A neuroleukemia or neuraleukemia syndrome is a specific lesion of the central nervous system( cranial nerves, brain and its shell) with cancerou...
Dandy Walker Syndrome - severe congenital anomaly of the brain
The Dandy Walker Syndrome is a congenital pathology characterized by underdevelopment of the cerebrospinal fluidways through which the cerebrospinal fluid flows out of the ventricles of the brain necessary to provide nutrition and metabolism in the brain.
In this case, an abnormal intracranial development of the cavity filled with CSF is formed. Very often pathologies are accompanied by heart defects, a defect or the absence of a part of the cerebellum.
For the first time an anomaly was described by American specialists in the field of neurosurgery - Walter Dandy and Earl Walker in the 20's.the last century.
The Dandy Walker Syndrome is considered a rather rare anomaly. The frequency of birth of sick children is 1 case per 25 thousand people.
The disease is more common in girls than in boys. In this case, if the causes leading to the occurrence of anomalies are superimposed on the existing edema of the brain, the probability of the occurrence of clinical symptoms increases several times.
Dandy Walker syndrome is a priori considered a child pathology, which is revealed even in the period of gestation. Since the diagnosis of the first signs, these babies necessarily become registered in the dispensary.
- Pathogenesis of the disorder
- What provokes a violation
- Clinical picture
- Diagnosis of violation
- What can I do?
- Predicting and consequences of
- Timely detection of pathology
disorder The disease develops in one of the brain regions - 4 ventricles. In this department, liquor fluid accumulates. As a result of the underdevelopment of the cerebrospinal fluidways, there is no passage and excessive accumulation of this fluid.
Under the influence of a large volume of CSF, pressure is exerted on the nearby structures of the brain. In the cavity of the 4 ventricles the nuclei of the cranial nerves come out, and under the influence of high pressure, excitation is transmitted along these nerves, which is fraught with a certain symptomatology.
Constantly accumulating fluid leads to the formation of a cyst in the posterior fossa of the skull, which gradually expands and can reach large dimensions. As a result, the skull deforms, and those brain structures that are located next to the ventricle do not develop fully.
Depending on the violation of the anatomical structure, two forms of pathology are distinguished:
- complete - characterized by complete underdevelopment of the cerebellum worm;
- incomplete - part of the brain has only partial underdevelopment.
Also, the anomaly of Dandy Walker may be accompanied by the development of a dropsy of the brain, but not always the disease will be accompanied by hydrocephalus.
What provokes the violation of
To date, the exact reasons provoking the development of this anomaly have not been established. However, the risk factors for the occurrence of Dandy Walker syndrome are usually attributed:
- transferred viral infections during pregnancy - rubella, measles;
- abuse of harmful habits during pregnancy;
- diabetes in pregnant women;
- pathology of the cerebellum;
- infection of the CSF;
- expansion of the ventricles of the brain;
- availability of cysts.
There are also two theories about the cause of the disease:
- primary underdevelopment of brain structures;
- increased production of liquor fluid during intrauterine development.
Clinical picture of
The syndrome can be detected during pregnancy using the ultrasound method in the fifth month of pregnancy. In this case, the embryo will show such signs:
- cerebellar hypotrophy;
- increase in 4 ventricles;
- cyst in the cranial fossa.
Newborns with Dandy Walker syndrome will experience symptoms such as:
- large head size, it will be disproportionate to the torso;
- thinning and bulging of the bone in the occiput;
- hydrocephalus( not necessary);
- cranial bones are soft;
- large fontanel size;
- weak cry;
- permanent crying due to severe headaches;
- abnormalities in the structure of the facial bones;
- nystagmus - involuntary oscillatory movements of the eyeballs in different directions;
- convulsive tremors of the lower and upper extremities;
- increase of the muscle tone of the limbs, which leads to their rigidity, they are in a bent position;
- slowed development of motility.
Despite the fact that the vice is congenital, very rarely signs of the syndrome can show up at the age of four years or even later.
