The concept of Lejeune syndrome, causes in children and symptoms with photos, diagnosis and treatment. Cat cry. the story of a rare girl with lejeune syndrome

Violations in the number or structure of chromosomes lead to congenital genetic diseases (Down syndrome, Swyer syndrome, Klinefelter syndrome, etc.). Such diseases are not treatable, because these are chromosomal pathologies, therapeutic methods are aimed at eliminating symptoms and maintaining a decent standard of living. One of the rare genetic diseases is the syndrome " cat's cry"(SKK).

What is 'Crying Cat' Syndrome?

Lejeune's syndrome was first described in 1963 by a French pediatrician, an outstanding geneticist who devoted his career to the study of chromosomal abnormalities, Jérôme Lejeune. This mutation has other names, for example, chromosome 5p- deletion syndrome, due to the occurrence of pathology. Another name - the syndrome of "cat's cry" - the anomaly received because of the characteristic sound made by sick children.

Lejeune's syndrome is a rather rare genetic disorder that occurs in 1 out of 50,000 newborns. It most often occurs in girls, the ratio of female to male patients is 4 to 3.

Causes of Lejeune's syndrome in children

A person has 22 pairs of chromosomes and the 23rd sex pair XX or XY, which defines him gender. Each chromosome has a long arm, which is denoted by the letter q, and a short arm, p. The arms are subdivided into numbered sections, each of which locates thousands of genes.

HSC is caused by partial monosomy of chromosome 5. As a result of chromosomal rearrangements - deletions - there is a loss of some part of the chromosome. In Lejeune's anomaly, the mutations affect the short arm and most often the 14th region, so the disease is often referred to as 5p14.

With SCM, it is possible different variants mutations:

complete absence of a shoulder - leads to severe pathologies, often incompatible with life;
loss of part of the shoulder - most common, symptoms depend on the lost fragment;
ring chromosome - both short arms are closed and connected to each other, with the deletion of telomeres.

Most mild form anomalies are found in mosaicism. Initially, the embryo receives normal chromosomes. Mutations begin after the formation of a zygote. Because of this, most cells have a normal chromosome set, and a minority have an abnormal one.

Why such a pathology occurs, scientists do not know. Only 10% of cases are related to heredity, and in 80% of them the inheritance comes from the father. The remaining cases are caused by spontaneous mutations.

Suggested factors that increase the risk of SBS:

radiation;
viral infections of the mother during pregnancy;
exposure to chemicals and toxic substances;
exposure to antibiotics, chemotherapy drugs and other medications;
the use of psychoactive substances;
mother's age is over 40 years.

Associated symptoms

The severity of symptoms varies depending on which part of the chromosome has been deleted. For children with an anomaly, the following symptoms are characteristic:

Specific crying that resembles cat meow. It is on this basis that the syndrome got its name. The reason for such crying is a change in the structure of the larynx - it is narrowed, the epiglottis is reduced, there are folds on the mucous membrane, the cartilage is soft. As a rule, this symptom disappears in 1-2 years. You can listen to how the characteristic crying sounds on the video.
Backlog in physical development. Babies are born weighing 20% less than healthy babies. They have low muscle tone. The head and brain are too small compared to other parts of the body, which is accompanied by mental retardation of varying severity.
The face is moon-shaped, the eyes are widely spaced. Epicanthus is present - a skin fold near inner corner eyes. With age, the face is elongated, becomes long and narrow. What a child with SCM looks like can be seen in the photo.

Wrong structure of the ears. They are too small, skin folds.
vices internal organs. The most common is patent ductus arteriosus, in which the duct between the pulmonary artery and the aorta is not closed. Sometimes babies have intestinal malrotation.
Lag in mental development. Depending on the severity of the pathology, moderate or severe mental retardation, speech delay develop. Only 50% of children know how to use a spoon by 3.5 years.

How is the disease diagnosed?

