Wide bridge of the nose in a baby. Types of birth defects and deformities of the nose - treatment of nasal abnormalities in newborns and child care

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Not all parents know that strabismus in infants is often physiological norm. In order to understand when you should immediately go to the doctor with such a problem, and when you should not worry, you need to understand why this happens.

What is the norm?

In an adult, the axes of the eyes normally coincide completely. Deviation from this is called strabismus, or strabismus. There is another clinical name - heterotropia. There are two main types of strabismus:

Converging. In this case, one or two eyes slant towards the bridge of the nose. In infants this is exactly the type observed (in 90% of cases).
Divergent. One or both eyes move towards the temple.

As a result of the fact that the newborn baby often experiences weakness oculomotor muscles, for this reason heterotropia develops.

At birth, he does not always have access to control over the movement of his eyeballs. It is important for parents to know when this phenomenon occurs, since such a process cannot be started.

Only 9% of seven-year-old children of the total number of children with strabismus persist. Over time, the eye muscles become stronger, and there is no longer any reminder that the baby had strabismus.

The structural features of the skull bones and the wide bridge of the nose also lead to the fact that the child has some deviation. It goes away in a few months.

Causes of pathological strabismus

But there are a number of cases in which normalization does not occur. The causes of this pathology may be:

birth complications;
lack of oxygen during intrauterine development;
infection and intoxication of the fetus;
previous measles, scarlet fever or influenza;
neurological abnormalities;
hereditary predisposition;
improper placement of toys above the bed.

Psycho-emotional stress (screaming, bright light, etc.) can lead to the temporary appearance of strabismus in a newborn.

If strobism is observed for more than six months, it leads to impaired visual acuity and the development of amblyopia.

When to go to the doctor?

Despite the fact that strabismus may go away a month after birth, or three, it is normal in six month old baby this phenomenon should not be observed.

It is at this age that strabismus is considered a pathological condition and is a reason to consult a doctor.

Distinguish the following types diseases:

by time of appearance - congenital or acquired;
permanent and temporary;
one-sided or alternating;
convergent, divergent and vertical.

Separately, we should highlight the paralytic type, in which the eye does not move in a certain direction as a result of damage to a muscle or nerve.

How to prevent the disease?

To prevent strobism from causing vision loss, there is prevention of strabismus in infants.

If a baby has strabismus at the age of one month, then you need to do the following:

Hang bright toys above the center of the crib at such a distance that the baby would not be able to reach them with his hand.
Toys should only be large sizes.
Do gymnastics to strengthen the eye muscles. For this purpose, you need to take a large and bright rattle and move it from side to side so that the baby follows it with his eyes.
At the age of two months, undergo a scheduled examination by a specialist and follow all his recommendations.

Treatment

On this moment There are 25 types of strabismus. For this reason, only a specialist should treat it. In each case, only an individual approach is applied.

Such a disease should not be neglected, as vision may gradually decrease sharply.

Once diagnosed, treatment is as follows:

Until all symptoms are completely eliminated, the child is given corrective glasses or soft lenses.
To improve the functioning of the affected eye, the occlusion method is used. It consists in closing for a while healthy eye, make sick work.
A variety of techniques are used to restore binocular vision.
If the child turns four years old, then orthopedic and acupuncture are used in complex treatment.

When found paralytic form Strobism requires consultation with a pediatric neurologist!

If there is no effectiveness, the doctor may recommend surgery. It is carried out under general anesthesia. After this, the child undergoes rehabilitation and strengthens the eye muscles with the help of special exercises.

The presence of strabismus in a newly born baby is not a reason to panic; for the first few months of his life he cannot focus his gaze.

But in most cases, by 4-6 months this phenomenon disappears without leaving a trace. Proper prevention will help avoid the transition of physiological strabismus to pathology.

Thirty-three inherited growth retardation disorders have been reported. Attention is drawn to their phenotypic similarity and the real difficulties of distinguishing them from each other. It is proposed to distinguish two groups and tables of differential diagnosis.

Substantial part hereditary pathology childhood clinically expressed by a sharp retardation of children's growth. The variety of nosological forms and the relatively low frequency of many of them create great difficulties in the process of differential diagnosis of these conditions.

From the standpoint of differential diagnosis, it is advisable to divide a large group of diseases into separate subgroups - growth retardation against the background of a sharp disproportion of the skeleton and growth retardation with a proportional shape of the skeleton.

A. Differential diagnosis diseases accompanied by stunting and severe skeletal disproportion

This group is extremely heterogeneous. It includes diseases classified according to the classification of M.V. Volkov, E.M. Meersov et al. to epiphyseal dysplasia - pseudochondroplasia, etc.; physeal - achondroplasia, etc.; spondyloepimetaphyseal - parastrematic dysplasia, etc.; diaphyseal dysplasia - imperfect bone formation, etc.; representatives mixed forms systemic diseases skeleton - Ellis-van-Creveld disease; mucopolysaccharidoses.

Most nosological forms are characterized by the manifestation of clinical signs from birth or from the first months of life. In a number of diseases (Seckel syndrome, Russell-Silver syndrome, etc.), children are born with a short body length. Below is a brief clinical characteristics diseases.

Achondroplasia. Dwarfism with pronounced shortening of the limbs. Pronounced frontal tubercles. Sunken bridge of the nose. Prognathism. Waddle, "duck" gait. Lumbar lordosis. In most cases, patients have normal intelligence.

X-ray findings: shortening of the proximal parts of the limbs. Kyphosis. Shortening of the femoral neck. Elongation of the fibula. Narrowing of the distance between the roots of the arches of the lumbar vertebrae. Frequency - 1: 10.000. Type of inheritance: autosomal dominant. About 80% of cases are sporadic (fresh mutations). Average age fathers of probands increased.

Hypochondroplasia. Growth retardation is mainly observed after 3-4 years. Sharp shortening of the limbs. Face without pathological features. Wide rib cage. Lordosis. Sometimes - slight flexion contractures in the elbow joints.

Rg - shortening of the limbs, some lengthening of the fibula, wide hands, disruption of the structure of the vertebral bodies. The type of inheritance is autosomal dominant. An increase in the age of fathers was noted.

Parastrematic dysplasia. Sharp growth retardation (average adult height 90-110 cm) in combination with multiple skeletal deformities. There is a "twisting" of the bones around the axis. Short neck. Kyphoscoliosis. Varus and valgus deformities of the legs. Multiple contractures of large joints.

Rg - coarse trabecular bone structure with areas of dense dots and streaks - “flaky” bones. Zones of enchondral ossification are transparent and expanded. The vertebral bodies are flattened. The pelvic bones are dysplastic. The metaphyses and epiphyses of the tubular bones are deformed. The type of inheritance is autosomal dominant.

Langer's mesomelic dysplasia. A sharp retardation in growth with pronounced shortening of the limbs, especially the forearms. Intelligence preserved.

Rg - hypoplasia of the ulna and fibula.

