the story of a rare girl with bedridden syndrome. Cat scream. the story of a rare girl with Léjön's syndrome Feline cry syndrome type of inheritance

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

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

Now I know that babies 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 stigma, to the characteristic cry, why, if you can blame the mother. And then, when we were at the Institute of Pediatrics, not a single specialist suspected exactly our syndrome, because have not seen such children before.

For your information: Cries of a cat syndrome (also known by the names: short arm deletion syndrome of chromosome 5, 5p syndrome or Lejeune syndrome) is a rare genetic disease associated with the absence of part of chromosome 5. Sick children with this disease (mainly, but it cannot be said that all) cry, which is similar to a cat's cry, which is why this syndrome is called Cri-Du-Chat Syndrome, which comes from the French words (crying of a cat or cry of a cat ). The disease was first described by Jerome Lejeune in 1963.

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

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

Treatment is symptomatic. Shown are funds that stimulate psychomotor development, therapeutic massage and gymnastics.

At the consultation, I was somehow cheerfully told that it was a cat scream syndrome. And they did not 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 would develop. In the Filatov hospital, the geneticist asked the professor - have you seen our adult children yourself? He answered honestly that no, because only babies are brought to them for diagnosis, and then, when there is no need to diagnose anything, such patients are no longer interesting. After all, nothing can be changed. So it turned out to be impossible to find useful information about development, let alone a specialist dealing with our syndrome. Bit by bit, I collected at least some information, looked for people with a similar problem, grabbed at straws, knocked on many doors .... Gradually, the realization that no one needed us with our misfortune cooled my ardor. This is how we began to "stew in our own juice." Everywhere you have to beg for what is supposed to be, 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 trying to get treatment. In the rehabilitation center, we are not assigned some classes and specialists who are found, apparently 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 doctors what kind of syndrome we have.

And we live together, actively, cheerfully. When I don’t need to prove to anyone what a “miracle-yudo” my child is, I forget about everything. By the age of seven, having gone through the most difficult, they have almost ceased to react to her oddities, and we perceive her as she is. With your needs.

Nastena is a lazy woman, she is cancer according to the zodiac sign and, like a small crustacean, crawls out of a shell only if something interesting is going on around. If not, it withdraws into itself and it is difficult to extract it from this state. Doesn't 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 for this you don't have to bang your head and vocalize loudly! These are our huge victories! Although we have almost no speech. Sometimes, on a bright event in her life, she immediately pronounces and remembers new, even complex words. But she won't say anything as simple as eating and drinking. If her boots fall in the cold, it will go on until someone notices. And if the little sister loses her shoe, she notices, runs, brings the very first one. This is how she is our Nastya.

He loves programs about animals, transfers everything he sees to life. Heals dogs, catches snakes, trains lions. Likes to "read" books, only this can keep him in place and save the house from destruction. Our motor skills are not very good, therefore, even with its low weight and fragility, it is 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 things. She does not feel herself special. She wants to communicate with other children, but they reject her. Even the children of close friends sometimes laugh at her. And the younger brother (5 years old) and sister (1.5 years old) consider themselves older.

Difficult in public. Because instead of speech, she sometimes vocalizes loudly. Places such as theaters, museums and the like, where they love silence, are not yet available to us.

And if we talk about the treatment that we need, it is there! Emotions are called. 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 wonder. Trips to beautiful places. Communication with horses, dogs, dolphins. It can be compared to life 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 do not yet have such opportunities for rehabilitation and socialization, as, for example, children with crying cat syndrome in Germany or America. Where they do not turn away from such children, as they turned away from us.

Population frequency unknown.

Patient karyotype 46, XX, del 5 (p 1.2); 46, XX, 5p-.

An unusual cry, reminiscent of a cat's meow, as a result of underdevelopment of the cartilage of the epiglottis;

Common signs: low birth weight, mental retardation;

Craniofacial dysmorphias: microcephaly, lunar face, hypertelorism, antimongoloid eye incision, micrognathia, low-lying auricles with deformation, skin folds in front of the ears;

Chest: rarely congenital heart defects;

Abdominal and pelvic organs: inguinal hernia, divergence of the rectus abdominis muscles;

Hands and feet: short metacarpal and metatarsal bones, partial syndactyly, flat feet, monkey fold.

Life span- in the absence of heart disease, normal.

Children with crying cat syndrome are often found in the group of undifferentiated oligophrenia.

Chromosomal diseases caused by abnormalities of the sex chromosomes.

1.5.11 Klinefelter's syndrome

Frequency - 1: 1000 newborn boys.

Karyotype 47, XXY, rare options: 48, XXXY; 49, XXXXY; mosaicism is possible 46, ХУ / 47, ХХУ.

