Poland's syndrome

A rare anomaly in the intrauterine formation of the body structure, which basically consists in the hypoplasia of the sternum and rib part of the large pectoral muscle or its complete absence. He wears the name of an English surgeon, who described in his student years a specimen with a costal and muscular defect when he was working in the morgue. A.Poland was not the first, before him in separate cases in the beginning of the XIX century already paid attention in France and Germany, but it was his publication that initiated the serious study of this congenital pathology. At the turn of the 20th century J. Thompson published a full description of the disease. Since then, about 500 such cases have been described in the world medical literature.

[1], [2], [3]

Epidemiology

The incidence statistics show that congenital rib-and-muscle anomalies, expressed in varying degrees, occur on average in a newborn of 30,000 or slightly more live-born children. More often with such malformations, boys are born.

Up to 80% of deformities in the Poland syndrome are right-sided. Disturbances are expressed in varying degrees, and the correspondence between the severity of abnormalities of the formation of the chest and the hand is not traced.

[4], [5], [6], [7],

Causes of the poland's syndrome

The reasons for the birth of children with this anomaly remain to this day hypothetical. The type of inheritance and the gene that transmits this pathology is not defined, but there are descriptions of rare family history with Poland's syndrome. It assumes a recessive inheritance. It is believed that the probability of transmission of the disease from a sick parent to their children is approximately 50%. Most cases are single. Risk factors for the birth of children with this anomaly are external and internal teratogenic effects on the embryo during the period of the laying and development of organs and systems. There are several hypotheses explaining the etiology and pathogenesis of this rib-muscular defect, but none of them is fully confirmed. The most likely assumption is that any unfavorable factor provokes embryonic blood supply deficiency in the sixth week of pregnancy, when a subclavian artery is formed. This causes its underdevelopment (narrowing of the lumen) and insufficient blood supply, which leads to local hypoplasia of soft tissues and bones. The extent of damage is determined by the degree of damage to the artery and / or its branches.

Among the reasons are also mentioned the violation of migration of cells of the thoracic costal-muscle tissues of the embryo or their intrauterine trauma. But enough of reliable evidence to date, none of these hypotheses.

[8], [9], [10], [11]

Symptoms of the poland's syndrome

The first signs of this congenital anomaly are visually noticeable already in infancy by the characteristic appearance of the pectoral muscle and axilla. And in the presence of hypoplasia of the hand - from birth.

Symptom complex of the syndrome is as follows:

• unilateral inadequate development of the large pectoral muscle or its fragments, most often - the sternum and costal;
• on the same side - hypoplasia of the hand: shortened, fused fingers or its aplasia; insufficient development of the breast or its absence, atelia; thinning of the subcutaneous fatty layer; absence of axillary hair; anomalies in the structure of the cartilaginous / bone costal tissue, or their complete absence (usually III and IV).

The presence of all the features described in the second part is not mandatory, they can be combined with the first in a variety of options.

In addition, the anomalies of the structure of the widest dorsal muscle that cause asymmetry of the torso, hypoplasia or aplasia of the small pectoral muscle, abnormal development of the scapula and clavicle, chest with funnel-shaped deformity, curvature of the spine and the rib humps are extremely rare.

When the left defective side is often observed transposition of internal organs, in particular, the heart is shifted to the right. At normal location of the heart in combination with the absence of ribs, it is practically not protected and its palpation is noticeable under the skin.

Poland's syndrome in children is usually noticeable from the moment of birth, but in some cases minor defects are found up to about three years.

By localization, defects in the elements of the structure of the chest are divided into deformations of the anterior, posterior and lateral walls of the chest.

Poland's syndrome in girls at puberty even makes itself felt even to the slightest degree by the fact that the breast on the defective side is not formed or lagging behind in development and is located much higher than with the normal one. In mild cases of the disease in boys, the syndrome is sometimes found quite late, in adolescence, when it is not possible to pump the muscle from the defective side.

Poland's syndrome in women does not affect the hormonal background and the ability to conceive a child.

In most cases, the Poland syndrome is a cosmetic defect: the chest muscle is most often deformed or absent, there is no chest defect and there is a full-fledged brush. The motor functions of the upper limb are preserved, and nothing prevents such patients from intensively engaging in sports.

However, there are other, more traumatic types of this pathology. The consequences and complications of such cases are somewhat more serious. Depending on the degree of severity of deformities, the patient may develop disorders of respiratory function and hemodynamics. In cases of complete absence of the costal-cartilaginous frame, a pulmonary hernia is usually found, and respiratory disorders appear from the very birth.

