Cat cry. the story of a rare girl with Lygeon's syndrome. Cat cry syndrome what is it: diagnosis of the disease Genetic disease cat cry

Prevention of such a serious disease as the "cat's cry" syndrome consists in conducting genetic tests at the stage of pregnancy planning.

What it is

Syndrome "cat's cry" (or Lejeune's syndrome) is chromosomal disease, which occurs in the absence of a fragment of the short arm of the 5th chromosome. For the first time this pathology was described in 1963 by the French pediatrician J. Lejeune, and named after the discoverer. However, the specific crying of newborns, reminiscent of a cat's meow, assigned a figurative name to the disease - "cat's cry syndrome".

Lejeune's syndrome is one of the rare chromosomal diseases with an incidence of 1:50 thousand. According to medical observations, girls predominate among newborns with this pathology.

Unfortunately, there is no specific treatment for crying cat syndrome. At this stage, only surgical and / or medical correction of concomitant disorders and anomalies is possible.

Symptoms of the syndrome "cat's cry"

Newborns with Lejeune's syndrome are usually born full-term, albeit with some underweight. The average weight of such children at birth is 2300-2500 g. At the same time, the mother's pregnancy can proceed without any deviations.

The earliest and most characteristic sign of this disease is the crying of a child, reminiscent of a cat's meow. This sound during crying is due to the specific anatomical features of the larynx, which are noted in the "cat's cry" syndrome. The larynx in such children has a very narrow lumen, and the consistency of the cartilage is too soft. In addition, children with Lejeune's syndrome are born with a small epiglottis and abnormal folding of the mucosa. In about 30-35% of cases, the "cat's cry" disappears by the age of two, while in the rest of the patients it remains forever.

Abnormalities in chromosomes play an important role in the development of autism

Whole genome scanning of families with autism as an inherited condition has shown that previously unknown chromosomal abnormalities play an important role in the development of the disease. Structural variants of chromosomes provide

with "cat's cry" syndrome have a number of phenotypic clinical features. Such children have a moon-shaped face, in which the front part of the skull prevails over the brain. This pathology is characterized by an anti-Mongoloid incision of the eyes, deformity of the auricles, a short neck, and an epicanthoma. In sick children, microcephaly, depression of reflexes, muscle hypotension, as well as impaired acts of sucking and swallowing are detected.

With the "cat's cry" syndrome, a number of other disorders are also noted. However, other deviations in this disease can differ significantly in different patients, both in combination and in their degree of severity. So, often with the "cat's cry" syndrome, congenital eye diseases (cataracts, strabismus, optic nerve atrophy), diseases of the musculoskeletal system (congenital dislocation of the hip, clinodactyly, syndactyly of the feet, umbilical and inguinal hernias), as well as diseases of the cardiovascular , urinary and digestive systems.

Children with "cat's cry" syndrome are characterized by hyperactivity, aggressiveness and a tendency to tantrums. Such children suffer from severe mental retardation, underdevelopment of speech, as well as a significant lag in physical development.

Most children with "cat's cry" syndrome do not survive to a year due to severe concomitant anomalies. Approximately 10% of patients survive to adolescence. There are also very rare cases when patients live up to 50 years.

Diagnostics

The presence of cases of chromosomal diseases in the family is the basis for genetic testing at the stage of pregnancy planning.

During pregnancy, crying cat syndrome may be suspected during an ultrasound examination. To confirm the diagnosis, invasive prenatal diagnosis is performed (chorionic villus biopsy, amniocentesis, cordocentresis).

After birth, babies with crying cat syndrome should be examined by cardiologists, ophthalmologists, urologists, orthopedists and other doctors.

Treatment

Currently, the syndrome of "cat's cry" is an incurable disease. All therapeutic measures are aimed only at maintaining the vital functions of the patient and eliminating associated anomalies.

To improve psychomotor activity, the child should be under the supervision of a neurologist and undergo courses of medication and psychotherapy. Also, patients need the help of physiotherapists, speech therapists and defectologists.

The presence of congenital heart defects in "cat's cry" often requires surgical intervention.

In case of pathologies of the urinary system, it is necessary to be observed by a nephrologist with regular passage of all necessary examinations.

