Niemann-Pick disease

DEFINITIONS

Niemann-Pick disease is an inherited condition in which there is a deficiency of a specific enzyme resulting in accumulation sfingomielin (the result of fat metabolism) or there is an abnormal accumulation of cholesterol.

CAUSE

Gene responsible for Niemann-Pick disease is recessive, a person must have 2 genes from both parents.
The disease is most common in Jewish families.

SYMPTOMS

Niemann-Pick disease has five forms or more, depending on the weight or the weight of the enzyme deficiency of cholesterol accumulation.

In the juvenile form, accompanied by severe enzyme deficiency, there is no enzyme.
Nervous system disorders occur heavy because the nerves can not use sfingomielin to produce myelin (nerve sheath).

The children with this disease have a growth of fat in the skin, has dark pigmentation areas and have an enlarged liver, spleen and lymph nodes.
These children may also experience mental retardation (mental retardation).

These children usually have anemia with white blood cell count and low platelets, which makes them susceptible to infection and easy bruising.

Diagnosis

Some forms of Niemann-Pick disease can be diagnosed in the fetus by taking an example vilus chorion or amniosintentesis (examination of amniotic fluid).

Niemann-Pick Tues

After birth, the diagnosis can be established by liver biopsy.

TREATMENT

Niemann-Pick disease can not be cured, and the children who suffer from this disease tend to die from infection or dysfunction of the central nervous system progressive.