Syndrome Patau

The Patau syndrome belongs to the category of diseases caused by the quantitative pathology of the chromosome set. This disease is characterized by the so-called trisomy - the presence of an additional thirteenth chromosome.

The chromosomal nature of the disease was first discovered in 1960 by Dr. Klaus Patau, after whom it was named. The disease has another name - "Trisomy 13". Its frequency is one case for 5 - 7 thousand newborns. The disease is diagnosed with equal frequency in both sexes.

The development of this pathology is due to the non-dissociation of chromosomes in the process of meiosis (the method of cell division responsible for the decrease in the number of chromosomes in daughter cells). As a result of the disruption of this process, an additional thirteenth chromosome appears in the chromosome set, which is the underlying cause of pathological changes and fetal development disorders.

To date, the chromosome theory of heredity does not confirm that this disease can be transmitted from generation to generation. It is believed that the violation of the process of dividing the chromosomes and their non-dissociation is a random event that occurred during the fusion of the genetic set of the sperm and the egg at the time of conception.

It is noted that the risk of a fetus developing this pathology grows significantly with the age of the mother. In addition, there are results of studies that prove the possibility of the emergence of a given chromosomal anomaly under the influence of radioactive radiation.

Many chromosomal diseases, caused by numerical anomalies of chromosomes, have quite specific clinical manifestations. Due to this, the disease can be diagnosed even without additional research - in appearance of the newborn. Patau's syndrome refers specifically to such diseases, and is characterized by multiple anomalies of development.

In a newborn child with the Patau syndrome, the following congenital malformations are observed: craniofacial anomalies - microcephaly, narrowed ocular gaps, small eyes, corneal opacity, oblique low forehead, sunken bridge of nose, clefts of upper lip and palate, and mnogochalost, abnormalities of the development of the feet .

Almost always in newborns with the Patau syndrome, the developmental defects of the intestine, central nervous system, kidneys, heart, and genital organs are revealed. Sick children suffer from deafness, mental retardation, convulsive syndrome, muscle hypotension.

Based on the clinical manifestations that characterize the Patau syndrome, a preliminary diagnosis is made visually, immediately after the birth of the child. Ultrasonic scanning allows visualization of internal malformations, and chromosome analysis confirms the presence of a quantitative chromosomal abnormality.

Typically, children diagnosed with Patau's syndrome die in the first months of life because of severe anomalies in almost all internal organs. Few of them live to be a year old. However, some patients live for several years, moreover, with appropriate care and adequate treatment, life expectancy of such children increases to 5-10 years. However, all of them, as a rule, suffer a deep degree of mental retardation - idiocy.

As for medical treatment, it is usually aimed only at eliminating physiological problems. Usually, surgical correction of pathological changes of the internal organs is performed to maintain basic vital functions, as well as lip and palate plastic surgery. In the rest it is shown especially symptomatic treatment, prevention of infectious and catarrhal diseases, careful care.