Russell-Silver Syndrome

Until now, there is no point in the study of a serious disease - Russell-Silver syndrome. But it is undeniable that the disease begins with fetal growth in utero, the formation of the skeleton is disturbed, and the closure of the large fontanel occurs only at a late stage.

Russell-Silver Syndrome in his name combined the names of two pediatricians who successfully practiced in the middle of the last century. The Englishman Russell and the American and Silver in their practice met hundreds of cases of congenital anomalies. This was a distortion of the symmetry of the body with a characteristic growth hypotrophy. And it was accompanied by premature, accelerated sexual maturity. In 1953, Silver described these anomalies. A year later, Russell supplemented the information from his practice. He made a parallel between the short stature and the elevated gonadotropin in the urine. It turns out that the hormone of the anterior lobe of the pituitary gland or gonadotropin serves as a stimulus to the development of the gonads in both women and men.

[1], [2], [3], [4]

Epidemiology

To date, more than 400 cases of this disease have been reported. The prevalence of this disease is a ratio of 1: 30,000. In this case, the type of inheritance is not established, although single pedigrees with Russell-Silver syndrome are known.

[5], [6], [7], [8]

Causes of the russell-Silver Syndrome

The reasons for the development of Russell-Silver syndrome are not known, but modern studies point to the presence of the genetic component, possibly inheritance from the maternal genes.

[9], [10], [11], [12], [13], [14], [15], [16]

Risk factors

The danger of the disease is that almost no risk factors have been identified. And although in all economically developed countries thousands of doctors-researchers work in this direction, the final victory of the disease has not yet come.

[17], [18], [19]

Pathogenesis

The pathogenesis or mechanism that triggers the onset and development of the disease has not been studied until the end. It is known that hyprometylation of H19 and IGF2 is present in the syndrome. In 10% of cases, the disease is associated with maternal desomy (UPD) on the 7 chromosome.

[20], [21]

Symptoms of the russell-Silver Syndrome

The brightest and most obvious manifestation or the first signs of the disease are noticeable in the youngest children. A newly born child can see symptoms of Russell-Silver syndrome. This means that the intrauterine development occurred with a delay. Hence - the size and weight of the child does not match the period of pregnancy. And the pregnancy itself often took place with risk, with the threat of its interruption at an early date. The baby that has been born has a small, triangular face, markedly tapering downwards. The frontal tubercles are underlined. The enlarged skull is also noticeable. And the external genitalia are underdeveloped.

Infants often have difficulty with breastfeeding. Retrospective studies by Marsaud et al. Found frequent problems with digestion and malnutrition in children with Russell-Silver syndrome. In children, severe gastroesophageal reflux disease (55%), severe vomiting before the age of 1 year (50%), persistent vomiting at the age of 1 year (29%), and constipation (20%) are observed.

If immediately after birth there are no obvious signs of the disease, they manifest later. Teeth, despite the late appearance, affects caries, scoliosis develops, asymmetric growth of the sides of the body progresses. At the same time there is a short stature of the child. And almost always there is an early sexual maturation - a girl with Russell-Silver syndrome early comes the menstrual period. The boys prematurely show secondary sexual symptoms.

In addition, there are constant problems with the esophagus and kidneys. Such children run and run with difficulty, very insecure.

Diagnostics of the russell-Silver Syndrome

Unfortunately, this disease is on a par with most hereditary. And if the diagnosis of Russell-Silver syndrome (carrying out genetic studies) confirms the disease, it is necessary to know that there is no specific treatment method yet.

[22], [23]

Differential diagnosis

Russell-Silver syndrome must be differentiated with such diseases:

1. Fanconi syndrome;
2. Nijmegen syndrome (genetic disorder, as a result of which the child is born with a small head, stunting is observed, etc.);
3. Bloom's syndrome (genetic disease, accompanied by short stature and an increased likelihood of cancer).

[24], [25], [26], [27], [28], [29]

Treatment of the russell-Silver Syndrome

The only thing that can and should be done is to maximally improve the quality of life of such a patient and also maximize the appearance of the child in a normal state. Then the appointment of growth hormone will be mandatory. Hormonal drugs are also needed to correct early puberty. In particularly severe cases and for medical reasons, plastic is possible, i. E. Plastic surgery. It is prescribed for grossly expressed external genitalia.

Often a child of school age is transferred to home schooling. This is not due to mental retardation, which almost does not accompany the disease, but in order to protect the child from unnecessary psychological trauma. Visiting a regular school, a child with Russell-Silver syndrome experiences discomfort, which negatively affects his general condition.

Unfortunately, modern medicine has not won this most complex and in many ways mysterious disease. But she also gives recommendations that are vital to fulfill: such children should be under the constant supervision of a doctor-endocrinologist, for them the terms and frequency of medical examinations are established.

Particular attention should be paid to growth hormones, which have already been mentioned above. While they are the most effective of the entire spectrum of genetically engineered medicines. They are used strictly according to the scheme determined by the doctor. Preparations can be as imported - Swedish generotropin, French Humatrop, Sayzen production of Italy, and domestic Rastan. Dosage is only allowed by the doctor.

During treatment, its effectiveness is constantly monitored. It is considered successful if there is a clear increase in growth. There are cases when the child for the year of taking medications added in growth from 8 to 13 cm is particularly noticeable in the first six months. Then, in the second year of taking hormones, growth slows somewhat. But at 5-6 cm the child will be higher.

Prevention

Russell-Silver Syndrome is in no hurry to reveal its secret. If you compare, for example, TBC and this disease, then for all seriousness of the first it can be avoided. Today, all newborns are vaccinated, and then the child is given a mantle. Thus, tuberculosis, more precisely, the probability of getting sick with it, is under constant control. But while everything is wrong with Russell-Silver syndrome, as, indeed, with other genetic diseases. Therefore, future parents need to test their health before the conception of the child. And if there are no contraindications, a pregnant woman should strictly observe the regime of not only behavior and nutrition, but also a psychological state. Many obstetricians and endocrinologists warn the future mother from a viral illness. They are convinced that the flu in the first trimester is dangerous for the normal development of the fetus. But the rest of the term should also pass without a cold and other illnesses.

If, on the part of the husband or wife, there were cases of the birth of children with genetic abnormalities, then the parents themselves should show special attention, first of all. And be sure to inform the doctor, the gynecologist, who is watching the pregnant woman.

[30], [31], [32], [33], [34]

Forecast

Parents of children with Russell-Silver syndrome do not cease to ask themselves and the doctors the question: what is the prognosis of the treatment? Will the outcome be favorable? An unequivocal answer will not be given by any doctor: although the statistics are constantly changing, to say that the treatment will save the child from this disease, no one will undertake. But there is another answer, supported by real figures: both the state of health and the appearance of the patient, who has Russell-Silver syndrome, is radically changing for the better. And this is only on condition that the diseases were confronted by the parents themselves in tandem with an experienced endocrinologist and other specialists.

[35], [36]