De-Barsy syndrome is a congenital disorder that involves a range of physical and mental symptoms. Therapy focuses on treating the symptoms.
What is De-Barsy syndrome?
De-Barsy syndrome is one of the diseases of progeria. This means “premature aging,” which can also be seen in the symptoms. Thus, among other things, mental retardation, pale skin, weakened joints and various visual impairments occur. The latter are usually accompanied by corneal clouding and, like the other symptoms, are difficult to treat. There are now some medications that can be used to increase life expectancy but do not treat the cause. Preventive measures are also limited to a minimum, since the congenital defect is caused by spontaneous mutation and usually becomes noticeable only after birth. Therefore, the actual treatment focuses on surgeries that, for example, restore vision or stabilize the joints.
Causes
De-Barsy syndrome, also called De-Barsy-Moens-Dierckx syndrome, is congenital and thus cannot be clearly attributed to a cause. However, it is assumed that a change in the genetic material is responsible for the development. 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 proteins, in turn, strengthen the cell body walls. These, in turn, strengthen the cell body envelope and are involved in cell division. In De-Barsy syndrome, the gene is defective, as a result of which mentioned processes are disturbed. The development that leads to the change in the genetic material is purely accidental and usually occurs without prior disease of the parents. This spontaneous mutation makes treatment and prevention enormously difficult. Identifying symptoms is also a lengthy task due to the diversity of De-Barsy syndrome.
Symptoms, complaints, and signs
De-Barsy syndrome is associated with a number of distinct symptoms. For example, there may be various skin symptoms such as itchy skin and a skin lesion. Furthermore, in many cases a skull blister develops, i.e. an accumulation of fluid under the skin layers. Furthermore, eczema, rashes and acne may occur. In the eye area, foggy vision and blurred vision may occur, up to complete loss of vision. More rarely, hip dislocations with no apparent cause, short stature, or protruding ears occur. External signs of De-Barsy syndrome include downward palpebral fissures, a small mouth, and a broad, relatively flat bridge of the nose. Furthermore, there are hyperextensible joints, increased tendon reflexes, and growth retardation. These symptoms appear in the womb and are often associated with reduced mental development. In childhood, the disease can be recognized by large fontanelles, corneal opacities and cataracts. Due to the diversity of possible symptoms and complaints, a definite assignment of the disease is only possible through a comprehensive diagnosis.
Diagnosis and course
Diagnosis of De-Barsy syndrome is made by a variety of examinations. First, a medical history is taken with the patient himself or a parent to find out the details. Among other things, it is determined which symptoms occur and since when they occur as well as the general mental state of the patient. Previous illnesses or genetic defects in the family are also determined during this interview and included in the examination. If the physician already has a concrete suspicion after the anamnesis, a skin biopsy is usually performed. Here, a tissue sample is taken from the skin and evaluated dermatopathologically. Depending on the type and severity of the disease, either a simple punch biopsy or a more complex incisional biopsy may be performed. From this, blood tests and a CT scan may be performed, both to rule out other diseases and to determine the severity of the de-Barsy syndrome. The course of the disease in de-Barsy syndrome is usually negative. If the disease is detected early, eye surgery as well as physiotherapeutic measures can be performed to correct the defects. Nevertheless, affected individuals usually have a lower quality of life due to limited mobility and reduced vision.However, there are now some medications that have been developed specifically for the treatment of De-Barsy syndrome and specifically target known symptoms such as narrowed blood vessels and weak bones.
When should you see a doctor?
When symptoms such as itchy skin, rashes, and other signs of De-Barsy syndrome are noticed, a visit to the doctor is recommended. In childhood, the condition is also noticeable in the form of large fontanelles, corneal opacities, and a cataract. Parents who notice such symptoms in their child should talk to their pediatrician or family doctor immediately. Depending on the symptoms, a specialist for hereditary diseases, the ophthalmologist or the orthopedist can also be consulted. If an accident or fall occurs due to the deformities, it is best to contact the emergency medical services. In the best case, the affected child is taken directly to the nearest hospital. De-Barsy syndrome must in any case be clarified by a doctor and treated if necessary. In most cases, the child needs assistance with everyday tasks at an early age. If signs of mental suffering become apparent – for example, if the child is bullied at kindergarten or school – a psychologist should also be consulted.
