When Cobb syndrome is a rarely occurring disease that is associated with abnormalities of the vessels. Cobb syndrome exists from birth and manifests itself in angiomas of the muscles, skin, bones and spinal cord, among other things. The angiomas are either arterio-venous or only venous. Cobb syndrome is usually limited to a specific area of the body.
What is Cobb Syndrome?
Cobb syndrome is synonymous with spinal arteriovenous metameric syndrome or cutaneous mengiospinal angiomatosis. Hemangiomas in the skin area are usually relatively harmless. The angiomas that occur in the context of Cobb syndrome, however, indicate undetected damage to the spinal cord.
The so-called AV malformations are particularly common. These are able to cause neurological deficits and paresis. The term Cobb syndrome is based on the first person to describe the disease, who first scientifically summarized the disease in 1915.
The Cobb syndrome is characterized by typical abnormalities of the vessels in the skin, some of which are arterio-venous or only venous. In addition to the skin, the bones, muscles, the spinal cord and the medulla are also affected by the lesions on the vessels. The malformations are distributed segmentally and sometimes also include some metamers.
The Cobb syndrome generally occurs with a very low frequency, because so far only less than 100 cases are known. Cobb syndrome is roughly equally likely to occur in men and women.
Causes
According to current knowledge, there are no chromosome abnormalities in Cobb syndrome. There is also no accumulation in the families of the sick patients. Cobb syndrome develops in the early stages of embryonic development. The precursor cells of later blood vessels move to the areas where they will be located afterwards, such as bones, skin or spinal cord.
Symptoms, ailments & signs
The symptoms of Cobb syndrome are diverse and sometimes vary in individual cases. The neurological signs of the disease, some of which have parallels to acute hemorrhagic incidents, are particularly typical. In addition, there are sometimes similarities to chronic venous congestion in the spinal cord area.
The location of the malformations on the vessels determines the severity of the neurological deficits. The anomalies are either thoracic, sacral or cervical. In the majority of cases, the lower limbs are affected by the deficits.
For example, bilateral failures of motor and sensory functions occur, which are usually not symmetrical. In addition, so-called sphincter disorders occur. On the skin, the signs of Cobb syndrome are usually expressed in flat anomalies of the vessels, especially in so-called port wine nevi.
In addition, angiolipomas, angiokeratomas and lymphangiomas may develop. The malformations of the medulla are mostly arterio-venous anomalies. On the other hand, the damage to the bones and muscles leads to localized pain or remains completely without symptoms.
Diagnosis
The diagnosis of Cobb syndrome is made by a suitable specialist, to whom the general practitioner refers the patient after an initial examination. The patient interview serves to analyze the individual symptoms as well as the medical history. Then the doctor first examines the person with Cobb syndrome by means of a visual examination.
The focus is on the assessment of the externally visible signs of Cobb syndrome, which mainly appear on the skin. Angiomas in deeper layers, on the other hand, can only be detected with the help of imaging methods. For example, an MRI scan and medullary angiography are used.
Angiography provides an exact representation of the structure of the blood vessels. It is particularly important that corresponding anomalies can be identified prenatally on the basis of sonographic examinations. In this way, a prenatal diagnosis of Cobb syndrome is possible in some cases.
As part of the obligatory differential diagnosis, the treating specialist differentiates Cobb syndrome from herpes zoster, Fabry syndrome and childhood hemangiomas. The similarities of the symptoms lead to a certain likelihood of confusion with Cobb syndrome.
Complications
Various complications can occur in Cobb syndrome, which depend heavily on the severity and location of the disease. In most cases, however, there are problems in the spinal cord area. Vessels can be formed incorrectly and therefore not function properly.
This often results in certain limbs and extremities of the body not functioning properly. Whether and which part of the body will be affected cannot be predicted. Due to the Cobb syndrome, the patient can also have malformations in the bones. It doesn’t necessarily have to be pain.
Treatment can be provided by the doctor and can limit the symptoms of Cobb syndrome relatively well. It usually takes place surgically and does not lead to any complications. Cobb syndrome makes the patient more likely to develop peresis. An exact prediction is not possible in the case of Cobb syndrome, since the course of the disease depends on the treatment and the severity.
As a rule, the patient’s life expectancy is not reduced, and the syndrome does not particularly limit the patient’s life. Since Cobb syndrome is congenital, it cannot be avoided or prevented.
When should you go to the doctor?
As a rule, various malformations occur in Cobb syndrome, so that an additional diagnosis is not necessary. However, the doctor should always be consulted if the person concerned suffers from difficulties in everyday life due to the deformities. Sudden symptoms of paralysis or sensitivity disorders can also indicate Cobb syndrome and must be examined by a doctor. Furthermore, those affected very often show failures in motor skills and coordination, so that a doctor should be consulted immediately, especially with children.