Genetic diseases are not always diagnosed in the early stages. Some pathologies begin to appear only after the birth of the baby. So, cat's cry syndrome can be determined by characteristic changes.

Cat cry syndrome - what is it?

Lejeune's syndrome, cat's cry syndrome is a genetic disease that is associated with a violation of the structure of the chromosome. Chromosome 5 is the most frequently altered. The development of the syndrome is directly related to a change in the structure of its short arm. In pathology, there is a partial loss of this area (1/2 or 1/3 of the length) or a complete absence.

For the first time, the pathology was described in 1963. The French pediatrician, geneticist J. Lejeune was studying the problem. Subsequently, the disease began to be called by his last name - Lejeune's syndrome. In the medical literature, the name cat's cry syndrome is more common - according to the main, specific symptom of the pathology.

Syndrome of a cat's cry in children

This disease is classified as a rare genetic pathology. Lejeune's syndrome (a photo of newborns is given below) is easy to determine by the characteristic changes in the baby's appearance, so doctors can diagnose the pathology immediately after the baby is born. However, to make a diagnosis, a complete examination is carried out.

According to experts, the appearance of a characteristic cry, reminiscent of a cat's meow, is associated with the structural features of the larynx. It has a clear underdevelopment, is narrow, and the cartilages that form it are thin. In 30% of cases, children with Lejeune's syndrome lose this developmental feature by the age of three, but in some it remains until death.

Crimson Syndrome - Symptoms

You can understand what cat's cry syndrome is by simply looking at a baby with this pathology. In most cases, these children have a small body weight, even when born at term. Most babies with this pathology are born prematurely. The average body weight of such newborns does not exceed 2.5 kg. At the same time, pregnancy can proceed without complications - many expectant mothers learn about the child's genetic disease only after childbirth.

The main characteristic symptom of the disease is crying, reminiscent of a cat's meow. It has a high range, shrill. This is due to the narrow lumen of the larynx, the small size of the epiglottis. When examining the throat, an unusual folding of the mucous membrane, a soft consistency of cartilage, is found. You can also determine the disease by the characteristic changes in the appearance of the child:

• the front part of the skull prevails over the brain;
• face in the shape of the moon;
• antimongoloid incision of the eyes;
• deformation of the auricles;
• flat bridge of the nose;
• short neck.

With a detailed examination of the child, the following signs of the cat's cry syndrome are observed:

• decreased muscle tone;
• low reflex activity (impaired swallowing and sucking).

Lejeune's syndrome - causes

The hereditary disease "cat cry syndrome" is a consequence of a mutation of the 5th chromosome. The causes of changes in the gene apparatus are so numerous and varied that it is often not possible to establish a specific factor that led to the pathology. Studies have shown that a negative effect on a fertilized egg occurs at the stage of division and the formation of a zygote. In some cases, the genetic material of the parents is initially damaged, which causes pathology in the child. Among the factors provoking the violation:

• heredity;
• nicotine;
• alcohol;
• drugs;
• long-term use of certain drugs (especially in the first trimester of pregnancy);
• ionizing radiation.

Cat cry syndrome - diagnosis and treatment

You can determine the disease by the characteristic manifestations of the pathology. However, it must be borne in mind that the cat's cry syndrome is a genetic pathology, therefore, to make a diagnosis, it is necessary to study the patient's genome. The first signs of pathology can be detected already with ultrasound during prenatal screening. In this case, to confirm the assumptions, additional methods of invasive diagnostics are used:

• (study of amniotic fluid);
• chorionic villus biopsy.

When diagnosing pathology after childbirth, the diagnosis is made on the basis of characteristic crying, changes in the appearance of the baby. However, doctors' assumptions should always be confirmed by the result of cytogenetic analysis. This study helps to establish characteristic changes in the gene material and exclude other chromosomal pathologies.

Syndrome of a cat's cry - karyogram

The disease cat cry syndrome can be established by examining the karyotype. During the analysis, doctors carefully examine a sample of genetic material. The presence of pathology can be said when there is a chromosomal aberration in the form of loss of 1/3 of the chromosome. The fifth chromosome undergoes these changes.

In this case, it is not the size of the lost part of the chromosome that is important, but the very absence of this section. The loss of a small area in the 5p15.2 region leads to the appearance of the main clinical signs, except for the cat's cry. Critical for the occurrence of a characteristic cry is the loss of a section in the 5p15.3 region.

Cat cry syndrome - frequency of occurrence

Cat cry syndrome in humans is extremely rare. According to statistics, this genetic disease is registered in 1 out of 45-50,000 newborns. At the same time, there is a difference in the frequency of development of pathology in boys and girls. According to observations, the ratio of the number of sick girls to boys with this syndrome is 4:3.

Crimson Syndrome - life expectancy

When a child is diagnosed with cat's cry syndrome, how long such babies live and what are the forecasts - parents are often interested. Each case is individual. The duration and quality of life of children with pathology are affected by concomitant defects and pathologies of internal organs. Often the prognosis is poor. The level of psychomotor development of children does not exceed preschool. About 90% of all babies with pathology do not live up to 10 years, although there are cases when patients with this syndrome lived to 50 years.

Genetic mutations are perhaps the most severe type of disease that a person can get. The fact is that modern medicine has not yet found ways to heal such ailments, so parents of sick children have to measure their child's condition and provide him with the most comfortable standard of living. That is why geneticists are advised to take a test for possible mutations before conceiving a child. However, this service is not free, and therefore few resort to it. Therefore, children are born periodically, with various genetic abnormalities, most of which can be lived with. Today we will tell you about crying cat cry syndrome.

What is feline cry syndrome

The feline scream syndrome is a terrible genetic disease that appears when the fifth chromosome lacks a short arm. Such a deviation is extremely rare. However, sometimes it makes itself felt.

According to statistics, for 55 thousand newborns, only one is sick with cat's cry syndrome. At the same time, there are approximately the same number of boys and girls with this mutation.

Lejeune's syndrome is a terrible disease. Despite its name, it cripples the lives of children. People with cat syndrome have a lot of pathologies associated with mental development, as well as with internal organs.

Most children with a howl of a cat live only up to 5 years. Only five percent can live up to 18 years. However, several cases have been recorded when patients with Lejeune died at the age of 60. This is due to diseases of the internal organs that accompany such a mutation. The main feature of patients with a cat's cry is a characteristic meowing cry. Let's see what causes these sounds.

Why does a cat's cry appear in children with Lejeune?

• The epiglottis is reduced;
• The airways are narrowed;
• Cartilage is softened.
• Lined mucous membrane of the larynx in folds.

Treatment of a disease such as cat crying is to maintain the work and compensate for the work of internal organs. It is also very important for a sick child to be accompanied by defectologists, speech therapists and psychologists. At successful treatment the life of the baby will increase significantly.

Types of Lejeune's syndrome

Lejeune's syndrome has several degrees. It is from the stage of mutation that the standard of living and the method of treating the child depend.

The squealing cat disease got its name from the characteristic meowing cry of a child, which is indistinguishable from the meow of a hungry kitten.

The type of Lejeune's disease can only be determined by a doctor. It depends on the degree of underdevelopment of the chromosome. Let's see what types of cat's cry syndrome exist.

Types of mutations that lead to cat scream syndrome:

1. A change in a chromosome into a ring occurs when both parts of the chromosome link together. If important genes are not lost, then the disease may not develop.
2. The mosaic type of the disease is considered the easiest. In this case, the loss of a shoulder occurred during the development of the fetus, when one of the cells was left without a shoulder during division. In this case, most of the cells will be healthy. This type of disease usually occurs without defects in the internal organs, however, in most cases, a lag in psycho-emotional and mental development is still present.
3. When the fifth arm is shortened, only a small part of the genetic information is lost. In this case, of course, there will be deviations in the development of internal organs, but not in such a large number as with a complete loss of the shoulder.
4. The complete absence of the fifth shoulder, unfortunately, is the most common. In this case, 25% of genetic information and important sections of molecules are lost. This leads to a mass of serious defects of the internal organs. It is this type of cat cry syndrome that is considered the most severe.

All types of diseases negatively affect the standard of living of the child. However, in mild cases, the patient can live to advanced years without serious malformations of the internal organs.

Cat's cry and other symptoms of this disease

Symptoms of the genetic mutation "Cat's cry" are noticeable from the first day of life. Therefore, the mother will be able to find out about the illness of the child already in the maternity hospital. However, only a doctor after a full examination will be able to diagnose the severity of the disease and indicate the existing forecasts.

Some doctors argue that meow-like crying can be triggered by other abnormalities that are not associated with a genetic mutation.

The first symptoms of the disease are easy to notice. They are pronounced and can be seen with the naked eye.

Symptoms of screaming cat syndrome:

• Unusual crying baby. A baby with this syndrome will cry like a kitten meows.
• Another symptom is a change appearance heads. Also, the entire karyotype will undergo changes.
• The body weight of such children is always below normal. This is due to defects in organs and the musculoskeletal system.
• Patients with such an ailment always clubfoot. This is due to a violation of the structure of the bones.

These signs can be noticed immediately after the birth of the child. However, soon changes will appear in other systems. This is due to pathologies of organs and lag in psycho-emotional development. It is worth noting that most of the features described by us are also characteristic of other genetic diseases. However, the cat's cry is distinguished precisely by its characteristic cry.

External signs of cat cry syndrome

The screaming cat syndrome is easily distinguished by outward signs. Therefore, a child with such a syndrome is easy to identify when he sees him for the first time.

You may hear the diagnosis "Arm Deletion on Chromosome Five". This definition means cat scream syndrome.

To determine the presence of such a syndrome in a child, you do not need to have a medical education. It is enough just to look at it and everything will become clear.

External signs of cat cry syndrome:

1. The head of 85% of children with this syndrome is elongated and reduced in size. This is revealed by measuring the size of the skull.
2. Also, in most cases, there is a moon-shaped face. This symptom is associated with a decrease in the skull.
3. The neck of such children is shortened. In addition, it is less mobile than in healthy people.
4. The shape of the eyes is also associated with the development of the cranial bones. The eyes of these children are similar to those of a cat. There may also be strabismus, and a large distance between them.
5. The ears also have a characteristic structure. They are reduced in size, and the ear canal is very narrow.
6. The lower jaw in these children is often reduced. Because of this, there is a stretching of the face towards the jaw. This often makes breastfeeding impossible.
7. The fingers of people with yelp syndrome may grow together. If they are interconnected only by the skin, this is corrected by its dissection, when the bone tissue grows together, the correction of the defect becomes more complicated.
8. Clubfoot may be observed.
9. Children with cat cry syndrome always suffer from poor mental development. With regular practice, they can master the average vocabulary, but their development rarely exceeds the level of preschool age.
10. It is worth noting that these children often change their mood. This is justified by failures in psycho-emotional development.

All of these factors are indicative of meowing cry syndrome. True, they can accompany other genetic abnormalities.

Why does cat cry disease occur?

It is impossible to accurately explain the causes of such a disease. However, it has been proven that a number of factors influence the appearance of such a syndrome.

Causes of cat cry:

1. Often the syndrome appears as a result of inheritance. For example, if one of the relatives is ill with such an ailment, then it is highly likely that the child will also have a cat's cry disease.
2. Viruses present during pregnancy can interfere with cell division and cause a missing chromosome back. The herpes virus is especially dangerous.
3. Another cause of crying cat syndrome is the mother taking medication during pregnancy. Some drugs can have a negative effect on the division of chromosomes and the development of the fetus.
4. Smoking, alcohol and drug use by the mother during and shortly before pregnancy can cause the development of the disease of cat's cry.
5. Also, exposure to radiation or living in adverse environmental conditions can change the structure of DNA molecules in parents.

The pictures of the causes of the mutation leading to the disease of the cat's cry are quite clear. However, usually a whole formula of factors leads to such misfortune. Do not forget about the risk of random mutation, which increases in women after 40 years.

Prevention of cat syndrome

It is worth talking about how to prevent the birth of a child with such a disease. It is possible to identify the risk of such a misfortune even before birth, and even the conception of a child. Let's see how.

How to determine the likelihood of having a child with cat cry syndrome:

• Examination by a geneticist;
• Karyotype collection;
• Taking an anamnesis by a pediatrician;
• Blood tests;
• Invasive research.

