disease lies in the competence of such narrow specialists as a neurologist, geneticist, orthopedist, and some others. Treatment of the conservative type may include massage, physiotherapy and exercise therapy. If the case is serious, then the need for surgical treatment, consisting in cervicalization, is not excluded.
A distinction must be made between genetic defects and the more common torticollis or false short neck syndrome in a newly born baby, which results from birth trauma. When a newborn is moved along the birth canal, the cervical vertebrae shrink, which forms the illusion that the neck is short. Such anomalies can be corrected; they usually disappear without a trace during the first year of life.
Causes of Klippel-Feil syndrome
This syndrome is included in the group of genetically determined diseases. Pathological changes begin to develop in the first weeks of the development of the fetus in the womb. Doctors note several main reasons as a result of which the syndrome manifests itself.These include impaired segmentation and development of the spinal column, mainly at the upper cervical level.
What helps in determining the clinical picture?
The clinical picture of the disease can be determined:
- Failure of arcs and bodies.
- Reducing the number of vertebrae.
- Synostoses of the cervical and thoracic vertebrae.
The risk group includes children who have unsuccessful heredity, characterized by:
- Genetic defects in chromosomes. The child is disturbed by the formation of growth differentiation, which is necessary for the skeleton to develop fully. This violation affects the development of the thoracic and cervical vertebrae.
- Autosomal dominant inheritance. This means the following: if one of the parents has the disease, then a sick child will be born with a probability of 50-100 percent.
- Autosomal recessive type of inheritance. In this case, the probability decreases and ranges from zero to fifty percent.
To avoid dysfunctional inheritance, parents should consult a geneticist before conceiving a child.
Signs of Klippel-Feil syndrome
This disease is characterized by the classic triad of symptoms:
- Changes the boundaries of hair growth.
- Observed too shortened neck.
- Head mobility is limited.
Most often this is combined with other diseases. About thirty percent of patients with Klippel-Feil syndrome suffer from scoliosis, rigid forms of torticollis, and high standing of the shoulder blades, called Sprengel disease. In some cases, anomalies of the hands, deformities of the feet and teeth are noted. There is asymmetry of the face and farsightedness. About twenty-five percent of patients suffer from congenital deafness.
This syndrome is not only a cosmetic defect with bright severity. In addition, under it lie serious neurological complications. They can be expressed in the development of oligophrenia, hydrocephalus, epilepsy. From early childhood, patients experience muscle weakness of the limbs, synkinesis. At the age of a slightly older, the clinical picture of the disease is complemented by the appearance of secondary changes in the spinal column.
If there are symptoms of Klippel-Feil syndrome, it is necessary to be examined.
The syndrome is verified on the basis of the present triad of symptoms, instrumental examination and physical examination. A special role in the diagnosis is assigned to the process of studying the family history of the patient. Klippel-Feil syndrome can be diagnosed and the associated anomalies can be described by the coordinated work of such narrow specialists as cardiologists, neurologists, orthopedists, genetics, pulmonologists.
To assess the nature of changes in the spine allows radiography. Such a study should be carried out in two projections, with the side projection being more informative. Due to the fact that the head is located uncharacteristically, the shadow of the skull can be combined with the image of the spine, which, in turn, does not allow to reveal the details. It is also recommended to take additional pictures that display maximum flexion and extension of the neck. They allow to detect the instability of ununited vertebrae. What else is included in the diagnosis of Klippel-Feil syndrome?
Radiography of the cervico-thoracic spine allows detecting:
- The presence of deformed vertebrae.
- The accretion of the bodies of the vertebrae.
- The decrease in their number.
- Abnormal standing of the blades.
After the diagnosis is confirmed, the doctor prescribes an additional procedure of ultrasound of the internal organs. This allows you to identify anomalies in their presence. If the syndrome is accompanied by neurological pathology, it may be necessary to conduct a vascular ultrasound, MRI of the cervical region, EEG and angiography. Consultation with genetics is mandatory. Based on its result, the doctor is able to determine what type of disease is inherited and what is the risk of occurrence of the disease in future generations.
Forms of the syndrome
Today, Klippel-Feil syndrome (photos can be seen in this article) is a rather rare pathology. Symptoms of the disease are diagnosed in one child out of one hundred twenty thousand. This anomaly has three forms:
- The number of segments of the cervical spine decreases, they gradually grow together, resulting in a visual shortening of the neck. This form of the disease causes a difficult head movement.
- Formed synostosis of the cervical spine as a result of its fusion with the occipital bone.With this form, the patient loses the ability to turn the head without pain. The occiput and cervical vertebrae are a single whole.
- The combination of the first two types of pathology is a third form.
Only a specialist with the results of the necessary research is able to determine the form of the syndrome.
Principles of treatment of the disease
Unfortunately, modern doctors do not have adequate methods for the complete elimination of the syndrome. Therapy involves only the prevention of the occurrence of secondary deformities. The most commonly used conservative treatment methods, which are based on massage and exercise therapy. Drug therapy can be prescribed when the syndrome is accompanied by the manifestation of severe pain, and in the event that there is compression of the nerve roots. The most commonly used drugs are a group of analgesics, as well as drugs that have anti-inflammatory effects. If the compression is prolonged, then surgical intervention is indicated. In this case, the main purpose of the operation is to eliminate pain and partial correction of external defects.
Surgical treatment of Klippel-Feil syndrome
The main indication for surgery is persistent pain, which causes compression of the nerve roots. It is worth noting that with age, the condition of patients worsens significantly. That is why the operation is carried out without delay, immediately after the diagnosis of the syndrome. In order to increase the mobility of the neck of the patient, using a technique such as cervicalization by the method of Bonol. This operation involves the removal of the four upper ribs and periosteum, which allows to reduce the pressure on the internal organs. Conduct a similar operation in several stages: first, the surgeon removes the ribs from the patient on the one hand, followed by a rather long period of rehabilitation and restoration of the body. After that, the second stage of the operation is performed, and the ribs are removed from the other side.
The rehabilitation period is very long and requires a lot of effort on the part of the patient, his relatives and doctors. A patient who has undergone such surgery will have to spend several months in a stationary state. However, do not abandon the operation.Modern medicine can provide only one effective method of treatment and this is just such an operation. It will eliminate external defects. If, however, to refuse treatment, the development of complications of Klippel-Feil syndrome is possible.
First of all, the exacerbation of diseases of internal organs occurs, then a strong pain syndrome develops. The pain results from the infringement of the nerve roots. It, by the way, can lead to complete immobilization.
Diseases of internal organs threaten pathological processes that are irreversible. The result may be the early death of the patient.
What is the prognosis for Klippel-Feil syndrome?
If the surgery and rehabilitation period are successful, then the patient can count on a full life. As a result of the operation, visual lengthening of the neck will occur, which is favorable from an aesthetic point of view.
As we have already noted, this syndrome is genetically determined, therefore there is no specific prevention of this disease.If there have been cases of manifestation of a similar pathology in the family, then it is obligatory to visit a geneticist at the planning stage of the child. The specialist will conduct the necessary research, assess the risk of occurrence of the Klippel-Feil syndrome in the unborn child. Consequences can be avoided.