Gaucher's disease
Hereditary disease of lipid metabolism, characterized by the accumulation of a variety of lipids( cerebrosides) in the cells of the nervous system. Currently, two forms of the disease are known: infant and juvenile( juvenile).The latter differs from the pediatric form by a more acute course and a greater degree of involvement in the pathological process of the nervous system. For the first time this disease was described by Gaucher in 1882. It is supposed that Gaucher disease can be transmitted by two types of inheritance - autosomal dominant and autosomal recessive. The main type of transmission of this disease is the latter.
The acute form of Gaucher disease - a child's form - is characterized by a rapid and malignant course. In the period of neonatal symptoms of the disease are not observed, however, in the first months of life, one can note a delay in the child's physical and neuropsychological development. The abdomen is significantly enlarged in volume, when the examination increases the size of the liver and spleen. In connection with lung damage, there are signs of respiratory failure - periodically the baby's skin becomes cyanotic( cyanosis), there is a cough with a small amount of hard to separate sputum, which may have a rust color or contain veins of fresh scarlet blood. Quite quickly develop severe dystrophy, exhaustion. Symptoms of nervous system damage are very diverse. There is an increase in muscle tone, opisthotonus, convulsions, involuntary contraction of chewing muscles. Lethal outcome usually occurs in the first year of life of a sick child.
The chronic form of the disease( juvenile type) can develop in children of different ages. The course of the disease is long. At inspection there is a moderate or significant increase in the size of the spleen, anemia. In some cases, spots of brown appear on the skin, especially in the area of the front surface of the legs. Quite often you can notice manifestations of hemorrhagic diathesis - hemorrhages in the skin, nasal and intestinal bleeding. Radiographic examination of bones establishes the presence of osteoporosis, sometimes more coarse deformities of the thigh are revealed. Severe forms of damage to the bone system can cause spontaneous fractures, deformations of the skeleton. Death usually comes in connection with a sharp weakening of the body's immune forces and the attachment of infection.
The treatment of by Gaucher disease has hitherto been unsuccessful.
The prognosis is mainly determined by the age of the child at the onset of the appearance of the first signs of the disease. In this case, the smaller the age of the child, the heavier the forecast. However, a sharp decrease in immunological reactivity and increasing anemia in any case of the onset of the disease lead to a fatal outcome.