Type of inheritance: autosomal dominant.

Rhizomelic dysplasia. Growth retardation with sharp shortening of the proximal limbs. Microcephaly. Low nasal septum. Mental retardation. 70% of patients have cataracts. Multiple joint contractures.

Rg - vertebral dysplasia. Disturbance of the trabecular structure of long bones. Curvature of tubular bones.

Type of inheritance: autosomal dominant, autosomal recessive.

Camptomelic dysplasia. The name comes from the Greek words: kamptos - bend, melos - limbs. Prenatal growth deficiency. The length of children at birth is 35-49 cm. A small face with a low nasal septum. Dolichocephaly. Disproportionally short limbs. Hypoplasia of the scapula. Kyphoscoliosis.

Rg - curvature of the tibia, shortening of the fibula. Thin, short collarbones. Incomplete development of cartilage. The type of inheritance is autosomal recessive.

Diastrophic dysplasia. The name comes from the geological term diastrophism, referring to the processes of bending earth's crust, as a result of which mountains and oceans are formed. Prenatal growth deficiency. Severe growth retardation in later life. Significant shortening of the limbs. Kyphoscoliosis. Clubfoot. Limitation of movements in the finger joints. Sometimes there is a cleft palate, hypertrophy of the ear cartilages, and subluxation of the cervical vertebrae.

Rg - calcification and ossification of ear cartilage. Ankylosis of the proximal interphalangeal joints. Shortening and thickening of tubular bones. Subluxation of the hip joint. The type of inheritance is autosomal recessive.

Metatrophic dysplasia. Severe growth retardation with shortening of limbs. Narrow chest with short ribs. Kyphoscoliosis. Limitation of joint mobility.

Rg - platyspondyly, increase in intervertebral spaces. Wide metaphyses. Hypoplasia of the pelvic bones. The type of inheritance is autosomal recessive.

Pseudoachondroplasia. Growth retardation is observed mainly in the second year of life. The height of adults does not exceed 130 cm. There is a sharp shortening of the limbs, especially the proximal parts. Kyphoscoliosis. Lordosis. Rocking gait. Hallux valgus and viral deformity lower limbs. Increased joint mobility. There are no anomalies of the face or skull.

Rg - wide pelvis. Wings iliac bones rectangular. The femoral heads are small. The epiphyses are small, the metaphyses have uneven contours, with areas of rarefaction. Delay in the formation of ossification nuclei of the carpal bones. Type of inheritance: the disease is genetically heterogeneous, both autosomal dominant and autosomal recessive forms are found.

Schmid's metaphyseal chondrodysplasia. This is the most common form of metaphyseal chondrodysplasia. Moderate growth retardation (adult height - 130-160 cm). The first signs appear in the second year of life. Significant varus curvature of the legs. "Duck" gait. Lumbar lordosis. Rg - changes in the metaphyses of tubular bones, especially the lower extremities - the contours are uneven, fringed, extensive zones of uneven rarefaction. The type of inheritance is autosomal dominant.

Imperfect bone formation. One of the most common and well-known hereditary lesions skeletal system. The pathology is genetically heterogeneous. It is divided into various clinical and genetic types, the main of which are - congenital form(type B roller) and late (Lobstein syndrome).

Congenital form of Vrolik- prenatal growth deficiency. Multiple intrauterine and postnatal fractures, especially affecting long bones, ribs and clavicles. Secondary deformation and shortening of the bones of the limbs. Blue sclera. Megacephaly. Late closure of fontanelles and skull sutures. Extreme softness - “rubbery” quality of the skull. The course is severe, usually children die in the first months of life. The type of inheritance is autosomal recessive.

Late Lobstein form- pathological fragility of bones. Growth retardation. Blue sclera. Hearing loss. Keeled or funnel-shaped deformity of the chest. Kyphosis. Deformation of the pelvic bones. Saber shins. Dentin hypoplasia. Increased joint mobility.

Rg - thinning of the compact layer of tubular bones. Osteoporosis. The type of inheritance is autosomal dominant.

Bloom's syndrome. Prenatal growth retardation is combined with skin changes. Congenital telangiectatic erythema in the form of a butterfly is observed on the face and forearms. Sharply increased light sensitivity skin. There are areas of skin hyperpigmentation and café-au-lait spots. Small narrow face. Premature wrinkles. Hypogenitalism, cryptorchidism. High timbre of voice. The type of inheritance is autosomal recessive.

Ear-palato-finger syndrome. Growth retardation. Violation of psychomotor development and speech development. Prominent forehead. Hypertelorism. Anti-Mongoloid eye shape. Small nose and mouth. Cleft palate. Conducted deafness. Widely spaced toes. Limitation of movements in the elbow joints due to subluxation of the radial head.

Rg - hypoplasia facial bones.

Type of inheritance: recessive, linked to the X chromosome.

Weil-Marchesani syndrome. Growth retardation. Brachycephaly. Hypoplasia of the upper jaw. Hypodactyly. Gothic palate. Brachydactyly. Lens subluxation, secondary glaucoma. The type of inheritance is autosomal recessive.

Ellis van Creveld disease. (Chondroectodermal dysplasia). Dwarf stature with normal body length and shortened limbs. Polydactyly. Hypoplasia of teeth and nails. Alopecia. Sometimes - congenital heart defects. Short upper lip.

Rg - shortening of the distal limbs. Slow development of ossification nuclei. Polydactyly, Multiple exostoses. The type of inheritance is autosomal recessive.

Mucopolysaccharidoses. Diseases are hereditary disorders metabolism of glycosaminoglycans and belong to storage diseases - lysosomal diseases. A number of types of mucopolysaccharidoses are clinically characterized systemic damage musculoskeletal system. This differential diagnostic group includes those with clearly defined growth disorders.

Hurler syndrome. Caused by a defect in the enzyme iduronidase. Clinically manifested from the first months of life. Sharp deformations of the skeleton and skull. Rough facial features. Hypertelorism. Epicanthus. A wide nose with a flattened bridge and everted nostrils. Big and thick lips. Often open mouth, large tongue. Small, widely spaced teeth. Chronic rhinitis. Severe growth retardation. Short neck. Kyphosis with a hump in the lower thoracic and upper lumbar region. Big belly. Hepatosplenomegaly. Wide brushes with short fingers. Flexion contractures. Mental retardation. Inguinal and umbilical hernias. Hirsutism. Cloudiness of the cornea. Deafness.

Rg - cuboidal vertebral bodies. Kyphosis. Thickening of the collarbones and shoulder blades. Deformation of the pelvic ring. Flattening, reduction of the femoral heads. Delay in the formation of ossification nuclei. Severe deformities of the facial bones. Increased urinary excretion of dermatan sulfate and heparan sulfate. The type of inheritance is autosomal recessive.

