The De-Barsy syndrome belongs to the diseases of progeria. This means "premature aging", which can also be recognized by the symptoms. This leads, among other things, to mental retardation, pale skin, weakened joints and various visual deficiencies. The latter are usually associated with corneal clouding and, like the other symptoms, are difficult to treat.
There are now some medications that increase life expectancy, but the cause can not be treated. The preventive measures are limited to a minimum, since the congenital defect is caused by spontaneous mutation and usually makes itself felt after birth. The actual treatment is therefore focused on operations that, for example, improve vision or stabilize the joints.
The De-Barsy syndrome, also called De-Barsy-Moens-Dierckx syndrome, is innate and can not be traced to a cause. However, it is believed that a change in the genome is responsible for the genesis.
More precisely in the so-called lamin A / C gene, which is responsible for the production of two proteins - lamin A and Laminc C -. These, in turn, strengthen the cell body shell and are involved in cell division. In the case of De-Barsy's syndrome, the gene is defective, causing a disruption to the processes mentioned. The development that leads to the alteration of the genome is purely coincidental and usually occurs without prior illness of the parents.
This spontaneous mutation makes treatment and prevention extremely difficult. Identifying the symptoms is also a tedious task due to the diversity of the De-Barsy syndrome.
De-Barsy syndrome is associated with a number of obvious symptoms. This can lead to various skin symptoms such as itchy skin and a skin lesion. Moreover, in many cases, a skull blister, that is an accumulation of fluid under the skin layers. It can also cause eczema, rashes and acne.
In the area of the eyes, there may be fog and blurred vision, or even complete loss of vision. Rarely, there are hip dislocations without recognizable causes, short stature or protruding ears.
External signs of De-Barsy's syndrome include downward eyelids, a small mouth and a broad, relatively flat bridge of the nose. It also leads to hyperextensible joints, increased tendon reflexes and growth retardation. These symptoms already occur in the womb and are often associated with a diminished mental development.
In childhood the disease can be recognized by large fontanelles, corneal opacities and cataracts. Due to the diversity of the possible symptoms and complaints, a clear classification of the disease is only possible through a comprehensive diagnosis.
The diagnosis of De-Barsy syndrome is made by a variety of studies. First, a medical history is taken with the patient or a parent to understand the details. Among other things, it determines which symptoms occur and since when they occur and the general state of mind of the patient.
Pre-existing diseases or genetic defects in the family will also be identified during this interview and included in the investigation. If the doctor already has a specific suspicion after the anamnesis, a skin biopsy is usually performed. Here, a tissue sample is removed from the skin and assessed dermatopathologically.
Depending on the nature and severity of the disease, either a simple punch biopsy or a more complex incisional biopsy can be performed. From there, blood tests and a CT scan can be performed to rule out other conditions and to determine the severity of the De-Barsy syndrome.
The disease course in a De-Barsy syndrome is usually negative. If the disease is detected early, eye surgery and physiotherapy can be used to correct the defects. Nevertheless, affected persons usually have a lower quality of life due to reduced mobility and reduced eyesight.
However, there are now some medications that have been developed specifically for the treatment of De-Barsy syndrome and specifically against known symptoms such as narrowed blood vessels and weak bones act.
If symptoms such as itchy skin, rashes and other signs of De-Barsy's Syndrome are noticed, a visit to a doctor is recommended. In childhood, the disease is also noticeable by large fontanelles, corneal opacities and cataracts.
Parents who notice symptoms in their child should contact the pediatrician or family doctor immediately. Depending on the symptoms, a specialist in hereditary diseases, the ophthalmologist or the orthopedist can also be consulted. If it comes to an accident or crash due to the malformations, the emergency medical service is best contacted.
In the best case, the affected child is taken directly to the nearest hospital. The De-Barsy syndrome must always be clarified by a doctor and treated if necessary. Usually, the child needs support for everyday tasks at an early age. If there are any signs of mental distress - such as when the child is being bullied in kindergarten or at school - a psychologist should also be involved.
