Cobb syndrome is a rarely occurring disease associated with malformations of the blood vessels. Cobb syndrome exists from birth and manifests as angiomas of the muscles, skin, bones, and spinal cord, among others. The angiomas are either arterio-venous or venous only. Cobb syndrome is usually confined to a specific area of the body.
What is Cobb syndrome?
Cobb syndrome is synonymously called spinal arteriovenous metameric syndrome or cutaneous angiospinal angiomatosis. Normally, hemangiomas in the skin are comparatively harmless. However, the angiomas occurring in Cobb syndrome indicate unrecognized damage to the spinal cord. Especially frequent are the so-called AV malformations. These are capable of causing neurological deficits and paresis. The disease term Cobb syndrome is based on the first describer of the disease, who first summarized the disease scientifically in 1915. Cobb syndrome is characterized by typical abnormalities of the vessels in the skin, some of which are arterio-venous or venous only. In addition to the skin, the bones, muscles, spinal cord, and medulla are also affected by the lesions on the vessels. The malformations distribute segmentally and sometimes include some metamers. Cobb syndrome generally occurs with a very low frequency, with only under 100 cases of the disease known to date. Cobb syndrome is about equally likely to occur in males and females.
Causes
In Cobb syndrome, current evidence suggests that there are no abnormalities in the chromosomes. There is also no clustering in the families of affected patients. Cobb syndrome develops in early stages of embryonic development. In this process, precursor cells of later vessels move to those areas where they are later permanently located, such as bone, skin, or spinal cord.
Symptoms, complaints, and signs
The symptoms of Cobb syndrome are varied and sometimes vary in individual cases. Most typical are the neurologic signs of the disease, some of which have parallels to acute hemorrhagic episodes. In addition, similarities to chronic venous congestion in the area of the spinal cord are sometimes found. The localization of the malformations on the vessels determines the severity of the neurological deficits. Thus, the anomalies occur either thoracically, sacrally, or cervically. In the majority of cases, the lower limbs are affected by the deficits. For example, bilateral motor and sensory deficits occur, which are usually not symmetrical. In addition, so-called sphincter disorders occur. On the skin, the signs of Cobb syndrome are usually manifested in two-dimensional abnormalities of the vessels, especially in so-called port wine nevi. In addition, angiolipomas, angiokeratomas and lymphangiomas may form. The malformations of the medulla are mostly arterio-venous anomalies. In contrast, damage to the bones and musculature results in localized pain or remains completely asymptomatic.
Diagnosis
The diagnosis of Cobb syndrome is made by an appropriate specialist to whom the general practitioner refers the patient after an initial examination. The patient interview is used to analyze the individual symptoms and medical history. The physician then examines the person suffering from Cobb syndrome, initially by means of a visual examination. The focus here is on examining the externally visible signs of Cobb’s syndrome, which appear primarily on the skin. Angiomas in deeper layers, on the other hand, can only be detected with the aid of imaging procedures. For example, an MRI examination 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 detected prenatally by means 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 distinguishes Cobb syndrome from herpes zoster, Fabry syndrome and infantile hemangiomas. The similarities in symptoms lead to some confusion with Cobb syndrome.
Complications
Various complications can occur with Cobb syndrome, depending greatly on the severity and location of the disease. In most cases, however, problems occur in the area of the spinal cord. Vessels may be formed incorrectly and thus not function properly. This often results in certain limbs and extremities of the body not functioning properly. It is not possible to predict whether or which part of the body will be affected, and if so, which part. Cobb syndrome may also cause the patient to have deformities of the bones. There is not necessarily pain. Treatment can be done by the doctor and can limit the symptoms in Cobb syndrome relatively well. It usually takes place surgically and does not lead to complications. Due to Cobb syndrome, the patient is more likely to have peresences. An exact prediction is not possible in Cobb syndrome, because the course of the disease depends on the treatment and the expression. Usually, the life expectancy of patients is not reduced and the syndrome does not particularly limit the patient in life. Because Cobb syndrome is congenital, it cannot be prevented or avoided.
When should you see a doctor?