Hunter syndrome. Caused by iduronate sulfatase deficiency. Clinical signs appear at 2-4 years of age. Growth retardation. Moderate bone deformities. Rough facial features. Hypertelorism. Flat bridge of the nose with large nostrils. Thick lips. Macroglossia. Widely spaced teeth. Short neck. Joint contractures occur. Deafness. Mental retardation. Hepatosplenomegaly. Abdominal hernias. Hypertrichosis.

Rg - changes similar to Hurler syndrome, but less pronounced. Increased urinary excretion of dermatan sulfate and heparan sulfate. Type of inheritance: recessive, linked to the X chromosome.

Morquio syndrome. Caused by a deficiency of the enzyme chondroitin-6-sulfate-N-acetylglucosamine-4-sulfate sulfatase. Clinical symptoms appear at 1-3 years of life. Growth retardation. Significant deformations of the skeleton, especially the chest. Wide mouth. Protruding upper jaw. Short nose. Widely spaced teeth. Short neck. Kyphosis. Sharp carinatum deformity chest. Movement in the joints of the upper limb is limited. Valgus deformity legs and feet. Intelligence is normal. Cloudiness of the cornea. Hearing loss. Tendency to colds. Hernias. Hepatomegaly. Cardiopathy (sometimes).

Rg - platyspondyly. Severe osteoporosis. Kyphosis, scoliosis. Dental hypoplasia. Expansion of metaphyses. The femoral heads are flattened and fragmented. Delay of ossification nuclei of the wrist. Cone-shaped narrowing of the proximal ends of the metacarpal bones. Increased urinary excretion of keratan sulfate. Type of inheritance: autosomal recessive.

Maroteaux-Lamy syndrome. Caused by a defect in the enzyme arylsulfatase. The first clinical signs appear at 1-3 years of life. Severe growth retardation. Macrocephaly. Rough face. Hypertelorism. Big nose, thick lips. Macroglossia. Short neck. Barrel chest. Kyphosis (sometimes). Flexion contractures in joints. Valgus deformity of the legs. Clouding of the cornea leading to blindness. Deafness (sometimes). Inguinal, umbilical hernias. Hepatosplenomegaly. Intelligence is unchanged.

Rg - deformation of the pelvic ring. Thinning of the femoral neck. Round biconvex shape of the vertebrae, concave posterior surface of the lumbar vertebrae. Increased urinary excretion of dermatan sulfate. Type of inheritance: autosomal recessive.

B. Differential diagnosis of diseases accompanied by severe growth retardation with a proportional skeletal shape

The vast majority of diseases included in this differential diagnostic group are characterized by low height at birth. In the future, as children develop, the growth retardation increases, but the physique remains proportional.

Pituitary dwarfism. Caused by dysfunction of the pituitary gland. The totality of data of modern clinical genetics and endocrinology made it possible to establish that there are several various forms pituitary dwarfism.

Pituitary dwarfism, type I. It has now been established that the disease is caused by (isolated) growth hormone deficiency. A sharp retardation of growth, which becomes especially obvious in the first 2 years of life. Thick skin. Subtle voice. The type of inheritance is autosomal recessive.

Laron's disease. Patients had clinical signs of growth hormone deficiency with elevated level of this hormone in the blood serum. In this case, the formation of somatomedin in the liver appears to be affected.

Cornelia de Lange syndrome. Severe growth retardation. Brachycephaly. Microcephaly. Dense, fused eyebrows, long eyelashes. Hirsutism. Hypertelorism.

Short nose, sunken bridge. The distance between the nose and upper lip has been increased. Low hair growth on the forehead and back of the head. A bluish tint to the skin in the area of the eyes, nose, lips, due to increased venous pattern. Small hands and feet. Clinocamptodactyly (sometimes). Contractures of the elbow joints. Mental retardation.

Rg - cone-shaped epiphyses, hypoplasia of the radial head, horizontal arrangement ribs Frequency among newborn children: 1: 30.000-1: 50.000. Type of inheritance: unclear, polygenic inheritance possible. Most cases in pedigrees are sporadic.

Seckel syndrome. Prenatal growth deficiency. Microcephaly. Narrow face. Low position ears. Nose in the shape of a bird's beak. Micrognathia. Coarse hair. Keeled chest. Scoliosis, kyphosis. Clinodactyly. Subluxation of the hip joints. Mental retardation, negativism, tearfulness. Malformations of the kidneys, liver, genitals. Hypergammaglobulinemia. Hyperaminoaciduria. Transverse groove on the palm.

Rg - digital impressions on the skull, lesser sella turcica. Hypoplasia of the radius and fibula.

Russell-Silver syndrome. Prenatal growth deficiency, later - its sharp lag. A small, triangular face with the corners of the mouth downturned. Hypoplasia of the lower jaw. Late closure of fontanelles and teething. Body asymmetry - hemihypertrophy or limb length asymmetry. Clinodactyly. Brachydactyly. Scoliosis, due to asymmetry of the torso. Cafe au lait spots on the skin. Precocious puberty.

Dubovich syndrome. Prenatal growth deficiency followed by retardation. Microcephaly. High forehead, wide nose with a flat bridge. Facial asymmetry (sometimes). Hypertelorism. Blepharophimosis. Ptosis. Micrognathia. Low position of the ears. Coarse hair. Polydactyly. Clinodactyly. Mental retardation (not always). High voice. On the skin - eczema and psoriasis. Hypospadias, cryptorchidism.

Rg - periosteal hyperostosis of long bones, various anomalies of the ribs.

The type of inheritance is autosomal recessive.

Rubinstein-Taybi syndrome. Short stature. Microcephaly. Hypertelorism. Prominent forehead. Ptosis. Strabismus. Long eyelashes. High palate. Beaked nose. Micrognathia. Anomalies of bite and position of teeth. Low position of the ears. Mental retardation. Wide terminal phalanges of the thumbs and toes. Brachydactyly. Polydactyly. Clinodactyly. Scoliosis. Hypermobility of joints. Cryptorchidism. Cataract, hypermetropia, optic atrophy (sometimes). Various vices internal organs. Transverse groove on the palm.

Rg - wide, thickened distal phalanges of the thumbs. Defects of the spine, sternum and ribs.

Type of inheritance: unclear. Most cases are sporadic.

Leprechuanism. Children are often born prematurely. There is marked retardation in height and weight. Microcephaly. Hypertelorism. Large, low-set, protruding ears. Grotesque facial features. Flat nose with wide nostrils. Large mouth with thick lips. Exophthalmos. Large hands and feet. Delayed psychomotor development. Cryptorchidism. Enlargement of the labia, clitoris. Umbilical, inguinal hernia. Skin folding. The course is severe - children usually die in the first year of life. Hyperinsulinemia. Low alkaline phosphatase levels.

Rg - delay in the formation of ossification nuclei.

Type of inheritance: autosomal recessive.

Smith-Lemli-Opitz syndrome. Prenatal growth deficiency followed by retardation. Microcephaly. Short snub nose. Increasing the distance between the nose and upper lip. Micrognathia. Cleft palate or uvula. Strabismus. Low position of the ears. Short neck. Syndactyly (cutaneous). Brachydactyly. Mental retardation. Pyloric stenosis, in early childhood vomiting is noted. Hypospadias, cryptorchidism. Transverse groove on the palm. Heart defects (sometimes). Hernias (sometimes). Type of inheritance: autosomal recessive.

