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Goloproizencephaly in fetus and newborn: causes and prognosis

 

Relatively rare disease - holoprozenzepalya - is a violation of intrauterine development, which is accompanied by the lack or underdevelopment of the septum in the anterior cerebral bladder - that is, the anterior brain is not clearly divided into two hemispheres.

Epidemiology

Goloprozenzepalya is considered not too common defect: according to statistics, the disease occurs in 0,06-0,2 newborns per 1 thousand. At spontaneous termination of pregnancy can be observed up to 4 pathological cases per 1 thousand.

In the list of defects in the development of the central nervous system, holoproencephaly is diagnosed in 2-3% of cases, and about 5% between fetuses at autopsy (necropsy).

In more than half of the patients, holoproencephaly has an isolated character, and approximately 22% of cases occur in conjunction with a large number of other developmental defects. In more than 17% of cases, the syndromic variant of the disease is diagnosed.

Goloprozenzepalya is more often diagnosed in girls.

Causes of the holoproencephaly

Goloprozenzepalya is an inborn developmental disorder that occurs as a result of a malfunction in the mechanism of intrauterine growth of the fetus. The disorder is formed, as a rule, by autosomal recessive, autosomal dominant and X-linked variant of inheritance.

One of the reasons that is not related to chromosomal abnormalities is a genetic mutation. At the present time, such genes are susceptible to mutations with the subsequent development of holoproencephalus:

  • SIX3 2p21;
  • TGIF 18p11.3;
  • ZIC2 13q32;
  • SHH 7q36.

Specialists also pay attention to the negative impact of endocrine pathologies in the mother, smoking, drinking alcohol and medications from a number of salicylates.

Risk factors

Factors for the development of holoproencephaly are conditionally divided into hereditary and external.

A number of hereditary factors are disorders of chromosomes, leading to a change in the karyotype:

  • Orbeli syndrome;
  • Acardi syndrome;
  • Meckel syndrome;
  • trisomy 13.

External factors of holoproencephaly are:

  • endocrine diseases in a future mother, insulin-dependent form of diabetes mellitus;
  • low cholesterol;
  • consumption of alcohol-containing beverages;
  • taking certain medications (salicylates, methotrexate, retinoic acid, misoprostol, diphenyl-hydantoin).

Pathogenesis

Bessindromnaya hereditary goloprozensefaliya is transmitted more often by autosomal dominant variant, however other ways of inheritance are possible. About 30-50% of pathologies have a clear connection with chromosome disruption: a predetermined distribution of defects indicates the presence of at least twelve different loci.

The first mutated mutated gene, SHH, is localized at the 7q36 locus. SHH mutational changes provoke approximately 35% of family deviations with autosomal dominant goloprozenzepaliey.

Protein SHH is a produced signal protein that is needed for normal fetal development, both in animals and in arthropods.

Mutational changes of this protein substance lead to functional disorders - holoprozenzepalii. Thus, certain cytogenetic defects that affect the process of transferring genetic information from DNA through RNA to proteins and polypeptides belong to translocations extending to 15-256 kilobases at the 5'-end of the coded SHH gene episode. These types of chromosomal mutations are called positional, since they do not affect the sequence of the encoding, but disrupt the control and change the chromatin structures, which affects the process of SHH genetic information transfer.

Symptoms of the holoproencephaly

Modern specialists distinguish several types of holoproencephaly, differing in symptomatology, degree of expression and frequency of occurrence. Genetics still can not pinpoint the reason why the disease manifests itself in one form or another. Presumably, the development of a certain type of holoproencephaly is affected by the localization of chromosome damage, the features of the course of pregnancy, or some other factors.

Medicine knows such types of holoproencephalus:

  • Alobar holoproencephaly is the most complex type of this pathology, in which there are gross developmental defects affecting the brain, face area, and other organs. Among all cases of the disease, this type occurs in 20% of cases.
  • Semilobar holoprosencephaly is the most common type of disease, with complex but less marked developmental defects. Among all patients, the seven-lobar type is diagnosed in about 50% of cases.
  • Lobar holoprosencephaly is the most "mild" type of disease, which lends itself to relative surgical and drug correction. This type of pathology occurs in approximately 20% of patients with holoproencephaly.

