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Russell-Silver Syndrome

 
, medical expert
Last reviewed: 11.04.2020
 
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Such an innate pathology as Russell-Silver syndrome is characterized by the intrauterine lag of the child in physical development, the incorrect formation of the skeletal apparatus in the infant period, and the belated closure of the fontanel. Fortunately, the disease is not common, but it is because of this that relatively little is known about this pathology, although profile studies have been and are being conducted in many countries around the world.

The lack of information about Russell-Silver syndrome often leads to incorrect diagnosis and, as a result, improper treatment of children. So, instead of the Russell-Silver syndrome, hydrocephalus, hypophysial insufficiency, etc., are often treated.

trusted-source[1], [2], [3], [4], [5]

Epidemiology

Cases of the Russell-Silver syndrome are often sporadic - that is, single. According to statistics, the incidence rate is estimated as 1 probable case for 30 thousand newborns.

Russell-Silver Syndrome can equally affect both girls and boys.

trusted-source[6], [7], [8], [9], [10]

Causes of the russell-Silver Syndrome

According to the information obtained as a result of the examination of patients with Russell-Silver syndrome, this disease has genetic heterogeneity. This means that the symptomatology of gene pathology can be caused by mutations at different loci, or by different mutations in one locus (multiple alleles). In practice, these are nosological forms that differ from each other, etiologically combined according to the clinical coincidence of the phenotype.

The pathogenesis of Russell-Silver syndrome is simple: in 10% of patients the cause of the development of the disease was the monotonous chromosomal disomia (ORD 7) of the parent type. In this chromosome, groups of imprinted GRB 10 genes are localized (protein that binds hGH 10 to human growth hormone), IGFBP 1 (protein binding IGF 1), IGFR (IGF receptor) in region 7 q 31. The clusters listed are defined as genes that may become a possible cause of Russell-Silver syndrome.

In recent years, according to the results of the studies, another site for the localization of 11 p 15 genes has been identified, the disorders in which can lead to the appearance of Russell-Silver syndrome. Nevertheless, from the practice of damage to this site, the development of another syndrome - Beckwith-Wiedemann - is more often provoked.

trusted-source[11], [12], [13], [14], [15], [16], [17]

Risk factors

The direct impact of any risk factors on the development of Russell-Silver syndrome has not been proved. However, in addition to the genetic causes that cause violations in the formation of the fetus (approximately at the 6-7th week of gestation), several other possible provoking factors are singled out:

  • birth injury;
  • mechanical compression or prolonged state of fetal hypoxia;
  • infection (especially viral) in the first half of pregnancy.

trusted-source[18], [19], [20], [21], [22]

Symptoms of the russell-Silver Syndrome

The first signs of Russell-Silver syndrome are usually noticeable immediately after the birth of the child: his weight and height at birth are significantly lower than in other children, despite the fact that the pregnancy is full. The height of the child at birth is usually less than 45 cm, and the weight - from one and a half to 2.5 kg. The body can be folded disproportionately.

Further, other pathological signs of the syndrome become noticeable:

  • in boys, cryptorchidism is detected (irregular placement of testicles);
  • hypospadias (atypical opening of the urethra);
  • underdevelopment of the penis tissue;
  • underdevelopment of the scrotum;
  • incorrect proportions of the trunk and extremities;
  • an enlarged cranium (pseudohydrocephaly);
  • triangular face shape;
  • the sign of the "mouth of the carp" is a smaller mouth with lowered corners;
  • early sexual development;
  • High palate (sometimes with a cleft).

Additional diagnostic signs of Russell-Silver syndrome can be:

  • improper location of subcutaneous fat;
  • the narrowed form of a thorax;
  • lumbar lordosis;
  • curvature of the little finger.

There are also internal anomalies of development. So, often there are problems with the work of the kidneys: during the diagnosis they detect an irregular form of organs, curvature of the renal pelvis, acidification of the tubules.

Intellectual abilities of children with Russell-Silver syndrome do not suffer.

Stages

As such stages of development, Russell-Silver syndrome does not. However, in some medical reference books, the features of the course of the "soft" and "severe" forms of pathology are sometimes mentioned. It is noted that the term "soft" flow is used in the absence of severe anomalies in the development of internal organs, in the absence of a lack of growth hormone in the presence of a pronounced low bone age.

trusted-source[23], [24], [25], [26], [27]

Complications and consequences

Russell-Silver syndrome can lead to the development of complications in the event that there are serious violations of the internal organs or the endocrine system. Therefore, it is very important to diagnose and treat concomitant diseases at an early age. Otherwise, there may be a number of complications of the syndrome, which are manifested individually:

  • disorders of kidney function, chronic pyelonephritis, glomerulonephritis;
  • abnormal liver function;
  • abnormal thyroid function;
  • heart failure.