Noonan syndrome. Growth retardation. Broad forehead. Hypertelorism. Ptosis. Epicanthus. Sad expression. High palate. Anomalies of teeth. Splitting of the tongue. Low position of the ears. Coarse hair. Low hair growth at the back of the head. Kyphoscoliosis. Clinodactyly. Autism. Wing-shaped fold on the neck. Delayed secondary sexual characteristics. Anomalies of the urinary tract. Hepatosplenomegaly (sometimes). Congenital lymphedema of the hands and feet. Karyotype is normal. Type of inheritance: autosomal dominant.

Hanhart syndrome. A sharp retardation of growth mainly from the second year of life. Obesity. Delayed secondary sexual characteristics. Delay in the formation of ossification nuclei. The type of inheritance is not clear.

Familial osteopetrosis. Growth disturbance. Macrocephaly. Prominent forehead. Ptosis. Strabismus. Anomalies of teeth, caries. Frequent multiple fractures. Deafness (sometimes). Cataract, atrophy optic nerve(Sometimes). Delayed psychomotor development. Hepatosplenomegaly. Anemia. Lymphocytosis.

Rg - diffuse osteosclerosis (marble bones). Partial aplasia distal phalanges. Type of inheritance: autosomal dominant, autosomal recessive.

Thus, among the hereditary forms of growth retardation, 33 diseases can be distinguished, each of which is relatively rare. These diseases have much in common phenotypic traits. The proposed differential diagnostic tables can greatly facilitate the differentiation of similar diseases.

Women's magazine www.

The child spends the first nine months of its development in the absolute darkness of the mother's womb. After birth, light fills the space around him, and over the next few months the baby tries to understand everything he sees.

First of all, he needs to learn to coordinate the movement of his eyes. True, this does not work for children immediately after birth. Most newborns cope within six weeks. Even if one eye continues to disobey, parents may not worry about this for up to three months.

Sometimes parents sound the alarm, suspecting their child has strabismus. This is especially noticeable when, when looking straight ahead, the baby’s eyes converge towards the bridge of his nose. The parents may be right, but perhaps this is due to the fact that the child's nose bridge is too wide. Folds of skin coming from upper eyelid to the bridge of the nose are called epicanthus, and if they are too wide, it can look a lot like squint. However, if these folds are turned inward towards the nose, the illusion of squint disappears and it becomes clear that the eyes move synchronously in the same direction.

With true strabismus, one eye moves independently and attracts attention when the child looks sharply to the side. Strabismus is usually inherited. Therefore, if one of the relatives has strabismus, the child should be under special supervision. Strabismus is usually caused by weakness in one of the six eye muscles that move the eye. eyeball. Although myopia or farsightedness can also provoke this deviation. You can determine strabismus by observing the reflection in the eyes of a bright, distant object, such as a window. With strabismus, this object will be reflected in only one eye.

In addition to the fact that strabismus does not decorate the face, it affects the child’s vision. The work of the brain is concentrated mainly on the healthy eye, and the oblique eye seems to remain unattended. If this eye is left untreated, the child may develop amblyopia, or blindness in one eye. Therefore, it is extremely important, upon discovering strabismus, to immediately begin its examination and treatment.

The type of strabismus described above is the most common. And it appears and then disappears. Sometimes both eyes move and look synchronously and in parallel, but sometimes one eye begins to deviate. Much less common is fixed strabismus, when the squinting eye constantly moves independently, separately from the healthy eye. In this condition, the most serious measures are necessary, since fixed strabismus often indicates a disease of the ocular media or central nervous system.

What can you do?

First of all, if you notice strabismus in a child, pay attention to the width of the bridge of the nose. This may not be true strabismus. In any case, before your child starts school, have his eyes checked by a doctor every year. If the doctor confirms strabismus, the child should be referred to a specialist.

What can a doctor do?

The most common cause of strabismus is weakness of one of the muscles that moves the eyeball. You can force weak eye work while covering your healthy eye with a bandage. Like all other muscles, the weak eye is strengthened by this training, and within a few weeks or months the weak eye begins to move normally.

In the most severe cases, surgery can be done to change the length. weak muscle so that the slanted eye does not lag behind the healthy one and works normally. Strabismus surgery is usually performed at age six or seven to prevent possible blindness in the affected eye. In cases of nearsightedness or farsightedness, glasses help to correct this lack of vision, which sometimes leads to strabismus.

If you don't know this yet, remember the following:

Up to three months, all babies experience strabismus.
Treatment of true strabismus is carried out only by an ophthalmologist.
Surgery to correct strabismus should be performed before the age of six or seven to prevent blindness in the affected eye.

Source: www.bhealth.ru

The most common signs of Down syndrome in newborns

In medicine, a syndrome is a set of symptoms that develop in a particular human condition. Such a complex common symptoms in the same patients, John Down noticed in 1866, after whom this syndrome was named. With Down syndrome, even at the stage of intrauterine anlage and fetal development, chromosomal disorder, but it was possible to identify the genetic cause and nature of this phenomenon only a century after Down discovered a pattern in the combination of identical traits.

Many symptoms of Down syndrome in a newborn child are noticeable from birth., and therefore experienced obstetricians are able to recognize the anomaly immediately when delivering birth to a woman. Moreover, this phenomenon is quite common: on average, Down syndrome is diagnosed in one out of 600-800 babies, and among all chromosomal abnormalities this is the most common.

Most children show the following signs from the first days of life:

the face looks flattened, flat compared to the faces of other newborns;
a skin fold forms on the neck;
a so-called “Mongolian fold” (or third eyelid) forms at the inner corner of the eyes;

the corners of the eyes are raised, the incision is oblique;
the earlobes are small, the auricles are deformed, the auditory canals are narrow;
“short” head (brachycephaly);
flattened nape;
muscle tone is reduced;
joints are excessively mobile, dysplasia forms;
limbs are shortened (compared to the limbs of other children);
the middle phalanges of the fingers are underdeveloped, and therefore all the fingers look short, and the palm looks flat and wide;
The child's height and weight are below average; with age, there is a tendency to gain excess weight.

Most of the differences are associated with deformations of the skull and facial features, as well as imperfections in the child’s muscular and skeletal systems. These are signs that occur in 70-90% of all newborns with Down syndrome. Less common, but still not uncommon, are external differences observed in approximately half of all Downies from infancy:

the child’s small mouth (jaw) remains open all the time;
The child is diagnosed with an arched narrow palate;
a large tongue protrudes from the mouth (due to a reduced size compared to regular sizes oral cavity and decreased muscle tone);
chin is smaller than usual;
the little finger is curved and usually bends towards the ring finger;
the formation of grooves (folds) in the tongue (appears as the child grows);
flat bridge of the nose;
the neck is shortened;
short nose, wide bridge;
a horizontal fold (“monkey line”) is formed on the palms - due to the merging of the lines of the heart and mind;
the big toe is located at a distance from the other toes (a sandal-shaped gap is formed), and a fold forms on the foot underneath it;
Upon further examination, defects of the cardiovascular system are often discovered.

