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In 1919, the German pediatrician Gertrud Hurler, at the suggestion of her boss, the largest German pediatrician Meinhard von Pfaundler, described several patients with one type of "multiple abarths", mainly in the skeletal system, later this type of dysostosis was called "Pfaundler-Hurler syndrome".

Sometimes, mostly radiological syndrome called myochondrodystrophy due to the finding of cartilage infiltration with lipoids skeletal system, central nervous system, liver and other organs. But then it turned out that these deposits are not of lipoid origin.

There is evidence that before the publication of Gertrud Gurler the same disease in 1917 was described by Gunther. The concept of "multiple abarths", introduced in medical practice Pfaundler, is a group designation for a number of symptom complexes, coordinated multiple developmental anomalies that are consequences of syntronia (syntropy is more than a random coincidence of painful phenomena in humans). Deformities come to light in the most different systems.

Gizella Tim considers it possible to distinguish among the "multiple abarths" a type with a predominant lesion of organs of ectodermal and mesodermal origin. Allocate a type associated with metabolic disorders.

I. I. Merkulov in 1971 pointed out that until 1954, about 200 cases of Pfaundler-Hurler syndrome.

In the first months of life attention is drawn to the large skull, rough facial features, sunken bridge of the nose, joint stiffness, thoraco-lumbar kyphosis.

After the first year of life, and sometimes only at the age of 3-4 years they notice macro- and scaphocephaly; characteristic facial expression ("face spitting out water"); rarely located carious teeth of irregular shape; a short neck, as if the head is planted on the body; flattened saddle nose with open nostrils; widely spaced eyes with narrow slits; thick eyebrows, merging in the region of the nose; long eyelashes. The lips are thick, the tongue is large, the palate is high, the upper jaw is thickened and the lower jaw is reduced in size. The body is short, deformed "chicken" chest, limbs are short. The arms are like paws, curved inwards; mobility in the joints is difficult. Dwarf growth (Fig. 6).

The abdomen is enlarged, there are hepato- and splenomegaly, inguinal and umbilical hernia, skin dry and rough, nails in the form of watch glasses. Deafness develops. heart with birth defects, lungs with limited mobility. Mental retardation, lethargy. X-ray reveals premature ossification of the lambdoid suture, extended sella turcica, pathological shape of the vertebrae (“fish vertebrae”), curvature radius, deformation of the meta- and epiphyses of long tubular bones, short metacarpal bones and phalanges. In the urine, an increased content of mucopolysaccharides - a mixture of chondroitin sulfate B and heparitin sulfate.

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These substances were determined in various tissues, including the conjunctiva and cornea.

The syndrome is regarded as thesaurismosis. Thesaurismosis is such a metabolic disorder in which individual metabolic products accumulate in large quantities in the body and are deposited in cells and organs.

Suggest to distinguish 5 types of mucopolysaccharidoses.

Girls are more likely to suffer from this syndrome. The type of inheritance is autosomal recessive.

On the part of the organ of vision in the syndrome, clouding of the stroma of the cornea and Bowman's membrane is especially common in the form of gray dots, sometimes merging into stripes and reticulate formations, and sometimes massive opacities without newly formed vessels. Corneal sensitivity is preserved (Fig. 6b). Vision may be reduced to counting the fingers of the face.

Hypertelorism, ptosis, epicanthus, exophthalmos, internal strabismus, macrocornea up to 14 mm in diameter with normal or elevated intraocular pressure are observed. May be iris coloboma, cataract, atrophy optic nerve and retinitis pigmentosa.

On pathological examination find a decrease in the volume of the white matter of the brain, internal hydrocephalus due to the deposition of mucopolysaccharides in the meninges and a violation of their permeability. In the valves of the heart, retina, sclera, cornea, kidneys, spleen, nerve ganglia, deposits of mucopolysaccharides are also detected.

Differentiate with other types of mucopolysaccharidoses.

Hurler syndrome is considered the prototype of mucopolysaccharidoses, but we must not forget that it characterizes only the most severe part of the clinical spectrum.

