The Louis Bar Syndrome is a hereditary multi-system disease. Almost all organs are affected by the disorders. The life expectancy of those affected is significantly reduced.
What is Louis Bar Syndrome?
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At the Louis Bar Syndrome it is a hereditary systemic disease. This leads to neurological failures, frequent infections and malignant degeneration of various body cells. The condition is very rare, affecting 1 in 40,000 newborns. As an inherited disease, it is one of the so-called phacomatoses. Phacomatoses are a group of diseases with skin malformations and nerve damage. It is not a uniform group of diseases, but a collective term.
Furthermore, the disease is also counted among the chromosome break syndromes, because in its course there are various chromosome breaks. In neurological practice, Louis-Bar syndrome is classified in the group of heteroataxias (inherited ataxias). Life expectancy is clearly limited. The syndrome usually ends fatally in the third decade of life. However, individual patients have also reached a significantly older age. The disease was first described by the Belgian doctor Denise Louis-Bar in 1941. Because of this, the syndrome was named after Denise Louis-Bar.
causes
The cause of Louis Bar syndrome is due to a defect in the ATM gene on chromosome 11. 400 different mutations have been detected on this gene. It codes for a large nuclear protein that is found in all cells. The protein is known as serine protein kinase ATM and is responsible for tracking down DNA damage, especially those that have to do with chromosome breaks. ATM is responsible for the production of DNA repair proteins by sending out appropriate signals.
It can also cause cell death (apoptosis) in the case of major DNA damage. It also regulates other genes that play a role in cell division. Many neurological and immunological symptoms can be traced back to a misdirected stress response. The syndrome is inherited as an autosomal recessive trait. Heterozygous carriers are healthy, but often have an increased susceptibility to tumor formation. Overall, the pathogenesis of the individual symptoms is not yet fully understood.
Symptoms, ailments & signs
Louis Bar syndrome manifests itself in many different symptoms. After an initially undisturbed development, the first motor disorders in the form of ataxias (unsteady gait) and balance disorders often appear in early childhood. Later on, there are abnormal movements and muscle twitching. Furthermore, there is a hunched posture and tremor (shaking). The eye movements are also disturbed.
Head and eye movements are no longer coordinated. The ability to speak deteriorates and the language sounds increasingly slurred. Telangiectasias occur from the age of three to five. These are enlargements of the small arteries on the face and on the conjunctiva of the eyes and on the ears. The skin of the face tightens, the hair turns gray and there are further signs of premature aging. In addition, malpositions of the feet or curvatures of the spine develop.
Much of the symptoms are related to immune disorders. Frequent infections of the respiratory tract and constant pneumonia occur. It was found that mainly the immunoglobulins IgA and IgG2, but sometimes also IgG4 and IgE, are missing. With an initially normal mental development, an increasing mental decline takes place from the age of ten. In the course of the second decade of life, the motor problems worsen so much that the adolescents have to rely on a wheelchair.
During puberty, sexual development is delayed with the development of short stature and hypogonadism.The risk of developing malignant changes in the form of lymphomas, leukemia and other carcinomas is between 60 and 300 times more common than in the normal population.
Diagnosis & course of disease
A diagnosis of Louis-Bar syndrome is easy to make after the characteristic telangiectasias on the conjunctiva of the eyes have appeared in addition to the already existing motor abnormalities. The diagnosis is confirmed by the detection of an increased concentration of the alphafetoprotein AFP. In the cell cultures, frequent chromosome breaks are particularly noticeable in chromosomes 7 and 14. Magnetic resonance imaging reveals atrophy of the cerebellum.
Complications
The Louis Bar syndrome has a very strong reduction in life expectancy. Above all, the parents or relatives suffer from psychological complaints and also from depression and therefore need psychological treatment. The patients themselves suffer from muscle twitching and disorders of balance.
There is also limited ability to speak and therefore severe restrictions in everyday life. The airways are also clearly affected by Louis Bar syndrome, which often leads to inflammation and other disorders of the immune system. Furthermore, those affected are affected by short stature and usually also suffer from various types of cancer.
As a rule, it cannot be generally predicted whether the Louis Bar syndrome will also lead to mental retardation. Unfortunately, it is not possible to treat Louis Bar Syndrome causally and causally. For this reason, the treatment takes place exclusively symptomatically and aims to increase the life expectancy of the patient. Various interventions and therapies are necessary for this, but these do not always lead to success. In most cases, Louis Bar syndrome limits life expectancy to approximately thirty years.
When should you go to the doctor?
