Bogaert-Divry syndrome is a hereditary disease. The hereditary disease is inherited in an autosomal recessive manner. In addition to mental retardation, symptoms of Bogaert-Divry syndrome include hemangiomas on the skin and in the central nervous system.
What is Bogaert-Divry syndrome?
The inherited disorder Bogaert-Divry syndrome occurs only when both parents are carriers of the defective gene. If only one parent has the defective allele, the child does not develop the disease. It is common for the disease to skip several generations. Statistically, there is a 25 percent chance of developing Bogaert-Divry syndrome if the disease runs in the family. 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 infancy. Due to the typical pigmentation in childhood, the disease is often detected. An outbreak of Bogaert-Divry syndrome in young adults or adults is rare. Due to the maldevelopment of vessels as well as the hemangiomas in the brain, the affected persons suffer from physical impairment. In addition to cosmetic problems, mental deficits often occur. The hereditary disease can also promote other diseases such as epilepsy.
Causes
Because Bogaert-Divry syndrome is a hereditary disease, external influences are not known to be a trigger. The disease, which is inherited in an autosomal recessive manner, has been little studied. Therefore, the exact mutation of the genes that lead to the triggering of the disease is not known. The exact location of the defective gene is also unknown. In inherited diseases, different causes can be considered as triggers. There are three causes that can be considered in genetic diseases. The causes include chromosomal, polygenic and monogenic diseases. Monogenic disease is the defect of one gene. This gene contributes to the loss or malformation of enzymes or proteins. If it is a polygenic disease, different genes contribute to a disease. These different genes cannot be detected. A chromosomal inherited disease is caused by the altered structure of chromosomes. A change in the number of chromosomes also leads to chromosomal disease.
Symptoms, complaints, and 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 function disorder occurs under the disease. The reason for this is that hemangiomas often settle on the meninges and in the brain. Due to the settlement of hemangiomas in the brain and meninges, motor dysfunction occurs. The motor problems may be manifested by difficulty walking, writing, or making 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 present to speak of an epileptic seizure. However, epilepsy is usually accompanied by loss of consciousness and the typical twitching and convulsions. Mild epilepsy may 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 delays occur. Incomplete or delayed development leads to problems with cognitive abilities. Often, children with mental retardation have difficulty learning and interacting with others. Affected individuals are often found to have marbled skin. Typically, the mottled skin appears on the hands, legs, and trunk.
Diagnosis and course
Diagnosis of the syndrome requires a great deal of experience in dealing with inherited diseases. Some inherited disorders, including Sneddon syndrome, have symptoms similar to Bogaert-Divry syndrome. Because of the frequent onset of hereditary disease in childhood and angiomatoses, a diagnosis can be made early. Hereditary characteristics and looking at family history can also help diagnose the hereditary disease. Bogaert-Divry syndrome is a progressive disease.With increasing age, the symptoms also worsen. For this reason, the life expectancy of affected individuals is reduced.
Complications
As a rule, Bogaert-Divry syndrome results in relatively severe mental impairment in the patient. In particular, the patient’s fine motor and gross motor skills are damaged, so that ordinary movements are not readily possible. Also walking and performing hectic and special movements is no longer possible due to the Bogaert-Divry syndrome. This often causes severe problems, especially in children, who may be bullied or teased because of the syndrome. In older age, epileptic seizures can occur due to the Bogaert-Divry syndrome. In addition, there are twitching in the extremities and sometimes convulsions. Due to the mental limitations, the children suffer from developmental disorders, so that they are dependent on special help. In particular, concentration problems occur, which strongly hinder learning. There is no treatment possible for Bogaert-Divry syndrome. However, the symptoms can be treated to advance the child’s mental progress. In most cases, there is a reduced life expectancy with Bogaert-Divry syndrome. In adulthood, surgical intervention may be necessary to prevent secondary damage to the body.
When should you see a doctor?