Phenotypic characteristics:

Clinical manifestation in the pre- and pubertal period. There is no increase in the testes, and in some there is a tendency to their decrease and compaction, microorchidism is formed. Histologically proven violation of spermatogenesis in the form of azoospermia. The size of the penis is normal or somewhat reduced. Are sterile. The potency is reduced.

Decreased intelligence - IQ from 85% to 50%. Features of the psyche: a decrease in the emotional-volitional sphere, suggestible, restless, influenced, conflicted, there is no quick reaction (take into account during career guidance). In this regard, it is important to actively identify such patients before entering school, to conduct individually jointly with a doctor, teacher, psychologist. In the absence of this, a tendency towards antisocial behavior is noted.

High growth;

The predominance of the lower segment of the body over the upper :, long legs, the width of the pelvis is greater than the width of the shoulders;

Gynecomastia, in some patients true due to the development of breast tissue, there may be tumors;

On the face and body, hair is scarce, on the pubis it is developed according to the female type.

Brachycephaly, low hair growth at the back of the head, clinodactyly 5, scoliosis.

Calculation of genetic risk: The risk for siblings in sporadic cases (with normal karyotype of the parents) does not exceed the population risk.

1.5.12. Shereshevsky-Turner syndrome

Frequency: 1: 10,000 newborn girls.

Karyotype: 45, XO, rare forms of mosaicism 45, XO / 46, XX; 45, XO / 47, XXX; 45, XO / 47, HUU and others.

Phenotypic characteristics:

General signs: short trunk, primary amenorrhea, sexual infantilism, infertility, primary hypertension;

Intelligence is either normal or slightly reduced, more often due to the non-verbal component, professions related to handicrafts are not recommended. There are peculiarities of the psyche: active, contact, love children - good kindergarten teachers.

Craniofacial dysmorphias: antimongoloid eye incision, hypertelorism, high palate, hearing impairment, micrognathia, short neck, pterygium, low hairline at the back of the head. During the neonatal period, excess skin on the neck, intrauterine - lymphoid edema of the neck.

Chest: wide, nipple hypertelorism, there may be abnormalities of the heart and blood vessels (coartation, aortic stenosis, VSD);

Doubling of the kidneys, ureters;

Extremities: during the neonatal period, swelling of the hands and feet, convex hypoplastic nail plates, cubitus valgus, short metacarpal and metatarsal parts.

Dermatoglyphics: distal axial triradius, transverse fold of the palm.

Calculation of genetic risk: the risk for siblings in sporadic cases (with normal karyotype of the parents) does not exceed the population risk).

Content

Chromosomal disorders are not treated, and the child receives the status of a disabled person from birth. With some diseases, he can cope and lead a full-fledged lifestyle, and with others, he turns into an eternal child, needs round-the-clock care. Cat crying syndrome is accompanied by defects in the fifth chromosome and external changes in the facial part of the skull.

What is cat cry syndrome

In official medicine, the characteristic ailment is called Lejeune's syndrome, and it differs from Down's syndrome by the presence of a complete chromosomal series, but structural abnormalities of chromosome 5. Cat cry syndrome is a genetic disorder that doctors diagnose from the first day of a newborn's life. Girls get sick more often, but with proper and timely treatment, they live to adulthood. The full value of physical capabilities and intellectual abilities is completely excluded. Children with cri du chat syndrome are still being studied by modern doctors.

Cat cry syndrome - karyotype

In the photo, sick children look like cats, and their crying is fully consistent with this pet. Karyotype 46, XX determines the analysis for carrying out karyotyping, which is passed by the biological parents of the fetus. Cat's eye disease can progress even in the absence of abnormalities in the karyotype. The diagnosis is not fully understood by clinical methods.

Causes

It is problematic to identify the etiology of the pathological process, since no social, climatic, ethnic, production patterns have been found. There is a genetic factor when karyotype pathologies are observed in the parents. Otherwise, the putative causes of crying syndrome are associated with the deletion of the fifth chromosome, which takes on a circular shape. The prerequisites for influencing the germ cells and zygote division can be as follows:

• genetic factor;
• taking illegal medications during pregnancy;
• carrying out an operation while carrying a fetus;
• bad habits in the life of a future mom;
• the harmful effects of radiation;
• unfavorable social factor;
• lack of pregnancy management by doctors.

