Niman Peak disease
Contents:
Description:
Niman's disease - Peak (sphingomyelinosis) (an early children's form). Frequency of a disease makes 1 case on 100 000 children. A disease described A. Niemann in 1914 and in 1922 L. Pick.
The disease of Nimanna-Pika combines group of the sfingomiyelolipidoz which are characterized by accumulation of sphingomyelin owing to decrease of the activity of the enzyme of a sphingomyelinase catalyzing hydrolysis of sphingomyelin with formation of a fosforilkholin and the tseramidny remains.
Symptoms of the Disease of Niman Peak:
The disease begins at the age of 3-5 months with anorexia, vomiting, irritability, then there comes apathy. There is an increase in a liver, spleen and lymph nodes. They become dense, painful. In the beginning the stop of the general development, then loss of motor skills is noted. Interest in surrounding is lost. Come to light also a hyper tone, muscles hypotonia, epileptic seizures, reduction of painful sensitivity is more rare. At patients visual acuity decreases, then there come the blindness and deafness. The cherry spot on an eyeground is found in 20-60% of patients.
Allocate three main types of a disease of Nimann - Peak - And, In and With which differ with beginning time, weight of neurologic and visceral manifestations.
The disease meets in all ethnic groups, however the frequency of type A is higher among Jews-ashkenazi and makes 1: 100.
The type A (classical infantile form, acute neyropatichesky form) is observed most often. The disease is shown after the birth and characterized by damage of internals and ц.н.с. In 3 months difficulties of feeding are noted, the hypotrophy, and in 6 months comes to light a gepatosplenomegaliya. As a rule, the liver increases earlier, than a spleen. Children are exhausted, characteristic the big speaker a stomach and thin extremities. From neurologic disturbances the hypomyotonia, oppression of tendon jerks, lack of reaction on surrounding, a stop of motor development, then loss of already acquired skills are noted. Early hearing decreases. Skin gets brownish-yellow coloring because of sphingomyelin exchange disturbance. Approximately in 50% of cases the cerise spot in the field of a retina macula lutea comes to light. Opacification of a cornea, a brown prokrashivaniye of the front capsule of a crystalline lens are also described. Sick children die usually on the third year of life.
At type B (a visceral form, a chronic form without involvement of a nervous system) the main clinical manifestations develop later, than at type A. The splenomegaly develops at the age of 2-6 years, the liver and lungs are surprised later (patients are subject to frequent respiratory infections). Defeat symptomatology ц.н.с. no, on the contrary, in some cases high mental abilities are noted. Life expectancy is not reduced.
The type C (subacute, youthful form, chronic neyropatichesky form) is shown in 1-2 years and characterized by neurovisceral disturbances. At first there is a gepatosplenomegaliya (it is less expressed in comparison with types A and B), the cholestasia can be observed. Neurologic symptoms develop against the background of damage of internals, the hypomyotonia, increase in deep tendon jerks which are replaced by spastic paralysis, and also an intentsionny tremor, a moderate ataxy, spasms are noted. Most of patients perishes at the age of 5-15 years.
Etiologies of Niman Peak:
Lack of enzyme of a sfingomiyelinidaza is the cornerstone of a disease.
Treatment of the Disease of Niman Peak:
Symptomatic treatment. Some stabilization of process and improvement of the general state are observed at purpose of vitamins, hemotransfusion, plasmas, administration of fabric extracts.