It is advisable to conduct such studies twice: before and after the conception of a child. For the first time, the geneticist will tell you how high the risk of having a child with a similar disease is and whether there is any at all, and the second time, he will make sure that the baby is healthy.

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a congenital complex of malformations caused by a violation of the structure of one of the chromosomes of group B. Described in 1963 by Lejeune et al.

The frequency of the syndrome among newborns is about 1: 3000, boys and girls are equally often affected. The dependence of the frequency of birth of children with HP. The age of the parents has not been established. due to changes in the short arm of the 5th pair ( rice. one ), arising more often as a result of a segment of the chromosome, less often - structural rearrangement of the chromosome or movement of a segment of the chromosome within the chromosome set. Other variants of balanced translocations in the cells of parents, which led to the birth of children with Lejeune's syndrome, have also been described. Some variability in the clinical manifestations of the syndrome seems to depend on the size of the missing chromosome region.

Children with HP are usually born with low body weight (under 2500 G) even at full-term pregnancy. The most constant symptom is a specific cry, reminiscent of a cat's meow. This is due to the peculiarity of the structure of the larynx, determined during laryngoscopy - a small flaccid epiglottis, which can descend with the glottis. The vocal folds are not changed. Radiographically, there is a decrease in the air space above the vocal folds.

In the early childhood characterized by a moon-shaped, oblique eye with lowered outer corners, (a fold at the inner corner of the eye), (widely spaced eyes), somewhat flattened, low-lying auricles ( rice. 2 ), in front of which there are often small (size 1-3 mm) round fibrous nodules. Brain relatively small size (), dolichocephalic form (significant predominance of longitudinal dimensions over transverse) or with protruding frontal tubercles. The lower jaw is small and short with excess skin forming pterygoid folds. In some cases, there is an upper or palate or a high gothic palate and a cleft uvula. Transient or permanent strabismus possible , astigmatism (see eye refraction) . In some cases, changes in the fundus of the eye are detected, in particular, foci of retinal depigmentation, as well as atrophy of the optic nerve. Of the anomalies in the development of internal organs, the most common are the heart and blood vessels, and the kidneys. Boys often have hypospadias . May be four-fingered or short, triangular shape middle phalanx of the fifth finger. General muscle, characteristic of newborns with HP, usually persists for 1 year or longer. All children with HP there is mental retardation, most lag behind in physical development. Biochemical disorders in HP nonspecific: long-term preservation of fetal hemoglobin, some decrease in serum albumin, moderate and aminoaciduria.

Frequency and severity of individual signs HP. are age related. Signs such as crying, reminiscent of a cat's meow, muscular hypotension, a moon-shaped face in most cases completely disappear with age, and microcephaly, an oblique incision of the eyes become more pronounced; lag in psychomotor development progresses. May be stridor; patients are susceptible to diseases of the upper respiratory tract.

The syndrome is differentiated from other congenital malformations of chromosomal and non-chromosomal etiology. confirmed by a karyological study using one of the chromosome identification methods.

Treatment is symptomatic. Means stimulating psychomotor development, medical and gymnastics are shown.

The average life expectancy of patients is reduced. They die due to heart failure (Heart failure) or kidney failure (Renal failure) , from intercurrent infectious diseases.

Prevention consists in the timely conduct of medical genetic counseling (Medical genetic counseling) in families where there were patients with Lejeune's syndrome and is based on determining the karyotype of the parents who had a child. The presence of changes in the short arm of the 5th pair of chromosomes is an absolute indication for antenatal determination of the fetal karyotype in subsequent pregnancies by amniocentesis and examination of amniotic cells. Balanced in one of the parents also requires a study of the karyotype in his blood relatives in order to identify individuals with a translocation.

Bibliography: Kozlova S.I. and others. Hereditary syndromes and medical genetic counseling, p. 337, M., 1987; Marincheva G.S. and Gavrilov V.I. Mental retardation in hereditary diseases, p. 180, M., 1988; man, ed. G.I. Lazyuk, p. 314, M., 1979.

Rice. 1. Chromosome set of a patient with Lejeune's syndrome: group (from A to G) and individual identification of chromosomes (the arrow indicates a defect in the short arm of the chromosome of the 5th pair, the second chromosome is not changed).