What other signs of Down syndrome are there in newborns?

Just these signs described above may be enough to suspect Down syndrome in a newborn child. But there are still some external differences in such babies that “pop up” during a more detailed examination and examination of the baby, which may indicate this chromosomal disorder:

strabismus;
pigment spots along the edge of the iris of the pupils (“Brushfield spots”) and clouding of the lens;
a violation in the structure of the chest, it protrudes forward or sinks inward (keeled or funnel-shaped chest);
tendency to epileptic seizures;
stenosis or atresia duodenum and other defects of the digestive system;
defects of the genitourinary system;
congenital blood cancer (leukemia).

These signs occur in 8-30% of all cases. Also, a baby with this chromosomal abnormality may have an extra fontanel or the fontanelles do not close for a long time. But a newborn child with Down syndrome may also not have clear characteristic external features: differences will appear later.

It is noteworthy that children with Down syndrome are very similar to each other, like brothers and sisters, while it is impossible to recognize the parental features in their faces.

Making a diagnosis of Down syndrome in newborns

Most of the signs described in this article may accompany some kind of disease, other disorder, or even be a physiological norm, which is simply a feature of a newborn baby and has nothing to do with the described syndrome. Therefore, a diagnosis of Down syndrome cannot be made solely on the basis of the presence of one or another symptom or a combination of several of them. For an accurate medical conclusion, it is necessary to take a blood test for karyotype, and only this can confirm or refute the presence of this syndrome The child has.

Down syndrome has no gender preference: boys and girls are born with an extra chromosome equally often. But in addition to the features mentioned here, they have one more: experts say that downyats teach true love! No other child gives as much warmth, affection, sincerity, love and attention as they do. But these special children demand exactly the same amount from their parents in return.

Therefore, if mom and dad feel in themselves humanity, humanity, kindness and love, love for their flesh and blood, then there is no reason to be tormented in despair. Yes, you may have to put in a little more effort and energy than other parents need. But children with Down syndrome can live a full life, experience moments of joy and happiness, achieve success and victories! It’s just that their future depends almost entirely on you and me, adults. After all, it is not their fault that they were born special.

Especially for nashidetki.net - Margarita SOLOVIOVA

Source: nashidetki.net

Width of the upper third of the nose

Excessive width of the bridge of the nose is caused by nasal bones that are spaced too wide. They successfully distract attention from the eyes, creating a distinctive appearance for the owner non-standard nose. After rhinoplasty of the bridge of the nose, the emphasis automatically falls on the eyes.

Since a wide bridge of the nose is mainly due to a congenital defect, many people develop complexes due to this problem literally for life. But there are cases when the width of the bridge of the nose increases visually due to an injury or previous surgery, which is especially scary for some people, since this factor once again reminds them of what happened to them. The only solution to this problem is rhinoplasty.

A wide bridge of the nose visually not only makes the nose large and flattened. It also changes the expressiveness and attractiveness of the look. The overall impression of the face and how it looks when reflecting different emotions also changes.

How to eliminate a wide bridge of the nose?

The wide bridge of the nose is visible especially clearly from the frontal view. This problem appears due to excess bone tissue, width and thickness of its structure. Many try to hide this drawback by using great amount decorative cosmetics of different shades - foundation, blush, powder. But this is rather a temporary solution that will only create an optical illusion.

But the tricks of a makeup artist are not always able to fully help in solving this problem. That’s why you should consult a doctor and arrange for rhinoplasty of the wide bridge of the nose. This is done in one of three ways.

Osteotomy

Osteotomy, or controlled fracture of the nasal bones to move them closer together. This forces the nasal bones inward, narrowing the appearance of the bridge of the nose. To perform this procedure, an osteotome is used, a special medical cutter that allows sufficient mobilization and displacement of the nasal bones.

This procedure is most often done with the removal of a hump on the nose, even if the bridge of the nose itself was not wide before the procedure. This is done specifically so that when the first defect is removed, the second one does not visually manifest itself. This procedure has a second advantage: in addition to correcting the defect, it is possible to avoid the formation of a flat bridge of the nose.

An osteotomy removes segments of bone that were separated using an osteotome. The rips are made along the sides of the nose and look somewhat like holes around a postage stamp. This gap is controlled.

But if the patient has previously suffered an injury, then it is impossible to determine the fracture line. It is impossible to predict how the bone tissue will behave in this case. This can cause bone fragments to migrate. It leads to negative result. This is why you should definitely tell your doctor whether you have had any injuries in the facial area, even in early childhood.

Cartilage transplantation

A cartilage graft on the bridge of the nose makes it possible to change its configuration. This makes it possible to visually narrow it. It is better to use native cartilage taken from other parts of the body, but sometimes a synthetic analogue is also used.

If taken cartilage tissue patient, then only from the nasal septum or in the ribs. Ideally, take it on the ribs, since there it is most resistant to deformation. Ear cartilage too curved, which is why their use is gradually being abandoned. Moreover, they often change shape, creating unevenness on the bridge of the nose.

Set of methods

In some cases, the doctor combines both methods to achieve the best result. Typically, this approach is used for complex operations and when it is necessary to restore the structure of the nasal tissues after injuries or unsuccessful previous procedures.

Augmentation rhinoplasty

It is used if the nose has a wide and flattened shape, which is also called negroid. In this case, there is only one solution - to raise and enlarge the bridge of the nose. A kind of frame is installed under the skin in the right place, which creates the desired shape. For this purpose, the patient's own tissue is usually used.

Actress Jennifer Aniston once resorted to this procedure. Marilyn Monroe did not hesitate to seek such help at the very beginning of her career. This type of rhinoplasty was the first step in her own acting life for Halle Berry, who with her newfound appearance went to the star Olympus by leaps and bounds.

How does the healing process occur?

After surgery, this part of the face heals at about the same rate as any other bone tissue in your body. This depends on the characteristics of a particular organism, and therefore you will have to not only wear a special cast for some time, but also follow a number of rules and procedures.

During the healing process, the formation of initial material called callus occurs. It is he who brings the shape of the nose into normal condition after such an intervention. But the problem is that some patients return with indignation to the surgeon because of the increased callus at the site of intervention. In fact, the doctor is not to blame here, since this is truly a feature of a particular organism. In such cases, only minor corrections are needed.

Considering that the base of the nose has been changed, you may experience a feeling of stuffiness due to the narrowing. And at first, due to swelling, you may also experience a runny nose. The feeling of nasal congestion often occurs precisely because of the growth of bone tissue, which physically reduces the space allocated for the nasal cavity.

