The concept of Lejeune syndrome, causes in children and symptoms with photos, diagnosis and treatment. Cat cry syndrome what is it: diagnosis of the disease

The syndrome of a cat's cry, or, as it is also called, Lejeune's syndrome, is determined in one newborn in 45,000 children. Most often, girls are affected (ratio approximately 4:3).

Genetics

Chromosomal disease is explained by partial monosomy and is formed as a result of the loss of one of the sections of the short arm of the 5th chromosome. With the development of the clinical picture of the cat's cry disease highest value represents not the size of the lost region, but a certain fragment of the chromosome. Sometimes there is mosaicism in the deletion, or a ring chromosome-5 is observed.

Causes

Various damaging factors are capable of leading to a mutation in which the cat's cry syndrome occurs. They act on a fertilized egg at the stage of its division and the formation of a zygote. Also, damaging factors can affect the germ cells of the parents, which causes the development of the disease in the child.

The main causes of crying cat syndrome are as follows:

heredity (when there are cases with Lejeune's syndrome in the family, the likelihood that the newborn will have such a diagnosis becomes higher);
smoking;
alcohol (there is a damaging effect on the entire body, especially on the embryo and germ cells);
narcotic drugs (there is a destruction of the body, damage to the cellular genetic apparatus);
certain medications (if they are used in the first months of pregnancy, they can be the causes of the cat's cry syndrome);
ionizing radiation.

Symptoms

In patients with Lejeune's syndrome, the following symptoms are observed:

the crying of a child typical of this disease, which is similar to the meowing of a cat, which is associated with a change in the structure of the larynx (it takes up to a year or remains forever);
developmental delay (delay in the formation of physical and speech skills);
small weight at birth (up to 2500 g);
moon-shaped face;
short neck, on which are observed skin folds.

Also, people with Lejeune's syndrome have heart defects, which is congenital. Often there is microcephaly, modification of the auricles, ptosis, (a large distance between some paired organs). A person with feline cry syndrome (Lejeune's syndrome) has low ears and skin folds in front of them. In addition, among the signs of the disease, epicanthus is observed (a transverse fold of skin that is located near the corner of the eye with inside). This feature is strongly expressed in Down syndrome.

Diagnostics

As a rule, the diagnosis is established by the appearance of the child and characteristic crying. Diagnosis of cat's cry syndrome involves a cytogenetic examination, as well as a study of the patient's chromosome set. Such a diagnosis can be carried out even when planning a pregnancy. It is especially recommended when the family is already a child is born with this disease or cases of chromosomal abnormalities have been observed.

When diagnosing cat's cry syndrome, the following methods are used:

Collection of anamnesis.
Carrying out karyotyping of parents.
Ultrasound examination.
Blood sampling for plasma markers.
Invasive examinations (cordocentase, amniocentase, chorion biopsy).
Diagnosis at the postpartum stage.

Treatment

Patients with this disease are given symptomatic treatment. Surgical methods are used to correct heart defects. Sometimes it is necessary to carry out several operations. Given the general hypotension, patients with cat's cry disease need exercise therapy, as well as regular massage. Among medicines, which are prescribed for such a disease, it is worth noting the means to stimulate psychomotor development. It is recommended to conduct classes with specialists such as a speech therapist and defectologist.

Forecast

With Lejeune's syndrome, the prognosis is generally unfavorable. Most children do not live past the age of ten. True, there were cases when patients who were diagnosed with cat's cry syndrome died at the age of 40-50. It is impossible to predict in advance the life expectancy of people with such a pathology. This is influenced by many different factors.

The life expectancy of patients with this diagnosis depends not only on the degree of chromosome disorder, but also on the level of care, lifestyle, and medical care. If children with this pathology are provided with the right treatment and adequate education, they can learn to write and read, as well as perform simple tasks.

crying cat syndrome

In 1963, the French researcher Lejeune described a congenital anomaly in newborns, which he called the "cat's cry" syndrome. The fact is that the children suffering from it had a meowing timbre of voice. Such an unusual feature was determined by the special structure of their vocal cords. Later, as the child grows up, this feature usually disappears, and inexperienced mothers, raising their first child, do not always pay attention to this alarming symptom. They usually simply have nothing to compare the nature of their child's crying with. Here is how the American doctor Aubrey Milunsky describes such a situation.

“One young woman named Mary (at the time she was 27 years old) decided to consult me on a very unusual occasion. Two weeks earlier, she had brought a plumber into the house for minor repairs. Her baby was then four weeks old. While fixing the sink in the kitchen, the plumber asked if Mary had got a kitten. Mary was indignant, because the plumber mistook the cry of her child for the kitten's meow. However, over the next two weeks, her attention was drawn more and more to the cry of a child, which, indeed, was extremely reminiscent of a cat's cry. Since Mary was also having great difficulty in feeding the baby, she decided that it was necessary to consult a doctor.

She began by complaining that the child was not eating very well, but it soon became clear that her main concern was his abnormal cry. Her pregnancy proceeded perfectly normally. There were no cases of hereditary diseases in the family history. Starting to examine the child, I found that he was behind in weight. His cry was indeed very reminiscent of a cat's cry. In addition, his face was larger than usual, his eyes were too wide apart, the little fingers on both hands were slightly crooked. Heart murmurs were also heard.

The clinical diagnosis, which I very reluctantly and bitterly made, was the "cat's cry" syndrome, at that time still very difficult to recognize. The analysis of the child's chromosomes confirmed the diagnosis, and with it the bitter predictions of severe mental retardation, which manifested themselves in the coming months and years.

Milunsky's bitterness at the diagnosis was understandable. Children with "cat's cry" syndrome are usually characterized by a delay in mental and physical development. The syndrome is caused by a lack (deletion) of part of chromosome #5, which they may have received from one of their parents. Sometimes such a division occurs as a chromosomal mutation at the earliest stages of embryonic development. As in the case of other chromosomal abnormalities, the fight against the consequences of the syndrome is very difficult.

Concluding a brief description of the consequences of a violation of the number of autosomes (non-sex chromosomes) in humans, it should be noted that, for sure, failures in the process of division of germ cells lead to the appearance of other trisomies, that is, to the formation of fertilized eggs with one or more additional chromosomes. However, most likely, such violations are eliminated even in the process of intrauterine development, making their bitter contribution to the statistics of premature pregnancies ending in spontaneous abortions. So nature itself struggles with genetic disorders that spontaneously arise in each new generation.

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crying cat syndrome Lejeune's syndrome) is a rare chromosomal disease in which patients have a defect in the structure of the fifth chromosome. This defect is accompanied by multiple anomalies in the development of various organs and tissues. In most cases, children with this disease suffer from severe complications.

The prevalence of Lejeune's syndrome varies widely. According to various sources, it ranges from 0.00002 to 0.00004%, that is, 1 case per 25-60 thousand newborns. A clear dependence on the country, nationality or climatic factors has not been identified. It is noted that girls get sick more often ( the proportion is approximately 1:1.25).

Compared to many others genetic diseases crying cat syndrome has a not so bad prognosis. In the absence of serious complications and good care children sometimes survive into adulthood. However, the normal mental and intellectual development of children with this diagnosis is completely excluded.

