The Bogaert-Divry syndrome is a hereditary disease. The inherited disease is inherited as an autosomal recessive trait. In addition to mental delays, hemangiomas on the skin and in the central nervous system are also symptoms of Bogaert-Divry syndrome.
What is Bogaert Divry Syndrome?
The hereditary disease Bogaert Divry Syndrome only occurs if both parents are carriers of the defective gene. If only one parent has the defective allele, the child will not become ill. It is common for the disease to skip generations. Statistically, the probability of developing Bogaert Divry Syndrome is 25 percent if the disease runs in the family.
According to healthknowing, Bogaert Divry Syndrome is a neurocutaneous disease. This means that the disease manifests itself in the nervous system and on the skin. The first symptoms of the hereditary disease appear in small children. The disease is often diagnosed by the typical pigmentation in childhood. An outbreak of Bogaert-Divry syndrome in young adults or adults is rare.
The wrong development of blood vessels and hemangiomas in the brain lead to physical impairment for those affected. In addition to cosmetic problems, mental deficits often occur. The hereditary disease can also favor other diseases such as epilepsy.
Causes
Since Bogaert Divry Syndrome is a hereditary disease, external influences are not known to be triggers. The autosomal recessive inherited disease has so far been little researched. Therefore, the exact mutation in the genes that cause the disease is not known. The exact location of the defective gene is also not known.
In the case of inherited diseases, different causes can be possible triggers. There are three possible causes of genetic diseases. The causes include chromosomal, polygenic and monogenic diseases. A defect in a gene is referred to as a monogenic disease.
This gene contributes to the fact that enzymes or proteins are lost or malformed. If the disease is polygenic, different genes contribute to the disease. These different genes cannot be detected. A chromosomal hereditary disease is triggered by the changed structure of the chromosomes. A change in the number of chromosomes also leads to a chromosomal disease.
Symptoms, ailments & signs
The symptoms of Bogaert Divry Syndrome can be varied. This is because the hereditary disease affects the central nervous system and the skin. Usually, motor skills are disrupted as a result of the disease. The reason for this is that hemangiomas often settle on the menigns and in the brain.
The settlement of hemangiomas in the brain and on the menigns leads to motor disorders. The motor problems can show up as difficulty walking, writing, or performing specific movements.
In addition to motor disorders, people with the hereditary disease often have epilepsy. An epileptic seizure can have different symptoms. Loss of consciousness does not always have to be given to speak of an epileptic seizure. As a rule, however, epilepsy is associated with loss of consciousness and the typical jerks and spasms. Mild epilepsy can also be expressed by a brief absence.
Mental retardation is a common symptom of the inherited disease. Since the hereditary disease usually occurs in childhood, developmental disorders occur. Incomplete or delayed development leads to problems with cognitive abilities. Often, children with mental retardation have difficulty learning and interacting with other people.
Marbled skin is often found in those affected. The appearance of the blotchy skin on the hands, legs and trunk is typical.
Diagnosis & course
Diagnosing the syndrome requires a lot of experience in dealing with hereditary diseases. Some inherited conditions, including Sneddon syndrome, have symptoms similar to Bogaert-Divry syndrome.
Due to the frequent outbreak of the hereditary disease in childhood and the angiomatoses, a diagnosis can be made at an early stage. Hereditary traits and family history considerations can also help diagnose the hereditary disease.
Bogaert Divry Syndrome is a progressive disease. Symptoms also get worse with age. Because of this, the life expectancy of those affected is reduced.
Complications
As a rule, patients with Bogaert-Divry syndrome have relatively severe mental impairments. In particular, the patient’s fine and gross motor skills are damaged, so that normal movements are not easily possible. Walking and performing hectic and special movements are also no longer possible due to Bogaert-Divry Syndrome.
Often there are severe problems, especially with children, as they can be bullied or teased because of the syndrome. In old age, the Bogaert-Divry syndrome can lead to epileptic seizures. In addition, there are twitches in the extremities and sometimes cramps.
The mental limitations of the children lead to developmental disorders, so that they are dependent on special help. Above all, concentration problems occur here, which severely hinder learning. Treatment for Bogaert-Divry syndrome is not possible.
However, symptoms can be treated to help the child advance mentally. In most cases, Bogaert Divry Syndrome has a reduced life expectancy. In adulthood, surgical interventions may be necessary to avoid consequential damage to the body.
When should you go to the doctor?