In the more rare cases of left-sided pathologies in combination with the absence of ribs with normal disposition of the organs, the heart is directly under the skin. The life of such a patient is constantly threatened by the danger associated with possible trauma and cardiac arrest.

A child with a severe chest defect usually has problems with hemodynamics due to a decreased systolic and elevated diastolic arterial in combination with increased venous pressure. Such children are characterized by increased fatigue, asthenic syndrome, they may lag behind their peers in physical development.

The manifestations of the Poland syndrome concern both the structure of the subclavian artery and / or its branches, which creates conditions for the disorder of arterial blood flow on the side of the defect.

Some anatomical abnormalities of the structure and placement of vital internal organs are observed. The degree of their severity can significantly complicate the patient's condition. This deviation of the heart from a normal location in one direction or another, right up to transposition, widening its boundaries or turning clockwise, hypoplasia of the lung and kidneys on the defective side.

Stages

There are four stages in the formation of the chest in this disease.

The first is characteristic for the majority of known cases, when only soft tissues are abnormally developed, and the shape of the thorax and the structure of the cartilaginous and bony part of the ribs are normal.

The second is when the deformities have touched the thorax: the defective side with the preserved bone and cartilaginous part of the ribs slightly depressed in the rib cartilage region, the sternum is unfolded half-way, and on the opposite side, the protruding (keel) part of the thorax is often observed.

At the third stage, the structure of the osseous part of the ribs remains, and the cartilaginous is underdeveloped, the thorax is asymmetrical, the stump is oblique to the direction of deformation, but no coarse anomalies are detected.

The fourth stage is characterized by the absence of the cartilaginous and bony part of the ribs from one to four (from III to VI). From the defective side in place of the absent ribs - the hollow, the sternum is markedly unfolded.

Nevertheless, at any stage of the formation of the elements of the structure of the chest, the state of the child's organism can be normal (compensated), with periodic improvements (subcompensated) and with increasing deterioration in the work of internal organs and the skeletal system (decompensated). It depends on the individual characteristics of the body, the rate of development, comorbidity and lifestyle.

[12], [13], [14], [15]

Diagnostics of the poland's syndrome

The costal-muscular congenital pathology is determined visually, the doctor palpates the patient and prescribes radiography. Usually this is enough to reveal the extent and type of lesion of the chest. A more accurate picture of the disease can be given by computer and magnetic resonance imaging.

Ultrasonography of the subclavian artery is also prescribed to determine its diameter, ultrasound examination of the brain and other instrumental diagnostics according to indications.

To assess the attendant anatomical defects, cardiologist consultation and electrocardiography, ultrasound examination of the heart, veloergometry, echocardiography and dopplerography of the main vessels are necessary.

In respiratory distress, a pulmonologist's consultation is required, which can prescribe a study of the functional state of the lungs, for example, spirography.

Analyzes with this disease are usually within the norm provided there are no concomitant pathologies.

Careful diagnostic measures allow you to accurately estimate the extent of reconstructive interventions.

[16], [17], [18], [19]

Differential diagnosis

Differential diagnosis should rule out the developmental defects of the hand without muscle lesions, congenital deformities of the chest, acrocephalosyndactyly, Möbius syndrome, which also affects the upper limb and thorax.

[20], [21], [22],

Treatment of the poland's syndrome

This pathology is subject to surgical treatment. Often according to the testimony, it begins in early childhood. Sometimes, several surgical interventions may be required, for example, with a pronounced chest defect or rib aplasia to ensure cardiac safety or normalize the respiratory system. Such operations are carried out in the departments of thoracic surgery. Their goal is the formation of the best protection of internal organs, ensuring their normal functioning, eliminating the curvature of the chest, restoring it and recreating the natural anatomical ratio of soft tissues.

The main and most difficult stage of the surgical treatment of this syndrome is the elimination of the curvature of the skeletal elements of the thorax and the replacement of missing ribs. Different methods of thoracoplasty are used. In the case of a right-sided location of the defect and the absence of, for example, III and IV rib, splitting of II and V is made. The deficit of the four ribs is corrected by transplanting part of the ribs taken from the healthy side of the patient's chest. In modern medical practice, the preference for transplanting the patient's tissues is given to titanium implants.

Preschoolers in the area of costal flaw are put a dense network that protects internal organs and does not violate the further development of the ribs, because the rib plastic in children can lead to secondary curvature of the elements of the skeleton of the chest caused by the uneven formation of healthy and operated baby ribs.