Interesting Facts

The crying cat syndrome was first described in 1963 by the French geneticist Jerome Lejeune. In honor of him, another name for this pathology was given, but it is used less frequently.
This disease is characterized by a set of typical symptoms, which sometimes allow for a preliminary diagnosis immediately after birth.
The syndrome got its name because of the characteristic cry of the child ( high-pitched cry), which resembles the meow of a cat. This symptom is due to a defect in the development of the laryngeal cartilage.
Unlike other chromosomal disorders ( Down syndrome, Turner, Edwards, etc.) with cat's cry syndrome, the patient has a normal number of chromosomes. Only a small part of the fifth chromosome is missing, which causes the disease.

Causes of genetic pathology

The crying cat syndrome belongs to the group of chromosomal diseases. This means that the main and only reason for the appearance of this pathology is a violation of the structure of chromosomes in the child's genome.

The genome is the totality of the genetic information of an organism. In humans, it is represented by 23 pairs of DNA molecules. These molecules are composed of nucleic bases linked to each other ( nucleotides). A single section of the DNA molecule is called a gene. This is a kind of information matrix, according to which cells can produce new chemical compounds. In most cases, genes code for a variety of proteins. With various defects in DNA molecules, the following process occurs. Due to a violation of the structure of a certain gene, cells become unable to produce any chemical compound. Proteins that are produced according to the encoded information are either defective or not produced at all. This is the reason for the appearance of certain symptoms at the level of the organism as a whole.

In chromosomal diseases, this pathological process more pronounced. The fact is that a chromosome is a whole DNA molecule, which is packaged for more convenient storage in the cell nucleus. A set of 23 pairs of molecules is present in almost all cells of the body. If an entire chromosome is damaged ( or the normal number of chromosomes in the genome is disturbed), chromosomal disorders occur.

With the syndrome of a cat's cry, as mentioned above, the defect is localized at the level of the fifth chromosome. This means that this chromosome is defective in all cells of the body. The problem lies in the absence of the so-called short arm on the chromosome - a small fragment, on which, however, hundreds of genes are located. The appearance of anomalies characteristic of the cat's cry syndrome in a child is caused by the absence of only a few of them ( genes CTNND2, SEMA5A and TERT). This loss of a piece of DNA in genetics is called a deletion.

There are several types of mutations in which this disease develops:

Complete absence of a short arm. With the complete absence of the short arm, approximately a quarter of the genetic information encoded by the fifth chromosome is lost. This is the most common and most severe variant of the disease. In addition to the genes that cause the development of Lejeune's syndrome, several more important sections of the molecule are lost. This predisposes to more serious and numerous congenital anomalies.
short arm shortening. When the arm is shortened, only a part of the genetic information that was closer to the end of the molecule is lost ( a third to a half shoulder). If at the same time there is a deletion of the 5p12.2 - 5p12.3 section, on which the key genes are located, then the child develops a cat's cry syndrome. In such cases, there are fewer malformations than in the absence of the entire shoulder ( less genetic information is lost).
Formation of the ring chromosome. The so-called ring chromosome is a linkage of two arms of the same chromosome ( long and short). As a result, the molecule takes the form of a ring. This anomaly involves the deletion of a small end region. If key genes are lost, disease develops.
Mosaic form of the syndrome. The mosaic form of the syndrome is usually the mildest variant, but is extremely rare. In all three previous cases, the child received the defective DNA molecule from one of the parents. In the mosaic form, the genome was originally normal. The so-called zygote a cell formed by the fusion of a sperm and an egg), had complete fifth chromosomes. The problem occurred during the growth of the embryo. During chromosome division, the short arm was lost ( not divided between two daughter cells). Thus, some of the cells ( usually most) in the future will have a normal genome, and a small part will have a genome characteristic of Lejeune's syndrome. The severity of the pathology will be moderate, and children will have fewer malformations ( defects in some cells are partly compensated by the increased division of others). Such children are not normal in the full sense of the word. As a rule, mental retardation still occurs. However, deviations in physical development and severe birth defects internal organs usually not observed.

The syndrome of a cat's cry is diagnosed with any of the above variants of violations. The characteristic symptoms, which will be discussed later, are the result of cell division with a defective genome. These cells divide more slowly, since some of the necessary chemical compounds are simply missing. This partly explains the low birth weight of newborns with Lejeune's syndrome.

A defective fifth chromosome, containing as much as 6% of all genetic information, a child usually receives from one of the parents ( except for the mosaic variant of the disease). There can be many reasons for the primary formation of this defect, but none of them can be called the main one. In fact, we are talking about a combination of external factors that can damage the germ cells of the parents or affect the process of zygote division at the very beginning of pregnancy. They are identical for all chromosomes and genetic pathologies.

Factors that can lead to damage to the fifth chromosome are:

Mother's age. With the age of the mother, the risk of chromosomal pathology in the child gradually increases. This pattern is observed in all diseases of this group. For the cat's cry syndrome, this dependence is very weak. A significant increase in risk occurs only after 40-45 years. An unequivocal explanation for why this happens has not yet been found. It is possible that the egg genome is damaged during the impact of the endocrine and nervous systems, which regulate most processes in the body. A similar dependence of risk on the age of the father is not observed.
Smoking. Smoking, especially in adolescence, when reproductive system can cause chromosomal rearrangements. Nicotine and tar in cigarette smoke trigger a range of biochemical reactions in the body that can lead to the formation of gametes ( germ cells) with certain anomalies. In the future, if this particular cell forms a zygote, the fetus will have a chromosomal disease.
Alcohol. The mechanism of action of alcohol is similar to that of smoking. The difference lies in the fact that alcohol affects the biochemical processes in the liver to a greater extent. This is reflected in the composition of the blood, the endocrine system. The risk of chromosomal abnormalities is increased.
The influence of medicines. Many drugs used in modern medicine can have a toxic effect on the reproductive system. In this regard, self-administration of most drugs can lead, among other things, to chromosomal disorders in the future. Separately, the use of certain medications in the first trimester of pregnancy should be considered ( many of them are simply prohibited). This increases the risk of a mosaic variant of Lejeune's syndrome. Regular use of narcotic drugs affects the reproductive system to the greatest extent.
Infections during pregnancy. A number of infections viruses from the herpes family, cytomegalovirus, etc.) can affect fetal cell division during pregnancy. In this regard, it is necessary to consult a doctor in a timely manner, diagnose and treat such pathologies.
Radiation. Radiation is ionizing radiation. This is a stream of tiny particles that are able to penetrate through the tissues of the body. Irradiation of the genital area often leads to a violation of the structure of DNA molecules, which in the future may cause the development of a chromosomal disease in a child.
Unfavourable conditions environments. It is noted that in areas with unfavorable environmental conditions ( active mining areas, chemical waste disposal areas, etc.) the frequency of birth of children with chromosomal disorders is somewhat higher. This is because in these areas there are strong toxic substances that most people do not encounter in everyday life. Their impact may affect the division of germ cells.

All these factors partly predispose to the appearance of children with Lejeune's syndrome, but the true causes of this pathology are still unknown. A defective fifth chromosome also occurs in children whose parents have never been exposed to the above factors.

What do newborns with crying cat syndrome look like?

