Intracellular lipoids. Niman-peak disease

Hereditary disease of lipid metabolism, in which there is accumulation of sphingomyelin substance in the brain, liver and some other organs. This disease was first described by Niman in 1914. In 1922, Peak described in detail all manifestations of the disease. To date, approximately 100 cases of Niman-Pick disease have been described in general.

The fact that Niemann-Pick disease is hereditary is confirmed by the twin diseases described in the literature and members of the same family, as well as by the birth of sick children in the case of blood relatives of the parents. The type of inheritance of this disease has not yet been established, since children with Nyman-Pick disease die in early childhood. It is assumed that the disease is transmitted by an autosomal recessive type of inheritance.

In the case of Nyman-Pick disease, lipid metabolism is impaired, which leads to the accumulation in the organs and tissues of the body of a substance such as sphingomyelin. The disease is manifested primarily in early childhood and is characterized by a malignant course. At the beginning of the disease, the child refuses food, periodically

appears vomiting, the sizes of the liver and spleen increase very early, hypotrophy develops. The appearance of signs indicating the defeat of the nervous system also allows one to suspect the disease of Niemann-Pick. Spastic paresis can be replaced by a general decrease in muscle tone, as well as lethargic reflexes, which, when examined, become difficult to evoke. Progressive defeat of the nervous system leads to a sharp lag in the child's neuropsychological development, the appearance of deafness and blindness. In 1/3 of the children, the examination of the fundus reveals characteristic changes in the form of a dark red spot. The baby's skin acquires a brownish hue. The resistance of the body to various infections decreases: children are susceptible to lung diseases( pneumonia), ears( otitis).The prognosis for such a disease, as a rule, is unfavorable. There is an opinion that the Nyman-Pick disease has several variants of the course. In some forms, the nervous system is predominantly affected, while in others, the symptoms of nervous system damage are minimally expressed. When examining the blood, anemia is detected, a reduced number of platelets( blood plates).Radiographic examination reveals softening of the bone tissue.

Children with this disease, despite all attempts at treatment, rarely live to 3 years of age. A slightly more favorable prognosis for those forms of the disease that occur without affecting the central nervous system.