Cat cry syndrome - signs

The patient is born with insufficient body weight, and his internal organs and systems are not fully formed. Externally, you can see an enlarged skull, antimongoloid eye section. An internal symptom is congenital cataract, strabismus, optic atrophy or myopia. In addition, a baby is born with deformation of the auricles and a short neck, suffers from decreased reflexes, clubfoot from the first year of life. Other signs of crying feline syndrome are detailed below:

• mental retardation (imbecility);
• gothic palate;
• muscle hypotension;
• swallowing disorder;
• violation of sucking;
• splitting of the uvula;
• flat nasal bridge;
• flat feet;
• underdevelopment of speech;
• cleft palate;
• neck with pterygoid folds;
• syndactyly of the feet;
• idiocy;
• cyanosis as a symptom of hypoxemia;
• microgeny;
• hypertelorism;
• microcephaly;
• epicant;
• inspiratory stridor (inheritance of noisy breathing);
• clinodactyly (finger defects);
• monosomy.

In any case, a distinctive feature of a patient with such a well-known, but extremely rare disease of a child is a moon-shaped face, a specific baby crying, an antimongoloid eye shape. Cat cry disease is characterized by insufficient brain and physical activity, and photos of children can even shock a healthy person.

Diagnostics

To describe the diagnosis in detail, doctors recommend a complete clinical examination, both invasive and non-invasive. Outwardly, it is clear that the small patient looks like a cat, but the presence of a moon-shaped face is not the only sign of a characteristic ailment. Detailed diagnostics of the syndrome of a cat cry includes the following measures in a hospital setting:

• collection of anamnesis data;
• analysis for carrying out karyotyping when planning pregnancy;
• blood chemistry;
• chorionic biopsy;
• amniocentesis;
• non-invasive prenatal test;
• cordocentesis.

Cat cry syndrome - treatment

If a newborn is characterized by an anti-Mongoloid eye shape and a cat's moon-shaped face, the first step is to clarify the ratio of the genotype and phenotype, to determine the shoulder of the chromosome (fifth). Treatment of the syndrome of a cat cry is lifelong, includes the following measures:

1. Visiting psychologists, psychiatrists, speech therapists for partial restoration of the speech ability of a little patient;
2. Correction of concomitant diseases, for example, with congenital heart defects.
3. Massage courses, exercise therapy, physiotherapy for partial restoration of physical activity of a little patient.
4. A visit to a defectologist to develop and restore some of the reflexes inherent in healthy people.
5. Drug therapy on the recommendation of the attending physician. In the photo, the appearance of the patients is frightening, they rarely live up to the age of 18-30 years.

Video

Attention! The information presented in the article is for informational purposes only. The materials of the article do not call for self-treatment. Only a qualified doctor can diagnose and give recommendations for treatment based on the individual characteristics of a particular patient.

Feline cry syndrome (sometimes also called Lejeune syndrome) is a rare hereditary disorder in which a baby cries that sounds like a cat's meow. The syndrome is considered a chromosomal pathology, since it occurs due to the lack of a child's part of the genetic information located in the p-arm of chromosome No. 5. This disease is diagnosed in about 1 out of 45-50 thousand newborns. The syndrome develops more often in girls - in a ratio of about 4k3.

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ICD-10 code

Q93.4 Deletion of short arm of chromosome 5

Causes of the scream syndrome

The source of the mutation, due to which Lejeune syndrome occurs, can be a variety of factors that negatively affect the reproductive organs of the parents or the fertilized egg, which is in the process of cleavage with the subsequent formation of a zygote. Among the main causes of mutation:

• Heredity. If there is a child in the family with this pathology, the likelihood that the second baby will be born with the same diagnosis is high;
• Alcoholic drinks. They are very harmful to the health of the embryo and the mother's germ cells;
• Smoking;
• Drugs. They have a destructive effect on the entire genetic apparatus;
• Being under the influence of ionizing radiation;
• Medicines or chemicals with a powerful effect that a pregnant woman took in the 1st trimester.

Type of mutation in cats cry syndrome

Genetically, this syndrome is explained by partial monosomy. Its occurrence is associated with chromosomal rearrangement, during which from 1/3 to half of the p-arm of chromosome No. 5 is lost, which contains about 6% of all genetic material. The clinical picture of the disease is influenced not by the size of the missing part, but by which fragment was lost.

