Amavrotic idiocy

Amavrotic idiocy is a hereditary disease characterized by progressive loss of vision and intellectual degradation in combination with other symptoms of nervous system damage. The disease was first described in 1881 by the American ophthalmologist Tau. Is he.noted the appearance of specific changes in the fundus of the patients. To date, more than 500 cases of this disease have been described in the literature. It is assumed that the amaurotic idiocy is transmitted by an autosomal recessive type of inheritance. There is a more frequent development of amaurotic idiocy in the Jewish population. With this disease, there is an increase in the brain and a diffuse atrophy of its individual regions. In most cases, the cerebellum and occipital lobes of the cerebral hemispheres are affected. In addition, thinning of the optic nerves is also noted. In severe cases, the nerve fibers of their membrane( demyelination) are lost and many connections between nerve cells are destroyed.

Depending on the emerging manifestations, the following basic forms of amaurotic idiocy can be distinguished:

1) early childhood form - Tay-Sachs disease;

2) the late children's form of Yansky-Bilynovsky;

3) the youthful form of Shpilmeyer-Vogt;

4) the late form of Kufs.

Cases of congenital amavrotic idiocy are also described. The most detailed manifestations of the early childhood form of Tay Saks. The disease is often of a family nature and begins at the age of 4-6 months. The child, previously active, gradually loses the static and motor functions, loses interest in the environment, ceases to play. Early vision loss is detected, while the child can not fix a glance at others, does not look at shiny objects, fast enough blindness develops. At the same time there is a decrease in intelligence to the degree of idiocy. Quite often deafness develops. Motor impairments eventually lead to complete immobility. With Tay-Sachs disease, there is a symptom of an increased reaction to sound stimuli, even after a simple touch, the children start. Often there are cramps. In the final stage of the disease, a picture of decerebrate rigidity develops. At the height of the disease, signs of damage to the organ of vision are revealed. The presence of characteristic changes on the fundus allows us to consider the diagnosis of Tay-Sachs disease as unquestionable. Other characteristic manifestations of amaurotic idiocy are pathological reflexes, impaired swallowing, violent laughter, involuntary movements of eyeballs, strabismus, cerebellar disorders( impaired coordination of movements, trembling of hands, etc.), lower body temperature, increased sweating, swelling, obesity anda lot others. Tay Sachs disease lasts an average of 1.5-2 years, leading to severe exhaustion of the child, complete immobility. Sick children are more likely to die at the end of the second year of illness.

The late Yansky-Bilynovsky form for children usually begins in the fourth year of a child's life. In this case, the progression of the disease is slower than in the case of a pediatric form. The disease is characterized by manifestations, in many respects similar to the early childhood form of amaurotic idiocy. The duration is 3-4 years after the first signs of amaurotic idiocy appear and end in a lethal outcome. Unlike the early pediatric form of amavrotic idiocy in the Jansky-Bilinovsky disease, there can be no specific changes in the fundus, although atrophy of the optic nerves is constantly noted.

The youthful form of Shpilmeyer-Vogt begins at the age of 6-10 years, sometimes a little later. It is characterized by a slowly progressive course and leads to the death of patients aged 18-20 years. With a youthful form, the decrease in the psyche does not reach the degree of idiocy, and the increasing fall in vision does not always lead to complete blindness. Movement disorders are less pronounced. Symptoms of cerebellar involvement are more characteristic( violation of coordination of movements, trembling of hands, etc.).Often observed obesity. There may be convulsive seizures, sometimes predominant over all other signs of the disease. On the fundus there are usually characteristic changes. A distinctive feature of amavrotic idiocy from similar syndromes and diseases is the steadily progressing nature of the disease, the specific nature of changes on the fundus.

The late form of Cofsa is usually observed in adulthood.

Treatment of amavrotic idiocy should be initiated before the development of severe disorders from the nervous system. It is expedient to use enzymes, blood transfusions, plasma, the use of vitamins. As a preventive measure, parents who have a sick child can be refrained from further childbearing.