Treatment and therapy
Treatment of de-Barsy syndrome focuses on symptoms. For example, gymnastic and physiotherapeutic measures are initiated to prevent contractures. Vision can also be strengthened by various measures such as surgery or, in advanced stages, by a visual aid. In addition, special drugs called bisphosphonates are used. These strengthen the bones and joints and thus prevent the aforementioned fractures and contractures. Depending on the severity of the disease, acetylsalicylic acid may also be prescribed. The drug prevents blood clots and thus prevents heart attacks and strokes, which can significantly extend life expectancy. The actual cause of De-Barsy syndrome cannot yet be treated. However, it is possible to contain the condition with early treatment and a few preventive measures.
Outlook and prognosis
In general, De-Barsy syndrome cannot be treated causally because it is a congenital disorder. Therefore, patients always rely on symptomatic therapy to alleviate symptoms and thereby improve their quality of life. If De-Barsy syndrome is not treated, those affected suffer from various skin complaints. In many cases, these lead to inferiority complexes or lowered self-esteem, and children may also suffer from bullying or teasing. Often, this also leads to psychological upsets or depression. Likewise, there is a significant delay in the patient’s development and mental retardation. The treatment of De-Barsy syndrome is therefore primarily based on the skin complaints and the delayed development. With the help of ointments and creams, the skin complaints can usually be well alleviated. The mental 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 daily lives. As a rule, De-Barsy syndrome does not reduce life expectancy.
Prevention
Because De-Barsy syndrome is congenital, it is not possible to prevent an onset of the disease. However, it is possible to become aware of the syndrome through prenatal screening and to prepare the necessary measures. The infant can then be operated on relatively soon after birth and given various medications. These include drugs containing a special farnesyl transferase inhibitor, which makes the blood vessels more elastic. This can potentially extend the life expectancy of the sufferer.
Follow-up
In most cases of De-Barsy syndrome, very few measures of possible aftercare are available to the affected person. Because this is a congenital disorder, it also cannot be fully treated, so follow-up always refers to purely symptomatic treatment.However, a doctor should be contacted at the first signs and symptoms of this syndrome in order to prevent further symptoms. If the affected person has a desire to have children, genetic counseling may also be useful to prevent the recurrence of this disease. In most cases, de-Barsy syndrome is treated by taking medication. In this case, the affected person should ensure that the medication is taken regularly and also in the correct dosage. If there are any questions or uncertainties, a doctor should always be contacted 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 further course of this disease. Whether there is nevertheless a reduced life expectancy of the affected person due to the De-Barsy syndrome cannot be universally predicted in this case.
What you can do yourself
De-Barsy syndrome is a congenital disease whose causes are not yet fully understood. The affected person cannot take any measures to treat the syndrome causally. The external features of the disease, which include downwardly directed palpebral fissures, protruding ears, a small or deformed mouth, and often a very broad and flat bridge of the nose, can usually be corrected with the help of plastic surgery. The often observed short stature is often accompanied by hyperextensible joints and increased tendon reflexes. Here, physiotherapy started at an early stage can help to specifically build up muscles to support the affected joints. In this way, the patient’s mobility is continuously improved and maintained. If mobility remains limited, the patient should learn to use walking aids at an early stage. Reduced vision cannot always be completely corrected by visual aids either. Depending on the extent of the visual impairment, it may be helpful for the patient to become accustomed to the use of a blind cane or other aids in good time. De-Barsy syndrome does not only affect physical development, however. Very often, those affected are also mentally handicapped, although the extent of the handicap can vary greatly. In any case, parents should pay attention to optimal early intervention in order to provide their child with the best possible educational support.