The treatment of De-Barsy syndrome focuses on the symptoms. In order to avoid contractures, for example, gymnastic and physiotherapeutic measures are initiated. Also, the vision can be strengthened by various measures such as surgery or in the advanced stage by a visual aid. In addition, special medicines called bisphosphonates are used.
These strengthen the bones and joints and thus prevent mentioned fractures and contractures. Depending on the severity of the disease, acetylsalicylic acid may also be prescribed. The product prevents blood clots and thus prevents heart attacks and strokes, which can extend the life expectancy significantly.
The actual cause of the De-Barsy syndrome can not be treated so far. However, it is possible to stem the disease through early treatment and a few preventative measures.
As a rule, the De-Barsy syndrome can not be treated causally, as it is a congenital disorder. The patients are therefore always dependent on a symptomatic therapy to relieve the symptoms and thus increase the quality of life.
If the De-Barsy syndrome is not treated, the sufferers suffer from various skin complaints. These often lead to inferiority complexes or reduced self-esteem, and children may also suffer from bullying or teasing. Often it also comes to mental upsets or depression. Likewise, there is a markedly delayed development of the patient and mental retardation.
The treatment of the De-Barsy syndrome therefore depends primarily on the skin complaints and the delayed development. With the help of ointments and creams the skin complaints can usually be well alleviated. Intellectual development can also be alleviated by intensive support. However, a complete cure does not occur, so that those affected are always dependent on the help of other people in their everyday lives. As a rule, the De-Barsy syndrome does not reduce life expectancy.
Since the De-Barsy syndrome is innate, an outbreak of the disease can not be prevented. However, it is possible to become aware of the syndrome by a prenatal examination and to prepare the necessary measures. The infant can then be operated relatively soon after birth and be supplied with various medications.
This also includes drugs that contain a special farnesyl transferase inhibitor, which makes the blood vessels elastic. This can potentially extend the life expectancy of the patient.
In the case of De-Barsy's syndrome, the affected person has in most cases very few measures of possible follow-up care available. Since this disease is a congenital disease, it can not be fully treated, so the follow-up always relates to the purely symptomatic treatment. However, at the first signs and symptoms of this syndrome, a doctor should be contacted to prevent further discomfort.
If the child has a desire to have children, genetic counseling may also be useful to prevent the recurrence of the disease. In most cases, De-Barsy syndrome is treated by taking medication. The person concerned should pay attention to regular intake and also to the correct dosage of the medication. If there are questions or ambiguities, always contact a doctor first.
Since the disease also significantly increases the likelihood of a heart attack, the heart should be examined regularly by a doctor. In general, a healthy lifestyle with a healthy diet has a very positive effect on the progression of this disease. Whether the De-Barsy syndrome nevertheless leads to a reduced life expectancy of the person affected can not be universally predicted.
De-Barsy syndrome is a congenital disease whose causes are not fully understood. The person concerned can not take measures to treat the syndrome causally.
The external features of the disease, including downward eyelids, protruding ears, a small or deformed mouth and often a very wide and flat bridge of the nose, can usually be corrected with the help of plastic surgery.
The often observed short stature is often associated with hyperextensible joints and increased tendon reflexes. Here, early physiotherapy can help build targeted muscles to support the affected joints. Thus, the mobility of the patient is continuously improved and maintained. However, if mobility remains limited, the patient should learn to handle walking aids at an early stage.
Also, the reduced vision can not always be completely corrected by visual aids. Depending on the extent of poor eyesight, it may be helpful if the patient gets used to using a blind stick or other aids in good time.
But De-Barsy Syndrome does not just affect physical development. Very often, those affected are also mentally handicapped, although the extent of the disability can vary greatly. In any case, parents should look for optimal early intervention to give their child the best possible educational support.Tags: