Cat scream syndrome
Cat cry syndrome is a rather rare genetic disease that is triggered by a violation of the structure of the short arm of the 5th chromosome. The main sign of this pathology is the characteristic crying of children affected by it, reminiscent of the meow of a cat. This is due to congenital underdevelopment of the larynx, soft cartilage and narrowing of the epiglottis. Also, this disease is known as Lejeune's syndrome - by the name of the French geneticist, who in 1969 first described this disease.
Causes of the cat cry syndrome
It is believed that various factors that have a strong effect on the germ cells of the parents can provoke a mutation that leads to the onset of the cat cry syndrome. You should also take into account the negative impact on the already fertilized egg during the period of cleavage or formation of the zygote. Thus, the main causes of the cat cry syndrome can be identified:
- Heredity;
- Smoking;
- Drugs;
- Alcohol;
- Chemicals and medicines.
The most important cause of the cat cry syndrome, according to medical observations, is a hereditary factor. Therefore, it is very important to know that if one of the family members has a chromosomal disease, genetic testing is necessary at the stage of pregnancy planning. In addition, if one child in a family was born with the syndrome of a cat cry, the likelihood that the second will also be susceptible to this pathology is very high.
It is known that smoking and alcohol have a negative effect on all cells in the body. However, the sex cells and the fetus are most sensitive to their effects during pregnancy. As for drugs, they primarily disrupt the genetic apparatus of cells.
During the first trimester of pregnancy, the use of strong chemicals or medication can also cause cat cry syndrome.
Signs of crying syndrome
As already noted, the main symptom of the cat cry syndrome is the characteristic crying of the child. However, almost a third of children suffering from this pathology lose this feature by the second year of life. In other patients, this symptom becomes chronic. Consider the accompanying symptoms of the syndrome:
- Low birth weight;
- Profuse salivation;
- Impaired sucking and swallowing functions due to deformation of the pharynx;
- Decreased muscle tone throughout the body;
- Frequent constipation;
- Heart defects;
- Mental retardation;
- Violation of physical development;
- Delayed development of speech skills;
- Monotonous movements;
- Aggression and tantrums;
- Hyperactivity.
In addition to the above symptoms, you can also name the external signs characteristic of the cat cry syndrome. First of all, it is a round face with wide-set eyes. As a rule, the outer corners of the eyes are slightly lowered. Patients almost always have a flat bridge of the nose and a wide nose, the ears are set rather low, the neck is short. In addition, in children susceptible to this anomaly, microcephaly is observed, that is, the small size of the skull and brain, which is manifested by protruding frontal tubercles. Over the years, this sign becomes even more pronounced.
Often, children with crying syndrome also have pathologies such as:
- Congenital eye diseases (for example, strabismus, cataracts, optic atrophy, etc.);
- Diseases of the cardiovascular system;
- Diseases of the digestive system (for example, intestinal obstruction, etc.);
- Genitourinary diseases (such as hydronephrosis, kidney horseshoe shape and others);
- Pathology of the musculoskeletal system (for example, umbilical hernia, clinodactyly, congenital dislocation of the hip, clubfoot, flat feet, increased joint flexibility, etc.);
- Cleft lip and palate.
Such deviations are not mandatory additional symptoms of the cat cry syndrome, therefore, not all patients develop. The severity of these diseases in different patients is also different.
As a rule, the sexual and reproductive functions in those susceptible to the disease do not have severe impairments. Also, puberty and menstruation in sick girls occur on time. In rare cases, a two-horned uterus occurs. Boys have small testicles, but spermatogenesis is usually slightly impaired.
Treatment of the syndrome of the cat's cry
As noted above, genetic testing during pregnancy is the best option if a family member has a chromosomal disorder. If it was not carried out, then the syndrome of the cat's cry can be detected already during pregnancy with an ultrasound examination. For the diagnosis to be confirmed, invasive prenatal diagnosis must also be performed.
Newborns with this pathology must be examined by a cardiologist, urologist, ophthalmologist, orthopedist and other specialists. Treatment of the syndrome of cat cry is aimed primarily at eliminating the symptoms and pathologies accompanying the disease, as well as maintaining the vital functions of a person suffering from this disease. This is due to the fact that today this anomaly is incurable.
According to statistics, only 10% of children with this syndrome survive to the age of ten. Most often, patients die in the first years of life, however, the cause, as a rule, is not the genetic disease itself, but concomitant pathologies, in particular, heart disease. That is why the treatment of the syndrome of the cat's cry often involves surgery to correct such a congenital anomaly.
In addition, in order to correct psychomotor activity in this case, the doctor often prescribes a course of drug treatment and psychotherapy, as well as classes with a speech therapist and a defectologist. Physical therapy and regular massage procedures can also significantly improve the patient's condition.
The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!