With successful rehabilitation measures, doctors point to a very optimistic forecast.

In the event that the diagnosis of Russell-Silver syndrome is confirmed, and there are no signs of internal organ damage, regular observation with the doctor is still necessary, since even a minor cold can cause a sick child to develop a serious chronic disease.

trusted-source[28], [29], [30], [31], [32]

Diagnostics of the russell-Silver Syndrome

The diagnostic procedure may include the following types of examination:

  • collection of information about the history, including family history, with an estimate of the intensity of growth, from the period of the newborn to the time of diagnosis;
  • control of growth and proportionality of development of the trunk;
  • evaluation of the biological maturity of the body - the so-called bone age;
  • testing of the baseline level of insulin-like growth factor 1;
  • standard testing to determine the presence of pituitary reserves in the production of growth hormone;
  • Analyzes for determining the most common somatic pathologies;
  • urine analysis for the content of glucocorticosteroids;
  • a blood test for the maintenance of thyroid hormones;
  • genetic analysis (standard cytogenetic study).

Instrumental diagnosis of the syndrome consists of such types of research:

  • X-ray diagnostics;
  • Ultrasound of internal organs and thyroid gland;
  • electrocardiography;
  • CT and MRI;
  • encephalography.

trusted-source[33], [34]

Differential diagnosis

Differential diagnosis of Russell-Silver syndrome can be carried out with the following diseases:

  • hydrocephalus;
  • Shereshevsky-Turner syndrome;
  • primary hypothyroidism;
  • emotional deprivation;
  • hypopituitarism.

trusted-source[35], [36], [37], [38], [39], [40]

Who to contact?

Treatment of the russell-Silver Syndrome

As for most genetic diseases, there is no specific therapy for Russell-Silver Syndrome. The activities and medicines that are used in the Russell-Silver Syndrome are aimed at normalizing the appearance of the child and improving the quality of his life.

With a significant delay in growth, the patient is assigned a recombinant human growth hormone - a peptide hormone substance that completely coincides with the human hormone of the anterior lobe of the pituitary gland. Such treatment begins in childhood, not later than 13-14 years. Recombinant growth hormone consists of 191 amino acids, and is produced as a light sublimated powder for injections. Duration of treatment RHRH can be from 3-4 months or more. The dose of a hormone can be 10-20 units per day (for women it is possible to reduce the dosage to 4-8 units). Among the side effects in the treatment of RHRCH are such symptoms as headache, visual impairment, edema of the optic nerve, hearing disorders, pancreatitis, edema, allergic reactions.

Treatment of growth hormone syndrome should be initiated, the earlier, the better. The recommended amount of the drug for use in childhood is 0.1-0.2 units per kilogram of body weight three times a week (intramuscularly or subcutaneously).

Unnecessarily early sexual development is amenable to correction after the use of hormonal drugs. Boys are assigned chorionic gonadotropin for 3 months in combination with methyltestosterone. Girls receive estrogen treatment. Also use synestrol (in the first half of the monthly cycle) and chorionic gonadotropin (in the second half of the monthly cycle).

With thyroid-stimulating hormone deficiency, substitution treatment with thyroid hormones is used.

When corticotropin deficiency is taken hydrocortisone in a dosage of not more than 10-15 mg per m 2 per day.

With a deficiency of gonadotropic hormones, steroid hormones are prescribed until the age of bone age is associated with the onset of puberty. It is better to start such treatment from 5-7 years of age, but not later than 18 years.

Children with dwarfish genitalia spend several three-month courses of intramuscular injections of testosterone-enanthate, in an amount of 25 mg once every 4 weeks. Such treatment will allow you to adjust the size of the genital organs without side effects on the musculoskeletal system.

With insufficient pituitary function and deficiency of the releasing factor, a good effect is expected from the use of the releasing hormone. He is appointed for six months every 3 hours.

In addition, in the Russell-Silver syndrome, a restorative treatment is prescribed:

  • vitamins A and D;
  • complex preparations with calcium, phosphorus and zinc;
  • diet food with an emphasis on protein foods and vitamins (vegetables, fruits, herbs, berries, nuts, etc.).

Physiotherapeutic treatment

Physiotherapeutic methods are used to improve the function of the neuromuscular system, to normalize the vegetative processes, to eliminate and prevent dystrophic disorders. The following methods can be a good choice for the treatment of Russell-Silver syndrome:

  • neuroelectrostimulation, drug electrophoresis with anticholinesterase drugs;
  • electrostatic massage, amplipulsophoresis, diadynamic therapy, myoelektrostimulation;
  • darsonvalization, manual therapy;
  • therapeutic baths (pearl, coniferous), contrast shower, aerotherapy;
  • nonselective chromotherapy.

