Syndrome of a cat's cry in children24.05.2022
The cat’s cry syndrome (Lejeune’s syndrome) is a genetic disease characterized by the occurrence of anomalies in the development of tissues and organs. Lejeune’s syndrome occurs in one newborn out of 50-60 thousand. As a rule, the disease is more often detected in girls. The prognosis for pathology is unfavorable. Patients can survive to adulthood, but their intellectual and mental development is not age appropriate.
The disease refers to chromosomal pathologies. This means that there are deviations in the structure of chromosomes in the genome. The syndrome is detected in patients with changes in the short arm of the fifth chromosome. The following types of anomalies in its structure are possible:
- loss of a part of the short arm, on which there are genes important for the development of tissues and internal organs;
- complete loss of the short arm on chromosome 5. This type of changes occurs most often and is characterized by a severe course in children;
- fusion of the short and long arms to form a ring chromosome. With the loss of part of the genes, symptoms of the disease are formed;
- mosaic variant – there are separate mutations in the genes responsible for the development of tissues. Pathology has a favorable prognosis for the patient.
Chromosomal mutations occur as a result of adverse factors affecting the body of a developing fetus or mother:
- acute infectious diseases during pregnancy – cytomegalovirus, herpetic infection, etc.;
- the use of drugs that adversely affect the intrauterine development of the child. These include narcotic drugs, etc.;
- use of alcohol and tobacco by a pregnant woman;
- mother’s age is over 40-45 years. The number of mutations and changes in the egg genome increases during life;
- adverse environmental impact: air pollution, water pollution, radiation, etc.
These factors are characteristic not only for cat’s cry syndrome . They underlie the development of any genetic diseases – Patau syndrome, glycogenoses, etc.
Symptoms in newborns
To identify Lejeune’s syndrome, doctors identify a number of characteristic clinical signs: specific crying, an altered shape of the head, eyes and auricles, underweight, clubfoot and developmental defects of the fingers on the hands. If these symptoms are detected, specialists refer the child and parents for a consultation with a geneticist.
In the early days, parents may pay attention to a specific cry, characterized by a high tone. Parents compare it to the meowing of a kitten. The reason for such crying is anomalies in the development of the cartilage of the larynx – their softening and reduction in size. A cat’s cry is often the reason for the primary visit of parents to a doctor for Lejeune’s syndrome.
The second most common sign is a change in the shape of the head. Most children have microcephaly, characterized by a decrease in the head and its elongation upwards. Craniometry with the measurement of the transverse and longitudinal dimensions of the head helps to confirm the symptom. Microcephaly does not allow the normal development of the brain, which leads to mental retardation.
The disease is characterized by a change in the shape of the eyes. It also occurs due to deformation of the bones of the skull. A similar picture is observed in Down syndrome. The eyes have the following features:
- divergent or convergent strabismus. Possible deviation of the visual axes downward or upward;
- the location of the palpebral fissures at an angle – anti-Mongoloid incision of the eyes;
- presence of epicanthus. It is a small skin fold at the inner corner of the eye;
- increased distance between the eyeballs.
In children with pathology, an abnormal location of the auricles is noted. They are located low and have a modified shape. More often, a decrease in the size of the outer ear and the appearance of dense nodules in its area are detected. A characteristic symptom of the disease is defects in the fingers and toes. Perhaps their fusion or curvature in the interphalangeal joints.
With Lejean’s syndrome, body weight is lower than in healthy newborns. This is due to a slowdown in the development of internal organs and the brain. The child is full-term, but its weight does not exceed 2500 g. If the fetus was born prematurely, then the body weight is even lower.
These symptoms are detected immediately after birth by a doctor or by the parents themselves. They allow you to suspect the diagnosis and prescribe additional methods of examination.
