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The Syndrome of Undine's Curse: Why Do Healthy Children Die?
Last reviewed: 23.04.2024
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The causeless infant mortality at first glance has worried humanity for many hundreds of years. In general, a healthy baby safely falls asleep, and then simply stops breathing and dies. This phenomenon is quite common among the children of the first year of life. It used to be called the syndrome of sudden child death, later it was unofficially called "Undine's Curse Syndrome".
Maybe because the percentage of child mortality due to sudden stopping of breathing in a dream is much higher than in adults, not everyone knows that pathology can manifest itself at an older age. And the time of development of the disease is very difficult to predict, while the consequences of "breathlessness" can be the most tragic.
Let's see what kind of syndrome it is, what are its causes and why it got such an unusual name.
A bit of history
In the world there are many beautiful myths and legends that have come down to us since ancient times and tell of the great power of love bordering on the terrible power of hate, whose guilt most often becomes infidelity and betrayal. Most often, such stories have a tragic end, despite the entire romanticism of the situation at the very beginning.
It was this chain of events, based on the above feelings, that formed the basis of the German-Scandinavian legend of the mermaid Undine, who fell in love with an ordinary person. This honor was awarded to a young knight named Lawrence, who was so fascinated by his chosen one that he swore to her in love and loyalty, saying that he would be faithful to his beloved until he could breathe, waking up in the morning. Beautiful Ondina believed the promises of the young man, married him and gave birth to an heir, sacrificing eternal youth and beauty.
The time has passed, the love of the beautiful prince has cooled down, and he began to look at younger and attractive girls, forgetting about his oath. The identity of the mermaid, once so attractive to a young man, began to irritate him, and he preferred ordinary earth beauties.
Once Undine saw another girl in the arms of her lover. She had before her eyes the happy day when Lawrence swore in eternal love, his words sounded in my head "while I can breathe, waking up from sleep in the morning." Love and hate overwhelmed Undine's heart and she imposed a curse on the traitor, according to which he would breathe only when he was awake, and, falling asleep, put himself in danger of death, because he could not breathe in his sleep. Thus, he will never again for a moment forget about Undine, while he is still alive.
The end of this story is sad. The knight died in a dream when his breath stopped. The same fate was waiting for a lot of babies and adults with the syndrome of the curse of Undine, who at night stopped breathing, without which the life of a person is unthinkable.
Epidemiology
Causes of the undine's Curse Syndrome
For a long time, medical scientists could not establish the relationship between the development of the disturbance of respiratory function and the state of human health, because of the syndrome of the curse of Undine, healthy babies died, which was predicted a long, happy life. This led the doctors into confusion, and they simply could not explain the reason for what happened to the distraught parents of the kids.
In the middle of the last century, scientists managed to link the pathology of respiration with nocturnal apnea, which made it possible to treat Undine's syndrome as one of the types of sleep apnea. But it still did not explain the reason for respiratory depression on the background of excellent health and the absence of pathologies that affect the quality of inspiration or expiration.
The solution to the mysterious phenomenon was given by geneticists already in our century. They found in the patients with the Undine curse a genetic mutation of the RNOX2B gene of chromosome 4p12, which is responsible for the development of the respiratory center in the brain. The mutation causes certain disturbances in the respiratory function, which is the cause of the Undine's curse syndrome, which for a long time is considered inexplicable.
Undine's syndrome, fortunately, does not have a hereditary character. But on the other hand, the harder it is to foresee, because the causes of the gene mutation remain a mystery.
Risk factors
But not all Undine's curse syndrome makes itself felt in infancy. This pathology does not fit into certain age limits. There is no so far for its characteristics and such notions as risk factors. Fatal arrest of breathing can occur in any person at any age, and here the main thing is to help the patient in time, thereby saving his life.
There are, however, the syndrome of small sexual limitations. As you remember, the curse of Undine concerned her lover, who, as it should, was representative of the strong half of humanity. So, statistics argue that it is men who are most prone to the disease, although cases of development of pathology in women are not excluded.
According to some studies, it can be argued that every tenth representative of the stronger sex, falling asleep, risks never waking up again due to a sudden stop of breathing. And for men who have crossed the 40-year threshold, the likelihood of the onset of symptoms of the Undine's curse syndrome increases fourfold.
Pathogenesis
Breathing is life, and it's very difficult to argue with this statement. Oxygen entering the body during inspiration is the driving force of literally all vital processes. Life just disappears without him, so after the cessation of breathing, the death of a person usually occurs.