Surgical correction of pronounced curvature of the sternum is carried out with the help of wedge-shaped sternotomy.

If there is an underdevelopment of the brush, the operative help is given by orthopedists-traumatologists.

At the first stage of the Poland syndrome, the sole purpose of surgical intervention is to eliminate the cosmetic defect. If there is a defect in the thoracic musculature, a normal anatomical ratio is restored, either by the patient's muscular tissue (a part of the anterior dentate muscle or the rectus abdominis), or with a silicone prosthesis. For men, individual silicone prostheses are more desirable, since muscle transplantation does not provide a full-fledged cosmetic effect and instead of one muscle defect there are two. However, the choice of the method of carrying out the operation is always determined depending on the specific case.

Women are moved the broadest muscle from the back forward, while simultaneously creating a muscular framework and interlayer. After waiting for healing, perform reconstructive mammoplasty.

These operations are considered to be clean, drug-preventive therapy is prescribed individually, taking into account the volume of the operation, the presence of implants, the tolerability of the drugs, the age and concomitant diseases of the patient. The minimum volume of drug prevention includes pre-operative antibiotic therapy (prescribed an hour before the operation begins and ends no later than a day or two), anesthesia and sedation, restoration of bowel function and drainage of the pleural cavity (if thoracoplasty is performed). The most commonly used for prophylaxis and bacterial complications are cephalosporin antibiotics of II and III generations.

Cefuroxime - ß-lactam bactericide of a wide range of activity, the mechanism of action is to interrupt the synthesis of the bacterial cell membrane. Antagonist strains of Gram-positive and Gram-negative bacteria, including those resistant to synthetic penicillin-ampicillin and amoxicillin. After intramuscular injection of 0.75 g of the drug, the maximum serum level is observed after no more than an hour, intravenous - after 15 minutes. The necessary concentrations persist for more than five and eight hours, respectively, they are fixed in bone and soft tissues, skin integuments. Eliminated completely in 24 hours. Contraindicated in case of sensitization to other cephalosporins, with caution - for allergies to penicillin agents.

With allergy to cephalosporins, Vancomycin may be prescribed . This drug is used only intravenously drip for an hour (0.5 g in six hours or 1 g in twelve). Patients with dysfunction of the kidney dose is adjusted.

Before the appointment of an antibiotic, the test is usually made for sensitivity, so as not to complicate the course of the operation. Side effects, except for allergic reactions, with short prophylaxis can be neglected.

The first day after the surgery, anesthesia is carried out with narcotic analgesics. For example, Promedol, opioid analgesic, significantly increasing the pain threshold, inhibiting reactions to irritants, soothing and speeding up the process of falling asleep. It is used in the form of injections, subcutaneous and intramuscular. The highest dose is 160 mg per day. The organism occasionally reacts to the introduction of this drug with nausea, dizziness, development of euphoria.

On the second day after surgery, the narcotic drug alternates with non-narcotic drug, then - Promedol is prescribed only before bedtime.

Patients in the postoperative period before the initiation of an independent defecation are made hypertensive enemas, the use of sweet and soda water is excluded, Prozerin is prescribed , which stimulates secretory function of the glands of the gastrointestinal tract, and also sweat and bronchial, tones smooth muscles of the intestine and bladder, and skeletal muscles . Contraindicated in case of sensitization, thyrotoxicosis, severe pathologies of the cardiovascular system. Take orally for half an hour before meals, the daily dose (not more than 50 mg) is divided into two or three doses.

Appointed as drugs that improve blood circulation in tissues and supply them with oxygen: Riboxin, Solcoseryl, Actovegin - improving metabolic processes, microcirculation and healing of postoperative wounds.

To monitor the pleural cavities in the early postoperative period, their ultrasound is used to find out the blood and the transudate to perform pleural drainage.

After the operation for transplantation of the ribs, the patient is observed in the hospital for approximately 14 days, the recovery period lasts several months. After the operation, it is recommended to limit physical activity and avoid shocks and bumps in the area of surgical intervention during the year.

Muscular plastic surgery is less traumatic, the patient is discharged, usually in two or three days, to limit physical activity during a month.

Rehabilitation measures should promote the speedy detoxification of the body and the normalization of metabolic processes, improving blood microcirculation and restoring tissues in the area of operation. Patients are assigned vitamins (C, A, E, group B, D3, calcium, zinc) that promote healing of the skin, soft tissues and bones, strengthen immunity and improve the overall condition of the body. In the hospital, vitamins are administered intramuscularly and orally, at discharge, the doctor can recommend the intake of vitamin-mineral complexes.