If parents in the family met diseases caused by chromosomal abnormalities, then doctors recommend at the stage of pregnancy planning and in the early stages of gestation to undergo a series of genetic studies:

Karyotyping of parents. Thanks to the study of the chromosome set of the future mother and father, it is possible to identify defective chromosomes that can lead to hereditary pathologies in the child.
Invasive methods of examination of the material of the fetus. Cordocentesis is the sampling and examination of the fetal blood, which makes it possible to detect chromosomal diseases with an accuracy of 100%. Amniotic puncture and sampling amniotic fluid also help detect genetic abnormalities. A chorionic biopsy is performed at a period of 10-12 weeks and consists in the removal of material from the chorionic villi.
Non-invasive methods of prenatal diagnosis. At the 9th week of pregnancy, venous blood is taken from the mother, in which particles of the chromosomal material of the fetus are isolated. They can be used to determine if a child has genetic abnormalities. This method is considered the safest, because it does not involve invasion.
postnatal diagnosis. Immediately after the birth of a baby with symptoms of TBS, doctors perform comprehensive examination. The child is being bled genetic analysis, do x-rays and ultrasound to identify pathologies of internal organs. During the first month of life, 42% of patients are diagnosed, 82% of a child with SBS is diagnosed before 1 year of age. The remaining 18% of cases can be diagnosed between the ages of 1 and 47 years.

Treatment tactics

Since the "cat's cry" disease is genetic disease, then it is impossible to eliminate its exact causes and cure. Treatment tactics are aimed at eliminating and minimizing symptoms.

child with early years rehabilitation classes are shown, with the help of which you can cope with the delay in physical and mental development. Usually they include physiotherapy, work with a defectologist, a psychologist, a speech therapist.

With heart valve defects, cleft palate, malformed auricles, eyelids, the baby undergoes operations aimed at correcting these consequences of the SBS. Throughout life, the patient should be observed by a general practitioner, cardiologist, neurologist, surgeon and psychotherapist.

Prognosis and possible complications

The disease does not affect life expectancy. With proper care, patients live to old age. The oldest known patient was 61 years old. Depending on the severity of a person's illness, it can be adapted to social life, improve psychomotor skills and speech, he can even get a profession. If the disease takes a severe form, then the patient will need a permanent guardian.

HSC does not affect fertility. Men and women can conceive a child who will be healthy. However, in 50% of cases, Lejeune's syndrome also occurs in children.

In 10% of cases, deviations are incompatible with life. Such children die in the first year after birth. The most common causes of death are heart defects, aspiration pneumonia, and respiratory stress. If the child is not properly cared for and medical care, its life expectancy rarely exceeds 10 years.

Are there measures to prevent the occurrence of Lejeune's syndrome in a child?

Since the causes that cause spontaneous mutations in chromosomes are unknown, then preventive measures, which would allow 100% to avoid the occurrence of pathology, does not exist. Minimize the risks of having a sick child will help healthy lifestyle life of parents, living in an environmentally friendly environment, a comprehensive examination before conception. Although such measures are an unproven way to prevent SBS, they will generally protect the unborn child from other ailments.

Before planning pregnancy for future parents who have relatives with genetic abnormalities or are at risk, you should donate blood for genetic analysis. Also, at the birth of a child with SBS, parents are required to undergo an examination. If one of them is a carrier of a structural rearrangement, then the second child is likely to be sick too. Since mutations in most cases are spontaneous, the probability of recurrence is less than 1%.

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 sites short shoulder 5th chromosome. With the development clinical picture cat 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 skin folds are observed.

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

Typically, the diagnosis is made by appearance 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. Apply surgical methods for the correction of heart defects. Sometimes it is necessary to carry out several operations. Given the general hypotension, patients with crying cat disease need exercise physical therapy and 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 we provide children with such a pathology the right treatment and adequate training, they will be able to learn to write and read, as well as perform simple tasks.

On a sunny June day, 2007, our long-awaited Nastenka was born.

was born ahead of time, with low weight. The baby was immediately taken to the intensive care unit and they told me: “Mom, you are to blame. You don't see the child is infected."

Now I know that children with our syndrome are often born prematurely and underweight, but then I was in a state of shock. None of the doctors, of course, paid attention to the obvious stigmas, to the characteristic crying, why, if you can blame the mother. And then, when we were at the Institute of Pediatrics, not a single specialist suspected precisely our syndrome, because. never seen these kids before.

For reference: Cat's cry syndrome (also known as chromosome 5 short arm deletion syndrome, 5p syndrome or Lejeune's syndrome) is a rare genetic disease associated with the absence of part of chromosome 5. Affected children with this disease (mostly, but not all) show crying, which is similar to a cat's cry, which is why this syndrome is called Cri-Du-Chat Syndrome, which comes from French words(cat's cry or cat's cry). The disease was first described by Jérôme Lejeune in 1963.

The incidence of the syndrome is 1 child per 50,000 births, occurs in all ethnic groups and women are more likely to suffer from it, the ratio of male and female is 4:3.