Despite the low prevalence of this disease, doctors quickly identified the range of symptoms and developmental anomalies that are characteristic of it. Most of them can be seen right at the time of birth. In this case, it is not worth evaluating each violation separately ( since they can also occur in other congenital pathologies), but the totality and combination of various symptoms.

The most typical manifestations of the disease immediately after birth are:

characteristic crying of the child;
change in the shape of the head;
characteristic shape of the eyes;
the characteristic shape of the auricles;
underdevelopment of the lower jaw;
low weight body;
developmental defects of the fingers;
clubfoot.

Typical baby cry

As mentioned above, the most characteristic symptom with Lejeune's syndrome, the child's crying is characteristic. It can be heard already in the first days after birth, since the defect of the larynx is formed during intrauterine development. The cry is heard at a higher pitch than normal children and is described by many pediatricians and parents as reminiscent of a hungry kitten meowing.

The cause of such crying is the following defects of the laryngeal cartilage:

reduction of the epiglottis;
narrowing of the airways in the epiglottis;
softening of cartilage tissue;
folds in the mucous membrane lining the cartilages of the larynx.

Since it is in this area that the vocal cords are located, a change in the timbre of the voice also occurs. The symptom is inherent in most newborns with feline cry syndrome. In about 10 - 15% of cases, the doctor does not recognize it, or it is simply absent ( the defect of the larynx is not so pronounced and does not lead to a change in crying). Unlike other disorders, which will be discussed later, it is the "cat's cry" that is a symptom that is characteristic only of Lejeune's syndrome. In other chromosomal diseases, similar changes in cartilage tissue are extremely rare.

Changing the shape of the head

A change in the shape of the skull is characteristic of most chromosomal diseases. With the syndrome of a cat's cry, such violations of intrauterine development are observed in more than 85% of newborns. The most common change is microcephaly. This is the name of the overall reduction of the skull in size. The head of the newborn becomes small and somewhat elongated in the longitudinal direction. In some cases, this symptom is not immediately noticeable. For confirmation, craniometry is performed. It is a measurement of the basic dimensions of the skull. If the longitudinal dimension ( from the back of the head to the bridge of the nose) is increased relative to the transverse ( between prominences of the parietal bones), speak of dolichocephaly. It is also characteristic of Lejeune's syndrome. This symptom may be a variant of the norm, therefore, attention is paid to it precisely with concomitant microcephaly.

Microcephaly in a newborn is always accompanied by progressive mental retardation in the future, but the degree of developmental delay does not always correspond to the severity of the skull deformity.

characteristic eye shape

Abnormal shape and position of the eyes is also a common sign of chromosomal disorders. In part, they are due to the abnormal development of the cranial bones, which was discussed above. Most of these symptoms are also characteristic of Down syndrome.

From the side of the eyes, there are 4 main signs of Lejeune's syndrome:

Anti-Mongoloid incision of the eyes. This symptom distinguishes crying cat syndrome from many other chromosomal disorders ( including Down syndrome), but it does not occur in all newborns. With an anti-Mongoloid incision, the palpebral fissures go at a slight angle ( from the bridge of the nose to the side and down). The inner corner will always be higher than the outer corner. Thus, if you look closely, you can see a triangle on the child’s face, the top of which will be the bridge of the nose, the side faces are diagonally located eyes, and the base will be the tip of the nose. With a Mongoloid cut, the opposite is observed - the outer corners will always be located higher than the inner ones.
Strabismus. Strabismus ( strabismus) is called a violation of the symmetry of the corneas in relation to the edges and corners of the eyelids. Because of this, the child cannot focus his vision fully on a certain object, and, as a rule, the vision of such children is significantly reduced. There are various forms of strabismus. It may be vertical when the deviation of the visual axes occurs either up or down) or horizontal ( convergent or divergent strabismus). There is also monocular and alternating strabismus. At the first, only one eye is squinted, and the child never uses it. The alternating form is characterized by alternating strabismus, when the child looks in turn with one or the other eye. The causes of strabismus in children with Lejeune's syndrome are underdevelopment of the muscle tissue around the eyeball or anomalies in the development of the nervous system ( eye movements are controlled by cranial nerves).
Ocular hypertelorism. Hypertelorism is generally referred to as an increase in the distance between two paired organs. With the syndrome of a cat's cry, ocular hypertelorism is most characteristic, when a newborn has too wide a planting of the eyes. The distance is measured both between the inner corners of the palpebral fissures and between the pupils. This symptom can also occur in other chromosomal diseases.
epicanthus. Epicanthus is a special fold of skin at the inner corner of the eye. Normally, it, in most cases, is found in representatives of the Mongoloid race. The epicanthus is an adaptive apparatus for these peoples, protecting their eyes from dust and wind. However, for children with crying cat syndrome, this is a congenital and mostly cosmetic defect. You can only notice it with a careful examination of the eye fissure. The combination of epicanthus with an anti-Mongoloid incision of the eyes is a rather rare phenomenon, which with a high probability speaks of the cat's cry syndrome.

The characteristic shape of the ears

Defects in the development of the auricle in newborns with Lejeune's syndrome are expressed in their abnormal shape and location. The most common is ptosis. This term refers to the lowering of an organ compared to the norm. Ptosis of the ears also occurs in other chromosomal diseases.

The shape of the ears can be changed in different ways. Usually there is an underdevelopment of the cartilages that form the auricle. Because of this, the ear seems smaller in size, and the ear canal can be severely narrowed. Sometimes on the skin around the auricle you can see small compacted nodules.

Underdevelopment of the lower jaw

Underdevelopment of the lower jaw is also called microgenia or micrognathia. With feline cry syndrome, it is a fairly common symptom. Due to a chromosomal defect, the bone that forms the lower jaw does not reach the required size during pregnancy. As a result, in a newborn, the chin is somewhat retracted in relation to the upper jaw.

There are two forms of micrognathia:

Bilateral micrognathia. This option is the most common. Both branches of the lower jaw are underdeveloped with him. Because of this, the bone is reduced, but retains symmetry. A fairly wide gap is formed between the rows of teeth ( up to 1 - 1.5 cm). Sometimes this makes it very difficult for the child to close his mouth.
Unilateral micrognathia. In this case, there is underdevelopment of only one of the branches of the lower jaw. The chin is somewhat retracted, but the face is not symmetrical. The gap between the teeth runs obliquely. This form of micrognathia is rare.

In general, underdevelopment of the lower jaw is relatively common and is not always a sign of a chromosomal disease. Therefore, in the process of a preliminary examination of a child, micrognathia does not clearly indicate pathology, but is only an occasion for a more careful examination of the baby for other anomalies.

Micrognathia is a serious problem for doctors and parents from the first days after birth. Children with crying cat syndrome, who are usually born with low body weight, experience nutritional difficulties. Due to the deformed lower jaw, they cannot normally close their lips around the mother's nipple. The sucking reflex is impaired, which can make breastfeeding simply impossible.

Low body weight

Low body weight occurs in more than 90% of newborns with Lejeune's syndrome. It is due to a serious delay in the development of organs and tissues. IN recent weeks before birth, the fetus gains weight. With this disease, this usually does not happen. The average weight of a child with this disease does not exceed 2500 g. At the same time, the gestational age may be normal ( full term baby).

