Contents
crying cat syndrome is a genetic disorder in which there is a deletion (loss of part of the chromosomal material) of a part of the short arm of chromosome 5. Possible complete loss of the shoulder, or the loss of half or 1/3 of it. The name of the syndrome was given by the fact that the crying of sick children resembles the meowing of a cat, however, this is not the only developmental anomaly in this pathology. The cat’s cry syndrome is also called Lejeune’s syndrome, after the pediatrician who first described this disease in 1963.
Pathology is quite rare, so out of 45-50 thousand newborns with this syndrome, only one child will be born. At the same time, girls suffer more often than boys in a ratio of 4:3.
Symptoms of the cat’s cry syndrome
The symptoms of feline cry syndrome are as follows:
For children in the neonatal period, a slight prenatal malnutrition is characteristic with an average body weight of 2 kg 500 gr. At the same time, such children appear most often on time.
The threat of miscarriage during pregnancy is rare, no more than ordinary women.
The earliest sign of the syndrome is the crying of a baby, which sounds like a meowing cat. Such a piercing sound is explained by the peculiarities of the structure of his larynx. Its lumen is too narrow, and the epiglottis is small, while the cartilage is soft, and the mucous membrane is covered with folds. Although some scientists point out that the crying of a child like a cat’s cry has a central genesis and does not occur as a result of an anatomical disorder of the larynx. Perhaps the disappearance of this symptom by 2 years, which occurs in 1/3 of children. The rest of the patients with a cat’s cry live forever.
As for appearance, in such people the front part of the skull is advanced above the brain, the face itself has a moon-shaped shape. The distance between the eyes is increased, their section is anti-Mongoloid with a typical Mongolian fold (epicanthus). The auricles are deformed, the back of the nose is flattened, the neck is short and covered with folds.
These children are diagnosed with microcephaly, decreased muscle tone and reflexes, and problems with swallowing and sucking.
Often, children have congenital cataracts, strabismus, myopia, and atrophy of the optic nerve is possible.
Pathologies from the musculoskeletal system are reduced to hip dislocation, the development of scoliosis, clubfoot and flat feet is possible. Frequent inguinal hernia, umbilical hernia.
In addition to the larynx, the palate suffers, which is often too high or with clefts, there are violations of the bite, anomalies of the upper lip, tongue.
From the side of cardiac activity, such defects are detected as: open arterial flow, ASD, VSD, tetralogy of Fallot, etc.
On the part of the kidneys, this is a violation of the outflow of urine, atrophy of the renal tissue, a horseshoe-shaped kidney.
Children with cat’s cry syndrome are prone to hyperactivity, aggressive behavior, and hysteria.
Children with cat’s cry syndrome are characterized by severe mental retardation, gross violations of speech development, and lag in physical development.
The function of reproduction in such people is most often not impaired, although sometimes a bicornuate uterus is diagnosed in women.
Often, babies with crial-scream syndrome do not live past their first birthday and die from serious heart or kidney defects. Only 10% of patients reach puberty, but there are data on patients who died at the age of 50.
Causes of the cat’s cry syndrome
The causes of crying cat syndrome lie in genetic anomalies that are associated with the loss of a fragment of chromosome 5. Most often, the absence of a short arm is due to a random mutation, and only 10-15% of cat’s cry syndrome is inherited from parents.
Mostly, there is a deletion of 1/3, or half of the short part of the shoulder, its complete absence is extremely rare.
The severity of symptoms will not depend on the length of the lost area, but on exactly where this area is damaged:
The most significant in terms of the development of a high cry is the absence of a part of the chromosome in the 5p15.3 region.
If the site fell out in the 5p15.2 area, then the child will suffer from all manifestations of the syndrome, but he will not have a cat’s cry.
In addition to deletion, cytogenetic variations of the disease can be provoked by such phenomena as:
Chromosomal mosaicism;
Chromosomal rearrangements with the formation of a ring 5 chromosome in which part of the arm is missing;
Translocation of part of the arm of chromosome 5 to a different, non-homologous chromosome.
Damaging factors (if inheritance is excluded) that negatively affect the reproductive cells of the parents, or the zygote formed as a result of fertilization, are:
Alcohol abuse;
Smoking;
Taking narcotic drugs;
exposure to radiation;
Taking medications;
Exposure to chemicals and other harmful influences.
If the family already has a child with a similar symptom, then the chance of re-birth of a baby with a similar anomaly increases.
Diagnosis of feline cry syndrome
When there is a family history of chromosomal mutations, pregnancy planning must necessarily consist of a visit to a geneticist to perform specialized testing.
In addition, the diagnosis of cat’s cry syndrome is possible even during gestation. This allows for prenatal screening. To clarify the existing assumptions, a woman should go through an invasive prenatal diagnosis. Children with suspected crying cat syndrome are tested for cytogenetic testing.
Treatment of the syndrome of a cat’s cry
There is no cure for feline crying syndrome. At the same time, children are registered with a neurologist, who helps to correct existing psychomotor disorders. Courses of massage, physiotherapy, exercise therapy are shown. It is important for the family and the child to provide psychological assistance. You should regularly visit a speech therapist and defectologist.
If there are heart defects, then surgical intervention is indicated.
The prognosis is generally unfavorable, most often such children do not live up to 10 years (in 90% of cases). It is impossible to predict life expectancy, since modern medicine knows cases when such patients reached the age of 40-50 years.