Signs and symptoms: As already noted, the syndrome gets its name from the characteristic crying of children (it is analogous to the cry of a cat) suffering from this disease. This cry is due to problems with the larynx and nervous system. About 1/3 of children lose this special feature up to 2 years. Other symptoms that indicate a disease with crying cat syndrome are: eating problems due to difficulty in swallowing and sucking; low weight a child at birth and low rates of development (primarily physical); a significant delay in the development of cognitive, speech and movement functions; behavioral problems such as: hyperactivity, aggression, tantrums and monotonous movements are constantly repeated; atypical facial features that may disappear or intensify over time; excessive, uncontrolled salivation; constipation.

Treatment is symptomatic. The means stimulating are shown psychomotor development, massotherapy and gymnastics.

At the consultation, they somehow cheerfully told me that it was the cat's scream syndrome. And they didn’t tell anything about him, I even thought that it was not serious, but fun, since it was so funny. And the geneticists simply had nothing to say, they themselves do not really know how such a child will develop. In the Filatov hospital, the geneticist asked the professor - have you seen our adult children yourself? He honestly answered that no, because. only very young children are brought to them for diagnostics, and then, when nothing needs to be diagnosed, such patients are no longer interesting. After all, nothing can be changed. So find useful information about development, and even more so a specialist dealing with our syndrome, turned out to be impossible. Grain by grain, I collected any information, looked for people with a similar problem, clutched at straws, knocked on many doors .... Gradually, the realization that no one needs us with our misfortune cooled my ardor. That's how we began to "stew in our own juice." Everywhere you have to beg for what is required, to prove that despite the fact that the child is not constantly in hospitals, he needs help. And here is the last milestone of our ordeal in an attempt to get treatment. In the rehabilitation center, we are not assigned some classes and specialists, who are apparently found for more promising children with cerebral palsy. It turns out that in order to receive rehabilitation for our rare disease, you must also have cerebral palsy.

There is no strength to fight the system, go around with bribes, chocolates, ask for something, demand. Every time to explain to the doctors what kind of syndrome we have.

And we live together, actively, cheerfully. When I don’t have to prove to anyone what a “miracle Yudo” my child is, I forget about everything. By the age of seven, having survived the most difficult, we almost stopped responding to her oddities, but we perceive her as she is. With your needs.

Nastya is a lazy person, she is a Cancer by her zodiac sign and, like a small crustacean, crawls out of the shell only if something interesting is going on around her. If not, it withdraws into itself and it is difficult to extract it from this state. Does not want to do routine work. But still, we managed to learn how to walk, eat on our own, do without a diaper and, most importantly, realize that you can express your desires in words, that you don’t have to bang your head and vocalize loudly for this! These are our big wins! Even if we don't have much to say. Sometimes, on a bright event in her life, she immediately pronounces and remembers new ones, even Difficult words. But such simple things as drinking and eating will not say a word. If her felt boots fall off in the cold, she will go on like this until someone notices. And if the little sister loses her shoe, notices, runs, brings the very first. Here she is our Nastya.

He loves programs about animals, he brings everything he sees to life. Treats dogs, catches snakes, trains lions. He likes to "read" books, only this can keep him in place and save the house from destruction. We don’t have much motor skills, so even with her low weight and fragility, she’s like an “elephant in a china shop”. By the noise of falling things, you can always determine where Nastasya is at the moment.

About sad. She doesn't feel special. She wants to communicate with other children, but they reject her. Even the children of close friends sometimes laugh at her. A younger brother(5 years old) and sister (1.5 years old) consider themselves older.

Difficult in in public places. Because instead of speaking, she sometimes vocalizes loudly. Places such as theatres, museums and similar places where they love silence are not yet available to us.

And if we talk about the treatment that we need, it is! It's called emotions. Without them, the child goes deeper and deeper into himself. She cannot give them to herself, she does not know how. She needs people with whom she can communicate, who will perceive her as a Human, and not a curiosity. trips to Beautiful places. Communication with horses, dogs, dolphins. It can be compared to life's dialysis or medicine! Without this, it immediately rolls back and there is no progress. But alas, such treatment is too expensive for our family. We try to cope on our own, we travel a lot, invite guests, go shopping… but I understand that in our country we don’t yet have such rehabilitation and socialization opportunities as, for example, children with cat cry syndrome in Germany or America. Where they do not turn away from such children, as they turned away from us.