There is also a fourth type of holoproencephaly, which was considered separately from other species only a little over twenty years ago. This is a rare type of middle hemispheric fusion - it is typical for greased features that differ from the classical course of the disease.

First signs

Symptoms of holoproencephaly may be very different, depending on the type of disease. Only a few first signs can be common:

  1. splitting of the upper sky and the lips;
  2. periodic seizures;
  3. mental incompatibility;
  4. broken reflexes;
  5. pathological changes in the cornea and retina.
  • The alobar type of holoproencephaly is characterized by cyclopism, nasal development, a significant mismatch of head size, multiple defects in other organs. Development of the alobar type in most cases ends with spontaneous abortion (or stillbirth): single surviving children die within the first six months of life.
  • Semilobar type of holoproencephaly also differs in characteristic symptoms: close location of the eye sockets, a slight decrease in the head, a violation of the development of nasal passages. Infants with such vices perish during the first 24 months of life.
  • The lobar type is characterized by such signs as anomaly of the structure of the sky, upper lip. Children born with such a pathology can live to an older age, provided that timely surgical intervention is carried out.
  • With an average hemispheric fusion, there are no defects in the face of the child. However, there is mental underdevelopment, convulsive seizures and other neurological symptoms.

In most cases, the fetal hypopensence of the fetus is detected even during the woman's pregnancy, or immediately after the birth of the baby. In addition to external manifestations, the patient has violations of the endocrine function, renal dysplasia, damage to the respiratory system and other organs. Often diagnosed heart disease, autoimmune diseases, lack of reflexes, etc.

Stages

Goloprozenzepaliya is a disturbed development of the brain, which may differ depending on the stage of the lesion:

  • absence of brain separation;
  • abnormal brain separation;
  • incomplete separation of the brain.

Complications and consequences

The consequences of holoproencephaly generally depend on the severity of brain damage.

With alobar holoprozenzepalii, the lethal outcome is most likely.

In other cases, children suffer not only mental retardation, but also convulsive attacks, problems with reflexes, dysfunctional disorders of the brain stem.

According to statistics, more than 40% of children with holoprozenzepalie do not live up to 5-6 months, about 80% die in the first year of life.

With a lobar type of disease a child can live for several years, but still dies from dysfunctional deficiencies.

Diagnostics of the holoproencephaly

Any pediatrician or neonatologist can easily distinguish a healthy child from a baby with holoprozenzepaliey, because the manifestations of the disease are very specific.

Often, holoproencephaly is diagnosed already in the first trimester of pregnancy by ultrasound.

Holoproizentsefaliya on ultrasound is manifested sharply anomalous structure of the skull and brain of the unborn child:

  • In the case of the alobar type of holoproencephaly, the brain looks like a bubble with liquid contents, without the slightest signs of demarcated hemispheres.
  • In the seven-lobar type of the disease, an original sulcus is found on the ultrasound crossing the posterior medulla, which corresponds to a partial demarcation of the hemisphere.
  • With the lobar type of holoproencephaly, diagnosis is a little difficult: the symptoms of incomplete brain differentiation are found only in the depth of the organ, since the thalamus, the corpus callosum and the ventricles are mostly affected.

Analyzes of the blood and urine of a woman are conducted in order to detect a diabetes in the future mother - this will make it possible to suspect a violation of the development of the fetus.

Instrumental diagnosis of holoproencephaly in the prenatal period is the application of molecular genetic methods. The material for the study with suspicion of congenital anomalies is taken with inadequate indications of ultrasound examination, in cases of earlier births of children with various congenital pathologies, with certain signs of genetic problems in parents, in diabetes mellitus in a future mother. To withdraw the material, use amniocentesis, or a chorionic villus biopsy. Genetic tests often consist of the direct separation of the SHH gene to determine impairment, or the study of the karyotype of a child to evaluate chromosome inconsistencies. It is worth noting that in more than half of the cases the test does not reveal a karyotype failure, which makes it possible to classify this technique as uninformative procedures.