Also in medicine, exceptional cases were described where Dandy-Walker syndrome manifested itself in adults. In this case, the symptoms will be as follows:
- severe nausea and vomiting;
- increased irritability;
- significant visual impairment;
- change in the shape of the skull - the bones of the occiput begin to protrude;
- impaired coordination, the movements become sweeping, the gait is shaky;
- decrease in intelligence - a person unable to write and read, ceases to recognize relatives.
Very often anomalies are accompanied by various pathologies, among which:
- heart disease;
- kidney dysfunction;
- fusion of the fingers on the legs and hands;
- wolf mouth and hare lip.
How do children with Dandy Walker syndrome look like in life - photos and video materials:
Diagnosis of violation of
Dandy Walker syndrome during pregnancy is diagnosed by ultrasound scanning. After the birth of the child, the diagnosis is performed on the basis of the following methods:
- Collecting anamnesis - at which point the first signs were found - unclear movements, changes in muscle tone, head size increase. An important role is played by the fact that in this family there were cases of the birth of children with this anomaly.
- Neurological examination of - detection of nystagmus - involuntary eye movement in different directions, determination of the level of muscle tone, size of the head.
- Ultrasound examination of the heart - presence of heart disease, aortic narrowing.
- CT and MRI - allow to diagnose an increase in the posterior cranial fossa, enlargement of the fourth ventricle, underdevelopment of the cerebellum, accumulation of fluid in the cavities of the brain.
- In many cases, may require the advice of specialists such as a neurosurgeon and geneticist .
What can I do?
Unfortunately, basically, the treatment of this disease does not make sense, all the procedures that are used in this case will be symptomatic. This pathology has a different degree of severity in each individual case.
In general, children who have a severe form of the disease die within the first month of life. If the anomaly is still compatible with life, the physiological and mental development of the child is considered very problematic.
Mental retardation is not amenable to treatment, motor functions will be violated, i.e. the child is unable to sit and stand unaided. First of all, parents should understand that the baby will have a sufficiently low level of intelligence, which can not be corrected.
In the event that progression of hydrocephalus is observed, surgical treatment is performed by bypassing the 4 ventricles of the brain. This operation is performed to reduce intracranial pressure due to the outflow of cerebrospinal fluid.
During treatment it is necessary to take into account the presence of concomitant pathologies of the heart, kidneys, maxillofacial disorders. They require adequate medical treatment.
For the purpose of correction of hypertension of muscles and motor disorders, medicamentous treatment and physiotherapy are used - physiotherapy exercises, massage.
Prediction and consequences of
Almost in all cases, the prognosis for the further life of a child with Dandy Walker syndrome will be very disappointing. In this case, it will directly depend on the concomitant anomalies in development, chromosomal abnormalities and the period of detection of the disease.
As practice shows, postpartum morbidity in children is equal with the likelihood of a fatal outcome, than when pathology is diagnosed during pregnancy. At the same time, the death rate is very high.
Among the serious consequences can be identified:
- mental and mental defects, which remain intact throughout the life of the patient;
- delayed development of psychomotor;
- pathology of a neurotic character - a high level of muscle tone, a violation of coordination of movements.
Timely detection of pathology
Due to the genetic nature of the disease, it is impossible to prevent its occurrence. However, during the gestation period, it is very important for to carry out the necessary measures to diagnose this syndrome in the embryo.
To this end, a pregnant woman is assigned ultrasound examinations, which should be performed at least once every three weeks. A magnetic resonance imaging procedure is also prescribed to clarify the diagnosis and to identify the localization of the lesion.
In addition, it is mandatory to diagnose the presence of antibodies to such viral diseases as rubella and measles. If such antibodies are detected during the analysis, an ultrasound examination of the fetus is performed to assess the degree of its damage.
It should be remembered that the reception of alcoholic drinks has a very negative role in the prenatal development of the child. Therefore, during pregnancy, you should give up bad habits.