When Brown-Vialetto-Van Laere syndrome is a disease that is inherited. As part of the disease, the function of various caudal nerves in the brain is lost. In addition, the affected patients lose their sense of hearing. In addition, some of the sick people develop what is known as spinal atrophy of the muscles.
What is Brown Vialetto Van Laere Syndrome?
Brown-Vialetto-Van Laere Syndrome was named in honor of the medical professionals who first described the disease according to scientific standards in 1894, 1936 and 1966. These doctors are Vialetto, Brown and van Laere. The disease is extremely rare, with the exact prevalence of Brown-Vialetto-Van-Laere syndrome estimated to be less than 1 in 1,000,000.
In about 50 percent of affected patients, inheritance is autosomal recessive. So far, only about 60 cases have been diagnosed. It also shows that Brown-Vialetto-Van-Laere syndrome occurs around three times more often in female patients than in men. The disease is also referred to synonymously as riboflavin transporter deficiency and for this reason may also be given the abbreviation RTD.
In addition to the main symptoms, the disease often manifests itself in inadequate breathing in the affected patient. In addition, so-called sensorineural hearing loss results in many cases. Progressive ponto-bulbar paralysis is also possible.
Causes
Medical research has come to the clear conclusion that Brown-Vialetto-Van-Laere syndrome is a hereditary disease. As a result, certain genetic defects or mutations are responsible for the development of the syndrome in the sick people. In principle, doctors differentiate between two different types of disease based on different gene mutations.
The first type of Brown-Vialetto-Van-Laere syndrome results from a genetic mutation on a gene called SLC52A3, while the second type of disease results from mutations on the SLC52A2 gene. In addition to the responsible genes, the exact locations on the respective gene segments are also known. Both genes have in common that they play an important role in the coding of riboflavin transporter proteins.
However, their significance in the human nervous system has not yet been conclusively clarified. Patients suffer from loss of neurons in certain nerves in the brain that are located near the medulla oblongata. The anterior horn cells of the spinal cord are also affected by degradation phenomena. Both symptoms show up in people with Brown-Vialetto-Van-Laere syndrome in early childhood.
Symptoms, ailments & signs
Brown-Vialetto-Van-Laere syndrome usually begins in newborns or children. However, the first symptoms do not appear in some of the people until the end of their second decade of life. Initially, patients usually lose their sense of hearing on both sides. The reason for this can be found in most cases in an increasingly pronounced sensorineural hearing loss.
In addition, various nerves in the brain lose their function, leading to so-called motor failures. For example, the accessory nerve, the facial nerve and the so-called glossopharyngeal nerve are affected by these nerves. In addition, the sick people sometimes suffer from special anterior horn signs in the extremities and general weakness of the limbs.
Many patients suffering from Brown-Vialetto-Van-Laere syndrome have difficulty breathing, have sagging facial skin and what is known as retinitis pigmentosa. They may also develop optic atrophy and epileptic seizures. The bulbar paralysis is primarily responsible for the weak strong muscles of the face. Brown-Vialetto-Van-Laere syndrome progresses relatively quickly. Other symptoms of the disease include dysphagia, ankle contractures, and tremor.
Diagnosis & course
Brown-Vialetto-Van-Laere syndrome is diagnosed by a specialist doctor. Given the low prevalence of the disease and the fact that it is a hereditary disease, Brown-Vialetto-Van-Laere syndrome is usually studied in a specialist center for genetic diseases. Since the first symptoms usually show up in children, the guardians play a crucial role in diagnosing the disease.
You will first contact a pediatrician and then be looked after by appropriate specialists. A family history may provide helpful information about relevant illnesses in the relatives. The investigation of Brown-Vialetto-Van-Laere syndrome is based on the typical clinical symptoms.
A combination of visual examinations, hearing tests and neurological examinations is used to quickly diagnose the disease. A genetic analysis confirms the presence of Brown-Vialetto-Van-Laere syndrome. Nevertheless, the attending physician must carry out a differential diagnosis, excluding Nathalie syndrome, Fazio-Londe syndrome, Joubert syndrome, amyotrophic lateral sclerosis and Madras motor neuron disease.
Complications
Brown-Vialetto-Van-Laere syndrome causes severe hearing loss in those affected. The restrictions occur in both ears and can lead to complete loss of hearing. The motor skills of the patient are also severely restricted by the Brown-Vialetto-Van-Laere syndrome.
The restrictions are heavily dependent on the affected regions in the brain. In most cases, however, this leads to restrictions in movement and also to mental health problems. Epileptic seizures can also occur in the patient. This significantly reduces the quality of life.
The limbs are weakened and can usually no longer be moved as usual. Physical or sporting activities are also only possible to a limited extent. It is not possible to treat the cause of Brown-Vialetto-Van-Laere syndrome. The treatment is aimed specifically at relieving and reducing symptoms.