There are also cases when a child is born prematurely, prematurely. Then the body weight will be reduced even more. In addition, these children are more likely to have other anomalies and malformations of the internal organs. This predisposes to complications and worsens the prognosis for the future. Reduced body weight ( especially if there are other signs of crying cat syndrome) always speaks of the need for increased attention and qualified care for the child.

Finger developmental defects

Defects in the development of fingers in children with chromosomal pathologies are quite common. Usually we are talking about the so-called syndactyly. In this case, fusion of the fingers occurs on the hands or feet of the newborn. The fingers can only be connected by a skin membrane, which is easy to dissect during surgery. Then the correction of a birth defect is not particularly difficult. If we are talking about the fusion of bone tissue, then the defect is much more serious. Outwardly, syndactyly will look like a thickened finger ( sometimes even with one nail plate). Such serious defect much harder to fix.

Another possible defect in the development of the fingers is the so-called clinodactyly. With it, the child has a curvature of the fingers in the joints. If you straighten the newborn's hand, some fingers do not lie parallel with the rest. There is also a partial rotation of the finger around its axis. Bending in this case may not be possible. Clinodactyly occurs on one or both hands and usually affects the ring and little fingers. On the feet, this symptom is more difficult to notice due to the smaller size of the fingers. This malformation can be corrected in the future by surgery.

Regardless of the type of clinodactyly or syndactyly, these signs are usually only cosmetic defect and do not represent serious problems for health in general.

Clubfoot

Clubfoot is the result of a malformation of the bones and joints of the lower limb. This is a change that is characterized by a strong deviation inward of the foot in relation to the longitudinal line of the lower leg. In the long run, children with this defect may have trouble walking on two legs ( they start walking later). This symptom is not specific to crying cat syndrome and can occur with many other diseases.

The analysis of the above symptoms is done immediately after the birth of the child. If an appropriate diagnosis was made during pregnancy, and doctors are aware of the chromosomal mutation, then these symptoms make it possible to assess the severity of malformations. If prenatal diagnosis ( diagnosis before birth) was not done, then all these signs help to suspect the correct diagnosis. Evaluate the child is usually the totality of all symptoms. The characteristic crying and changes in the shape of the eyes are of the greatest diagnostic value.

What do babies with crying cat syndrome look like?

Since the survival rate of children with crying cat syndrome is quite high, you should know what awaits parents as their child grows and develops. In most cases, children with this pathology develop much more slowly than their peers. Many congenital developmental defects lead to a number of characteristic difficulties faced by such patients.

The characteristic symptoms and manifestations of feline cry syndrome in childhood are:

mental retardation;
decreased muscle tone;
impaired coordination of movements;
moon face;
short neck;
lability of behavior;
vision problems.

mental retardation

Mental retardation becomes noticeable in the first years of life. In the absence of serious anomalies in the development of internal organs, it becomes the main symptom. Children with crying cat syndrome progress in development, but are far behind their peers. They experience problems with speech skills, the ability to learn is greatly reduced. In most cases, there is a serious delay in self-identification ( when a child continues to talk about himself in the third person for a long time). In those rare cases where children survive to school age ( about 12 - 15% of patients), their mental development does not allow mastering the usual program. It is recommended to study at home or in special schools, where the methodology is based on rote memorization and repetition of basic skills.

Decreased muscle tone

Reduced muscle tone is a consequence of problems in the development of the nervous system. Sometimes there is also underdevelopment of certain muscles. In early childhood, the sucking reflex may be impaired ( the child is tired and cannot eat for a long time). Somewhat later, postural disturbances may be noted ( children cannot keep their back straight for a long time). Walking classes quickly tire babies. At school age, muscles are weakened and children cannot do hard work.

Impaired coordination of movements

Impaired coordination is due to underdevelopment of the cerebellum. This department is located in the back of the brain, which is poorly developed in children with Lejeune's syndrome ( due to microcephaly). The volume of the cranium is reduced. Thus, the cerebellum cannot perform its functions normally and coordinate movements. The child does not walk well, does not keep balance well, often falls. Such problems are not observed in all children, their severity depends on the degree of underdevelopment of the nervous tissue of the cerebellum.

constipation

Constipation can appear in the first months after birth or at the age of several years. Most often, they are associated with abnormally narrowed areas of the digestive tract. In addition, the nervous regulation of intestinal tone is disturbed. In other words, there are no normal contraction waves that push the feces through the intestines.

moon face

The moon-shaped oval face is a consequence of dolichocephaly and anomalies in the development of the skull. The bones of the facial skull are larger than the brain box. This creates a characteristic appearance. It is present in most patients in both childhood and adulthood.

short neck

A short neck may not be very noticeable at birth. In the first months and years of life, this malformation becomes more and more obvious. Children cannot turn their head at the same angle as healthy people. This is due to the underdevelopment of the cervical vertebrae and cartilage tissue between them.

Emotional lability

Emotional lability is expressed mainly in frequent shifts moods. Children can quickly change from crying to laughter, even for no apparent and understandable reason. These violations are explained by malformations of the nervous system. In addition, in children's groups, patients may show aggression, excessive activity. In this regard, a separate, more thorough care for children with this pathology is recommended.

vision problems

Vision problems occur in the first years of life due to disturbances in the development of the organ of vision. Most often, children need glasses as early as 2-3 years old. Given the low learning ability and unpredictability of behavior during this period, parents usually refuse to wear glasses.

Some of these symptoms are immediately noticeable. The anti-Mongoloid section of the eyes, their wide set and lowered ears, which were noted at birth, become more and more noticeable as they grow. Most people, even at the first glance at such a child, will quickly find that he has several differences from normal children. However, specific external signs that would unequivocally indicate that the child was born with cat's cry syndrome ( not with another chromosomal disorder), does not exist.

What do adults with crying cat syndrome look like?

As mentioned above, with Lejeune's syndrome, patients have a chance of surviving to adulthood. Isolated cases are described when patients died at the age of 40-50 years. Unfortunately, their number is too low to speak of any symptoms or external signs of the disease that would be characteristic of such patients.

At the age of 18-25 years, until which less than 5% of children live, mental retardation comes to the fore. The patient is unable to do any work. With a mosaic form of the disease, the ability to learn is somewhat better. Such patients have a chance to be integrated into society. The appearance of patients is characterized by the same congenital disorders that were described at birth. Sometimes accelerated skin aging is observed.

Diagnosis of genetic pathology

Diagnosis of any genetic pathology ( including cat cry syndrome) goes through two stages. At the first stage, doctors conduct a general examination of patients in order to identify those women who have an increased risk of having a child with chromosomal diseases. The second stage is carried out in order to confirm a specific diagnosis. Both stages, as a rule, are carried out in specialized institutions - prenatal diagnostic centers. Prenatal diagnostics is a complex of preventive studies that are carried out by pregnant women at the prenatal stage. These procedures are capable of detecting various genetic diseases at an early stage of pregnancy, including the cat's cry syndrome.

There are the following methods for diagnosing feline cry syndrome:

collection of anamnesis;
karyotyping of parents;
ultrasonography;
blood test for plasma markers;
invasive research;
diagnosis at the postpartum stage.