Usually, Cobb syndrome results in various deformities, so an additional diagnosis is not necessary. However, the doctor should be consulted whenever the affected person suffers from difficulties in everyday life due to the malformations. Sudden signs of paralysis or disturbances in sensitivity can also indicate Cobb syndrome and must be examined by a doctor. Furthermore, those affected very often show deficits in motor function and coordination, so that a doctor should be consulted immediately, especially in children. Pain in the bones and muscles can also be part of Cobb syndrome, they are also 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 the affected person and their relatives suffer from psychological discomfort due to the syndrome, psychological treatment should be provided.
Treatment and therapy
Options for treatment of Cobb syndrome are relatively advanced and varied. Physicians usually treat changes in the vessels around the bones and muscles with embolization. Within the framework of this therapeutic method, an occlusion of blood-bearing arteries is carried out by means of organic adhesive substances. In most cases, the treatment is performed surgically. Smaller anomalies on the surface of the skin can be treated well by means of laser beams. Radicular damage as well as impairments on the medulla also receive embolization. If endovascular therapeutic approaches fail, injections are considered, either paraspinally or epidurally. In general, it is not necessary to perform radiation therapy. Timely diagnosis of Cobb syndrome with subsequent treatment-related measures reduces the incidence of neurologic impairment in patients. In particular, it reduces the risk of paresis, such as of the limbs. In principle, an exact prognosis of Cobb syndrome is not possible. In some cases, the damage to the vessels causes little or no symptoms. If Cobb syndrome is inadequately treated, patients are at risk of developing Foix-Alajouanine syndrome or subacute necrotizing myelitis, respectively.
Outlook and prognosis
The course of Cobb syndrome can vary widely. In mild cases, there are only a few deformities and skin disorders that do not cause much distress to the affected person 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 malformations can place a physical and psychological burden on those affected. However, if they are treated at an early stage, any late effects can be avoided. If no treatment takes place or if the malformations are severe and cannot be treated surgically, the prognosis is negative.In the course of life, other complaints often arise, such as circulatory disorders, premature joint wear and tear, or poor posture. In addition, psychological disorders such as social anxiety, mood swings, depression or inferiority complexes may develop. The accompanying pain contributes to the usually poor mental and physical condition of those affected. In Cobb syndrome, life expectancy is not usually reduced. The syndrome also does not usually pose a major limitation in life for the affected person and does not reduce well-being. Since the disease is congenital, however, there is also no possibility of causal treatment. Cobb syndrome also cannot be prevented.
Prevention
There are no options for preventing Cobb syndrome because the disease is present at birth.
Follow-up care
After surgery, regular follow-up examinations are performed. During the first few days, follow-up angiograms are performed to ensure that the angiomas have been completely removed. After seven to eight days, the patient can leave the hospital, provided there is no bleeding. In case of post-operative bleeding and other complications, the hospital stay may be several weeks. Pain after surgery is treated with medication. Physical therapy is not usually necessary for rehabilitation. However, in the case of AV malformations in the spinal cord, paralysis may already have formed, which must be compensated for during a longer rehabilitation period. The surgical wound should be completely healed after four to six weeks, provided that no complications occurred during the operation. Until then, the patient is unable to work and should take sufficient rest. There are also various health risks after recovery. For example, thromboses can form or secondary diseases such as Foix-Alajouanine syndrome can occur. For this reason, the patient must see a doctor at regular intervals, who can monitor the healing process and take the necessary steps in the event of complications. Other follow-up measures include strict skin care and keeping a diary of symptoms, noting any side effects or interactions of prescribed medications, as well as other unusual symptoms and manifestations.
What you can do yourself
The hints and tips for self-help are very limited in Cobb syndrome. They direct their focus on the preservation of the joy of life and the courage to live for the affected person as well as his close relatives. With psychological stability, the affected person and his family can do a lot for his quality of life. Depending on the severity of the disease, the child receives medical care and can be permanently cured. In these cases, only a brief accompaniment of the parents is needed to alleviate their fears. Parents whose children suffer very much from the congenital malformation should build a stable environment and get comprehensive information about the child’s disease. The general lifestyle should be adjusted to the available possibilities. For a good well-being, participation in social life is important for all involved. The child’s self-confidence should be strengthened and support should be provided for all ventures that are possible with the disease. At the same time, it is important that the close relatives provide their own balance. Since the disease is emotionally stressful for everyone involved, the well-being of each individual must be taken into account. If increased fears or worries arise, these should be addressed and, if necessary, therapeutic help should be sought.