Most of the time, the syndrome leads to a reduced life expectancy and thus more rapid death. With the help of medication, the progress can only be stopped. It is not possible to predict how much life expectancy will be reduced by Brown-Vialetto-Van-Laere syndrome.
When should you go to the doctor?
Since Brown-Vialetto-Van-Laere syndrome does not heal itself, a doctor should definitely be consulted if the symptoms of this syndrome occur. This can avoid further complications. As a rule, a doctor should be consulted if there is a loss of hearing for no specific reason or without injury. This loss is usually very sudden and cannot be restored by Brown-Vialetto-Van-Laere syndrome. Those affected are then dependent on a hearing aid.
A visit to a doctor is definitely necessary even in the event of motor failures or difficulties. Brown-Vialetto-Van-Laere syndrome also manifests itself in weak limbs in some cases. Urgent treatment is necessary if the syndrome already leads to epileptic seizures. In the worst case, these can lead to the death of the person concerned.
The first examination for Brown-Vialetto-Van-Laere syndrome can be done by a general practitioner. Unfortunately, since there is no cure, the symptoms can only be limited. This is done with the help of medication. No further special therapy is necessary.
Treatment & Therapy
Brown-Vialetto-Van-Laere syndrome is treated with medication based on the symptoms. The patient receives immunoglobulins and steroids. The active ingredients temporarily slow the progression of the disease. The prognosis is very different in individual cases. After the first manifestation of the symptoms, around 30 percent of those affected live more than ten years. In around 50 percent of patients, their state of health deteriorates increasingly.
Outlook & forecast
Brown-Vialetto-Van-Laere syndrome cannot be completely cured. For this reason, only symptomatic treatment can take place, which, however, cannot alleviate or limit all symptoms.
The affected person is dependent on a lifelong intake of medication. The hearing problems can no longer be treated either, but in some cases they can be alleviated by using a hearing aid. As a rule, the patient’s state of health worsens as the disease progresses, with the patient’s life expectancy being significantly reduced and reduced. Most patients live about 15 years after diagnosis, although this life expectancy depends very much on the patient’s state of health.
If Brown-Vialetto-Van-Laere syndrome is not treated, life expectancy is drastically reduced and the patient dies prematurely. Due to the restricted motor skills, most patients are dependent on the help of other people in their everyday life. In the worst case, the affected person can die from epileptic seizures if the seizure is not recognized and treated in good time. The prognosis for this syndrome is very poor.
Prevention
Brown-Vialetto-Van-Laere syndrome cannot be prevented because the disease is congenital. It is therefore particularly important to diagnose the syndrome in children with the disease at an early stage. Starting therapy early often delays the progression of symptoms for a certain period of time. It can also improve the prognosis of the disease.
Aftercare
In the case of Brown-Vialetto-Van-Laere syndrome, in most cases the patient has only very limited options for follow-up care. Since this is a hereditary disease, it cannot be treated causally, but only symptomatically. For this reason, a complete cure is usually not possible, so that those affected are dependent on lifelong therapy.
Typically, the patient must take medication for their entire life to relieve the symptoms. However, due to the Brown-Vialetto-Van-Laere syndrome, the life expectancy of the person affected is significantly reduced, so that the state of health deteriorates significantly. Eventually those affected die of suffering from the syndrome, which cannot be completely cured.
In the event of an epileptic fit, a doctor must be called immediately or the hospital visited. If such an attack is not treated, in the worst case scenario, patients can die from the attack. Since the Brown-Vialetto-Van-Laere syndrome is not infrequently also associated with psychological complaints, psychological treatment is often necessary. Contact with other sufferers of the syndrome can also have a positive effect on the disease, as this can lead to an exchange of information.
You can do that yourself
The possibilities for self-help are very limited with Brown-Vialetto-Van-Laere syndrome. There are not enough measures that would result in a cure. For this reason, the focus in everyday life is on improving the quality of life.
The disease is usually diagnosed immediately after birth and should be treated medically. Since children are already growing up with the health restrictions, they should be informed honestly and in good time about their illness and its consequences.
Dealing openly with the disease is helpful in everyday life in order to be able to answer questions, avoid misunderstandings and not feel excluded from society. Contact with other children who also have health problems can be encouraged at an early age. At the same time, dealing with healthy children must be cultivated. This way, a mutual exchange takes place and the feeling of exclusion is avoided.
If the child suffers from the health problems or shows behavioral affections, additional psychological support should be sought. Talking about the emotions that are present can be helpful in coping with the condition.
Since Brown-Vialetto-Van-Laere syndrome is associated with various restrictions on sporting and recreational activities, activities that can be carried out without problems should be encouraged. This promotes the joy of life and strengthens well-being.