What do need to examine?

What tests are needed?

Differential diagnosis

Differential diagnosis of the lobar type of holoproencephaly is performed with septooptic dysplasia. Important distinguishing symptoms in this case are:

  • hypoplastic changes in the frontal lobes;
  • violation of the shape of the temporal horns in the lateral ventricles;
  • absence of frontal horns.

In the prenatal stage, holoproencephaly should be differentiated with severe ventriculomegaly, encephalocele, cerebral cystic formations, hydraencephaly.

Treatment of the holoproencephaly

Goloprozenzepalya does not provide for special treatment. If the doctor considers it appropriate, he can prescribe surgical treatment with correction of defects in the face area. Also carry out symptomatic treatment to alleviate the suffering of the child.

Alobar and semolobar types of holoproencephaly do not lend themselves to neurosurgical intervention, as the state of the baby can not only not be corrected, but also aggravated.

Lobar type of the disease can be treated surgically: the defects of the upper palate and lips are quickly eliminated, adequate nasal passages are formed.

All forms of pathology imply the use of anticonvulsant therapy, with the possible individual correction of other disorders.

The doctor can be prescribed such drugs for holoprozenzepalii:

 

Dosage and route of administration

Side effects

Special instructions

Suxilep

Assign in individual dosages, approximately 5 mg per kg of body weight.

Dyskinesia, dizziness, weakness.

The drug may have a myelotoxic effect.

Sibazon

Assign in individual dosages.

Muscle weakness, hiccough, sleep disorder.

With prolonged use, drug dependence may develop.

Midokalm

Assign at the rate of 5 mg per kg of body weight, in three divided doses throughout the day.

Muscle weakness, lowering of blood pressure.

The drug is not prescribed for children under 3 years.

Cerebrolysin

Assign in individual dosages.

Dyspepsia, tremor, a sensation of heat, an allergy.

Injections of the drug are carried out slowly to avoid local side effects.

Vitamins

Vitamins are not critical in alleviating the condition of a child with holoproencephaly. However, in some cases, the appointment of a patient with vitamin therapy in maintenance dosages may be considered:

Type of vitamin

Effect of Vitamin

Dosage

Vitamin A

Improves sight and condition of mucous tissues.

1250 IU

Vitamin D

Provides the exchange of calcium and phosphorus, improves the formation of bone tissue.

300 IU

Ascorbic acid

Strengthens the immune system and blood vessels.

30 mg

Vitamin B 1

Improves the nervous system.

0.3 mg

Vitamin B 2

Ensures the normal course of metabolic processes.

0.4 mg

Vitamin B 5

It is responsible for the hormonal background and the production of antibodies.

2 mg

Vitamin B 6

Responsible for the processes of hematopoiesis.

0.5 mg

Vitamin B 9

Responsible for the formation of new cellular structures.

25 μg

Vitamin B 12

Adjusts the function of the nervous system.

0.4 μg

Vitamin PP

Responsible for the processes of digestion.

5 mg

Vitamin H

Improves liver function.

15 mcg

Tocopherol

Strengthens blood vessels.

3 mg

Vitamin K

It normalizes the processes of blood coagulation.

10 μg

Physiotherapeutic treatment

Physiotherapeutic procedures, as a rule, do not give a tangible result in any form of holoproencephalus.

Alternative treatment

It is difficult to talk about alternative treatment with such a serious anomaly of child development, like holoproencephaly. The disease is so serious that sick children in most cases do not live and half a year - and only in rare cases can they be prolonged by surgical treatment.

Treatment with herbs in the form of separate alternative recipes can help only symptomatically: weaken the severity of seizures, facilitate breathing and normalize the nervous system of the baby.