In this severe and progressive form of mucopolysaccharidosis type I, leading to damage to many organs and tissues, patients usually do not live past the age of 10 years.

Symptoms

At birth, children with Hurler syndrome appear healthy, but as early as 6-24 months of age they have hepatosplenomegaly, skeletal deformities, coarse facial features, corneal clouding, enlarged tongue, protruding forehead, joint stiffness, and short stature. Some patients develop acute cardiomyopathy before the age of 1 year. General developmental delay, hearing impairment, and enlarged tongue interfere with the acquisition of speech skills. Deafness is associated with neurosensory and conduction disorders. Upper infections often occur respiratory tract and otitis; the child breathes noisily, his nose constantly flows. Communicating hydrocephalus leads to expansion of the cerebral ventricles with increased intracranial pressure. Commonly, corneal clouding, glaucoma, and retinal degeneration develop. In many cases, due to chronic airway obstruction, it is necessary to resort to a tracheostomy. Death usually occurs from damage to the lungs and heart.

The X-ray picture of the Hurler syndrome with mucopolysaccharidoses corresponds to multiple dysostosis. The skull is enlarged, its vault is thickened, the lambdoid and sagittal sutures are prematurely closed, the orbits are small, the Turkish saddle looks like a spiral, the distance between the teeth is broken, and eruption cysts are visible. There is hypoplasia of the anterior part of the lumbar vertebrae and kyphosis. The diaphyses of long bones are enlarged, the metaphyses are deformed, the centers of ossification in the epiphyses are poorly developed. The pelvis is usually poorly formed, the heads thigh bones small and turned outwards. The clavicles are shortened, thickened and deformed; ribs are paddle-shaped (narrowed towards the spine, flattened and expanded towards the sternum). The phalanges of the fingers are short with extended shafts.

Analysis of mutations in Hurler syndrome revealed two main alleles, which account for more than 50% of all mutant alleles identified in mucopolysaccharidosis type I among the white population. All of these alleles are silent (i.e., do not code for an active enzyme) and in homozygotes or mixed heterozygotes cause the most severe form mucopolysaccharidosis type I - Hurler syndrome. Many mutations were found in only one or a few patients.

The article was prepared and edited by: surgeon

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Such diseases of the skeletal system as, for example, chondrodystrophy and gargoylism are quite rare, and information about them is still insufficient. In this article, we will try to highlight the causes, diagnosis and treatment of these serious ailments.

General information about chondrodystrophy

This disease affects primarily the base of the skull, as well as the lower and upper limbs. It is systemic and congenital in nature, modifies the skeleton and prevents it from fully developing even at the embryonic stage. The defect begins its development in the mother's womb (3-4 weeks of pregnancy). The body of the patient has a normal size, and the limbs are shortened.

Causes

Most doctors agree that the disease is hereditary. Improper ossification leads to impaired bone growth. The epiphyses of long bones of a tubular shape are affected. Interesting fact: in thickness, the bones grow in the usual way. When examining the x-ray, you will easily notice that the bones appear somewhat thickened. This is an appearance, they are just short.

Clinical picture and diagnosis

Characteristic signs of the disease are shortening of the hip and shoulder. In children, the real problems with deformity begin after they learn to walk.

Other signs:

In the event of an illness being detected in early stage fetal maturation, doctors recommend a caesarean section.

Treatment

It is impossible to cure chondrodystrophy, because effective therapy does not exist. There are no endocrinological drugs that normalize bone growth in the child's body.

The patient's suffering is alleviated by orthopedic therapy, based on the prevention of deformity through corrective operations and the use of specially designed drugs. Limb lengthening by surgery does not solve the problem, since the picture of the disease remains unchanged. In addition, the operation is extremely painful.