Collection of anamnesis

History taking is the first step in diagnosing chromosomal diseases. It is an ordinary interview with a pediatrician or geneticist. During the survey, the doctor finds out whether there are cases of genetic pathologies in the family, what risk factors the parents were exposed to. All this creates a certain picture and helps to understand how likely the birth of a child with a chromosomal pathology. The most responsible couples go through this stage even before the moment of conception. In certain cases ( at a serious risk of having sick children) the doctor may not advise having a child. However, this advice is only a recommendation and is not binding.

Karyotyping of parents

If the doctor considered that the risk of a chromosomal abnormality is higher than the average for the globe ( there are risk factors), then he appoints karyotyping of the parents. This test is a simple blood draw. After that, cells are isolated from the obtained material and their nucleus is studied. With special staining methods under a microscope, chromosomes become clearly visible. Their formula ( 46.XX for women and 46.XY for men) is called a karyotype. If either of the parents has minimal deviations from the norm, the chance of pathology in the child increases even more. At this stage, it is impossible to determine to which genetic or chromosomal disorder there is a predisposition. There can be no changes specific to the cat's cry syndrome in parents.

Ultrasonography

Ultrasonography (ultrasound) is carried out after conception. With the help of a special apparatus that generates and captures sound waves, the doctor receives an image of the fetus. Individually defined anatomical structures can also be evaluated. In the absence of risk factors, it is recommended to do ultrasound three times during pregnancy. If there are special indications ( risk of chromosomal abnormality) additional sessions can be assigned.

There are no changes specific to the cat's cry syndrome at this stage of diagnosis. Even if there are certain disorders in the development of the fetus or during pregnancy, the doctor cannot make a correct diagnosis. It only reveals signs that speak of developmental disorders. The probability that the born child will have any genetic disease is already very high in this case.

The most common non-specific signs of chromosomal mutations on ultrasound are:

enlarged collar area;
polyhydramnios;
visible heart defects;
brachycephaly or dolichocephaly;
atresia ( obstruction) intestines;
oligohydramnios;
shortening of tubular bones.

Often, in the presence of these symptoms, the fetus dies in the womb or the child is born dead. This is relatively common in 'Crying Cat Syndrome'. If the doctor sees serious malformations on ultrasound, but there is no threat of spontaneous termination of pregnancy, he may allow an abortion according to medical indications. In most countries ( according to the latest recommendations of the World Health Organization) The deadline for legal abortion is the 22nd week of pregnancy. Therefore, it is imperative to do an ultrasound before this time. If a decision is made to leave the child, they proceed to the next stages of diagnosis to determine the specific pathology.

Blood test for plasma markers

Plasma markers of chromosomal diseases are a number of substances that may indicate problems with the course of pregnancy and fetal development. These substances are found in the blood of a pregnant woman, and their concentration changes to different terms pregnancy. Blood is donated for this test. The accuracy of the study is quite high, but according to its results it is impossible to determine what kind of genetic disease the child will have. In addition to the cat's cry syndrome, similar changes can be observed in Down syndrome, Patau, Edwards, etc.

To assess the likelihood of having a child with a chromosomal disease, the following markers are checked:

chorionic gonadotropin;
protein A;
estriol;
alpha-fetoprotein.

Invasive Research

Invasive studies are a group of diagnostic procedures in which tissue is taken from the fetus itself for analysis. The received material will be subjected to a thorough check. Since we are talking about the study of the genome of the unborn child itself, the accuracy of invasive studies is very high. In particular, already in the first trimester it is possible to say with a probability of 98 - 99% what kind of genetic disease the child will have. Such early diagnosis and high accuracy allow mothers to make an informed and informed decision whether to terminate a pregnancy.

The most common invasive research methods are:

Cordocentesis. With cordocentesis, a puncture is made, during which the doctor receives blood from the umbilical cord. Vessels containing the blood of the fetus pass through this cord. The cells of this blood, in turn, contain a set of chromosomes that can be examined for various abnormalities.
Amniocentesis. Amniocentesis also involves puncture. In this case, the amniotic fluid that surrounds the fetus inside the placenta is taken for research. This liquid contains however, in small quantities) cells of a developing organism.
Chorionic biopsy. Chorion is the outer shell developing fetus, which contains the cells of a growing organism ( chorionic villi). The collection of these cells is done using a special injection through the anterior abdominal wall of the mother. Properly performed procedure does not cause any harm to the fetus.

In all three of the above studies, special thin needles and an ultrasound machine are used for more accurate puncture ( with its help guide the needle in the right direction). These tests are not done for all patients. The main indication is the age of the expectant mother ( over 30 - 35 years) and the presence of cases of chromosomal diseases in the family. Of the complications of these procedures, the possibility of spontaneous abortion or intrauterine death of the fetus should be noted. The risk of such an outcome is on average 1 - 1.5%.

Diagnosis at the postpartum stage

After the birth of a child, it is no longer difficult to make a correct diagnosis. The tissues of the newborn itself are available for research, and revealing its DNA is a matter of several days. However, even if doctors discovered Lejeune's syndrome before birth, the diagnostic process does not end there. To increase the chances of a sick child to survive, a detailed diagnosis of all body systems should be carried out. This will make it possible to effective plan treatment and child care.

Newborns with feline cry syndrome should have the following tests and studies:

consultation with a neonatologist or pediatrician;
electrocardiography and echocardiography to detect malformations of the heart;
radiography or ultrasound to detect abnormalities in the development of the digestive tract;
complete blood count and biochemical blood test, as well as urinalysis ( problems such as the preservation of fetal hemoglobin for a long time, a low level of albumin in the blood are typical here).

The list of tests can be very voluminous and depends primarily on what violations are found in the child. as it grows ( in the first years of life) it is advisable to consult a pediatric ophthalmologist, ENT doctor and other highly specialized specialists.

Prognosis for children with crying cat syndrome

Despite advances in the care and treatment of children with chromosomal disorders, the prognosis for children with crying cat syndrome generally remains poor. Most of them ( about 90%) do not live past the age of ten. However, there are cases when patients with this pathology lived up to 40-50 years. It is not possible to predict life expectancy immediately after the birth of such a child. It is influenced by many different factors.

The duration and quality of life of newborns with Lejeune's syndrome depends on the following conditions:

the severity of congenital malformations;
success of surgical treatment if necessary) in the first years of life;
quality of medical care;
type of genetic mutation ( complete absence of the 5p arm of the chromosome, partial absence, mosaic or ring mutation);
individual sessions.

As you can see, caring for such a child is very expensive. There are special funds, programs and organizations that help parents with such children. However, mortality remains high, especially in the first years of life. This is due to numerous defects in the development of internal organs.

Most often in children with Lejeune's syndrome, anomalies in the development of the following systems are found:

respiratory system;
urinary system;
the cardiovascular system ( CCC);
digestive system;
anomalies in the development of the eyes;
hernias and their complications.

Respiratory system

As mentioned above, a specific symptom in children with crying cat syndrome is a deformity of the laryngeal cartilages, which causes characteristic crying. With age, this symptom disappears, however, defects in the development of the upper respiratory tract do not pass without a trace. From about 1.5 - 2 years old, children begin to get sick often colds. The risk of developing pneumonia of various origins is several times higher for them than for other babies. Such soreness further exacerbates the lag in the physical development of the child. In severe pneumonia, death is not excluded.

genitourinary system

Violations in the development of the genitourinary system are found in almost all chromosomal diseases. With feline cry syndrome, they can be observed in both girls and boys. The first symptoms are noticed in the first days or weeks after birth. In some cases, malformations of the genitourinary system can even pose a threat to the life of the child.

