Intracellular lipidoses .Niemann - Pick disease
hereditary disorder of lipid metabolism, which occurs when the accumulation of sphingomyelin substance in the brain, liver and certain other organs.For the first time the disease was described by Niemann in 1914. In 1922, the peak described in detail all the manifestations of the disease.Until now generally described about 100 cases of the disease Niemann-Pick.
What Niemann-Pick disease is inherited, evidenced in the literature illness twins and members of the same family, as well as the birth of sick children in the case of kinship parents.Set the mode of inheritance of this disease so far failed, as children with NPD disease die in early childhood.It is assumed that the disease is transmitted in an autosomal recessive inheritance type.
When NPD disease is a disturbance of lipid metabolism, which leads to the accumulation in organs and tissues of the body a substance such as sphingomyelin.Disease manifested mainly in early childhood and is characterized by malignant course.At the beginning of the dise
appears vomiting, early increase in liver and spleen size, growing malnutrition.The appearance of signs indicating pas defeat of the nervous system, also allows to suspect the disease Niemann-Pick.Spastic paresis may be replaced by a general decrease in muscle tone and reflexes, lethargy, which are caused when a child is difficult to survey.The progressive damage to the nervous system leads to a dramatic lag in child neuro-psychological development, appearance of deafness and blindness.In 1/3 children with fundus examination revealed characteristic changes in the appearance of a dark red spots.A baby's skin takes on a brownish tint.It reduces the body's resistance to various infections: children exposed to diseases of lungs (pneumonia), ears (otitis).The prognosis of this disease is usually unfavorable.It is believed that the NPD disease course has several options.In some forms, primarily affects the nervous system, in other - symptoms of the nervous system are expressed minimally.The examination of blood revealed anemia, reduced platelet counts (platelets).When X-ray revealed a softening of bone tissue.
Children with this disease, in spite of all attempts at treatment, rarely live up to 3 years of age.Several more favorable prognosis of the disease forms that occur without damage to the central nervous system.