Niemann Pick Disease
Niemann Pick Disease is a hereditary disease in which there is a deficiency of a special enzyme that results in the accumulation of sphingomyelin (the result of fat metabolism) or there is abnormal accumulation of cholesterol.
Causes of Niemann Pick
The genes responsible for Niemann Pick are recessive, one must have two genes from both parents. The disease is most common in Jewish families.
Symptoms of Niemann Pick
Niemann Pick has five or more forms, depending on the severity of enzyme deficiency or the severity of cholesterol accumulation. In severe juvenile forms with enzyme deficiency, there is no enzyme at all. Severe nervous system disorders occur because nerves can not use sphingomyelin to produce myelin (nerve sheath).
Children with this disease have fat growth in the skin, have a dark pigmentation area and experience enlarged liver, spleen and lymph nodes. These children can also experience mental retardation (mental retardation). These children usually have anemia with low white blood cells and platelets, which make them susceptible to infection and bruising easily.
Diagnosis of Niemann Pick
Some forms of Niemann Pick can be diagnosed in the fetus by taking samples of chorionic villi or amniocentesis (examination of amniotic fluid). After birth, the diagnosis can be established by performing a liver biopsy.
Treatment of Niemann Pick
Niemann Pick is untreatable, and children with this disease tend to die from progressive infections or functional disorders of the central nervous system.