Bogaert-Divry syndrome is a hereditary disease that must be taken very seriously and must be treated by a doctor. It usually appears in childhood, since it is progressive, but it is not always recognized immediately and is often misdiagnosed.
People in whose families Bogaert Divry Syndrome has already appeared should familiarize themselves with the symptoms and the course of the disease in order to recognize the first signs in themselves or their children as such and to be able to start treatment promptly.
The syndrome often shows itself initially as changes in the skin. Those affected develop discolorations on the hands, legs and upper body that are reminiscent of marble. The Bogaert-Divry syndrome also affects the central nervous system, which leads to motor disorders.
If characteristic changes in the skin are accompanied by difficulties in walking, grasping or writing, a doctor should be consulted promptly and specifically addressed about Bogaert-Divry syndrome. This is all the more true if the illness has already appeared in the family.
In children, the Bogaert Divry Syndrome is usually associated with mental retardation, which is particularly noticeable as a pronounced learning disability. Parents should ensure that the cause of their child’s intellectual disability is assigned to the correct underlying disease and have their child treated by a specialist.
Treatment & Therapy
There is no specific medication or therapy for the syndrome. Treatment of the hereditary disease is symptomatic. Cosmetic treatments are often carried out as the disease progresses. The affected areas are often excised. The hyperpigmented areas can easily be removed from the body.
There is also the possibility of cosmetic masking. By a treatment with the laser, the affected skin areas can be freed from the characteristic color. With the help of the laser treatment, the sick can be freed from the stains.
In the later course of the disease, it is usually necessary to carry out further operations. Usually the angiomas must be removed. The angiomas are removed with surgery on the affected areas. Often the angiomas on the head have to be removed.
This can help alleviate the symptoms of Bogaert Divry Syndrome. Surgery also improves the quality of life of those affected. Laser treatment can also be performed for angiomas that are on the surface of the body.
Outlook & forecast
So far, no curative therapy has been possible for Bogaert-Divry syndrome, as it is a rare hereditary disease. However, symptoms can be alleviated as part of symptomatic therapy. Unfortunately, it is a progressive disease. Life expectancy is reduced, although no precise information is available yet. With good therapy there are certainly courses with normal life expectancy. However, the quality of life is severely restricted by the Bogaert-Divry syndrome.
This always leads to neurological deficits, motor disorders, epileptic seizures and progressive mental retardation. The skin is marbled and mottled. Only cosmetic masking can help here. Furthermore, in some cases, surgery to remove angiomas (blood sponges) in the brain is recommended in order to improve the fine and gross motor skills of those affected. Walking, writing and other special movements are particularly difficult due to the effects of the vascular malformations.
However, the progression of mental retardation cannot be prevented in the long term. The epileptic seizures will also occur throughout your life. Vascular malformations in the retina can in rare cases lead to bleeding and thus to eye problems. With intensive support for affected children, it is possible to alleviate the mental deficits. However, the mental deterioration progresses in the long term, which is why it is referred to as pre-senile dementia.
Prevention
Since Bogaert Divry Syndrome is a hereditary disease, it cannot be prevented. In order to minimize the risk that your own child is affected by the disease, the family’s hereditary diseases should be considered. The occurrence of the autosomal recessive inherited disease is also favored when children are conceived by relatives.
You can do that yourself
Bogaert Divry Syndrome is a hereditary disease for which no causal self-help measures are available. Those affected and their families can help reduce some of the symptoms and cope better with everyday life despite disease-specific restrictions.
In addition to the central nervous system, Bogaert-Divry syndrome primarily affects the skin. Often this shows a noticeable pigmentation reminiscent of marble. If this symptom only affects the trunk in addition to hands and legs, it can be concealed with clothing and fashionable gloves. However, those affected often feel inhibited in situations in which they are expected to take off their clothes. Water sports and beach holidays are therefore often avoided.
Intimate life can also suffer greatly from these inhibitions. Those affected should consider psychotherapy in these cases. If the face is also incorrectly pigmented, an attempt can be made to hide the disruption with make-up. If those affected suffer severely from the skin changes, it is essential to clarify with a specialist which medical interventions can bring about an improvement or elimination of the disorder.
Intellectual development is often restricted or delayed. Children with mental retardation often have difficulty learning and interacting with others. Early intervention is of great importance in such cases. Parents should find a (pre-) school place in an institution that offers their child the best possible development opportunities.
