Pick's disease

Peak's disease is diagnosed already in the first weeks of a child's life. The disease is characterized by a sharp weight loss and an increasing swelling of the abdomen. These symptoms are based on an increase in the liver and spleen. Nyman-Pick's disease causes an increase in lymph nodes and yellowing of the skin, in some cases leukocytosis and hypercholesterolemia are observed. The death of the patient comes as a result of increasing depletion and diarrhea. At autopsy, an obese liver, a spleen, enlarged lymph nodes are found. The disease of the peak causes the adrenal glands and all internal organs to color in a bright yellow color. This is due to the deposition of phosphatides in the tissues of cells. Lipids can be deposited in the fibers of the heart, cells of the nervous system, skeletal muscles, epithelium and organs of internal secretion.

Pick's disease has at its base a violation of lipid and phosphatide metabolism. The disease is congenital and familial, boys
And girls suffer equally often. The Niemann-Pick disease is most often observed
Among the Ashkenazi Jews, in other cases the disease occurs in
Ratio of 1: 100,000 newborns.

The disease is accompanied by severe lesions of the nervous system, a general delay in development. For the first time Pick's disease was described in 1922, to date, about 100 cases of the disease have been described. Causes
Pathologies are unknown, but one of the adverse factors is the
Kinship of the child's parents.

Clinical manifestation of the disease gets in infancy, most often in the first half of the life of the newborn. There are, however, scattered descriptions of the clinical signs of the disease in children and even young age. Gradually, the patient develops ascites, lymph nodes increase significantly. Skin covers look shiny and waxy, there are pigmented areas.

At the initial stages of the disease there are motor disorders - pyramidal signs, increased tendon reflexes and muscle tone,
Paresis of extremities. In later stages, Pick's disease is characterized by
Hypotonia of the muscles and the absence of tendon reflexes. At the child promptly
Deafness, blindness and idiocy develop. On the fundus it is often found
Atrophy of the optic nerve and spots in the macular area. With pathological anatomical studies, I often establish leukopenia and hypochromic anemia.

The prognosis for life is unfavorable - the disease is characterized by a malignant course. Most patients die in the first two years of life. The cause of death is cardiopulmonary insufficiency and intercurrent infections.

There are no effective methods for treating the Niman-Pick disease today. For treatment hormonal preparations, enzymes, liver extracts, blood transfusions are used. However, all these methods of positive
Results do not give, as well as splenectomy. In order to prevent disease,
Parents who have a child with Pick's disease are advised to refrain from
Further procreation.

The type of inheritance of this disease has not yet been established, since patients die in infancy. The disease is presumably transmitted by an autosomal recessive type. This leads to accumulation in the tissues and organs of sphingomyelin, while the skin of the child acquires a brownish-yellow hue. With different versions of the course of the disease, the nervous system is affected to varying degrees. There is a decrease in platelets, anemia, softening of bone tissue. Children with this disease, who do not have significant lesions of the nervous system, have a more favorable prognosis for life.