In the Holoprosencephaly it is a malformation of the human brain that occurs with relatively high frequency. Most of the embryos affected die in the womb. Therefore, only a few patients with holoprosencephaly are born alive. Holoprosencephaly forms prenatally and primarily affects the face and the anterior part of the brain.
What is holoprosencephaly?
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The Holoprosencephaly occurs relatively frequently, with the prevalence being between one and four cases per 1000 pregnancies. However, most affected children still die in the uterus, so the disease actually affects between 5,000 and 20,000 live-born patients. Holoprosencephaly is more common in women than in men.
About half of those affected have chromosome aberrations. It is therefore necessary to carry out an analysis of the chromosomes in the affected patients. Holoprosencephaly is particularly common in babies born to relatively young women.
Holoprosencephaly forms between the third and sixth week of life of the embryo. The reason is that the front part of the brain does not divide completely. The malformation results from impairments on the midlines of the skull. The forebrain, which consists of the diencephalon and the endbrain, does not differentiate completely.
causes
The exact processes and causes of the pathogenesis of holoprosencephaly are not known. In the majority of cases, holoprosencephaly shows up sporadically. However, genetic factors probably also exist, such as an undersupply of the substance cholesterol. This promotes the developmental disorder of holoprosencephaly.
In the mother, too, there are various favorable factors for the development of holoprosencephaly. For example, diabetes mellitus, toxoplasmosis and viral infections of the embryo have a beneficial effect on the development of the disease. Various external factors such as retinoic acid or hypocholesterolemia may also support the formation of holoprosencephaly.
In addition, there are numerous genetic diseases that are associated with holoprosencephaly with an above-average rate. These include, for example, chromosome abnormalities, such as trisomy 13, Joubert syndrome, trisomy 18 and the so-called 18p syndrome. Basically an autosomal recessive or autosomal dominant inheritance path of holoprosencephaly is suspected.
Symptoms, ailments & signs
Holoprosencephaly is associated with various signs, but the spectrum of possible symptoms in different people is extremely wide. For example, some patients with holoprosencephaly have a cleft lip and palate, close eye spacing, or a single, central incisor.
Symptoms such as cyclopia, arrhinencephaly and agenesis are also possible. Sometimes a so-called corpus callosum agenesis occurs. In the area of the brain, an alobar, a lobar or a semilobar holoprosencephaly can be seen.
Diagnosis & course of disease
A diagnosis of holoprosencephaly is possible today using prenatal examination methods. Fine ultrasound techniques are primarily used. In this way, holoprosencephaly can be diagnosed at relatively early stages in embryos in the womb.
The semilobar and the alobar holoprosencephaly are usually discovered relatively quickly. In contrast, the diagnosis of the lobar form of holoprosencephaly is often much more difficult. As soon as the presence of holoprosencephaly in the embryo is confirmed, the parents are given the opportunity to terminate the pregnancy for medical reasons.
If they decide to keep the child, appropriate measures must be taken. These initially relate to the selection of the maternity hospital so that the newborn is optimally cared for. The diagnosis of holoprosencephaly is also repeated or for the first time after birth. The doctor usually uses various imaging techniques. These include, for example, an MRI examination, sonography and computed tomography.
Complications
In most cases, holoprosencephaly causes the child to die in the womb due to the various deformities in the brain. In many cases, the parents of the child experience psychological complaints and depression, which must be treated by a psychologist. Often it can take years for the psychological complaints to improve.
If the child does not die before birth, various malformations and deformities occur. Cyclopia or a cleft palate occurs in most cases. This has a very negative impact on the patient's everyday life. Often the affected person only has a single incisor, which also complicates the deadly increase in food.
Serious complications can also arise when the child is born. In many cases, the parents also suffer from psychological complaints after the birth due to the child's malformations. Unfortunately, it is not possible to treat holoprosencephaly causally or symptomatically, so that the child dies in the first few months. In rare cases, however, the child can survive the first year of life and then has an increased chance of complete survival.
When should you go to the doctor?
Holoprosencephaly must definitely be examined and treated by a doctor. This disease does not heal itself and in many cases the person concerned dies. Often the children die in the womb so that no further treatment is possible. A visit to the doctor can help diagnose holoprosencephaly, as the symptoms can be identified during an ultrasound examination. The mother did not experience any further complaints.