If the bridge of the nose remains wide

There have been a certain number of cases where patients complained of a wide bridge of the nose after rhinoplasty. This could be for a number of reasons:

The doctor performed the osteotomy inadequately or incorrectly.
Extremely wide nasal bones may require an intermediate osteotomy, which will only be a step in preparation for the final correction of the bridge of the nose.
Due to the wide horizontal sections of the nasal bones. By removing the medial parts of the nasal bone tissue, this problem is solved.

It is not always possible to get the ideal shape right away. If the doctor did not stipulate that this operation would be intermediate and this is not indicated in the contract, then this is a clear mistake by the surgeon. In this case, it is better to go to another clinic for revision rhinoplasty. But do not rush to sound the alarm until the swelling and bruising on your face completely disappears. Sometimes they create the effect of a wide bridge of the nose. Over the course of a year, the shape will become stable and you can adequately decide whether to schedule a repeat operation. According to the unspoken rule plastic surgeons, if the first plastic surgery was unsuccessful, then the second one is free, but it’s up to you to decide whether you should contact the same specialist.

After rhinoplasty of the bridge of the nose

Full healing occurs throughout the year. The doctor will tell you how rehabilitation is going in your specific case. But overall the process full recovery occurs in two stages. During the first, postoperative swelling on the face subsides. The speed at which this stage passes depends on whether there has been previous surgery in this area, as well as on whether there is scar tissue. No less important role is played by individual characteristics the patient's body.

If the patient has thin skin, tissue swelling may persist for months. People with thick skin can retain swelling for up to several years, during which the shape gradually changes. Once the swelling has gone down, healing continues. Scar tissue Over time it should shrink, lighten and become visually invisible. By the way, people with thick skin take much longer to recover.

It should be borne in mind that with a gradual reduction in the nose and skin envelope should gradually shrink, repeating anatomical shape. If the skin is thin and the nose is large, then this process can take many months. Therefore, dissatisfaction with one’s appearance in the early stages haunts literally all patients.

If the nose has been significantly reduced, then the skin may not recover to the desired size, creating a new deformation. That's why you should look for more qualified specialist, who during the first operation will take into account all the nuances and possible complications, after all similar problems solvable.

Waiting for a child is always shrouded in excitement, euphoria and mystery. Every mother looks forward to the first meeting with her child and firmly believes that this will be the happiest or one of the happiest moments in her life. But sometimes the turns of fate can be very sharp, and not everyone is able to stay in the saddle.

As soon as doctors delivering a baby or examining a newborn in the first days of his life suspect Down syndrome in a child, the hearts of the parents cannot find peace. We would like to immediately warn you that the presence of this pathology cannot be diagnosed solely by the appearance of the baby. However external signs Down syndrome are so characteristic that an experienced midwife can immediately discern them in a newly born baby.

The most common signs of Down syndrome in newborns

In medicine, a syndrome is a set of symptoms that develop in a particular human condition. Such a complex of common symptoms in the same patients was noticed in 1866 by John Down, after whom this syndrome was named. With Down syndrome, even at the stage of intrauterine anlage and fetal development, a chromosomal disorder occurs, but it was possible to identify the genetic cause and nature of this phenomenon only a century after Down discovered a pattern in the combination of identical characteristics.

Most children show the following signs from the first days of life:

the face looks flattened, flat compared to the faces of other newborns;
a skin fold forms on the neck;
a so-called “Mongolian fold” (or third eyelid) forms at the inner corner of the eyes;
the corners of the eyes are raised, the incision is oblique;
the earlobes are small, the auricles are deformed, the auditory canals are narrow;
“short” head (brachycephaly);
flattened nape;
muscle tone is reduced;
joints are excessively mobile, dysplasia forms;
limbs are shortened (compared to the limbs of other children);
the middle phalanges of the fingers are underdeveloped, and therefore all the fingers look short, and the palm looks flat and wide;
The child's height and weight are below average; with age, there is a tendency to gain excess weight.

the child’s small mouth (jaw) remains open all the time;
The child is diagnosed with an arched narrow palate;
a large tongue protrudes from the mouth (due to a smaller than normal size of the oral cavity and reduced muscle tone);
chin is smaller than usual;
the little finger is curved and usually bends towards the ring finger;
the formation of grooves (folds) in the tongue (appears as the child grows);
flat bridge of the nose;
the neck is shortened;
short nose, wide bridge;
a horizontal fold (“monkey line”) is formed on the palms - due to the merging of the lines of the heart and mind;
the big toe is located at a distance from the other toes (a sandal-shaped gap is formed), and a fold forms on the foot underneath it;
Upon further examination, defects of the cardiovascular system are often discovered.

What other signs of Down syndrome are there in newborns?

strabismus;
pigment spots along the edge of the iris of the pupils (“Brushfield spots”) and clouding of the lens;
a violation in the structure of the chest, it protrudes forward or sinks inward (keeled or funnel-shaped chest);
tendency to epileptic seizures;
stenosis or atresia of the duodenum and other defects of the digestive system;
defects of the genitourinary system;
congenital blood cancer (leukemia).

It is noteworthy that children with Down syndrome are very similar to each other, like brothers and sisters, while it is impossible to recognize the parental features in their faces.

Making a diagnosis of Down syndrome in newborns

Down syndrome has no gender preference: boys and girls are born with an extra chromosome equally often. But in addition to the features mentioned here, they have one more thing: experts say that downyats teach true love! No other child gives as much warmth, affection, sincerity, love and attention as they do. But these special children demand exactly the same amount from their parents in return.

Especially for - Margarita SOLOVIOVA

The concepts “congenital” and “hereditary” are not identical. Not everything “innate” is “hereditary”. Congenital pathology can occur during critical periods of embryogenesis under the influence of external environmental teratogenic factors (physical, chemical, biological, etc.) - embryo- and fetopathy. In this case, there is no damage to the genome, and the resulting disorders often completely copy the effect of the mutant gene (phenocopy). Hereditary disease As a result of the action of a mutant gene, it can appear not only from birth, but sometimes a long time later.

Risk factors for having children with developmental defects of various origins The following are considered: the pregnant woman's age is more than 36 years, previous births of children with developmental defects, spontaneous abortions, consanguineous marriage, somatic and gynecological diseases of the mother, complicated pregnancy (threatened miscarriage, prematurity, postmaturity, breech presentation, oligohydramnios and polyhydramnios).

Deviations in the development of an organ or organ system can be severe with pronounced functional impairment or cosmetic defect. They are detected during the neonatal period ( birth defects development). Small deviations in the structure, which in most cases do not affect normal function organs are called developmental anomalies, or stigmas of disembryogenesis.

Stigmas attract attention as constitutional features in cases where they have excess accumulation(more than 7) in one child give rise to such a syndromological diagnosis as dysplastic status.

Pheno- and genocopying, incomplete penetrance and expressivity of genes make it difficult to assess the nature of inheritance of individual anomalies in each specific observation, which determines the need to study the stigmatization of a child through a comparative analysis with the characteristics of his parents and relatives.