The crying cat syndrome is a rare genetic disease caused by partial or complete loss of a fragment of the arm of chromosome 5 (5p-). For the first time this pathology was described in 1963 by Jerome Lejeune, a French pediatrician and geneticist, therefore this disease is also called Lejeune's syndrome. The incidence of the disease is 1/40-50 thousand newborns, girls are more susceptible to this disease than boys. Babies with a chromosomal mutation are characterized by crying (due to the underdevelopment of the larynx) resembling the cry or mewing of a cat, which was the reason for the figurative name of the pathology.

Causes of the cat's cry syndrome

The reason for the development of Lejeune's syndrome is the absence of 1/3-1/2 to full length arm segment of the fifth chromosome. The deletion is caused in 10% of cases by genetic heredity, a consequence of an unbalanced translocation carried by parents and in 90% by random mutations. Unfavorable factors that have a negative and damaging effect on the germ cells and the further formation of the zygote can provoke the occurrence of a chromosome defect. Let's name the main causes of cat's cry syndrome:

Heredity. A chromosomal mutation can be detected both in parents and in other family members;
Adverse effects of the external environment, increased radioactive background;
Drugs. They are characterized by a destructive effect on the body and damage to the genetic apparatus of cells;
smoking and alcohol addiction. Render bad influence on the cells of all organs, this is especially evident in relation to germ cells and the embryo during pregnancy;
Medicines and potent chemicals used by the mother in the first trimester of pregnancy.

You should also take into account the high probability of having a child with feline cry syndrome in families where there are already children with this chromosomal disease.

Signs of crying cat syndrome

Signs of feline crying syndrome include:

Small weight of the newborn (up to 2.5 kg) during full-term pregnancy without deviations;
Crying of a child, similar to the mewing of a cat (due to the narrow lumen of the larynx and thin soft cartilage);
Round moon-shaped face;
Hypertelorism (too much distance between the eyes or other paired parts of the body);
Epicant (fold at the inner corner of the eye);
Anti-Mongoloid incision of the eyes;
Microcephaly (insufficient size of the skull and brain);
Microgenia (underdeveloped lower jaw);
Short neck with pterygoid skin folds;
Nose with a flattened back.

Sometimes there is a high palate and a splitting of the upper lip.

Associated diseases

Children with this pathology often have the following congenital diseases: heart defects, umbilical and inguinal hernia, clubfoot, hip dislocations, flat feet, diseases of the genitourinary and digestive system(hydronephrosis, intestinal obstruction, etc.), eye diseases (cataract, strabismus). In babies with cat's cry syndrome, there is a violation of the process of swallowing and sucking, muscle hypotension, and suppression of reflexes. With age, the manifestations of individual signs change - crying similar to the cry of a cat disappears (in the second year of life in almost a third of children), round face and muscle hypotonia, but strabismus, microcephaly are more clearly detected, and the lack of psychomotor development is enhanced. Children are far behind in mental and physical development, they are characterized by hyperactivity, a tendency to tantrums and aggressiveness.

Diagnosis of the disease

If there are cases of chromosomal abnormalities in family members, genetic counseling and testing should be carried out during the pregnancy planning period. With the onset of pregnancy, Lejeune's syndrome in the fetus can be detected during the passage ultrasound, an invasive procedure is recommended to establish a definitive diagnosis. prenatal diagnosis. After the birth of a child, the diagnosis of crying cat syndrome is made on the basis of the observed signs of inherent pathology, and a cytogenetic study is required to confirm the diagnosis. Since a chromosomal mutation can be accompanied by a number of different defects, a newborn in without fail an examination by specialists is necessary - a cardiologist, urologist, ophthalmologist, orthopedist and others.

Treatment of the syndrome of a cat's cry

Currently, there is no specific therapy for Lejeune's syndrome, the pathology is incurable. All therapeutic actions have as their goal the elimination or weakening of the manifestations of congenital diseases of the internal organs associated with the syndrome. It is these defects, and not a genetic defect, that cause the death of patients in the first years of life, and only about 10% of them reach adolescence. At the same time, there are data on isolated cases of reaching the age of 50 and 60 years in patients with this chromosomal pathology. Treatment of the cat's cry syndrome is symptomatic, often requiring surgical correction of heart defects, monitoring by a cardiac surgeon, consultations with a nephrologist and urologist in case of damage to the urinary system. To maintain the vital functions of the patient and psychomotor development, regular courses of massage procedures are carried out, drug therapy, physiotherapy, exercise therapy. Children with Lejeune's syndrome need classes with defectologists, speech therapists, psychologists, constant supervision of a neurologist and a physiotherapist.