  • Mix 1 part of ground wormwood seeds and 4 parts of vegetable oil, insist overnight. Give the child 1-2 drops in a mixture with sugar.
  • Brew 15 grams of thyme in a glass of boiling water, offer the patient for 1 tbsp. L. Three times a day.
  • The petals of the field poppy are dried, grinded to a powdery state and boiled in milk. Add honey and give the patient a little during the day.
  • Prepare a mixture of 1 part anise seed, 1 part fennel seeds, 1 ts cumin seed and 2 parts mint leaves. One tablespoon of the mixture is brewed in 200 ml of boiling water, insist 30 minutes, filtered. Give the patient to drink in small amounts throughout the day.
  • Brewed 2 tsp. Kidney birch, like tea. Drink twice a day for 100 ml.
  • Rub into the hands and feet of the patient mustard oil.
  • Add to the food and drink honey.

A good anticonvulsant and restorative effect is possessed by such plants as the May lily of the valley, white mistletoe, valerian root, walnut septa, hawthorn and barberry fruits, hop cones, as well as oregano, thyme, heather, sweet clover.

Homeopathy

Homeopathic preparations for holoproencephaly can only be prescribed by a doctor: if traditional medicines have been prescribed simultaneously, then they can not be canceled.

As a rule, 30 hundredth dilution is used: dilute a grain in 100 ml of water, give the patient 1 tsp. Every day, half an hour before a meal.

  • Tsinkum metallukum - with children's cramps.
  • Veratrum album - with a tight joint mobility, rigidity of the muscles.
  • Stramonia - with dementia and seizures.
  • Stannum Metallicum - with convulsions with convulsions.
  • Plumbum Metallicum - with muscle spasms, neuroses.
  • Mosshus - with convulsions, loss of consciousness.

Psychological help with holoproencephalus

Pregnancy is an important and responsible period in a woman's life. However, the diagnosis of "fetal hypopensence," delivered almost at the very beginning of pregnancy, brings the future mother a lot of fears and anxieties, and also puts her before a difficult choice: to decide on abortion, or still give birth to a child (what if the diagnosis turns out to be erroneous)? At such moments, a woman worries not only about the health of the developing baby, but also about whether the problem will not repeat in subsequent pregnancies, whether she will be able to have children at all, and so on.

Sometimes the situation so scares a pregnant woman, that family seriously begin to worry about her mental state. At such times it is better to consult a psychologist or a psychotherapist. An experienced psychologist can support a woman in such a difficult period, restore harmony and faith in the future. If necessary, psychological assistance can be provided to all family members.

Prevention

To prevent the development of the baby holoproencephaly, preventive measures are carried out even during pregnancy planning and conception. A woman who prepares herself for the role of a mother should be very careful about her health. Even before pregnancy, all existing diseases should be cured, consult with a dentist, gynecologist, geneticist.

As during the planning period of the baby, and already during pregnancy, it is strictly forbidden to drink alcohol, smoke, take narcotic drugs, and use medicines not prescribed by the doctor. The attending physician, in turn, should know that the woman is planning a pregnancy: on this basis, he prescribes medications that will not affect the quality of conception and the formation of defects in the fetus.

A pregnant woman, starting from the first days of pregnancy, must protect her health, avoid the influence of stress and excessive loads. It is also important to be registered in the women's consultation on time, to take the necessary tests and listen to the recommendations of the medical specialist.

Forecast

Goloprozenzhefalia differs extremely unfavorable prognosis, the degree of which depends on the severity of the detected defects. The level of mortality depends on the type of disease. In a large number of women diagnosed with "fetal hypopensence," the pregnancy ends with a spontaneous interruption-thus the human body itself makes the decision that the future baby does not have the ability to exist. Among the babies born with holoprozenzepaliey most die within the first year of life. With moderate developmental defects, it is likely that the patient will survive the stage of infancy and will live to adolescence.

Last update: 25.06.2018
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Medical expert editor

Portnov Alexey Alexandrovich

Education: Kiev National Medical University. A.A. Bogomolets, Specialty - "General Medicine"

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