Feline scream syndrome (or Lejeune syndrome) is a genetic disease that is very rare and is due to the fact that part 5 of the chromosomes is missing. Children suffering from this disease often cry, and their crying is like a cat screaming. This is where the name came from - cat scream syndrome.
This syndrome occurs in one child per 50,000 births. It happens in any ethnic group, often affects the female gender.
This disease was first described by a French geneticist and pediatrician Jerome Lejeune. It happened in 1963. Hence the second name of the disease.
Symptoms of the disease
Cat scream syndrome occurs due to certain problems with the nervous system and larynx. Because of these problems, the baby’s cry appears, very similar to the one that cats publish. About one third of children with this syndrome lose their characteristic trait (scream) by the age of two.
Symptoms that may indicate that the child has feline scream syndrome:
- difficulties with food, especially sucking and swallowing;
- small baby weight and slow physical development;
- a delay in the development of speech, cognitive functions and movement functions;
- behavioral problems: aggression, hyperactivity and tantrums;
- atypical facial features that, over time, may disappear;
- constipation;
- excessive salivation.
In addition, the typical signs of the disease can be called: hypotension, microcephaly, developmental delay, round face shape, lowered corners of the eyes, flat back of the nose, squint, ears located too low, short fingers and so on. People with Lejeune's syndrome most often do not have any problems with the reproductive system.
Diagnosis of the disease
The diagnosis is usually made on the basis of the scream characteristic of the symptom and other symptoms listed above. In addition, families who already have people suffering from this disease can be offered genetic testing and counseling on what pregnancy syndromes might be.
What does the syndrome lead to?
Unfortunately, the predictions for a person suffering from cat scream syndrome are rather disappointing. After all, their life expectancy is much shorter than that of healthy people. Moreover, patients can die not only from the syndrome itself, but also from the complications that accompany it (renal and heart failure, infectious diseases).
The clinical picture and the life span of the patient can vary greatly. It all depends on how badly the internal organs are affected, especially the heart.
A significant role in increasing life expectancy is played by the quality of everyday life and medical care. But it is worth noting that most of the patients die in the first few years of their lives. Only 10% of children survive to 10 years. But there are, however, isolated descriptions of patients who have survived to 50 or more years. Therefore, it is very important not to lose hope.
Prevention and treatment
Quite often, heart defects require surgical correction, therefore, a sick child needs to be consulted with a pediatric cardiac surgeon and a special diagnosis called echo cardiography. As such, there is no treatment, only symptomatic, because problems with chromosomes cannot be cured in any way, this is genetics.
Patients are given massages, gymnastics, prescribed medications that stimulate mental development.
If you want to avoid the situation of giving birth to a child suffering from a disease such as cat scream syndrome, your married couple must definitely undergo a genetic examination and get specialist advice. Only in this way can you protect yourself from the birth of a terminally ill child. And this is the dream of every couple, isn't it?