Hurler syndrome

This pathology is also known as "gargoylism" and is caused by a violation of the metabolism of mucopolysaccharides and lipids. The disease is quite rare and is hereditary. In the organs (connective tissue), heparan sulfate and dermatan sulfate accumulate. Serious metabolic disturbances begin. Mucopolysaccharides are concentrated in the retina, brain, peripheral nerves, spleen, liver and other organs.

Clinical picture

The patients are often children. They are short, have a steep forehead, an enlarged skull, a sunken nose root, a large tongue, thick lips, a special facial expression, limited mobility, a short neck, and a number of other external features. The patient's hand remotely resembles a trident. The abdomen and buttocks are protruded.

The following changes are observed in the organs:

hepatosplenomegaly;
diffuse clouding of the cornea;
umbilical hernia;
deafness;
hypertrichosis.

In addition, traced:

hoarse voice;
dementia;
dental caries;
hard and dry hair;
nail problems.

In the vast majority of cases, heart failure occurs. The endocardium and myocardium, valves, arteries are changing. The size of the heart is abnormally enlarged.

Diagnostics

prenatal diagnosis. An enzymatic analysis of the cells of the amniotic fluid is done. After the birth of a child, diagnostic difficulties do not arise. Pathological mucopolysaccharides are found in the patient's urine.
X-ray examination. Changes are immediately visible: the skull is enlarged, cranial sutures close prematurely, hydrocephalus may occur. Characterized by dolichocephaly. Pronounced jaw deformity. The lumbar vertebrae are damaged.
Laboratory research. A biochemical blood test does not always give the desired result.
Differential diagnosis. Practically not required. Patients suffering from gargoylism are strongly distinguished by external signs.

Treatment

Treatment methods are very specific:

surgical correction of glaucoma;
stem cell transplant;
correction of heart failure.

At arterial hypertension vasodilators are prescribed. With a diagnosis of "valvular dysfunction" (severe form), prosthetics are recommended. When a valvular lesion is fixed, infective endocarditis is prevented. Hormonal preparations (thyroid hormones, ACTH) are also used. Symptomatic treatment involves taking enzymes, vascular preparations, hepatoprotectors and vitamins.

The human foot is the main link in the support of the body. The area of the foot is approximately 1% of the total body surface. But it is she who is subject to the main load, equal to the weight of the human body. The foot has several functions: balancing, supporting, cushioning. Under the influence of various factors, its arch is subject to deformation, a disease such as transverse flat feet appears. As a result, the sole worsens its cushioning properties, which is accompanied by various complications.

- Classification of foot injuries
- Symptoms of the disease
Longitudinal flatfoot
Differences in children's flat feet

What is the danger of flat feet?
Prevention of flat feet in adults and children

What is flatfoot? General information

human foot consists of 26 bones, which are connected to each other by ligaments and joints, for the movement of which the muscles and tendons are responsible. The foot of a healthy person has two arches: longitudinal and transverse, which are located in the area of \u200b\u200bthe inner edge of the sole and the bases of the fingers. While walking, a person does not fully rest on the foot. Usually 3 points work: the area of \u200b\u200bthe thumb and the base of the little finger, as well as the calcaneus. If the muscles and ligaments of the foot weaken, then its shape begins to change, which eventually becomes flat. While walking, a person has to rest the sole completely on the surface. As a result, shock-absorbing properties worsen, flat feet appear.

The arches work like levers or springs, creating comfortable movement with minimal consequences for the body. Damage this site entails disruption of the entire system, and, as you know, the body is a single whole. Any changes in the operation of one system will certainly affect the operation of another. Flat feet can lead to spinal deformity, damage to the knee and femoral ligaments. When the foot cannot cope with its tasks, they move to the organs that are higher. femoral, knee joints and the spine are not adapted to this load, so they wear out quickly.

Classification of foot injuries

The foot has 2 arches. Therefore, the classification of the forms of the disease is quite logical - transverse and longitudinal flat feet. There is also a combined variant of the disease.