1. Small medical encyclopedia. - M.: Medical Encyclopedia. 1991-96 2. First health care. - M.: Great Russian Encyclopedia. 1994 3. Encyclopedic dictionary of medical terms. - M.: Soviet Encyclopedia. - 1982-1984.

Syndrome "cat's cry"- a chromosomal disorder caused by a deletion (absence) of a fragment of the short arm of the 5th chromosome. The crying of newborns with the syndrome of "cat's cry" resembles the sound of a cat's meow, which served as the name of the pathology. In addition, children have microcephaly, a moon-shaped face, strabismus, malocclusion, various congenital malformations, gross intellectual underdevelopment, etc. The "cat's cry" syndrome is diagnosed on the basis of a combination of characteristic features and cytogenetic studies. There is no specific treatment for crying cat syndrome; children may need surgical correction of severe congenital anomalies.

Syndrome of "cat's cry" (Lejeune's syndrome) - partial monosomy associated with a violation of the structure of the short arm of the 5th chromosome (loss from 1/3 to 1/2 of its length, less often - complete loss of the short arm). The "cat's cry" syndrome is one of the rare chromosomal diseases with a population frequency of 1:45-50 thousand. Among newborns with the "cat's cry" syndrome, there is a predominance of girls over boys in a ratio of 4:3. The disease was described in 1963 by the French geneticist and pediatrician J. Lejeune and was named "Lejeune's syndrome" by the author. However, in the literature, this pathology has a figurative name associated with a specific symptom - the crying of newborns, reminiscent of a cat's cry.

Causes of "Cat's Cry" Syndrome

The development of the "cat's cry" syndrome is associated with the loss of a fragment of the 5th chromosome, and, consequently, the genetic information stored in this area. In 85-90% of cases, the deletion of the short arm is formed as a result of a random mutation, in 10-15% it is inherited from parents who are carriers of a balanced translocation.

The most common cytogenetic variants of chromosomal aberration are the loss of one third or half of the length of the short arm of the 5th chromosome. Loss of a smaller area or the entire shoulder is extremely rare. At the same time, for the degree of severity of the clinical picture of the "cat's cry" syndrome, it is not the size of the lost fragment that is important, but the absence of a specific region of the chromosome. So, with the loss of a small portion of the chromosome in the 5p15.2 region, all the clinical signs of the syndrome develop, except for the cat's cry; Critical for the occurrence of a characteristic cry is the loss of a chromosome region in the 5p15.3 region.

Along with a simple deletion, other cytogenetic variations of the “cat's cry” syndrome can occur: mosaicism, ring 5th chromosome with a deletion of a short arm segment, reciprocal translocation of the short arm of the 5th chromosome to another chromosome.

The direct cause of the mutation can be various damaging factors that affect the germ cells of the parents or the zygote (alcohol, smoking, drugs, ionizing radiation, drugs, chemicals, etc.). The probability of having a child with the "cat's cry" syndrome is higher in families where children with a similar disease have already been born.

Symptoms of the syndrome "cat's cry"

Newborns with "cat's cry" syndrome, as a rule, are born full-term, but with a slight prenatal malnutrition (average birth weight is about 2500 g). Pregnancy in the mother can proceed absolutely normally or be accompanied by the threat of spontaneous interruption no more often than in the population. Most pathognomonic early sign Syndrome is the crying of a child, which resembles the meowing of a cat. The high and piercing sound of a child's cry is due to the anatomical features of the structure of the larynx in this syndrome - the narrowness of its lumen, a small epiglottis, an unusual folding of the mucous membrane, and a soft texture of cartilage. Some authors believe that the specific cry is of central origin and is not associated with underdevelopment of the larynx. In about a third of children, the "cat's cry" disappears by the age of 2, in the rest it remains for life.

The phenotype of children with the "cat's cry" syndrome is distinguished by the predominance of the facial part of the skull over the cerebral, moon-shaped face, hypertelorism, anti-Mongoloid incision of the eyes, epicanthus, deformity of the auricles, flat back of the nose, short neck with pterygoid folds. Examination of children reveals microcephaly, muscular hypotension, decreased reflexes, impaired sucking and swallowing. In the neonatal period, inspiratory stridor and cyanosis may develop.