Long-term prognosis of experts in the syndrome of a cat's cry is not favorable. It should be remembered that the duration and quality of life of the patient primarily depends on the size of the deletion, the severity birth defects, qualified medical care, as well as the professional level of psychologists and teachers involved with the child.

Franz. pediatrician and geneticist, b. in 1926; syn. crying cat syndrome) - a congenital complex of malformations caused by a violation of the structure of one of the chromosomes of group B. Described in 1963 by J. Lejeune et al. The frequency of the syndrome among newborns is about 1: 3000, boys and girls are equally often affected. The syndrome is based on changes in the short arm of the chromosome of the 5th pair (Fig. 1), which occur more often as a result of a deletion (see), less often - a balanced translocation (see). With the divergence of chromosomes into different cells in the first division of meiosis (see), the chromosome that has lost part of the genetic material is unbalanced. The literature also describes other variants of balanced translocations in the cells of parents, which led to the birth of children with L. s.

Nek-paradise variability a wedge, manifestations of a syndrome, apparently, depends on the sizes of a missing site of a chromosome. Children with L. s. are usually born with a low birth weight (up to 2500 g) even at term. The most constant symptom, from which the syndrome got its name, is a specific timbre of the voice, reminiscent of a cat's meow. This symptom is due to the peculiarities of the structure of the larynx, determined laryngoscopy - a small flaccid epiglottis, which tends to fall above the glottis; the vocal folds themselves are not changed. Radiographically, there is a decrease in the air space above the vocal folds. With age, the voice timbre normalizes, but stridor often remains (see) and a tendency to inf. diseases of the upper respiratory tract. IN early age a round moon-shaped face is characteristic, an oblique section of the eyes with lowered outer corners, epicanthus (a crease at the inner corner of the eye), hypertelorism (widely spaced palpebral fissures), somewhat flattened neue, low-lying auricles, in front of which there are often small (1-3 mm in size) round fibrous nodules (Fig. 2). The brain skull is relatively small (microcephaly), dolichocephalic or with protruding frontal tubercles. Usually external features are complemented by a small lower jaw and short neck with excess skin forming pterygoid folds. In some cases, there may be a splitting of the lip (see Lips) or palate (see), or a high gothic palate and splitting of the tongue. Possible ophthalmol, violations - transient or permanent strabismus (see), astigmatism of the eye (see). Of the anomalies in the development of internal organs, the most common malformations of the heart and blood vessels, kidneys. Boys often have hypospadias (see). Describe four-fingered or short, triangular shape middle phalanx of the fifth finger. General muscular hypotonia, characteristic of newborns with HP, usually persists for a year or longer. Patients lag behind in psychomotor and physical. development. Biochem, disturbances at L. page. nonspecific: long-term preservation of fetal hemoglobin, a nek-swarm decrease in the content of albumin in blood serum, moderate aminoacidemia and aminoaciduria. On both palms, in most cases, a transverse furrow is determined, the distal triradius is absent or its axis is in position t (see Dermatoglyphics).

The average life expectancy of patients is reduced. Patients die due to cardiac or kidney failure, from intercurrent inf. diseases.

Syndrome follows differentiate with others congenital anomalies development of chromosomal and non-chromosomal etiology. The diagnosis is confirmed by a karyological study using one of the methods for identifying group B chromosomes (autoradiography, fluorescent dyes, etc.).

Treatment symptomatic. Means stimulating psychomotor development, massage, gymnastics are shown.

Prevention the birth of children with L. page. is based on determining the karyotype of parents who had a sick child. The presence of a balanced translocation in one of them or mosaicism in deletion (5p - / 5p) is an absolute indication for antenatal determination of the karyotype of the fetus in subsequent pregnancies by amniocentesis (see) and the study of amniotic cells. A balanced translocation in one of the parents also requires a study of the karyotype in his blood relatives in order to identify individuals with trans location.

Bibliography: Mladkovskaya T. B., Lebedev B. V. and Mazaeva I. V. Syndrome of "cat's cry" (Cri du chat), Genetics, vol. 6, no. 10, p. 125, 1970, bibliogr.; L e j e-u n e J. e. a. Trois cas de deletion partielle du bras court d'un chromosome 5, C. R. Acad. sci. (Paris), t. 257, p. 3098, 1963; Pfeiffer R. A. Karyotyp und Phanotyp der autosomalen Chromosomen-aberrationsen beirn Menschen, Stuttgart, 1968; Valentine G. H. The chromosome disorders, Philadelphia, 1969.

L. O. Badalyan.