The most common malformations of the genitourinary system in patients with Lejeune's syndrome are:

hypospadias. Hypospadias is a congenital anomaly of the penis in boys, characterized by the appearance of the urethra in the wrong place. This defect creates great difficulties for children during urination. There may be soreness or urinary retention. Hypospadias can be corrected with surgery.
Hydronephrosis of the kidneys. Hydronephrosis of the kidneys is a pathological condition in which there is a violation of the outflow of formed urine from the kidney to the ureter. The intermediate region in which this occurs is called the renal pelvis. Over time, the accumulating fluid in the pelvis leads to overstretching of the walls of the pelvis. normal kidney tissue parenchyma) is compressed and its cells die. To prevent kidney failure, urine flow is provided artificially, and the malformation is corrected surgically.

In the future, anomalies in the development of the organs of the genitourinary system and the surgeries to correct them predispose to other diseases and complications ( pyelonephritis, glomerulonephritis, etc.).

The cardiovascular system

For Lejeune's syndrome, there are no specific anomalies in the development of CCC, characteristic only for this disease. All defects occurring in this pathology can be conditionally divided into defects in the development of the heart and defects in the development of blood vessels.

With defects in the development of the heart, either the valves or the walls of the chambers of the heart can be affected ( sometimes there is a simultaneous defeat of these anatomical structures). With vascular malformations, their quantitative changes are observed ( the appearance of additional vessels or vice versa their absence), positional changes ( change in localization of blood pressure. Often, it is severe CVD malformations that cause the early death of children with cat's cry syndrome. If the above symptoms appear, you should contact your pediatrician or cardiologist to find out their causes. Many congenital CVD malformations can be corrected surgically if this allows. general state child.

Digestive system

The most common malformations of the gastrointestinal tract ( gastrointestinal tract) in patients with crying cat syndrome is stenosis ( pronounced constriction) or atresia ( complete blockage) clearance. They can occur at various levels - from the esophagus to the large intestine. With stenosis of the esophagus and stomach, there is a violation of swallowing and food advancement, and with intestinal stenosis - a delay stool. Together, this leads to a violation of the process of digestion, assimilation of food, to vomiting, lack of appetite, and weight loss. Some defects pose a direct danger to the life of a newborn child.
Anomalies in the development of the eyes
Along with external changes eye ( antimongoloid incision, hypertelorism, and other symptoms mentioned above), in children with cat's cry syndrome, violations of the internal structure of the eyeball are also observed. Especially common changes in the fundus, which are characterized by depigmentation of the retina and atrophy ( malnutrition) optic nerve. Also, these patients have such congenital diseases as astigmatism and glaucoma.

In general, this reduces visual acuity and can lead to progressive myopia and early blindness. When confirming the diagnosis of Lejeune's syndrome, you should consult an ophthalmologist, since some malformations are invisible at first. At the same time, if such a disease as glaucoma is not detected in time and timely treatment is not started, this will quickly lead to irreversible loss of vision.

Hernias and their complications

A hernia is a condition in which organs from one anatomical cavity are mixed into another. Such a movement occurs either through the normal ( existing, physiological), or through a pathological opening. At the same time, the membranes covering the contents of the hernial sac remain intact. The main reason for the development of this pathology is a change in the balance of intra-abdominal pressure or a congenital defect in the muscular walls.

In patients with Lejeune's syndrome, two main types of superficial hernias are more commonly observed:

Inguinal hernia. With such a hernia, the abdominal organs are mixed into the inguinal canal ( anatomical formation located in the groin area). Normally, vessels pass through this canal, the spermatic cord in men and the ligament of the uterus in women.
Umbilical hernia. This is one of the types of congenital hernia, in which loops of the intestines and other organs of the abdominal cavity move outside of it, under the skin. The navel serves as the outlet for the hernial sac.

From the side, superficial hernias look like protrusions located directly under the surface of the skin and are soft to the touch. The size of these formations can vary widely. It depends on the size of the outlet, the number of organs, the presence of fluid in the hernial sac and other reasons.

For children with Lejeune's syndrome, the main danger is the complications of superficial hernias:

Compression of the organs in the hernial sac. More often, squeezing of the organs occurs in the region of the opening through which the organs exit. This leads to impaired blood supply and drainage ( outflow of lymph and venous blood).
Violation of the function of organs located in the hernial sac. Violation of the function of organs is a consequence of their compression. A classic example is coprostasis in umbilical hernia ( stop the movement of feces in the intestines).
Inflammation of the organs that are in the hernial sac. This complication is also a consequence of squeezing organs. Inflammation begins due to circulatory disorders. There is swelling of the organs, the movement of bacteria from one cavity to another, the development of necrosis ( tissue death).

These complications should be corrected surgically as soon as possible, as they pose a serious danger to the life of the child.

Often there are various combinations of anomalies:

single-system, in which there is an association of two or more defects within one organ system ( for example, changes in several heart valves);
two-system, at which there is an association of defects within two systems ( for example, open foramen ovale and narrowing of the esophagus);
polysystemic, in which there is damage to organs in various systems ( in two or more).

This classification directly affects the forecast for specific child. With multisystem developmental anomalies, survival is usually very low. At the same time, with the timely correction of single-system disorders, children can grow and develop. The main problem in these cases is mental retardation.

For children who have experienced a period of high mortality and have reached school age, the main problem is oligophrenia. This is the name in medicine of the delay in the intellectual development of the child. Psychiatrists are assessing its severity. With cat's cry syndrome, children usually have severe forms of oligophrenia, in which normal learning is almost impossible. With a favorable course of the disease and the absence of various complications, defectologists can deal with the child. This will help develop certain motor skills and develop some reflexes. However, children with this syndrome are not capable of self-care and need care throughout their lives. In addition to a delay in intellectual development, the child begins to walk later, there may be difficulties with breastfeeding, urinary incontinence and other problems.

The cat's cry syndrome, which is also called Lejeune's syndrome, is a fairly rare chromosomal disease, which is characterized by a defect in the structure of the fifth chromosome. With this chromosomal defect, various severe malformations of internal organs and tissues are noted. Children with crying cat syndrome very often suffer from complications that occur when there is a defect in the fifth chromosome.

According to statistics, cat cry syndrome is not a very common chromosomal pathology. So, this disease occurs in 1 child in 30-60 thousand newborns. At the same time, the occurrence of Lejeune's syndrome does not depend on the region or climatic conditions. However, it is noted that the female sex is a risk factor.

Compared to most other hereditary pathologies, crying cat syndrome has a relatively favorable prognosis. With this pathology, children can live up to middle age with appropriate medical care and avoiding the development of serious complications. However, people with this disease cannot normal life without physical or mental disabilities.