The classification of the disease also includes definition of congenital and acquired flat feet. The latter case is very rare and appears as a result of abnormal development of the fetus. Acquired flat feet manifest at any age. Moreover, it is divided into several types:

rickets (appears due to lack of vitamin D);
static (appears due to a decrease in muscle tone);
traumatic (occurs due to fractures and damage to bones);
paralytic (appears due to polio).

Symptoms of the disease

Symptoms of flat feet appear gradually. The first symptom of the disease is strong pain in the legs at the end of the working day. By evening, the legs and soles swell, convulsions often occur. It is difficult for women to walk in high shoes. Due to the increase in the size of the foot, old shoes should be discarded and purchased in a larger size. Over time, the pain syndrome moves higher, to the hip and knee joints. These symptoms are not only an indicator of flat feet. Signs of a similar nature also occurs with varicose veins but the treatment of this disease is completely different.

Flat feet is a serious disease that is characterized by deformity of the foot. IN Everyday life few people pay attention to this defect. Knowing the features of flat feet is necessary in order to take timely measures to correct it. The causes of the disease are either internal or external. Given the modern pace of human life and neglect of your wardrobe, often flatfoot has a mixed shape. Even your favorite sneakers can provoke flat feet, as their soles have excellent cushioning. Sneakers take on the entire load, securing the heel. As a result, the muscles weaken, all the prerequisites for the development of flat feet appear.

From internal causes diseases, it is necessary to identify several provoking factors. First of all, it is the presence of concomitant diseases. Among them, the first place is rheumatoid arthritis. It affects the ligaments and cartilage responsible for supporting the foot. Mechanical damage and leg injuries also contribute to the development of flat feet.

The action of external causes is very easy to prevent if you take care of your health and carefully choose shoes. Among the exogenous factors diseases can be classified as:

insufficient activity;
wrong shoes;
pregnancy and hormonal disorders.

Longitudinal flatfoot

With this type of flat feet, the foot increases in length due to the lowering of the longitudinal arch. As a result, the sole completely touches the floor. The main symptom of the pathology is a decrease in the gap between the floor surface and the inner edge of the foot. People with this diagnosis gradually develop clubfoot.

There are 3 stages of longitudinal flat feet:

With this type of flat feet, the length of the foot becomes smaller, the middle toe is deformed, and the big one deviates. A bump-shaped seal forms at the base of the first finger.

There are 3 stages of transverse flatfoot. Transverse deformation is classified angle of deviation of the big toe on the sole of the feet.

The first stage is a mildly pronounced transverse flat foot. Symptoms of the disease appear with the progression of the disease. Deviation of a finger no more than 20 hail. Pain after physical activity.
At the second stage, the deviation of the finger is already 35 degrees. When loaded, there is a burning sensation in the area of the sole.
The third stage of the disease is characterized by constant pain. Deviation of the finger more than 35 degrees. Some people may develop bursitis.

Differences in children's flat feet

The leg of children under 5 years old is fragile and is in the process of formation. Therefore, adults have a huge responsibility. They are obliged to prevent the disease, recognize it in time and treat it.

There are some points that adults must pay attention to:

children's complaints pain in the legs after active games;
unevenly worn shoes;
the arches of the feet became more dense.

If the child began to move less, the gait has changed, then you need to consult with an orthopedist. The doctor can identify flat feet at an early stage. Treatment and symptoms this disease children almost do not differ from adults. There is only one feature, it is reversibility of pathology. With gradual maturation, a natural disposal of flat feet occurs. The leg is fully formed at the age of 14. Until this time, you need to focus on physical activity (walking, running). So, the muscles will develop correctly, and the foot will receive a normal shape.

Many people do not pay attention to flat feet, ignore the first signs. In fact, this is a fairly rapidly developing and serious pathology, almost untreatable. Flat feet can be completely cured only in childhood until the foot is fully formed.

In adults, treatment is aimed at slowing the progression of the disease and prevention of related complications. Treatment of flat feet is complex. Progressive transverse/longitudinal flat feet are stopped for the patient, pain syndrome is eliminated, muscles are strengthened. The treatment and symptoms of these types of disease are almost the same. Next, we will take a closer look at modern methods of treatment.