Manifestations in children
The cat’s cry syndrome has an unfavorable prognosis – patients grow and develop, which leads to a change in individual symptoms and the appearance of new signs of pathology. About 4% of children survive to the age of 20-23 years. The syndrome is characterized by the following manifestations in older age:
- mental retardation associated with impaired brain development. The child cannot identify himself for a long time and experiences difficulties in mastering motor and intellectual skills. Patients can be trained at home or in specialized institutions where trained personnel help children learn basic skills;
- decreased muscle tone with impaired reflexes and motor activity. Additionally, impaired coordination of movements is detected. Symptoms arise as a result of anomalies in the development of the structures of the central nervous system;
- a moon-shaped face, resulting from the predominance of the size of the facial skeleton over the brain region of the skull;
- areas of narrowing in the intestine and its altered work lead to the development of constipation;
- in the first years of life there are problems with vision. Children need glasses for everyday activities.
With age, disturbances in the functioning of internal organs come to the fore: the cardiovascular, respiratory and digestive systems. Heart rhythm disturbances, ischemic myocardial damage, frequent infectious diseases, etc. are possible. Despite growing up, the intellectual development of a sick child remains at the level of preschool age.
Diagnosis of the disease is carried out by a pediatrician together with a geneticist. The examination is carried out according to the following algorithm:
- Diagnosis begins at the stage of pregnancy planning. Specialists find out if future parents have genetic anomalies, as well as cases of the birth of children with developmental pathologies in the past. In addition, it is important to identify risk factors (smoking, drug addiction, harmful working conditions) to eliminate them.
- If factors that increase the risk of having children with a developmental anomaly are identified, a karyotyping of a married couple is carried out. Karyotyping is a quantitative and qualitative analysis of the chromosome set in parents. Such a study makes it possible to identify other pathologies in which the karyotype changes.
- Ultrasound of the fetus during pregnancy. There are no specific signs of the disease, however, specialists can identify changes characteristic of pathologies: polyhydramnios or oligohydramnios, obstruction of intestinal loops, changes in the skull, etc.
- Determination of blood levels of alpha-fetoprotein, protein A and human chorionic gonadotropin is used to screen for chromosomal diseases.
- It is possible to carry out invasive diagnostic methods: cordocentesis (taking a blood test from the umbilical cord of the fetus), chorionic biopsy or amniocentesis (taking amniotic fluid). All procedures involve obtaining fetal material to determine its karyotype. In this case, with one hundred percent probability, various variants of chromosomal diseases are detected.
After the birth of a child, if a pathology is suspected, consultations with a geneticist, an echocardiogram, an ultrasound examination of the abdominal organs and general laboratory studies are carried out. The methods are aimed at identifying specific anomalies in the development of internal organs and selecting their treatment.
Prognosis and treatment approaches
Treatment of pathology is aimed at correcting existing defects in the development of internal organs. The mutation in the chromosome set cannot be corrected, so the disease is incurable. The prognosis is relatively unfavorable, since more than 90% of children do not live to be 12-13 years old. In rare cases, the patient grows up and can live up to 50 years, but such cases are rare.
The duration and quality of life depends on a number of conditions:
- timeliness of surgical interventions, if necessary;
- the severity of anomalies in the structure of internal organs and the nervous system;
- mosaic or complete nature of changes in the chromosome;
- availability of medical care and the correctness of individual lessons with the child.
Full-fledged patient care costs a lot. To help parents, there are special funds that pay for medical care and consultations with specialists. Despite treatment, mortality remains high as cardiovascular and respiratory disorders progress.
Lejeune’s syndrome refers to chromosomal pathologies that are characterized by changes in the genome. They differ from diseases associated with a violation of the structure of specific genes (phenylketonuria, lipidosis, etc.). Identification of the syndrome occurs at the stage of prenatal screening or immediately after birth. It is manifested by microcephaly, anomalies in the development of the facial skeleton, auricles, and deformation of the fingers and toes. Recovery is impossible, since the cause of the violations cannot be eliminated. The therapy is supportive and consists in eliminating the identified malformations of the internal organs.
See also: marfan syndrome