Cat Cry Syndrome - Causes, Symptoms And Treatment

2024 Author: Josephine Shorter | [email protected]. Last modified: 2024-01-07 17:49

Cat scream syndrome

Feline cry syndrome is a genetic disorder in which there is a deletion (loss of some chromosomal material) of part of the short arm of chromosome 5. A complete loss of the shoulder is possible, or the loss of half or 1/3 of its part. The name of the syndrome was given by the fact that the crying of sick children resembles the meow of a cat, however, this is not the only developmental anomaly in this pathology. Cat cry syndrome is also called Lejeune syndrome, after the pediatrician who first described this disease in 1963.

The 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.

Content:

• Symptoms of the crying syndrome
• Causes of the cat cry syndrome
• Diagnostics of the syndrome of a cat cry
• Treatment of the syndrome of the cat's cry

Symptoms of the crying syndrome

Symptoms of the scream syndrome are as follows:

• For children in the neonatal period, slight prenatal malnutrition with an average body weight of 2 kg 500 g is characteristic. In this case, such children appear most often in due time.
• The threat of miscarriage during pregnancy is rare, no more often than ordinary women.
• The earliest sign of the syndrome is the crying of a baby, which sounds like a cat's meow. Such a piercing sound is explained by the structural features 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 indicate that the crying of a child like a cat's cry has a central origin and does not arise as a result of an anatomical disorder of the larynx. The disappearance of this symptom by 2 years is possible, which happens in 1/3 of children. The rest of the patients with a cat cry always live.
• As for the appearance, in such people, the facial part of the skull is extended above the brain, the face itself has a moon-shaped shape. The distance between the eyes is increased, their incision is anti-Mongoloid with a typical Mongolian fold (epicanthus). The auricles are deformed, the nasal bridge is flattened, the neck is short, covered with folds.
• Such children are diagnosed with microcephaly, decreased muscle tone and reflexes, and have problems with swallowing and sucking.
• Children often have congenital cataracts, strabismus, myopia, optic nerve atrophy is possible.
• Pathologies from the musculoskeletal system are reduced to dislocation of the hip, possibly the development of scoliosis, clubfoot and flat feet. Inguinal hernias and umbilical hernias are not uncommon.
• In addition to the larynx, the palate suffers, which is often too high or with clefts, there are abnormalities from the bite, anomalies of the upper lip, tongue.
• On the part of cardiac activity, defects such as: open arterial flow, ASD, VSD, tetrad of Fallot, etc. are found.

• On the part of the kidneys, this is a violation of the outflow of urine, atrophy of the renal tissue, the horseshoe-shaped form of the kidneys.
• Children with crying syndrome are prone to hyperactivity, aggressive behavior, hysteria.
• Children with cat cry syndrome are characterized by severe mental retardation, severe speech disorders, and physical retardation.
• The reproductive function in such people is most often not impaired, although sometimes a bicornuate uterus is diagnosed in women.

Often, babies with crying syndrome do not live to see 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 50 years of age.

Causes of the cat cry syndrome

The causes of the crying syndrome lie in genetic abnormalities that are associated with the loss of a fragment of chromosome 5. Most often, the absence of a short shoulder is due to an accidental mutation, and only 10-15% of the cat cry syndrome is inherited from the 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 the symptoms will depend not on the length of the lost area, but on where exactly 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 falls out in the 5p15.2 area, then the child will suffer from all the manifestations of the syndrome, but he will not have a cat's cry.

In addition to deletion, the following phenomena are capable of provoking cytogenetic variations of the disease:

• Chromosomal mosaicism;
• Chromosomal rearrangements with the formation of a ring chromosome 5 in which part of the shoulder is missing;
• Translocation of part of the arm of chromosome 5 to another, 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 medicines;
• 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.

Diagnostics of the syndrome of a cat cry

When there is a family history of chromosomal mutations, pregnancy planning should necessarily consist of visiting a geneticist to perform specialized testing.

In addition, the diagnosis of the syndrome of the cat's cry is possible even during gestation. This allows prenal screening to be done. To clarify the existing assumptions, the woman should go through invasive prenatal diagnosis. In children with suspected cat cry syndrome, tests are taken for a cytogenetic study.

Treatment of the syndrome of the cat's cry

There is no cure for the syndrome of cat cry, as such. In this case, children are registered with a neurologist who helps to correct the existing psychomotor disorders. Shown are courses of massage, physiotherapy, exercise therapy. It is important for the family and the child to provide psychological assistance. You should regularly visit a speech therapist and a speech pathologist.

If there are heart defects, then surgery 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.

Article author: Mochalov Pavel Alexandrovich | d. m. n. therapist

Education: Moscow Medical Institute. IM Sechenov, specialty - "General Medicine" in 1991, in 1993 "Occupational Diseases", in 1996 "Therapy".