Medications along with physiotherapy can relieve pain. The patient is prescribed systemic analgesics (Aspirin, Ibuprofen), as well as ointments for local use (Voltaren, Dolgit).

The therapy is based on physiotherapy. A set of classes is chosen by an orthopedist, taking into account the age of the patient and the stage of the disease. Foot massage has an excellent therapeutic effect. Regular procedures will help increase muscle tone, normalize blood circulation. Alas, all of the above methods of treatment are effective only at the initial stage of the disease. With significant deformities of the foot, only one way can help - surgery.

The treatment of flat feet in children needs a different approach. As a rule, longitudinal flat feet are determined in children (that this deformation should not be left without due attention, all parents must know). With timely detection of flat feet, it responds well to treatment. By the way, the muscles and ligaments of children are susceptible to conservative treatment. A positive result is given by massage and exercise therapy. If children have congenital flat feet, then its treatment begins from the moment of birth, for which special splints and bandages are used.

What is the danger of flat feet?

The human body works as a whole. Between all organs there are both functional and anatomical connections. During flat feet appears center of gravity shift. To maintain balance, a person needs to constantly deviate in opposite side. After a certain time, the deformation increases, and the back is significantly rounded. Flat feet and poor posture have similar developmental symptoms. This is muscle weakness and connective tissue as well as obesity. At healthy people The feet act as a shock absorber. During flat feet, it is lost. As a result, a large load is placed on the knees and spine, which leads to an even more pronounced curvature of posture.

Foot deformity can lead to appearance of other complications, among which:

curvature of the fingers;
clubfoot;
ingrown nails;
dystrophic changes in the legs;
heel spurs.

Also, in children with this diagnosis, depreciation of the foot is impaired. As a result, the vibration of the body during movement passes to the spine and lower legs. Joint irritation can lead to inflammatory processes arthrosis appears. The impact of foot deformity on the spine affects its curvature. The child is constantly tormented by pain in the head and legs, his school performance and ability to work are deteriorating.

Prevention of flat feet in adults and children

To prevent the appearance of flat feet, it is necessary to periodically do its prevention. For starters, orthopedists advise pay attention to shoes. Now in almost any store you can buy special orthopedic insoles and shoes. The choice of these products for children is simply amazing in its diversity. Do not forget that insoles and shoes will not be able to cure foot deformity. They only prevent the appearance of flat feet.

Useful for strengthening muscle tissue contrast baths. You need to take turns dipping your feet in basins of hot and cold water . In addition, regular intake of natural microelements (calcium, selenium, copper) and vitamins (A, E, C, D) will contribute to muscle strengthening.

The treatment of such a disease as transverse flatfoot is based only on the individual characteristics of a person: involvement in the vascular process, changes in the phalangeal joints, intensity pain syndrome etc. So, the treatment tactics can differ significantly in different people, this requires professional intervention and absolutely excludes self-treatment.

The sunken chest (hollow chest, pit, shoemaker's cage) in men is characterized by serious clinical changes. It is accompanied by cosmetic defects that can only be corrected by surgical methods.

The fossa on the sternum in men negatively affects the figure. Due to such changes, psychological complexes are formed in a teenager during puberty. At the age of 14-17 effective treatment disease cannot be carried out, since the ribs and spine have not yet completed their formation. After 20 years, cartilage structures are replaced by bone structures due to the deposition of calcium salts in them.

The condition is dangerous not only with cosmetic defects, but also with a malfunction internal organs. Improper functioning of the lungs, frequent colds and heart rhythm disturbances are common consequences of the disease.

How pathology is formed in children

A sunken chest occurs in 0.001% of the population. Pathology belongs to the category of congenital. It is associated with hyperplasia of the bone and cartilage structures of the ribs and sternum. Due to the violation of the formation of the bone and cartilage structure, a peculiar shape of the breast occurs. It flattens in the anterior-posterior and liver direction. A dimple in the sternum (depression) is inherited and is common in men.

