There are many diseases that people rarely experience. That is why few people know about them. Wolf-Hirschhorn syndrome also belongs to such problems. What is it, is this disease dangerous and what are the prognosis for life in such patients - all this will be discussed further.
Basic information
Initially, it should be noted that such a genetic pathology as the Wolf-Hirshhorn syndrome was described quite recently, in 1965. This was done simultaneously by several German geneticists. The basis of this problem is a deletion (special chromosomal rearrangements, when part of the chromosome is simply lost) of the short arm of the 4th chromosome. That is, due to certain genetic changes, a person is missing part of the above-described 4th chromosome, which leads to external and internal changes. Initially, the problem was called 4p-syndrome. Later, the pathology began to be called by the names of the scientists who took part in its discovery.
Some statistics
Wolf-Hirschhorn syndrome is relatively rare. Frequency of manifestation of the disease: one casechromosomal changes in about a hundred thousand he althy children. If we talk about gender, then more often 4p-syndrome is found in girls than in boys. If you look at the quantitative ratio, then for 75 sick girls there are about 50 male children with pathology. It should be noted that scientists do not give explanations for this fact. However, these indicators are very important for the world of science, and experts have long been working on identifying the main causes of this chromosomal rearrangement. It should also be noted that to date, about 130 cases of this disease have been described in detail, which is quite enough to study this problem.
About the causes of the syndrome in children
Describing such a problem as Wolff-Hirschhorn syndrome, it is important to consider the causes of its occurrence in the first place. Initially, it should be noted that scientists cannot name clear external causes, such as: bad habits or the wrong rhythm of the life of parents. In this case, things are somewhat more complicated.
Initially, it must be said that this syndrome is dangerous for those patients who have problems with the division of autosomes (paired chromosomes that are the same in the human body, regardless of gender, unlike sex chromosomes). Let's delve a little into medicine. Researchers argue that this pathology occurs in the event of the loss of the 4p16 segment (in this case, the loss of 4p12-4p15 particles provokes the appearance of completely different changes in the appearance and internal organs). It is also important to note thatIn this case, heredity plays a huge role. Thus, mothers or fathers of children with this diagnosis were necessarily carriers of these restructurings.
The next point to be noted: the cause of the syndrome may be ring chromosomes 4p- (in this case, they do not divide longitudinally, as it should be, but transversely). It must be said right away that with such a development of events in small patients, additional symptoms are distinguished that are not characteristic of pure 4p- deletions.
Main clinical sign
What does Wolf-Hirschhorn syndrome look like? The symptoms that appear with this problem and are indicators of a diagnosis are different. However, in short, this pathology is characterized by delays not only in the physical, but also in the psychomotor development of the baby. This is the main clinical sign of the problem.
Symptoms
Be sure to tell what symptoms accompany the Wolf-Hirschhorn syndrome. So, they can be identified as a whole complex. However, it should be noted that it also happens that in a child the pathology is almost imperceptible, and there are no significant changes in appearance. The main symptoms of the syndrome are as follows:
- Uncharacteristic structure of the skull, or the so-called "warrior's helmet". The child may have a beak-shaped nose. The auricles become very large, protrude. There may also be hypertelorism, when the distance between the eyes increases to an unusual size. The eyeballs themselvesmay also develop incorrectly.
- Microcephaly, when the skull of a sick child is significantly smaller than that of a he althy one. The brain also decreases in size.
- Convulsive syndrome, that is, a nonspecific reaction of the child to various external stimuli. At this time, the baby may even die.
- The palate, tongue or upper lip may not heal, sometimes clefts form.
Internal organs
Sometimes the Wolf-Hirschhorn syndrome occurs without damage to the internal organs. However, most often they also change due to improper division of chromosomes. What could happen then?
- Most often the heart suffers, all kinds of defects of this organ occur.
- Possible pathologies in the development of the kidneys. There is cystic dysplasia (when the formation of the kidney parenchyma is disturbed), hypoplasia (underdevelopment of either the organ as a whole or its tissues). Less common is kidney agenesis, polycystosis (multiple cysts form in the kidney tissue), pelvic dystopia of the kidneys and other pathologies in the development of this organ.
- The gastrointestinal tract also often suffers. Among the problems are aplasia of the gallbladder (congenital absence), hernia of the small intestine, mobility of the caecum.
- The cross-coccygeal region is also deformed, where funnels or irregularly shaped depressions can form.
It should also be noted that with this syndrome, a child is born with a critically low body weight. And this despite the fact that the mothercarries the baby to full term, 40 weeks.
Mental development
What else is special about Wolf-Hirschhorn syndrome? Karyotype, that is, a set of chromosomes, incomplete, deformed. As a result, in addition to deviations in physical development, mental retardation is also observed. It can be mild, moderate or severe. It should be noted that this side of pathologies is not yet well studied, scientists are still working in this direction. But there is already evidence that hypoplasia of the cerebellum or the corpus callosum can develop, which affects the normal functioning of the brain. At the same time, I would like to note that sometimes patients also have a very moderate mental retardation, as a result of which such children can fully coexist in society, socialize.
Diagnosis
How can Wolf-Hirschhorn syndrome be diagnosed? Doctors have many reasons to suspect something is wrong. The first thing the obstetrician pays attention to is the weight of the child at birth. Children who subsequently receive this diagnosis are born with a critically low body weight, up to 2 kg. Also, the reason to doubt the normal development of the baby is the appearance of the newborn. If we talk about making a diagnosis, then it differentiates in parallel with the diagnosis of Patau's syndrome (the presence of an extra 13th chromosome in the cells, which causes similar symptoms). However, in this case there will be very important differences, such as, for example, the presence of special patterns on the skin, called dermatoglyphics in medicine.
Tests
To make a diagnosis, a cytogenetic study is carried out, during which a violation in the chromosomes is determined. In this case, the diagnosis is confirmed in about 60% of cases. A subspecies of the study is the so-called FISH method, when doctors determine the non-specific position of chromosomes in DNA.
Other studies can be prescribed only to determine the violations of the internal organs, pathologies in their development. So, this may require an ECG and EchoCG, ultrasound, X-ray, CT or MRI.
Treatment
We further consider the Wolf-Hirschhorn syndrome. The treatment of this problem is what needs to be said. As it has already become clear, this is a congenital genetic pathology, which cannot be completely coped with. There is no such treatment. However, physicians carry out symptomatic therapy, directing forces to support the normal functioning of damaged organs. Genetic counseling is also indicated for this problem. In this case, the mother and father of the sick baby are examined. Sometimes surgery may be indicated to normalize the functioning of abnormally developed internal organs.
Patient life predictions
How dangerous is Wolf-Hirschhorn Syndrome? Photos of patients with this diagnosis indicate that children with this problem often look different from ordinary people. This plays a huge role in the socialization of such a person. Howeveroften people with this diagnosis as a result turn out to be quite active members of society. At the same time, it should be noted that the highest risk of death for babies is in the first year of life. This is especially true if there is damage to the work of the heart. To date, a case of longevity with this pathology has been recorded in our country. This man was able to reach the age of 25. However, such cases are very rare. Doctors note that some patients (newborns) die before such a diagnosis is made. So the mortality rate in the first year of life of children with this pathology may be significantly higher than is currently assumed.