Symptoms of the crying syndrome

Among the main symptoms of the cat cry syndrome:

• The specific sound of the patient's cry, similar to a cat's meow. This symptom is due to the fact that in a sick baby, the larynx has some features - with thin cartilage, underdeveloped and rather narrow. In about a third of all children, this feature disappears before 2 years of age, and in the rest it persists throughout their lives;

• A full-term baby has a low birth weight (less than 2.5 kg);
• Problems with swallowing and sucking function;
• Profuse salivation is observed;
• The face has a moon-shaped rounded shape (this sign may disappear with age);
• Widely set slanting eyes, their outer corners go down, and near the inner ones there is an epicanthus (a small fold);
• The bridge of the nose is flat and the nose is wide;
• Ears drooping low;
• The skull and brain are small, with strongly protruding frontal protuberances. This symptom becomes more pronounced with age;
• Small lower jaw;
• Short neck with folds of skin;
• Retardation in the mental development of the child, physical and speech skills also develop with a delay;
• The behavior has some peculiarities - hyperactivity, unmotivated aggression, repetitive movements, hysteria are observed;
• Frequent constipation
• Reduced muscle tone of the patient's body;
• Heart defects (violation in the structure of the septa (interventricular or interatrial), blue heart disease).

Forms

There are several types of mutations that affect the development of the disease:

• The short shoulder is completely absent - this is the most common variant of the development of the syndrome (and the most severe). When there is a complete loss of the shoulder, about ¼ of all the genetic information that is on chromosome 5 disappears. In addition to the genes themselves, some important parts of the genetic material also disappear, due to which the anomalies that arise in the body become larger and they are of a more serious nature.
• A shortening is observed - in this case, only some part of the genetic material, which was closer to the final part of the chromosome, disappears. If this is accompanied by a rearrangement of chromosomes in the area where the key genes for development are located, Lejeune syndrome develops. With this option, there will be fewer defects in the development of the child, because less genetic material has disappeared.
• Mosaicism is a mild form of the syndrome that is quite rare. A child receives a defect DNA from one of his parents. With this type of mutation, the genome in the zygote was at first correct, chromosome 5 was full - the violation occurred already during the development of the fetus itself. In the process of chromosome separation, the p-arm disappeared without passing through division between daughter cells. Therefore, some part of the body's cells receives a defective genome. With this form of the syndrome, pathological changes will be insignificant, because the division of normal cells to some extent compensates for the defectiveness of the rest. Therefore, such children usually do not have severe congenital anomalies or any delays in physical development, but mental abnormalities may still be present.

• Ring shape - two arms (short and long) of one chromosome are linked together, which makes the chromosome look like a ring. In this case, a rearrangement of chromosomes occurs in a small terminal area. The syndrome manifests itself with any symptoms if key genes disappear.

Complications and consequences

With Lejeune's syndrome, the patient dies not from the disease itself, but from complications - renal or heart failure, various infections.

Diagnostics of the syndrome of a cat cry

It is possible to preliminarily diagnose the disease by the appearance of the baby and his specific cry. To clarify the diagnosis, a cytogenetic analysis is performed, and a set of chromosomes is also studied. A similar examination can be carried out even in parents planning to conceive - in cases where chromosomal diseases have previously been observed in the family.

Analyzes

To diagnose the disease, urine and blood are taken from the newborn for general and biochemical analysis. In this case, the characteristic of the disease will be such signs as a decrease in blood levels of albumin, as well as embryonic hemoglobin that persists for a long time.

Differential diagnosis

The cat cry syndrome must be differentiated from other chromosomal pathologies that have similar symptoms - these are Patau, Down or Edwards syndromes.

The syndrome of the cat's cry or, as it is also called, Lejeune 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 disease of the cat's cry, the greatest value is not the size of the lost area, but a certain fragment of the chromosome. Sometimes deletion mosaicism occurs, or circular chromosome-5 is observed.

Causes

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

The main causes of crying syndrome are as follows:

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

Symptoms

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

• crying of a child, typical for this disease, which is similar to the meow 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 birth weight (up to 2500 g);
• moon-shaped face;
• a short neck with skin folds.

Also, people with Lejeune syndrome have heart defects that are congenital. Microcephaly, alteration of the auricles, ptosis, (a large distance between some paired organs) are common. A person with crying syndrome (Lejeune syndrome) has low ears with folds of skin in front of them. In addition, among the signs of the disease, epicanthus is observed (a transverse fold of the skin, which is located near the corner of the eye on the inside). This feature is strongly expressed in Down syndrome.

Diagnostics

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

When diagnosing the syndrome of a cat cry, the following methods are used:

1. Collecting anamnesis.
2. Carrying out karyotyping of parents.
3. Ultrasound examination.
4. Blood sampling for plasma markers.
5. Invasive examinations (cordocentasis, amniocentasis, chorionic biopsy).
6. Diagnosis at the postpartum stage.

Treatment

Patients with this disease are prescribed symptomatic treatment. Surgical methods are used to correct heart defects. Sometimes it is necessary to carry out several operations. Given the general hypotonia, patients with crying disease need exercise therapy, as well as regular massage. Among the drugs that 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 speech therapist, etc.

Forecast

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

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