Pain in the bones and muscles can also be part of Cobb syndrome and is a reason for a medical examination. The earlier Cobb syndrome is diagnosed, the better the further course of the disease. Usually the syndrome can be diagnosed by a general practitioner.
However, this also requires the use of imaging techniques. Further treatment can be carried out with the help of various specialists. If those affected and their relatives suffer from psychological complaints as a result of the syndrome, psychological treatment should be carried out.
Treatment & Therapy
The options for treating Cobb syndrome are relatively well developed and diverse. The doctor usually treats changes in the vessels in the area of the bones and muscles with the help of embolization. As part of this therapeutic method, blood-carrying arteries are closed using organic adhesive substances. In most cases, the treatment takes place surgically.
Smaller anomalies on the surface of the skin can be treated well with laser beams. Radicular damage and impairments to the medulla are also embolized. If endovascular therapeutic approaches fail, injections can be used, either paraspinally or epidurally.
In principle, it is not necessary to carry out radiation therapy. An early diagnosis of Cobb syndrome with subsequent technical treatment measures reduces the incidence of neurological impairments in the patient. In particular, this reduces the risk of paresis, for example on the limbs.
In principle, an exact prognosis for Cobb syndrome is not possible. In some cases, the damage to the vessels causes little or no symptoms. If the Cobb syndrome is inadequately treated, there is a risk that patients will develop Foix-Alajouanine syndrome or subacute necrotizing myelitis.
Outlook & forecast
Cobb syndrome can take very different courses. In mild cases, there are only a few deformities and skin disorders that do not pose a major burden for the person concerned and often do not require treatment. In severe cases, various malformations and organ damage can occur and the prospect of a symptom-free life is rather poor. The various deformities can stress those affected physically and mentally. However, if treatment is given early on, any long-term effects can be avoided.
If there is no treatment or if the malformations are severe and cannot be treated surgically, the prognosis is negative. Often, in the course of life, other complaints such as circulatory disorders, premature joint wear or poor posture arise. In addition, it can lead to mental illnesses such as social anxiety, mood swings, depression or inferiority complexes. The accompanying pain contributes to the mostly poor mental and physical condition of those affected.
With Cobb syndrome, life expectancy is usually not reduced. The syndrome usually does not represent a major limitation in life for the person concerned and does not reduce well-being. However, since the disease is congenital, there is no possibility of causal treatment. Cobb syndrome cannot be prevented either.
Prevention
There are no ways to prevent Cobb syndrome because the disease is present at birth.
Aftercare
Regular check-ups are carried out after the operation. Control angiographies are performed for the first few days to ensure that the angiomas have been completely removed. After seven to eight days, the patient can leave the hospital if there is no bleeding. In the event of secondary bleeding and other complications, the hospital stay can be several weeks.
Pain after the operation is treated with medication. Physiotherapy is usually not necessary for rehabilitation. With AV malformations in the spinal cord, however, paralysis may already have formed, which must be compensated for in a longer rehabilitation phase. The surgical wound should be completely healed after four to six weeks, provided that there were no complications during the operation.
Until then, the patient is unable to work and should take sufficient care of himself. There are also various health risks after recovery. For example, thrombosis can form or secondary diseases such as Foix-Alajouanine syndrome occur. Therefore, the patient must visit a doctor at regular intervals, who can monitor the healing process and take the necessary steps in the event of complications.
Further aftercare measures include strict skin care and the creation of a complaints diary in which any side effects and interactions of the prescribed medication as well as other unusual symptoms and symptoms are noted.
You can do that yourself
The hints and tips for self-help are only possible to a very limited extent with Cobb syndrome. They focus on maintaining the joie de vivre and the courage to live for the sick person and their close relatives. With a mental stability, the person concerned and his family can do a lot for their quality of life.
Depending on the severity of the disease, the child will receive medical care and can be permanently cured. In these cases, the parents only need to be accompanied briefly in order to alleviate their fears. Parents whose children suffer very badly from the congenital malformation should build a stable environment for themselves and obtain comprehensive information about the child’s disease. The general way of life is to be adjusted to the possibilities available.
For a good well-being, participation in social life is important for everyone involved. The child’s self-confidence should be strengthened and support in all projects that are possible with the disease should be guaranteed. At the same time, it is important that the close relatives provide for their own compensation. Since the disease is emotionally stressful for everyone involved, the well-being of each individual must be addressed. If there are increased fears or worries, these should be addressed and, if necessary, therapeutic help should be sought.