After surgical treatment, the circulatory and respiratory systems adapt well against the background of medical sleep. From the first to the tenth day of treatment, patients are recommended breathing exercises, massage and exercise therapy.

In the rehabilitation period, physiotherapy is used to improve the tone of the skeletal and respiratory muscles, to develop proper posture and walking: electrophoresis, electro- and magnetotherapy, thermal healing procedures (curative mud, paraffin, ozocerite), hydrotherapy (swimming, hydro-massage, pearl baths) .

Alternative treatment

Alternative treatment can help in the preparation for surgery and stimulate the recovery processes in the body, saturating it with not synthetic, but natural vitamins.

It is useful to use vitamin and mineral mixtures that strengthen the immune system, improve blood circulation and accelerate the healing of postoperative wounds.

1. Grind in any way 500 g of cranberries, a glass of peeled Voloshi nuts, four large apples with green peel, removing the core. Add half a cup of water and 500 g of sugar, put on a small fire. Boil, stirring regularly. Keep in a jar with a lid. Take several times a day on a tablespoon.
2. Grind in any way in equal parts by weight of dried apricots, raisins, Herring nuts, lemons, removing the bones, but with the skin. Pour honey in the same amount, mix well. Store in a refrigerator in a glass jar with a lid. In the morning 30 minutes before meals, eat a tablespoon of this mixture.

It is good to drink freshly prepared juices from available vegetables and fruits (in winter - carrot, apple, citrus), they can be mixed, for example, a classic combination - carrot and apple. The course of cocotherapy lasts three weeks, I week - once a day in the morning before meals, half a glass, II week - the same, but in the morning and before dinner, III week - again once a half a cup. The course can be repeated, but not earlier than in ten days.

You can brew tea, both black and green, with dried pieces of citrus peel.

To raise immunity and improve blood circulation, especially in the winter and spring period, when the body experiences a deficiency of vitamins, you can, using the arsenal of herbal treatment. The following mixtures of medicinal herbs are drunk instead of tea at breakfast after eating.

1. Shredded leaves of nettle and Schizandra (150 g each) are mixed with 50 g of sage. Brew in a thermos a teaspoon of phyto mixture with boiling water in a volume of 200 ml. After two hours, strain, add a teaspoon of honey.
2. Prepare a phyto-mixture of shredded herb grass, a sheet of wild strawberry, chamomile flowers medicinal. Tablespoon of the mixture boil with boiling water (250 ml), after 20 minutes drain.

Infusion of dried red mountain ash drink half a cup four times a day: brew ½ liter of boiling water, two tablespoons of berries, insist at least a quarter of an hour, drain, you can add honey.

Homeopathy belongs to conservative methods of treatment and it can hardly help to correct congenital deformities, but homeopathic preparations are fully capable of preparing for surgery or activating the recovery process. Arsenicum Albumum, Arnica, Mancinella contribute to the healing of wounds, Calcarea fluoride and Calcarea phosphoric - bone fusion. It should be noted that homeopathic medicines should be prescribed by a homeopathic doctor.

Pharmaceutical homeopathic preparation Traumeel C can be used in the postoperative period, using its high restorative qualities. The effectiveness of the drug is due to its ability to activate the chain of immune system reactions, exciting a clone of Th3 lymphocytes. As a result, the equilibrium of pro- and anti-inflammatory cytokines is normalized at the site of surgery, which contributes to the elimination of edema, pain, and hyperemia. Restores disturbed microcirculation and tissue functions.

Injections are made intramuscularly and intradermally, under the skin, according to the method of biopuncture and homeopathy. The daily dosage to patients from six years of age and older is 2.2 ml, up to six years - no more than 0.55 ml. In severe cases, adults can enter two ampoules during the day.

When the condition improves, they switch to the tablet form of the drug (sublingually): patients from the age of three can be given on a tablet in three doses, 0-2 years - in half a tablet in three divided doses. To remove acute conditions, the tablets are resorbed at intervals of a quarter of an hour. This procedure can be carried out for two hours (no more than eight receptions).

[23], [24]

Prevention

Specific measures to prevent this congenital disease there. The healthy lifestyle of both parents and the responsible attitude towards procreation greatly increases the likelihood of the birth of healthy children.

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

Forecast

The majority of cases of this congenital defect in the structure of the body is reduced to a muscle underdevelopment that does not affect the functioning of the limb and internal organs, on fertility in women and constitutes a removable cosmetic defect. Even with more complex combined lesions, timely treatment provides the patient with the opportunity to lead a fully-fledged life.