Niemann - pick disease

Niemann - pick disease (synonym.: lipoidemia selenaherlegacy, sphingomyelins) refers to lepidotum, develops as a result of violations gliofosfato exchange and is characterized by the deposition of lipids, mostly sphingomyelin, in the cells of the reticuloendothelial and nervous systems, as well as in other organs.
The disease is inherited, the transmission mechanism autosomal recessive (see Hereditary diseases); rarely observed mainly at an early age. Equally often sick boys and girls. Initial symptoms of the disease occur in the first 6 months of life in the form of malnutrition, delayed development, progressing dystrophy. The skin have a characteristic waxy luster and color. There is an increase in lymph nodes, primarily in the abdomen, followed by the development of ascites. The accumulation of sphingomyelin in the cells of the respiratory promotes frequent inflammatory diseases of the lungs. The liver and spleen, as a rule, increased. Of the neurological symptoms first appear muscle spasms, in subsequent hypotension and areflexia. Children apathetic, lag behind in mental development, often have poor eyesight and hearing.
The forecast is unfavorable, death usually occurs in the first 2 years of life. Specific treatment is not.
Cm. also Lipoids.