The crying cat syndrome was originally discovered and described in the mid-twentieth century by the geneticist Jerome Lejeune, after whom the syndrome was named.
This pathological condition has specific symptoms, according to which it can be diagnosed in only born children.
This syndrome is characterized by a specific cry of the child (shrill and very loud), which resembles the meow of a cat. With this disease, there is a defect in the development of the laryngeal cartilage.
With Lejeune's syndrome, patients have a normal amount of chromosomal material, which distinguishes it from other genetic pathologies. There is only a slight lack of the fifth chromosome, which is the cause of the disease.

Causes of the cat's cry syndrome

Lejeune's syndrome is a chromosomal pathology. The leading cause of crying cat syndrome is a change in the structure of chromosomes in the child's gene information. The genome contains all the information about an organism. The genome contains 23 pairs of chromosomes. Chromosomal diseases occur due to a violation of the integrity of any of the chromosomes.

The crying cat syndrome is characterized by the fact that in the genome every fifth chromosome will have a defect in any cell, regardless of its function. With this pathology, the fifth chromosome does not have a short arm, on which a large number of genes are localized. Such a pathological condition in genetics is called a deletion (absence of a certain section of DNA).

There are several variants of mutations that are factors in the development of the syndrome:

The absolute absence of a short arm on the fifth chromosome. This option is typical for a very severe course of the disease.
A decrease in the short arm is characterized by the loss of certain genetic information. With this form, there is a loss of gene information, which leads to the appearance of this syndrome.
The mosaic variant of Lejeune's syndrome is a relatively mild course of the disease (less pronounced physical and mental abnormalities). With this form of the disease, the genome initially changes its structure during the growth of the embryo. During the division of the fifth chromosome, the short arm was lost, which caused the disease.

The cat's cry syndrome, the mutation of which is located on the fifth chromosome, is observed with all of the above variants of deviations. In this case, specific symptoms are noted, which are the result of the division of cells that have a defective gene. The division of such cells is characterized by less intensity, since they lack the necessary chemical components. Due to this, children with crying cat syndrome often have low body weight.

As a rule, a defect in the fifth chromosome is inherited from one of the parents. The main cause of the cat's cry syndrome is not clear, since the development of this pathology is due to many factors that affect from environment. These factors lead to disruption of the process of zygote division at the very beginning of pregnancy or damage to the germ cells of one of the parents.

Factors that provoke the development of pathology of the fifth chromosome:

The age of the woman who is the mother of the child. The likelihood of hereditary diseases increases with the age of the mother. For the syndrome, this dependence is rather weak. With this pathology, the risk of developing the disease increases after 45 years in the mother. At the same time, the age of the father does not affect the risk of developing Lejeune's syndrome;
Smoking. Smoking is especially dangerous at a young age, when there is an active formation of the reproductive system. This is common cause chromosomal pathology;
Alcohol acts in the same way as smoking (there is a violation of biochemical processes, which significantly increases the risk of chromosomal abnormalities); Some drugs adversely affect reproductive organs including chromosome mutations. This is especially true when taking drugs in the first trimester of pregnancy. This contributes to the development of the risk of a mosaic form of Lejeune's syndrome. At the same time, narcotic substances are the most teratogenic;
Crit-Cry Syndrome, a mutation in which can be observed in the presence of intrauterine infections;
Radioactive radiation directed at the genitals is often manifested by chromosomal mutations;
Unfavorable environmental conditions. Scientists note that in regions where toxic minerals are mined, the birth of children with chromosomal diseases is often observed.

The cause of crying cat syndrome often lies in one of these factors, but there are cases when parents who are not affected by the above factors have children with crying cat syndrome.

Appearance of newborns with cat's cry syndrome

Scientists have identified a set of symptoms and syndromes that collectively are characteristic of the cat's cry syndrome. These symptom complexes can be seen immediately after the birth of a child. Typical symptoms of the disease that are observed immediately after the birth of the baby:

Specific crying of a newborn baby.
Anomalies in the development of the bones of the skull.
A certain shape of the eye slits.
Atypical ear cartilage.
Agenesis of the lower jaw.
Low birth weight.
Anomalies in the development of the bone apparatus of the hand.
Clubfoot.

The cat's cry syndrome is constantly manifested by the specific crying of the child. The defect of the fifth chromosome is clinically manifested in the first minutes after the birth of a child with a characteristic cry in the form of a cat's meow. This cry differs in tone from the cry of normal children. The reason for this is:

Reducing the size of the cartilage of the epiglottis;
Reducing the lumen of the airways in the projection of the epiglottis;
Abnormal increase in cartilage elasticity;
The formation of folds in the mucous membrane that lines the cartilage of the larynx.

Since these changes occur in the area of the vocal cords, the tone of the voice changes in children.

Anomalies in the development of the head

Children with cat's cry syndrome in more than 80% of cases have anomalies in the development of the shape of the skull. Most often, microcephaly is observed, which is accompanied by a decrease in the size of the skull. Therefore, in newborns, the head has an oblong shape and is proportionally smaller than the size of the body. In order to confirm the diagnosis of microcephaly, it is necessary to do craniometry. Microcephaly is always accompanied by encephalopathy of varying severity.

The specific shape of the palpebral fissures

This symptom is characteristic of many chromosomal diseases, including Lejeune's syndrome. Basically, this anomaly is due to the pathological shape of the skull bones. Children with crying cat syndrome have eye developmental disorders that can be distinguished by four features:

The anti-Mongoloid ocular incision is distinguished by the fact that the medial angle of the eye is always higher than the outer one;
Strabismus is characterized by an asymmetric arrangement of the corneas in relation to the eyelids;
Hypertelorism of the eyes is characterized by a wide landing of the eyeballs;
The epicanthus is a fold at the inner corner of the eye.

Violation of the shape of the outer ear

For newborns with cat's cry syndrome, the presence of changes in the structure and localization of the auricles is characteristic. The most common pathology is ptosis of the auricles. This is a consequence of the underdevelopment of the cartilage of the ear, which is visually represented by a decrease in the size of the ears. Also near the auricles on the skin, peculiar compacted skin nodules can be observed.

Agenesis of the mandible

Underdevelopment of the lower jaw is manifested by micrognathia or microgenia. During pregnancy, due to chromosomal abnormalities, the bone that forms the lower jaw may not reach the desired size. All this leads to retraction of the chin in relation to the maxillary bone. Frequent forms of micrognathia are bilateral or unilateral. In general, impaired development of the lower jaw in such children leads to difficulty in feeding (the child cannot completely close his lips near the nipple, which leads to a violation of the sucking reflex).

Pathologically reduced weight of the child

Newborn babies with crying cat syndrome often have an abnormally low birth weight. This is a consequence of severe violations of the development of internal organs.

Pathology of the development of bones of the bone apparatus

The syndrome of a cat's cry is often manifested by the development of syndactyly. This syndrome is characterized by fusion of the fingers and toes of the child. In this case, it is possible to connect the fingers only with a thin skin membrane, which is easy to fix with the help of surgical intervention. In the case of finger fusion with bone tissue, it is much more difficult to correct this pathology.

Clindactyly can also be observed, which is characterized by a violation of the shape of the fingers in the joints of the hand and foot.

Clubfoot

This symptom is manifested in the presence of anomalies in the development of the bone apparatus of the lower limb. Clubfoot is a violation of the location of the foot in relation to the axis of the lower leg. In the future, these children may have problems with walking. The combination of these symptoms can be diagnosed at the prenatal stage.