The syndrome of nocturnal sleep apnea, namely in scientific circles is called the syndrome of Undine's curse, manifests itself in the form of a brief ten to fifteen-second cessation of respiratory function observed during sleep. This state in our lives has been experienced by each of us at least once. Such a short period without the introduction of oxygen can not cause serious damage to health or life, if this happens rarely. If such breathing stops are observed more than 5 times within an hour or become more prolonged, this is a reason to seriously worry about your health, since the risk of developing various pathologies against the background of oxygen starvation and even death in a dream is great.
The process of breathing, like many other processes in the human body, is carried out automatically and is controlled by this process, as usual, the brain. From the respiratory center of the brain there is a constant current of impulses to the respiratory system, and we do not even think about when we need to inhale or exhale. If in a waking state a person can somehow take this process under his control, then in our sleep our breath is fully automated. This allows us to live at a time when other body functions are to some extent oppressed.
The danger of the syndrome of Undine's curse is that a person falling asleep becomes unable to control his breathing. And when the activity of the respiratory center is disrupted, signals from the brain stop coming and breathing stops, the person remains helpless in sleep, because he does not even realize what is happening to him.
Symptoms of the undine's Curse Syndrome
As already mentioned, the syndrome of Undine's curse, is one of the types of nocturnal apnea, which is characterized by respiratory arrest in a dream. Obstructive sleep apnea, affecting mainly men in 40, is a frequent stopping of breathing in a dream due to the appearance of a barrier to air flow in the upper respiratory tract. The reasons for this condition can be overweight, anatomically wrong structure of the throat, age changes in muscle tone, bad habits, heredity, rhinitis, some metabolic diseases, etc.
Central apnea has the same pathogenesis as Undine's syndrome. The stoppage of breathing is due to the absence of a signal from the brain. But the causes of the disease lie not in the mutation of the gene, but in severe brain pathologies that occurred during the period of intrauterine development or which resulted from various diseases and head injuries.
Mixed type of apnea is most often diagnosed in infants from 0 to 1 year old, and can have either one or several reasons.
Syndrome of the curse of Undine is sometimes called congenital hypoventilation of the lungs, the main symptoms of which are the cessation of respiratory function (respiratory failure) and hypoxia (oxygen starvation of the brain and the body as a whole).
As with other types of nocturnal sleep apnea, accompanying symptoms such as increased irritability and incontinence, depression, severe fatigue, lack of attention, and as a result a decrease in working capacity, headaches due to lack of sleep rest at night. Because of fear of dying in a dream, a person is afraid to fall asleep, because breathing may not recover in a short time. This exhausts the patient both physically and psychologically.
Disturbances in respiratory function in patients with any kind of apnea can manifest as a rapid breathing, tachycardia, changes in voice, dyspnea, cyanotic skin. Most often parents of children with Undine's syndrome paid attention to the fact that the child stopped breathing, and his skin acquired a bluish tinge.
There are also some disorders in the vegetative system of the body. The patient has hyperhidrosis, periodic dizziness and fainting associated with cardiac rhythm disturbance, peristalsis of the esophagus.
Complications and consequences
If you do not take any measures to prevent the stopping of breathing in patients with nocturnal sleep apnea, this threatens not only a fatal outcome. Even if a person remains alive after an attack of suffocation, even a short-term cessation of oxygen supply to the brain can adversely affect his health, especially if such attacks periodically recur.
In small patients with the syndrome of Undine's curse, this applies not only to the time of night sleep, even in a state of wakefulness, breath control is not automatic, as in a healthy person. As a result, the blood of patients is not sufficiently saturated with oxygen, but the level of carbon dioxide they exceed the norm.
All this can not but affect the work of the brain and the cardiovascular system, although other organs and body systems also have a hard time. And yet the brain suffers first of all, which can withstand a maximum of 4-5 minutes without oxygen, after which irreversible processes of brain tissue die off, which can not but affect the work of the corresponding organs and systems of the body.
The brain is starving - the nervous system suffers as well. As a complication of the syndrome of Undine, one can consider the development of a neuropsychic syndrome, the manifestations of which are parkinsonism, dementia and psychosis.
In addition, the constant oxygen starvation of the brain leads to a decrease in the capacity for work and learning ability of the person, some babies do not know how to speak for a long time, they lag behind in development from their peers, they develop deficiency of different organs.
