Hydrocephalus

Hydrocephalus - symptoms, diagnosis, treatment

What is hydrocephalus? A disturbance in the balance between the formation, circulation and resorption of cerebrospinal fluid (liquor) can lead to the development of a pathological condition called hydrocephalus.

The term hydrocephalus is derived from Greek Nudro - water and cephalon - brain, literally translated as “cerebral hydrocephalus”.

Depending on the time of development of this condition, congenital and acquired hydrocephalus are distinguished. Hydrocephalus that occurred during intrauterine development is called congenital, fetal or fetal hydrocephalus. On average, congenital hydrocephalus is diagnosed in 0.5-3 cases per 1000 newborn babies.

What is the danger of hydrocephalus?

Excessive accumulation of liquor leads to expansion of the liquor spaces of the brain, compression and dislocation of brain tissue, which as a result leads to disruption of metabolic processes and trophism of brain structures. These changes in general have an extremely unfavorable effect on the development of the fetus, and, subsequently, on the condition of the child.

Causes of congenital hydrocephalus

All the variety of causes of congenital hydrocephalus can be divided into three groups:
1.Developmental malformations of the CNS and liquorodynamic pathways
2.Intrauterine infections
3.Chromosomal anomalies

Causes of congenital hydrocephalus:

Stenosis of the cerebral aqueduct, due to infection, tumor growth, or intraventricular hemorrhage.
X-linked hydrocephalus with stenosis of the Sylvian aqueduct (genetic X-linked disease). It is a fairly rare disorder. However, it occurs in 5% of newborn babies with hydrocephalus.
Other chromosomal anomalies: trisomy 18, 21 pairs of chromosomes, etc.
Chiari malformations of type I, II and III. This group includes malformations of brain structures, in which there is an incorrect position of the cerebellum and a violation of the structure of the brain stem.
Myelomeningocele (neural tube development defect). A defect in the spinal canal, through which the brain sheaths, the unformed spinal cord itself, and the roots of the spinal cord exit. Another name for this condition is a spinal hernia.
Tumors of the posterior cranial fossa and tumors of the ventricles of the brain.
Arachnoid cyst.
Dandy-Walker syndrome. Refers to malformations of the posterior cranial fossa. It can develop both against the background of genetic diseases, and under the influence of toxic and infectious factors. The syndrome includes hydrocephalus, a cyst of the posterior cranial fossa, a violation of the structure and development of the cerebellum.
Intrauterine infections: cytomegalovirus infection, rubella, parainfluenza, varicella. As a result of viral infections, arachnoiditis (inflammation of the cerebral spider web) with impaired liquor dynamics is formed.

Diagnosis of congenital hydrocephalus.

Enlargement of the brain ventricles (as one of the signs of hydrocephalus) can be detected during a fetal ultrasound scan (ultrasound). The diagnosis of hydrocephalus can be suspected at the end of the first trimester (at 13 weeks). However, it is possible to speak more clearly about the expansion of the ventricles of the brain at 20-24 weeks of intrauterine development.

Further tactics of doctors. Increased brain ventricles in the fetus is a signal to the specialist about the need for a more detailed study: search for ultrasound signs of combined anomalies of CNS development and other possible causes of hydrocephalus. In some cases, additional invasive studies are performed, such as amniocentesis (puncture of the fetal membranes), with the collection of material to determine the level of alfafetoprotein and study the chromosomal set of the fetus. The condition of the pregnant woman and the fetus with hydrocephalus is monitored by a team of specialists: an obstetrician-gynecologist, a geneticist and a pediatric neurosurgeon.

Treatment Options

Treatment of fetuses and children with hydrocephalus always involves certain risks and difficulties. In decision-making and choice of tactics plays a major role in the main disease or syndrome against which the formation of hydrocephalus occurred. Thus, gross malformations of the brain may be an indication for termination of pregnancy.

All methods of treatment can be divided into conservative and surgical. Depending on the cause of congenital hydrocephalus, its severity and the condition of the child, treatment may begin with conservative methods: prescription of diuretics and drugs that reduce the production of liquor, drugs that improve brain metabolism, antihypoxants, etc. One of the surgical methods of treatment of hydrocephalus is shunt surgery. The essence of the method is the application of a shunt (a system of tubes and valves), through which “excess” liquor is drained into the natural cavities of the body: the abdominal cavity, the cavity of the right atrium, etc. The timing of such operations is determined by a neurosurgeon based on the condition of the child and the cause of hydrocephalus. According to experts, the earlier such treatment is performed, the better the results of treatment. In most cases, the shunt is installed for life, does not solve the problem of the underlying disease, but allows the brain structures to develop.

Operations performed intrauterine.

The technical feasibility of fetal shunt placement is currently being investigated. However, so far these operations are experimental. The potential complications of intrauterine intervention in most cases outweigh the possible benefits of such treatment.

Therapeutic tactics.

Since the first detection of the expansion of the brain ventricles in the fetus, specialists conduct dynamic observation of the state of the fetal brain structures. If hydrocephalus does not progress and the fetus develops normally, specialists wait until the birth of the baby and, if necessary, perform shunt surgery. In the case of progressive ventriculomegaly (enlargement of the brain ventricles), a caesarean section is performed at 35 weeks gestation and shunt surgery is performed postnatally (after birth).

Q&A

- At 30 weeks, an ultrasound scan revealed enlarged brain ventricles and fetal hydrocephalus. What should we do?
- Mom should be registered with a perinatal geneticist, for further research (search for the cause of hydrocephalus, possible genetic and chromosomal diseases). Detailed ultrasound examination should be carried out by a doctor of ultrasound diagnostics, with specialization of perinatal geneticist. It may be necessary to repeat ultrasound in dynamics. Mom can apply to leading clinics in Germany and Israel to conduct a more accurate examination and determine further treatment tactics. Doctors with extensive experience working with children suffering from hydrocephalus will conduct diagnosis in the shortest possible time, as safe as possible for the child and mother.

- At 29 weeks, we were diagnosed with dilated brain ventricles and the preliminary conclusion was fetal hydrocephalus. We are currently undergoing further examinations to find the cause of this condition. What is the risk of hydrocephalus for our baby?
- It is difficult to answer the question unequivocally, as there is no complete data. Hydrocephalus itself leads to compression of brain structures and disruption of metabolic processes in the brain. Children with hydrocephalus may have certain neurological symptoms (hypertonicity, regurgitation, restlessness), in severe cases, children may have seizures. Such babies worse master motor and mental skills, there may be an intellectual deficit. In order to maximize help to the child and level out the possible consequences of hydrocephalus, the mother is recommended to register with a perinatal geneticist and consult with a pediatric neurosurgeon. Diagnosis and treatment of congenital hydrocephalus is performed by qualified specialists from leading clinics in Germany and Israel. Parents can get a remote consultation service (based on ultrasound and test results), as well as a “second opinion” of a specialist.