Other clinical manifestations of the "cat's cry" syndrome can vary significantly in their combination in individual patients. On the part of the visual system, congenital cataracts, myopia, strabismus, and atrophy of the optic nerve are often found. Changes in the musculoskeletal system are manifested by syndactyly of the feet, congenital hip dislocation, clubfoot, flat feet, clinodactyly of the fifth finger, scoliosis, diastasis of the rectus abdominis muscles, inguinal and umbilical hernias. Frequent companions of the "cat's cry" syndrome are malocclusion, "Gothic" palate, microgenia, cleft palate and upper lip, uvula splitting.

Many patients have congenital heart defects (VSD, ASD, open arterial flow, tetralogy of Fallot), malformations of the kidneys (hydronephrosis, horseshoe kidney), cryptorchidism, hypospadias. Rarely observed megacolon, constipation, intestinal obstruction. Dermatoglyphic signs of the "cat's cry" syndrome can be one palmar fold, transverse flexion folds, etc.

The behavior of children is characterized by hyperactivity, monotonous movements, a tendency to aggression and tantrums. Children with the "cat's cry" syndrome are characterized by profound mental retardation in the degree of imbecility and idiocy, gross systemic underdevelopment of speech, pronounced lag in motor and physical development.

Sexual and reproductive functions in individuals with "cat's cry" syndrome are usually not affected. Sometimes in women a bicornuate uterus is detected, in men - a decrease in the size of the testicles, however, spermatogenesis is not significantly impaired, as, for example, in Klinefelter's syndrome.

The life expectancy of patients with "cat's cry" syndrome is significantly shortened; most of the children die in the first year of life due to concomitant defects and their complications (more often from heart and kidney failure). Only about 10% survive into adolescence, although there are isolated reports of patients who have reached 50 years of age.

Diagnosis of the "cat's cry" syndrome

If the family already had cases of chromosomal diseases, even at the stage of pregnancy planning, future parents are advised to visit a geneticist and undergo genetic testing. During pregnancy, the presence of the syndrome of "cat's cry" in the fetus may be suspected based on the results of ultrasound prenatal screening. In this case, invasive prenatal diagnosis (amniocentesis, chorionic villus biopsy or cordocentesis) and direct analysis of the fetal genetic material are recommended for final confirmation of the chromosomal abnormality.

After birth, a preliminary diagnosis of "cat's cry" syndrome is established by a neonatologist based on typical diagnostic features (characteristic crying, phenotypic features, multiple stigmas of dysembryogenesis). To confirm the chromosomal pathology, a cytogenetic study is performed.

Given the presence of multiple developmental anomalies in children with "cat's cry" syndrome, it is necessary that in the first days of life, newborns be examined by a pediatric cardiologist, pediatric ophthalmologist, pediatric urologist, pediatric orthopedist and other specialists.

Treatment of the "cat's cry" syndrome

There is currently no specific treatment for this chromosomal disorder. To stimulate psychomotor development, under the supervision of a pediatric neurologist, courses of drug therapy, massage, physiotherapy, exercise therapy are carried out. Children with the syndrome of "cat's cry" need the help of psychologists, defectologists, speech therapists.

Congenital heart defects in the "cat's cry" syndrome often require surgical correction, so children need to consult a cardiac surgeon, conduct echocardiography and other necessary research. Children with pathology of the urinary system should be under the supervision of a pediatric nephrologist and periodically undergo a set of necessary examinations (ultrasound of the kidneys, general analysis urine, biochemical analysis of blood and urine, etc.).

Forecast and prevention of the "cat's cry" syndrome

The duration and quality of life of patients is affected by the severity of the syndrome itself and concomitant congenital malformations, the level of medical and psychological and pedagogical assistance. In general, the long-term prognosis is poor. With special education, children have a vocabulary sufficient for everyday communication, however, in terms of the level of psychomotor development, they usually do not rise above preschoolers.

Prevention of the "cat's cry" syndrome consists in careful preparation for pregnancy and the exclusion of possible adverse effects on the body of the parents long before conception. At the birth of a child with the “cat's cry” syndrome in the family, the parents must undergo a mandatory cytogenetic examination to exclude the carriage of a reciprocal balanced translocation.