Features of children with cat's cry syndrome

The survival rate of children with this syndrome is quite high, so many of them reach adolescence. Children with crying cat syndrome have phenotypic features of appearance:

Mental retardation;
Decreased muscle tone;
Decreased coordination of movements;
constipation;
moon face;
Shortened neck;
Labile nervous system;
Visual impairment.

Mental retardation

Often this symptom becomes noticeable in the first years of a child's life and is one of the important diagnostic features of this disease against the background of full health.

Decreased muscle tone

This symptom develops in the pathology of the nervous system or the defective development of certain muscles. Clinically, this is noticeable in the form of increased fatigue in children while walking.

Decreased coordination of movements

This manifestation of the cat's cry syndrome develops with underdevelopment of the cerebellum, since such children have microcephaly.

constipation

This symptom is noted due to a pathologically narrowed gastrointestinal tract, as well as due to a violation of the neurohumoral regulation of the intestine.

Moon shaped face

This symptom occurs as a result of a violation of the development of the bones of the skull and dolichocephaly. In this case, the bones of the facial part of the skull are larger than the brain.

short neck

At given symptom It is difficult for children to turn their heads in different directions. This occurs as a result of underdevelopment of the cervical vertebrae and cartilage between them.

Lability of the nervous system

These children often change their mood for no reason. This is a consequence of the underdevelopment of the nervous system. Often such children show increased aggressiveness and activity in children's groups.

Visual impairment

This symptomatology occurs due to a violation of the development of the organ of vision.

Diagnosis of feline cry syndrome

Diagnosis of any chromosomal abnormality is carried out in two stages. The first stage is to identify women who have an increased risk of developing children with a chromosomal pathology. The second stage is carried out to confirm a specific disease. Thus, all pregnant women need prenatal diagnostics, which is a complex of diagnostic studies at the prenatal stage. Thanks to these activities, early dates Genetic anomalies are identified, among which there is also a syndrome of a cat's cry.

The feline cry syndrome includes the following diagnostic methods:

Anamnestic data;
Karyotyping of both parents;
Ultrasonography;
Blood test for the detection of plasma markers;
Invasive research methods;
Research at the postpartum stage.

Detailed history taking

A detailed survey of parents by a pediatrician or geneticist.

Karyotyping of parents

At increased risk development of a chromosomal abnormality, the doctor prescribes this study, which allows you to fully study the structure of the cell and its nucleus.

ultrasound

Common non-specific signs of feline cry syndrome on ultrasound:

Increase collar space;
Increased or reduced amount amniotic fluid;
Anomalies in the development of the heart;
Brachycephaly or dolichocephaly;
Intestinal obstruction;
Short tubular bones.

A blood test for plasma markers includes the following studies:

Definition of hCG;
Detection of the level of protein A;
Determination of the concentration of estriol;
Determination of alpha-fetoprotein.

Invasive methods

The most commonly used invasive techniques are:

Cordocentesis;
Amniocentesis;
Chorionic biopsy.

Postpartum diagnosis includes:

Consultation of a neonatologist;
Functional study of the heart;
Radiography and ultrasound of the digestive tract;
Clinical analysis of blood and urine.

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Crimson Syndrome is a rare genetic diseases, Chromosomal mutations, anomalies. In these disorders, entire chromosomes or large segments of them are missing, duplicated, or otherwise altered.

Professional reference article based on British and European medical scientific evidence.

Lejeune / cat's cry syndrome, also called Cri-du-chat (Cree-du-chat, CdCS), CHB, 5p- (5 P minus), sentinel, congenital disorder of partial autosomal deletion (removal) of the short arm of chromosome 5.

Named for its distinctive cat-like shrill cry. It is characterized by growth failure, congenital pathologies, general disability, mental retardation throughout life. Found in all ethnic groups. It was described by the French geneticist, pediatrician Jerome-Jean-Louis-Marie Lejeune and his colleagues in 1963.

cat meow goes away as you get older. Clinical severity is related to the size of the removal.

Diagnosed in infants and early age based clinical symptoms confirmed by genetic analysis. May be detected before birth through prenatal testing on placental or fetal tissue samples collected by chorionic villus sampling or amniocentesis.

Causes

Crit-Cry/Lejeune Syndrome is caused by a partial deletion (monosome) of varying length of the short arm (p) of chromosome 5. The chromosomes present in the nucleus of cells carry the genetic information for each person. The pairs are numbered 1 to 22, with another 23 sex pairs, which include one X and one Y chromosome in males and two X in females. Each has a short arm, marked "p", and long arm stand for "q".

They are divided into many groups, which are numbered. For example, "5p15.3" refers to lane 15. The numbered lanes locate thousands of genes. Range and severity related symptoms varies depending on the specific areas affected.

Researchers have identified several genes that seem to play a role in Cri du Chat. The telomerase reverse transcriptase gene is located on short shoulder chromosome 5 bands 13,33 (5,13,33) and the semaphorin F gene at 5p15.2 contribute to a wide variety of traits.

Deletion of the d-catenin gene at 5p15.2 results in more severe mental disability because this protein is expressed during early neuron formation.

Most mutations occur spontaneously (de novo) for unknown reasons at the very beginning of embryonic development.

The parents of a child with a deletion usually have normal genes and a relatively low risk of having another child with the disorder.

Approximately 10-15% occurs due to a balanced translocation involving 5p and another chromosome. Translocations occur when regions are interrupted, rearranged, resulting in a shift in the genetic material, an altered set. Such translocations appear spontaneously for unknown reasons or are transmitted from the carrier of the translocation.

The translocation consists of a modified but balanced set and is harmless to the host. However, chromosomal rearrangement increases the risk of pathology in offspring. Genetic analysis determines if a parent has a balanced translocation.

Interesting Facts

In 80 percent, the deletion comes from the father's sperm and not from the mother's egg.

Prevalence, epidemiology

The incidence is reported to be between 1 and 15,000 and 1 in 50,000 live births.

There is a slight female predominance with a ratio of around 4:3.
Some cases go undiagnosed, making it difficult to determine the true incidence of this disorder in the general population.

80% of cases are new mutations, but approximately 15% have a parent with a balanced rearrangement. The rest are due to rare cytogenetic aberrations, such as mosaicism.

Symptoms and signs

There can be significant state fluctuations due to the change in the size of the delete.

Note hypertonicity, small, narrow face, bulging jaw, and facial expression secondary to facial weakness

Babies are small at birth and have trouble breathing. Often the larynx does not develop correctly, which causes a signal sound.

People who have been affected by the cat's cry have common symptoms and are very distinctive features.

They may have a small head (microcephaly), an unusually round face, a small chin, wide-set eyes, skin folds over the eyes, and a small bridge of the nose.

Over time, the face may lose its fullness, become abnormally long and narrow.

The most common signs in infancy are:

The characteristic cry, like the meow of a cat, gave the disease its name. Genetic studies have confirmed that this is the result of a deletion at 5p15.
The duration of crying is controversial, but disappears over time. About a third lost it by their second birthday. Although the characteristic sound is very common, it cannot be said to be pathognomonic, as it is observed in several other neurological disorders. Rarely, persistent stridor is present.