What is Canavan van Bogart-Bertrand disease? What are the causes of the development of pathology? What are the main manifestations of the disease? What is the diagnosis and treatment of the disease? All this will be discussed in our publication.
General information
Canavan van Bogart-Bertrand disease was first described in 1931. The study of this rare genetic pathology at that time was carried out by an American neuropathologist - Mirtel May Kanawan. Actually, an ailment was named in honor of this researcher.
It should be noted that the disease occurs among newborns around the globe. However, most of the pathology affects the Jewish population. In particular, among the Ashkenazi people, the probability of having a baby with such a genetic ailment is about 2%.
Causes of the disease
Canavan van Bogart-Bertrand disease is the result of mutations that occur with a gene known by the acronym ASPA. The latter is part of the human genetic code and is responsible for the synthesis of the specific enzyme aspartoacylase. The substance takes part in the formation of aspartic, glutamic and acetyl aspartic acids, which are concentrated in the brain and take part in the processes of the organ. The significance and role of these acids are not fully understood. However, the researchers found that a change in their concentration in the body leads to significant genetic disorders.
Active acids are involved in the functioning of nerve cells in the brain. An excess of such substances has a devastating effect on the myelin sheaths of tissues. Against the background of such processes, microscopic swelling of neurons occurs and toxic effects on the brain as a whole are observed. All this leads to the development of severe Canavan disease. The disease is observed among children born from parents who are carriers of a defective gene.
Symptomatology
What are the signs of leukodystrophy (Canavan disease)? When a baby is born for some time, it is absolutely no different from healthy children. The first manifestations of the disease begin to make themselves felt in a few months. At first, the child has slight developmental delays. Acquired motor skills become uncontrollable. Inhibition of physical activity is noted. Muscle tone is gradually reduced .
During the first six months after birth, the baby experiences difficulty swallowing, which becomes a significant problem during feeding. With the progressive development of the disease, macrocephaly is formed - a pathology, the main manifestation of which is the disproportionate growth of the head in relation to the rest of the body. In the absence of timely diagnosis and treatment, progressive Kanavan disease in a child causes epileptic seizures.
A symptom of pathology is often the inability of the baby to independently hold his head. Often the effect of arbitrary twitching of the limbs is noted. In some cases, the development of the disease is the cause of deterioration and even complete loss of vision.
Diagnostics
Timely detection of Canavan disease is a rather difficult task. Indeed, a wide range of symptoms that are observed with a whole host of other children's pathologies of a congenital and acquired nature are characteristic of an ailment. However, at the first suspicion of the presence of such a genetic malfunction, you can confirm the diagnosis using the following methods:
- analysis of the composition of blood and urine;
- Magnetic resonance imaging;
- CT scan;
- conducting a special test for gene mutations.
With the development of Kanavan disease, a blood and urine test allows diagnosticians to identify an increased concentration of acetyl aspartic acid in the body, which is a defining sign of a specific gene mutation. Despite its simplicity and accessibility, the method is quite effective and informative.
As for magnetic resonance imaging, the procedure for newborns looks problematic. Due to the small age of patients, medical devices may produce inaccurate results. Therefore, confirmation of the diagnosis sometimes requires repeated studies that show degenerative changes in the structure of brain neurons, as well as deformation of mitochondria. Similar failures can also be noticed by computed tomography.
Currently, diagnostic solutions are often practiced, which make it possible to establish the likelihood of developing a Canavan disease in a baby even in the process of bearing the mother. For these purposes, both parents submit bodily fluids for analysis to identify signs of the presence of modified genes.
Canavan Disease - Treatment
There is no universal medicine to combat the disease. In each specific clinical case, an individual course of treatment is prescribed. In this case, therapy is not able to completely eliminate genetic disorders, but is aimed only at maintaining the vital functions of the body.
The basis of treatment for Kanavan disease is the impact on the body of lithium nitrate. The relative effectiveness of the solution is confirmed by the results of special laboratory tests on animals, which introduced the mutated gene.
If we talk about other experimental methods of therapy, it is also worth noting the introduction of liposomes with the aspartoacialase gene into the body of a sick child. The positive effect of such treatment was observed during tests involving dozens of sick babies. Unfortunately, the application of the technique did not completely eliminate the negative consequences of the development of pathology. However, at the moment, this solution is considered the most effective in the fight against the development of Kanavan disease, since it makes it possible to slow down the course of destructive processes under the influence of genetic failures.
Forecast
Given the above, it is easy to guess that Kanavan disease belongs to the category of ailments with a high risk of death. Most often, death occurs with the progressive development of pathology during the first few years of life. In rare cases, doctors manage to delay a sad outcome for several decades.
The use of expensive methods and the introduction of gene therapy by doctors makes it possible for parents of a child to count on a long-term extension of the baby's life. In medical practice, cases of the complete disappearance of the symptoms of the disease have been repeatedly recorded. However, in the subsequent pathology again made itself felt.
Prevention
Preventive decisions aimed at the well-being of the unborn child include the following:
- Counseling parents who plan to conceive a baby. This primarily concerns representatives of ethnic groups, among which there are cases of specific gene mutations. This approach allows couples to determine the risk of having a sick child.
- Testing the gene set of an unformed baby during development in the womb. The preventive method allows you to establish an increased level of active acids in the body, which will be concentrated in the amniotic fluid.
Finally
As you can see, Kanavan disease is a dangerous genetic disease. Pathology belongs to the category of common cerebral ailments, which affect newborns. The danger of the disease lies not only in changes in the functioning of the brain, but also in physical retardation. All this makes a sick child experience everyday difficulties and does not make it possible to feel like a full member of society.
Unfortunately, at the moment the disease is incurable. However, the introduction of new experimental methods of therapy in the future gives hope for finding an effective medicine.