Sanatorium treatment in sanatoriums is encouraged, depending on the presence of background diseases of internal organs.

Alternative treatment

Improve the state of the patient with Russell-Silver syndrome with the help of prescriptions of alternative medicine.

  1. We take three heads of garlic, separate the lobules and grind them. Add the four lemons passed through the meat grinder along with the rind, 200 g of flaxseed oil and 1 liter of honey. Mix all the ingredients with a wooden spatula. We take three times a day for half an hour before a meal of 1 tsp.
  2. Take 200 g of chopped onion and the same amount of sugar, pour 0.5 liters of water, mix, put on a small fire. Boil for an hour and a half, cool, add 3-4 st. L. Honey. Accepted for 1 tbsp. L. Three times a day.
  3. Daily it is necessary to eat 100 g of dried fruits, such as dried apricots, bananas, raisins.
  4. Take 1 glass of whole pure oats, pour 0.5 liters of hot water and boil on low heat for about 40 minutes. After that we remove from the fire and insist under the lid for at least an hour. The broth is filtered out, we add honey to taste. We take 100-150 ml 4 times a day for 30 minutes before a meal.

The total duration of treatment by alternative methods is from 3 months to 1 year, depending on the severity of the symptoms of the disease.

trusted-source[41], [42], [43], [44], [45], [46]

Herbal Treatment

  • The bark of the barberry bush is filled with quality vodka in the ratio 1:10, we insist 7 days in the dark. Drink 30 drops three times a day, previously diluted in 100 ml of water.
  • Steam in 250 ml of boiling water 1 tsp. Dry grass adonis, we insist 1 hour under the lid. We drink three times a day for 1 tbsp. L.
  • Steam in 250 ml of boiling water 1 tsp. Dried cucumber grass, we insist during the night under the lid. In the morning we begin the reception: 1 tbsp. L. Up to 6 times a day.

In addition to alternative treatment of the syndrome, it is recommended to regularly add cinnamon, pine nuts, cedar oil, linseed oil to food.

Homeopathy

Homeopathic treatment of patients with Russell-Silver syndrome can positively affect the overall well-being and quality of life if the drug is taken at an early stage in the development of major symptoms.

To improve the condition, such homeopathic preparations can be recommended:

  • Belladona 200, twice a week, with frequent ARVI, problems with teething;
  • Sulphuris LMI once a week with poor immunity, skin problems;
  • Calcium fluoricum 1000 - 1 pellet per 100 ml of water, one teaspoon once a week;
  • Growth-norm - in violation of mineral metabolism, disorders of the central and autonomic nervous system, in osteoporosis, immunodeficiency - three times a week, 5 granules under the tongue.

Operative treatment

Operative treatment for Russell-Silver syndrome is not always used, but only in cases when certain symptoms bring discomfort or affect the quality of life of the patient. Indications for surgery may include:

  • cleft palate;
  • improper disposition of teeth and anomaly of development of lower jaw;
  • Clinodactyly - curvature or abnormal development of the fingers;
  • kammdodactyly - an innate variant of contracture;
  • syndactyly - fusion of fingers;
  • defects in the development of genital organs.

The question of the optimal age for the operation is decided individually: some anomalies require more rapid elimination, and violations such as defects in the structure and development of the genitals, it is better to operate on reaching the sexual maturity of the patient.

Prevention

Currently, the planning of a healthy pregnancy necessarily includes a per-conception prophylaxis, which can significantly reduce the risk of having a child with genetic abnormalities, including Russell-Silver syndrome. This type of prevention includes:

  • conducting a full survey of the couple at the planning stage, which allows you to detect and cure many pathologies in advance - these are various infectious, hormonal or endocrine disorders that can have a negative effect on the development and placement of the fetus;
  • use of vitamin preparations for several months before the start of the planning phase (vitamins B, vitamin C, retinol, folic acid);
  • genetic tests at the planning stage will help to detect deficiencies in the development of the embryo in the first trimester of pregnancy.
  • It is recommended to abstain from related marriages, as it is proved that the close relationship of the parents of the baby significantly increases the risk of developing genetic pathologies.

trusted-source[47], [48], [49], [50], [51]

Forecast

In most cases, patients who have Russell-Silver syndrome are diagnosed with timely and competent treatment get a normal appearance. Patients quite successfully adapt to the conditions and can lead an absolutely full life.

trusted-source[52]

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