However, through regular examinations, holoprosencephaly can be detected early. In the case of a stillbirth or the death of the child shortly after the birth, the parents concerned should contact a psychologist in order to avoid psychological upsets. Should the child be born alive, the parents will need strong support from various doctors in order to keep the child alive. The child is mostly dependent on a stay in hospital.
Doctors & therapists in your area
Treatment & Therapy
Currently, the cause of holoprosencephaly cannot be treated. As a rule, patients therefore receive symptomatic treatment that is tailored to the individual case. In principle, most babies with holoprosencephaly die in the womb. The prognosis for live-born patients also tends to be negative.
In most cases, severe forms of holoprosencephaly lead to death within the first few months of life. The form of holoprosencephaly also affects the prognosis of the disease. The disease is less favorable in the alobar type than in the lobar or semilobar.
Patients who survive their first year of life often have a more positive course of holoprosencephaly. In many cases, these individuals reach adulthood. However, these people also suffer from physical and cognitive disorders as well as neurological impairments.
These are expressed, for example, in epileptic seizures. Sometimes the sick children are not able to develop a spoken language. Sleep disorders are also relatively common among people affected by holoprosencephaly.
Outlook & forecast
The prognosis for holoprosencephaly is extremely poor. A majority of affected patients die in the abdomen during the developmental phase. The disease develops in the womb in the first few weeks of the growing embryo and cannot be treated. A diagnosis is made during check-ups during pregnancy while still in the womb, but there is no possibility of initiating treatment or correcting the genetic defect.
When it comes to birth, many newborns die immediately after delivery. Survivors cannot receive adequate therapy. You are born with some severe malformations of the brain that cannot be changed. Treatment is based on the symptoms present and is used to relieve the symptoms. The lifetime of a newborn with holoprosencephaly is significantly reduced. In addition, the patient will be dependent on outside help for the rest of his life. Various dysfunctions occur and there is severe mental retardation.
In addition to the poor prognosis for those affected, there are sequelae or illnesses of relatives. The mental stress can lead to a mental disorder in the parents. In addition to an anxiety disorder, trauma or depression, long-term impairments to well-being and the loss of zest for life due to the unfulfilled desire to have children or a stillbirth are possible.
prevention
The causes of holoprosencephaly are not fully understood and in the majority of cases are beyond control. Because the disease is primarily caused by genetic and external factors. Only certain identified risk factors are partially within the control of the expectant mother.
This includes, for example, diabetes mellitus. Research also shows that holoprosencephaly particularly affects very young pregnant women. Holoprosencephaly in the unborn child can be detected at an early stage through prenatal examinations.
Aftercare
Unfortunately, the majority of children affected by holoprosencephaly already die in maternal suffering or immediately after birth. In these cases, follow-up care is limited to psychological support for relatives. This should primarily be done by your own family and close friends and, if necessary, can be supplemented with psychotherapeutic therapy to reduce the risk of depression or other psychological complaints.
If the child was born alive, it must receive intensive medical care in order to keep it alive. In most cases, this happens in the first few months of life as part of a long hospital stay. The parents are gradually involved in the care and can later also work towards receiving intensive medical care as part of home care.
If the child survives the critical first year of life, the outcome is positive and there is a high probability that adulthood can be reached. Due to the many physical and cognitive disorders as well as the neurological impairments, however, they are dependent on outside help for the rest of their lives. The relatives should ensure that regular check-ups are observed and that epileptic seizures and other symptoms and complaints are treated accordingly by the doctor.
You can do that yourself
It is not possible to treat holoprosencephaly through self-help. Many of the children affected either die in the womb or immediately after birth. In the event of premature death, the parents need psychological support. This should mainly be done through close friends or your own family. But contacting a psychologist can also help affected parents. With this help, psychological complaints or even depression can be avoided and reduced.
If the child survives the first few years of life, it can in many cases also reach adulthood. However, the patients are dependent on help in their everyday life, as they cannot do many everyday things on their own. Ideally, this help comes from your own parents, relatives or friends. On a psychological level, too, contact with other people always has a positive effect on the course of the disease. Cognitive disorders can be alleviated through various exercises.
In the event of an epileptic fit, however, immediate medical treatment is necessary. Often, contact with other parents whose child suffers from holoprosencephaly can also have a positive effect on the disease and quality of life, as this leads to an exchange of information.
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