In hereditary and congenital diseases of the nervous system, as a rule, there is a significant increase in the number of stigmas, exceeding the conditional threshold by 2-3 times or more. There is a certain parallelism between the increasing level of stigmatization and the severity neurological syndromes, their tendency to convulsive reactions, liquorodynamic disorders and cerebral edema. Correct assessment of dysplastic developmental features allows a newborn to be classified as at risk for emergency conditions and take this into account when observing him.

The polyetiology of dysplastic constitutional developmental traits creates difficulties in their clinical assessment, since one or more stigmas may turn out to be:

variant of the norm;
a symptom of a disease;
an independent syndrome or even an independent nosological form.

List of dysplastic stigmas

Neck and torso: short, absent, wing-shaped folds; short, long, short collarbones, funnel chest, chicken chest, short sternum, multiple nipples, asymmetrically located nipples.

Skin and hair: hypertrichosis, coffee-colored spots, polymastia, birthmarks, discolored skin, shagreen skin; hair growth is low, hair growth is high, focal depigmentation.

Head and face: macrocephalic skull, dolichocephalic, tower, oxycephaly, scaphocephaly, cebocephaly, flat occiput; low forehead, narrow forehead, flat face profile, depressed bridge of the nose, transverse fold on the forehead, low eyelids, pronounced brow ridges, wide bridge of the nose, deviated nasal septum or bridge of the nose, cleft chin, microstomia, micrognathia, prognathism, receding chin, wedge-shaped chin, macrognathia, hypertelorism.

Eyes: microphthalmos, macrophthalmos, iris coloboma, macrocornea, microcornea, iris heterochromia, oblique eye incision, epicanthus.

Mouth, tongue and teeth: grooved lips, sockets on teeth, malocclusions, supernumerary teeth, saw-toothed teeth, awl-shaped incisors, inward growth of teeth, groove on the alveolar process, short palate, narrow palate, Gothic palate, vaulted palate, sparse teeth, stained teeth, tongue protrusion, forked tip, shortened frenulum, folded tongue, macroglossia, microglossia.

Ears: located high, located low, located asymmetrically, microtia, macrotia, additional, flat, fleshy ears, “animal ears”, attached lobes, absence of lobes.

Spine: additional ribs, skol^z, sacralization of Lv, dorsalization of TVn, vertebral fusion.

Hand: arachnodactyly, clinodactyly, short wide hands, curved terminal phalanges of the fingers, camptodactyly, oligodactyly, brachydactyly, transverse palmar groove, clinodactyly, sandal fissure, symphalangy, overlapping fingers, flat feet.

Belly and genitals: asymmetries in the structure of the abdominal muscles, incorrect location of the navel; underdevelopment of the labia and scrotum.

Some of the dysplastic developmental traits create serious developmental difficulties as the child grows. For example, a deviated nasal septum makes it difficult nasal breathing and creates the prerequisites for a number of features of the development of the central nervous system; malocclusions disrupt the act of chewing and create preconditions for dysfunction gastrointestinal tract; delayed development of the eyes and ears (impaired vision and hearing impaired children) due to impaired afferentation creates conditions for delayed maturation (myelination) of the central nervous system, etc. In other words, secondary morphofunctional changes in the body may occur on the basis of congenital hereditary microanomalies.

For many developmental defects there are no reliable differences between phenocopy and hereditary lesion. At the same time, determining the role of heredity and environment in the occurrence of this pathology, i.e., the “heritability” of a trait, is extremely important for the patient and his family.

All this emphasizes the need for careful collection of genealogical history, information about the course of ante-, intra- and postnatal periods, although identifying a specific damaging agent in specific cases is a very difficult task.

Mutational changes in heredity structures can occur at the chromosomal and gene levels.

According to WHO (1970), 1% of newborns are found to have chromosomal abnormalities; on average, 1% of all newborns (including stillborns) have signs of the influence of single mutant genes broad action and in 3-4% isolated anomalies determined by polygenic systems are recognized. In general, about 5% of newborns have a hereditary pathology.

Multifactorial defects include: congenital hip dislocation, clubfoot, cauda equina, nonunion hard palate And upper lip, anencephaly, congenital heart defects, pyloric stenosis, spina bifida, Hirschsprung's disease, etc. The effect of an increase in the frequency of a certain defect among close relatives of the proband has been clearly established, which best corresponds to the hypothesis of polygenic inheritance with a threshold effect.

Unlike monogenic (dominant or recessive) traits with full penetrance, when the risk of having the next sick child in a family is 50 or 25%, respectively, the risk of having a child with a polygenically inherited defect is variable. It increases as the number of affected people in the family increases, depending on the severity of the defect. For many malformations, there are marked sex differences in the incidence of the lesion.

In the neonatal period, gross structural and numerical chromosome abnormalities are usually diagnosed.

Chromosomal aberrations significantly affect the indicator perinatal mortality. Clinical manifestations they are variable: from small
developmental anomalies to gross, multiple defects incompatible with life.

The most common chromosomal aberration syndromes are:

Monosomy, CO (Shereshevsky-Turner syndrome) - short neck, pterygoid folds of the neck, lymphatic edema of the distal extremities, congenital heart defects (coarctation of the aorta, ventricular septal defect), etc. Subsequently, sexual infantilism, short stature, and primary amenorrhea appear.

The following trisomy syndromes are known:

1) 13-15 (Patau syndrome) - craniocephalic dysplasia (microcephaly, arinencephaly, agenesis of bone beams; cleft lip, mandible and palate; congenital deafness, developmental defects auricle; eye defects; heart and kidney defects; arthroglu-like changes in the fingers, polydactyly or four-fingered fingers; splitting of the abdominal walls; aplasia of the nasal bones;

2) 18-20 (Edwards syndrome) up to 75% of patients with this syndrome are female. Symptoms: intrauterine hypotrophy, craniofacial dysostosis in the form of a small skull compressed from the sides, a small forehead, low-lying and abnormally shaped ears, a small, triangular mouth; short neck, short chest, heart hump. The characteristic arrangement of the fingers is that they are bent, the index finger overlaps the middle finger, and the little finger overlaps the IV. Constant defects of the heart, kidneys, and digestive tract;

3) 21-30 (Down syndrome). Meet various options: mosaic, translocation. Diagnosis with typical clinical picture placed in the maternity hospital. Symptoms: oblique eye shape, wide flat bridge of the nose, flat nape, low hair growth, protruding tongue, one- or two-sided transverse groove of the palm, heart defects. Life expectancy depends on the addition of intercurrent diseases.

Trisomies 8+, 9+, 22+ are less common; others, such as Y +, X + (triple-X, Klinefelter syndromes), are diagnosed mainly in pre- and puberty, based on signs of eunuchoidism, decreased intelligence, and later infertility.