The heart can do without oxygen for about half an hour, but this does not mean that a decrease in the level of oxygen in the blood during this time will not affect the work of the cardiovascular system. When testing oxygen starvation, the heart muscle tries to fill this gap, shrinking forcefully to increase the flow of blood. As a result, the vessels are sharply compressed, thereby contributing to increasing blood pressure pressure on their walls. And the increase in blood pressure already has a negative effect on the condition of patients who have nausea, headaches, worsens the health, increases the risk of heart attack and stroke, which is especially terrible for people of age who have significant wear and tear.
Diagnostics of the undine's Curse Syndrome
Since the syndrome of Undine's curse does not have its own specific manifestations, and its first signs are similar to other types of apnea, the diagnosis of this condition is rather difficult. To detect the presence of a gene mutation in a person can be done only by a special genetic examination, but at the present time the question is not put this way.
Nevertheless, there are various methods of instrumental diagnostics for sleep research that help to exclude or confirm the diagnosis of "obstructive apnea".
Polysomnography is the observation of a dream with the registration of certain parameters: muscle tone (electromyogram), brain activity (encephalogram), oxygen saturation (pulse oximetry), cardiac work (electrocardiogram), etc. Such studies are conducted in the sleep clinic, procedure of the house using a special device.
An important role in the diagnosis is played by a patient's interview with a description of all the symptoms present, which is one of the rather informative methods of differential diagnosis. It may be necessary to consult an ENT doctor, as well as conduct some tests.
To exclude disturbances in respiratory function due to injuries and brain diseases, various head examinations such as EEG, EchoEG, ultrasound, MRI, neurosonography in newborns, computed tomography, etc. Can be performed.
Treatment of the undine's Curse Syndrome
I think even an inexperienced person in medical matters becomes clear that it is almost impossible to correct a gene mutation when an event has already occurred. At least, modern science has not yet reached this point. Medications that provide relief to patients with other types of nocturnal sleep apnea, in particular with obstructive sleep apnea, are not able to help patients with Undine's curse syndrome. But this does not mean that such people are thrown to the mercy of fate.
Yes, in the old days, when the syndrome of sudden infant death did not have worthy explanations, babies, who suddenly stopped breathing, basically could not be saved. But science does not stand still, and today it has several effective methods of alleviating the condition of patients with Undine's syndrome.
One of the first, albeit not very convenient methods of preventing respiratory arrest, was oxygen therapy with a ventilation mask that the patient had to wear before bed, and the use of an apparatus for artificial ventilation. These methods, for all their effectiveness, have many shortcomings.
First, bulky equipment provides for monitoring such patients in a clinic, and babies very often spend long years of their life in hospitals, because sleep without a device is sometimes equivalent to death. Sometimes kids are attached to the devices from birth and can not do without it for life, at least during periods of day or night sleep.
Secondly, there are certain inconveniences, such as various tubes of equipment that hold down motion in a dream, which prevents patients from resting fully. A full sleep is a pledge of productive work and training.
Thirdly, when using devices for ventilation, it is possible to get various infections in the body. The use of such instrumental treatment can negatively affect the speech of a small patient.
Scientists from a number of European countries, in particular Germany and Sweden, went further and developed an innovative method of controlling the stopping of breathing in a dream. A small surgical intervention consisting in implanting a special "smart" electrode in the diaphragmatic nerve of the brain ensures, if not treatment of patients with the syndrome of nocturnal sleep apnea, a significant relief of their condition without special inconveniences.
The patient can move freely, he is not attached to volumetric equipment, because the implanted electrode has microscopic dimensions. The electrode itself is a kind of stimulator of the respiratory rhythm, which, if necessary, sends pulses to the nerve endings of the diaphragm instead of the brain, the diaphragm contracts and the person starts breathing again.
Forecast
The prognosis in this case depends on how quickly effective measures have been taken to eliminate malfunctions in the respiratory function of the body. Doctors believe that it is necessary to operate such patients as soon as possible, as soon as the symptoms began to manifest themselves in order to prevent oxygen starvation of the organism and the consequences associated with it.
Yes, the cost of the innovative device is still very high and for many is not very strong, that's why the children are forced to wait their turn for a full life for a long time, remaining connected to the devices of artificial ventilation. But, perhaps, science will still be able in the near future to find ways to determine the mutation in embryos and somehow eliminate it before the birth of the baby. And then the syndrome of Undine's curse will become the same legend as the story of the mermaid's love for the common man.