There are many diseases that people rarely encounter. That is why few people know about them. These problems include Wolf-Hirschhorn syndrome. What is it, is this disease dangerous and what are the prognoses for life in such patients - all this will be discussed later.
basic information
Initially, it should be noted that such a genetic pathology as Wolf-Hirschhorn syndrome was described recently, in 1965. Several German geneticists did this simultaneously. The basis of this problem is a deletion (special chromosome rearrangements when a part of the chromosome is simply lost) of the short arm of the 4th chromosome. That is, due to certain genetic changes in humans, a part of the above-described 4th chromosome is missing, which leads to external and internal changes. Initially, the problem was called 4p syndrome. Later, pathology began to be named after the names of scientists who took part in its discovery.
Some statistics
Wolf-Hirschhorn syndrome is relatively rare. Frequency of the disease: one case of chromosomal changes in about one hundred thousand healthy children. If we talk about gender, then more often 4p-syndrome is detected in girls than in boys. If you look at the quantitative ratio, then 75 sick girls account for about 50 male children with pathology. It should be noted that scientists do not give explanations to this fact. However, these indicators are very important for the world of science, and specialists have long been working to highlight the main causes of this chromosomal rearrangement. It should also be noted that today about 130 cases of this disease are described in detail, which is quite enough to study this problem.
About the causes of the syndrome in children
When describing a problem such as Wolf-Hirschhorn syndrome, the causes of its occurrence are important to consider first. Initially, it should be noted that scientists cannot name clear external causes, such as bad habits or the wrong rhythm of their parents' lives. In this case, everything is 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 their gender, in contrast to sex chromosomes). Let's go a little deeper into medicine. Researchers argue that this pathology occurs in the event of a loss of exactly 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 that in this case, heredity plays a huge role. So, the carriers of these perestroika were without fail mothers or fathers of children with this diagnosis.
The next point that should be noted: the cause of the syndrome may be 4p- ring chromosomes (in this case, they are not divided longitudinally, as it should be, but transversely). I must say right away that with such a development of events in young patients, additional symptoms stand out that are not characteristic of pure 4p- deletions.
The main clinical symptom
What does Wolf-Hirschhorn syndrome look like? Symptoms that occur with this problem and are indicative of a diagnosis are different. However, in short, then 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 Wolf-Hirschhorn syndrome. So, they can distinguish a whole complex. However, it should be noted that it also happens that the pathology of the child is almost imperceptible, and there are no significant changes in the appearance. The main symptoms of the syndrome are as follows:
- The abnormal structure of the skull, or the so-called "helmet of a warrior." A child may have a beak-shaped nose. Auricles become very large, protrude. There may also be hypertelorism when the distance between the eyes increases to an unusual size. Eyeballs themselves can also develop abnormally.
- Microcephaly, when the skull of a sick child is significantly smaller than that of a healthy child. 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 overgrow, sometimes crevices form.
Internal organs
Sometimes Wolf-Hirschhorn syndrome occurs without damage to internal organs. However, most often they also change due to incorrect division of chromosomes. What then could be?
- Most often, the heart suffers, all sorts of defects of this organ arise.
- Pathologies in the development of the kidneys are possible. There are cystic dysplasia (when the formation of the kidney parenchyma is impaired ), hypoplasia (underdevelopment of either the organ as a whole, or its tissues). Less commonly observed are agenesis of the kidneys, polycystic (multiple cysts form in the kidney tissue), pelvic dystopia of the kidneys and other pathologies in the development of this organ.
- The gastrointestinal tract often suffers. Among the problems distinguish aplasia of the gallbladder (its congenital absence), hernias of the small intestine, mobility of the cecum.
- 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 critically low body weight. And this despite the fact that the mother carries the baby for a full period, 40 weeks.
Mental development
What else is special about Wolf-Hirschhorn syndrome? Karyotype, that is, a set of chromosomes, incomplete, deformed. As a result of which, 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 has not been studied too well, scientists are still working in this direction. But there is already evidence that hypoplasia of the cerebellum or corpus callosum may develop, which affects the normal functioning of the brain. At the same time, I want to note that sometimes patients have very moderate mental retardation, as a result of which such children can fully coexist in society, socialize.
Establishing diagnosis
How can Wolf-Hirschhorn syndrome be identified? Doctors have many reasons to suspect something was amiss. The first thing an obstetrician pays attention to is the birth weight of the baby. Children who subsequently receive this diagnosis are born with critically low body weight, up to 2 kg. Also, the reason for doubting the normal development of the baby is the appearance of the newborn. If we talk about the diagnosis, it differentiates in parallel with the diagnosis of Patau 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, which are called dermatoglyphics in medicine.
Analyzes
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 approximately 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 assigned only to determine violations of the internal organs, pathology in their development. So, for this, you may need an ECG and echocardiography, ultrasound, radiography, CT or MRI.
Treatment
We further consider the Wolf-Hirschhorn syndrome. The treatment of this problem is what I need to talk about. As it has already become clear, this is a congenital genetic pathology, which can not be completely overcome. As such, there is no cure. However, doctors conduct 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. Surgery may sometimes be indicated to normalize the function of improperly developed internal organs.
Patient forecasts for life
How dangerous is Wolf-Hirschhorn syndrome? Photos of patients with this diagnosis indicate that children with this problem often externally differ from ordinary people. This plays a huge role in the socialization of such a person. However, often people with this diagnosis as a result turn out to be quite active members of society. It should be noted that the highest risk of death of babies is in the first year of life. This is especially true if there is damage to the heart. To date, a case of longevity with this pathology has been recorded in our country. This person was able to reach 25 years of age. 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 can be significantly higher than it is today assumed.