Syndromes caused by deletions: 4p-, (Wolf-Hirschhorn syndrome), 5p-, (cry-cat syndrome), 9p-, 13d-, 18d-, 18d-, 21d-, 22d-, have common features (prenatal malnutrition , various dysplastic signs of the skull, face, skeleton, limbs); later mental retardation develops.

Diagnosis of disaccharidase deficiency is based on a complex of laboratory and biochemical studies. Stool reaction is acidic (pH<5,0), высокое содержание молочной кислоты и крахмала. В зависимости от формы ферментопатии в моче и кале определяются лактоза, сахароза, мальтоза, глюкоза, галактоза. Ориентировочной качественной пробой служит проба Бенедикта на редуцирующие сахара в моче. Подтвердить диагноз возможно с помощью нагрузочных проб. Плоская сахарная кривая после пероральной нагрузки соответствующими моно- и дисахаридами указывает на неспособность их расщепления или усвоения организмом вследствие ферментопатии.

In some cases, hereditary pathology of carbohydrate absorption leads to a condition that threatens the life of the child.

Galactosemia is a disease with an autosomal recessive type of inheritance, which is based on the absence or varying degrees of decreased activity of the enzyme galactose-1-phosphate-uridyltransferase. As a result, galactose and galactose-1-phosphate (Ga-1-phosphate), which is toxic to the body, accumulate in the blood and a true glucose deficiency occurs. Hypoglycemia is also supported by the irritating effect of galactose on the insular apparatus and the suppressive effect of Ga-1-f on glucogenolysis.

The toxic effect of Ga-1-f damages the central nervous system, red blood cells, the lens of the eye, liver, and kidneys.

In severe cases, signs of the disease appear in the first days and weeks of life. The newborn is reluctant to accept milk. Anorexia, vomiting, bloating, dyspepsia, lethargy (hypoglycemic manifestations) and persistent jaundice are characteristic. At first, jaundice resembles physiological jaundice, but after the 5-6th day, instead of decreasing, it intensifies with an increase in the content of predominantly free bilirubin. The liver enlarges, and signs of cirrhosis appear (thick consistency, ascites, splenomegaly, etc.). The child is not gaining weight and height well. Typical neurological symptoms are lethargy, adynamia or agitation, anxiety, and convulsive syndrome. Brain swelling occurs. Sometimes symptoms of bleeding are added, since liver damage leads to hypoproteinemia and hypoprothrombinemia. In 25% of patients, hemolytic jaundice can be noted, since damaged red blood cells bind 25-30% less oxygen, have a shortened life expectancy and are hemolyzed. Proteinuria (globulinuria of tubular origin), aminoaciduria, and mellituria are noted in the urine. Cataracts can be congenital or appear in the 3rd week. In galactosemia, galactose is transformed into galactitol (dulcitol) under the influence of aldolase reductase. Galactitol is not metabolized and plays a pathogenetic role in the appearance of cataracts. Signs of the disease can progress and lead to coma and death over several weeks. More often the course of the disease is longer. Characterized by a lag in psychomotor development.

In mild forms of the disease, symptoms from the gastrointestinal tract are less pronounced, but there are always cataracts and hepatosplenomegaly. The differential diagnostic range for galactosemia includes all types of intrauterine infections accompanied by jaundice and eye damage (toxoplasmosis, listeriosis, rubella, syphilis); congenital hepatitis; various types of jaundice of other origins (hemolytic and non-hemolytic); sepsis and intestinal infections. In addition, it is necessary to differentiate galactosemia from diabetes mellitus. Since there are similarities in some clinical symptoms, the presence of mellituria and an increase in total blood sugar (as determined by the Hagedorn-Jensen method). However, with galactosemia there is a decrease in glucose concentration, and with diabetes mellitus there is an increase.

The diagnosis is based on genealogical history and biochemical studies. Characterized by galactosemia (more than 0.2 g/l), galactosuria (more than 0.25 g/l), an increase in Ga-1-f in the erythrocyte mass up to 400 mg/ml (instead of 1-14 μg/l); reduction in the activity of galactose-1-phosphate-uridyltransferase by 10 times compared to the norm (4.3-5.8 IU) per 1 g of Hb (according to the Kalkar method). A semi-quantitative microbiological Guthrie test with an auxotrophic strain of Escherichia coli is used.

Treatment is effective if started no later than 2 months of age. Milk and dairy products are excluded from the diet. The task is difficult, but doable. Milk is replaced with casein hydrolysates, mixtures prepared with soy and almond milk. 1 month earlier than with artificial feeding, complementary foods are introduced: porridge with meat and vegetable broth, vegetables, vegetable oils and eggs. Strict adherence to the diet is recommended up to 3 years of age. Orotic acid and its salts, as well as testosterone derivatives, have a positive effect on the maturation of galactose-1-phosphate-uridyltransferase.

Enzymopathies of amino acid metabolism represent a large group of practical importance. Disturbances in the metabolism of amino acids are called either aminoacidemia or aminoaciduria, which are divided into excess, non-threshold and transport. With excess aminoaciduria as a result of an innate metabolic block, the amino acid, accumulating in the blood to a certain limit, is excreted in the urine. These include classic phenylketonuria (PKU), tyrosinosis, alkaptonuria, histidinemia, valinemia, leucinosis (“maple syrup urine disease”), hereditary defects in the urea synthesis cycle, etc.

Quite early in newborns and infants, changes in the central nervous system and dyspeptic symptoms caused by the effects of toxic metabolites are detected. In newborns, these changes are nonspecific. Common to all types of amino acid metabolism disorders is convulsive syndrome.

PKU is characterized by a combination of progressive psychomotor retardation with persistent eczematous skin lesions, convulsions and a “mouse” odor of urine, decreased pigmentation of the skin, hair and iris.

Disturbances in tryptophan metabolism (B6-dependent conditions) are characterized by persistent eczematous dermatosis, anemia, and allergic conditions.

Leucinosis is characterized by the occurrence from the first days of life of convulsive syndrome, vomiting, respiratory distress and a characteristic smell of urine, reminiscent of a decoction of root vegetables. Some parents talk about the cabbage smell. Delays in mental and physical development and ataxia are noted.

Tyrosinosis - a disorder of tyrosine metabolism - leads to the development of dystrophy, cirrhosis of the liver, rickets-like changes in the skeleton, and damage to the renal tubules. From the first weeks of life, children experience vomiting, diarrhea, retarded physical development, hepatosplenomegaly, and respiratory failure.

In newborns, especially premature ones, in the first days and weeks of life, functional immaturity of many organs and systems is noted; embryopathies that have similar features to hereditary enzymopathies are also common. Often the disease is diagnosed as “birth trauma, posthypoxic encephalopathy.” Ineffectiveness of therapy, deterioration of the condition every month, the presence of specific symptoms (unusual smell of urine) serve as the basis for examination for hereditary enzymopathy. A large number of phenocopies requires diagnosis at the biochemical level.

Transient dysgammaglobulinemia of newborns can mask genetically determined immunodeficiency states for some time. The child has an early onset and a tendency to recurrent bacterial infection.