The disease is provoked accelerated growth ribs and cartilage. Deformation is asymmetric, and its degree of severity fluctuates significantly.

A hollow in the chest causes negative changes in the internal organs. A concave chest leads to increased pressure on the heart and lungs. The respiratory function of the lung tissue is impaired against the background of pathology, which leads to an increase in the frequency of respiratory movements and heart rate.

Pathological changes in the bronchial tree lead to frequent inflammation in the lungs, colds and painful sensations in the chest.

Retraction of the chest in a newborn can be detected not immediately after birth, but after a few weeks. When the bone-cartilaginous skeleton gets stronger, its structure can be clearly seen during external examination.

If a pit is found on the sternum in a newborn, treatment of the pathology should be started immediately. On the initial stages exercises, physiotherapy, massage, wearing orthoses will prevent the formation of a breast funnel.

Exercises

Exercises to eliminate the funnel chest in a newborn are prescribed to correct sunken deformity. So, strengthening the pectoral muscles will help correct the pathology. It is important to physical therapy a qualified specialist was engaged with the baby.

Hollow chest exercises should provide expansion chest cavity. When they are performed great importance should be given breathing exercises. Aerobic exercise and breathing procedures combined with cycling, swimming, skiing effectively expand the chest and push the intercostal joints apart.

Gymnastics for a concave sternum allows you to straighten the spinal column and eliminate the curvature of the ribs.

Therapeutic gymnastics in a newborn child should be aimed at training the respiratory muscles. Gymnastic exercises for a child may be:

put the baby on your stomach. Press his legs to your chest and return to the starting position. The number of repetitions - 5-10 times;
take and spread the child's arms to the sides and return them to the chest. The number of repetitions - 5-10 times;
a one-year-old child with a concave chest should be allowed to hold toys in his hands in order to strengthen the muscular frame of the back.

After receiving positive results you can increase the frequency and amplitude of movements.

Retraction of the sternum in a baby is best treated in the early stages. If the disease persists for school years, then it will provoke defects in the appearance of the child.

The fossa of the sternum in a newborn child adversely affects the development of the body. Over time, the pathology leads to compression of the heart and lungs. Against this background, the baby has frequent colds, pneumonia, congestive changes in the chest cavity. And with the growth and development of the body against the background of the disease, a curvature of the spinal column will begin to form.

Therapeutic tactics that are used in case of illness should not only be aimed at removing deformed cartilage and ribs, separating the intercostal muscles from the sternum and correcting its concavity. In the initial stages, exercises are used that are aimed at restoring the tone of the skeletal muscles.

However, with the help therapeutic gymnastics and physiotherapy can only prevent the progression of the disease. To eliminate the sinking, it is necessary surgical intervention. Consider the methods surgical treatment deformities of the chest and ribs.

Operational Methods

With a depressed chest in men, specialists usually use the following surgical techniques:

minimally invasive Nass method - used for about 10 years. Today there is no safer and more effective alternative to this method. It is based on the introduction of metal plates that correct the chest defect. In men, they are set for 3-4 years, and in children of school age - for a longer period;
thoracoplasty according to Urmonas, Ravich and Kondrashin - allows you to normalize the state of the costal-sternal joint without the use of artificial fixators;
surgery using external fixators according to Bairov, Gafarov, Marshev, Gross - belongs to the category of magnetosurgical corrections. The technique involves the use of external fixators;
rotation of the sternum at an angle of 180 degrees or a coup on a muscular leg according to the Taguchi method - involves the preservation of the vascular bundle;
with a depressed chest of the 1st-2nd degree, artificial implants can be used to eliminate curvature of the sternum and ribs;
the installation of internal fixators by the Timoshchenko and Rekhbein operative method can significantly reduce the patient's rehabilitation time, but when using this method, repeated access to the chest cavity is difficult.

In children surgery possible only after 6 years. Until this time, the sunken chest is treated conservatively.

Chondrodystrophy
Hurler syndrome