If adolescent children show a delay in development in direct comparison to their peers, the observations should be discussed with a doctor. If there are motor peculiarities, if there are gait insecurities or difficulties in locomotion, a doctor's visit is advisable. Balance problems, hunched posture, problems with the spine or tremors in the limbs should be examined and treated by a doctor. The person concerned needs medical help in the event of impaired speech, coordination problems with head and eye movements and behavioral problems.
Problems with breathing, infections, a general feeling of illness and internal weakness should be clarified. Consult a doctor if the skin is abnormal, the skin on the face is unusually tight or the arteries in the face expand. Misalignments of the feet are further signs of an irregularity. You must have a medical examination so that the cause can be determined and treatment can be initiated.
Without timely care, there is a risk of permanent postural damage and further complications that can lead to lifelong consequences and impairments. A visit to the doctor is necessary if the scalp hair turns gray prematurely, if there is an early deterioration in mental possibilities or if inflammations of the respiratory tract develop repeatedly. If repeated pneumonia occurs, the observations should be discussed with a doctor.
Therapy & Treatment
Louis Bar syndrome cannot be treated causally because it is a hereditary condition. Only symptomatic therapies are possible. This requires constant antibiotic treatment of the frequent infections. The administration of vitamins has proven to be helpful. It is also important to have the usual vaccinations. When vaccinating, however, it is important to ensure that no live vaccines are used.
Since there is an increased mutability, the use of radiation therapy should be strictly avoided. X-rays should also not be used for diagnostics. Support measures such as occupational therapy and speech therapy should be initiated at an early stage. Physiotherapy measures are also necessary. Orthopedic aids can improve mobility.
Furthermore, there must be constant monitoring of the occurrence of malignant tumors. Radiation treatment of leukemia and lymphoma is not possible due to the special radiation sensitivity. The prognosis of the disease is poor, but intensive medical care can improve it. As a rule, Louis Bar syndrome is fatal in the third decade of life. In isolated cases, however, patients have also reached a significantly older age.
Outlook & forecast
Louis Bar syndrome has an unfavorable prognosis. The person has a genetic disease. In addition, there is an increased susceptibility to the formation of tumors. Legal requirements prohibit interference with and modification of human genetics. Because of this, the cause of the syndrome cannot be eliminated. The patient is bound to regular check-ups for life so that abnormalities and irregularities can be detected as early as possible.
The symptoms and the fact that the patient is more susceptible to cancer represent a strong emotional burden for the patient. In addition to the development of various types of cancer, a mental disorder can develop. Overall, life expectancy for people with Louis Bar syndrome is significantly reduced. In most cases, those affected reach an age of around thirty. The detailed development depends on the individual characteristics of the individual complaints.
An improved course can be seen in patients who have a healthy lifestyle and who pay attention to their mental stability as far as possible. In addition, learned practices can be used independently in therapies to promote quality of life. This supports mobility and makes it easier to cope with everyday life. The prospect of a reduced life expectancy poses a challenge for those affected and their relatives. Dealing with the disease is therefore not irrelevant for further development.
prevention
As Louis Bar syndrome is a hereditary disease, there are no recommendations for its prevention. However, if there has been a family history of this condition, genetic counseling should be sought. A mutation in the ATM gene can be detected during prenatal diagnostics.
Aftercare
People affected by Louis Bar syndrome suffer from a number of different complaints and complications, all of which can generally have a very negative effect on the quality of life of the person concerned. Therefore, aftercare focuses primarily on managing the imbalances. As a result, those affected suffer from movement restrictions and are mostly dependent on family help in everyday life.
In general, the disease cannot be cured, so aftercare is primarily aimed at containing the symptoms and complications that arise and ensuring a certain level of quality of life in everyday life. Depending on the severity of the severity, the disease can be difficult for those affected, which is why it is sometimes advisable to seek professional help from a psychotherapist. Exchanging knowledge with other affected persons can also promote self-esteem when dealing with Louis Bar syndrome.
You can do that yourself
Louis Bar Syndrome is a serious disease that is often fatal. Since caring for a sick child is associated with stress and anxiety, parents of affected children usually need therapeutic support. Many parents also take part in self-help groups or get more information about the disease by visiting a specialist clinic for hereditary diseases.
The sick child usually has to be treated in hospital. Any accompanying measures are limited to making the child's hospital stay as pleasant as possible. This is achieved because both relatives and doctors are available to answer questions or problems. If the outcome is positive, the malformations that have arisen must be corrected by beginning occupational therapy early on. At home, these measures can be supported by individual training. Parents should speak to the responsible physiotherapist or a sports doctor about this. If speech therapy is initiated, parents should primarily watch out for unusual symptoms.
Close medical checks ensure that any malignant tumors can be recognized and treated immediately. The affected children often need psychological help later in life, as life expectancy and quality are significantly reduced in Louis Bar syndrome.
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