Bogaert-Divry syndrome is a very serious hereditary disease and must be treated by a doctor without fail. It usually appears in childhood, but because it is progressive, it is not always recognized immediately and is often misdiagnosed. People in whose families the Bogaert-Divry syndrome has already appeared should familiarize themselves with the symptoms and the course of the disease, in order to be able to recognize the first signs in themselves or their children and to be able to start treatment promptly. The syndrome is often initially manifested by changes in the skin. Those affected develop discolorations on the hands, legs and upper body that resemble marble. Bogaert-Divry syndrome also affects the central nervous system, resulting in motor function disorders. If characteristic changes of the skin are accompanied by difficulties in walking, grasping or writing, a doctor should be consulted promptly and Bogaert-Divry syndrome should also be specifically addressed. This applies all the more if the disease has already occurred in the family. In children, Bogaert-Divry syndrome is usually accompanied by mental retardation, which is particularly noticeable in the form of a pronounced learning disability. Parents should take care to assign the cause of their child’s mental retardation to the correct underlying condition and have their child treated by a specialist.
Treatment and therapy
There is no specific medication or therapy for the syndrome. Treatment of the hereditary disease is symptomatic. During the course of the disease, cosmetic treatments are often performed. Excision of affected areas is common. The hyperpigmented areas can be easily removed from the body. There is also the possibility of cosmetic masking. Laser treatment can remove the characteristic coloration from the affected skin areas. With the help of laser treatment, the affected persons can thus be freed from the spots. In the later course of the disease, it is usually necessary to perform further operations. Usually the angiomas have to be removed. The removal of the angiomas is done with surgery on the affected areas. Often, removal of the angiomas from the head must be performed. This can alleviate the symptoms of Bogaert-Divry syndrome. Surgery also improves the quality of life for those affected. For angiomas that are on the surface of the body, laser treatment can also be performed.
Outlook and prognosis
To date, no curative therapy is available for Bogaert-Divry syndrome because it is a rare hereditary disorder. However, as part of symptomatic therapy, the symptoms that do occur can be alleviated. Unfortunately, it is a progressive disease. The life expectancy is reduced, although there is no exact information on this yet. Certainly, with good therapy, there are also courses with normal life expectancy.However, the quality of life is very much limited by the Bogaert-Divry syndrome. Thus, there are always neurological deficits, motor disorders, epileptic seizures and progressive mental retardation. The skin is marbled and mottled. Only cosmetic masking can provide relief. Furthermore, in some cases, surgical intervention to remove angiomas (blood sponges) in the brain is recommended to improve the fine and gross motor skills of the affected person. Walking, writing and other specific 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. Epileptic seizures will also occur throughout life. Vascular malformations in the retina can, in rare cases, lead to hemorrhages and thus to eye problems. With intensive support for affected children, it is possible to mitigate the mental deficits. However, mental deterioration progresses in the long term, which is why it is referred to as presence dementia.
Prevention
Because Bogaert-Divry syndrome is a hereditary disease, no prevention of the disease is possible. To minimize the risk of one’s child being affected by the disease, the hereditary diseases of the family should be considered. The occurrence of the autosomal recessive inherited disease is also favored when children are conceived among relatives.
This is what you can do yourself
Bogaert-Divry syndrome is an inherited disease for which no causative self-help measures are available. However, affected individuals and their families can help push back some of the symptoms and better manage daily life despite disease-specific limitations. In addition to the central nervous system, Bogaert-Divry syndrome primarily affects the skin. Often, the skin shows a conspicuous pigmentation reminiscent of marble. If this symptom only affects the trunk in addition to the hands and legs, it can be concealed with clothing and fashionable gloves. However, those affected often feel inhibited in situations where they are expected to remove their clothing. Water sports and bathing vacations are therefore often avoided. Intimate life can also suffer greatly from these inhibitions. Affected persons should consider psychotherapy in these cases. If the face is also mispigmented, an attempt can be made to conceal the disorder with makeup. If the affected person suffers severely from the skin change, it is essential to clarify with a specialist which medical interventions can bring about an improvement or elimination of the disorder. Often the intellectual development is also limited or delayed. Children with mental retardation often show difficulties in learning and interacting with others. Early intervention is of great importance in such cases. Parents should make timely arrangements for a (before) school place in an institution that offers their child the best possible developmental opportunities.
