Dandy-Walker syndrome is a complex developmental defect of the central nervous system, which is mainly related to incomplete education of the cerebellar worm. Symptoms such as hydrocephalus, abnormal muscle tone or nystagmus may occur in the course of the disease. Quite often, patients also suffer from ailments from other systems than the nervous system, such as, for example, heart defects or eye abnormalities. What causes Dandy-Walker Syndrome and how is it treated?

Contents:

  1. Dandy-Walker syndrome - causes
  2. Dandy-Walker syndrome - types of the defect
  3. Dandy-Walker syndrome - symptoms
  4. Dandy-Walker syndrome - other anomalies
  5. Dandy-Walker syndrome - diagnosis
  6. Dandy-Walker syndrome - treatment
  7. Dandy-Walker syndrome - prognosis

Dandy-Walker syndrome(Dandy-Walker sydrome) has been present in medical literature for a relatively long time - the first descriptions of related ailments appeared in literature already at the end of the 19th century.

A closer look at this unit, however, was not until the next century - in 1914, in his works, irregularities related to the disease were described by W alter Dandy and his colleague, and in 1942, more detailed descriptions of the anatomical deviations related to it were published, together with another author , Arthur Walker.

Ultimately, the name of the Dandy-Walker syndrome was proposed in 1954 by a German psychiatrist, Clemens Benda, and the individual is referred to by this name to this day.

Dandy-Walker syndrome, according to statistics, affects one in 25,000 to 50,000 live births. It is reported to be slightly more common in girls.

Dandy-Walker syndrome - causes

The basic abnormalities associated with the disease are underdevelopment of the cerebellar worm, dilatation of the fourth ventricle, presence of cysts in the posterior cranial cavity, and elevation of the cerebellar tent and cerebral sinuses.

What are the exact reasons for these irregularities? Until today, it has not been possible to clearly establish.

Most likely the disease is caused by disturbances in the processes of migration andcentral nervous system cell differentiation that takes place relatively early, around 5–6. week of gestation.

Theories about the pathogenesis of the syndrome focus primarily on the participation of various genes in its development. Sometimes a familial occurrence of this individual is observed - then it is inherited it is autosomal recessive.

The coexistence of Dandy-Walker syndrome with other genetic diseases, incl. with PHACE association, Edwards syndrome and Patau syndrome.

Dandy-Walker syndrome - types of the defect

Due to what exactly the abnormalities appear in the patient, there are several different types of disease, which are:

  • typical Dandy-Walker syndrome, Dandy-Walker malformation (described above),
  • variant of Dandy-Walker malformation (Dandy-Walker variant, where there is underdevelopment of the cerebellum, its worm and expansion of the IV ventricle, without the simultaneous widening of the hindbrain structures),
  • enlarged great reservoir (called mega cisterna magna, where the great reservoir is widened, and at the same time the IV chamber and the cerebellar worm are of correct structure).

Dandy-Walker syndrome - symptoms

The most characteristic abnormality of Dandy-Walker syndrome is hydrocephalus, which occurs in up to 80% of patients with the typical form of the disease.

It typically develops in the first year of a patient's life, usually within three months of being born. The signs that a child has hydrocephalus may include :

  • increased head circumference
  • vomiting
  • excessive sleepiness
  • irritability
  • seizures

As time passes by, patients develop more and more symptoms of Dandy-Walker syndrome. First of all, there are various neurological symptoms, such as:

  • abnormal muscle tone (it can be both weakened and increased muscle tone)
  • nystagmus
  • speech disorder
  • gait disturbance
  • imbalance
  • breathing disorders (appearing in those patients with damage to the breathing center in the brainstem)

It should also be mentioned here that in most patients with Dandy-Walker syndrome their psychomotor development slows down, moreover, about half of the patients ultimately have an intellectual disability.

Dandy-Walker syndrome - other anomalies

Patients with Dandy-Walker syndrome, apart from neurological symptoms, often struggle with many other problems from other organs. The most common pathologies that coexist with the defects of the nervous system include:

  • heart defects (e.g. patent ductus arteriosus, aortic coarctation, atrial septal defects)
  • eye diseases (including cataracts, optic nerve dysplasia or myopia)
  • mental disorders (which may be behavioral disorders, but also bipolar disorder, psychotic disorders and hyperkinetic disorders)
  • posture defects (e.g. scoliosis)

Dandy-Walker syndrome - diagnosis

In a patient with suspected Dandy-Walker syndrome, the most important thing is to perform head imaging examinations - computed tomography or magnetic resonance imaging.

Their results make it possible to detect abnormalities in the anatomy of the nervous system characteristic for this individual, and in addition, these tests are also important for determining the course of treatment.

Most often, Dandy-Walker syndrome is diagnosed after the baby is born, but it is sometimes possible to find the disease in the period of intrauterine life - an ultrasound may even be used for this purpose, but the preferred examination is fetal magnetic resonance, which allows for a much more accurate imaging of the structures of the central nervous system.

Dandy-Walker syndrome - treatment

In the treatment of Dandy-Walker syndrome, the most important thing is to control possible hydrocephalus - the problem may result in an increase in intracranial pressure, which may cause permanent damage to the nerve tissue.

To prevent such threats, surgical treatment is used, typically based on the introduction of a valve in the patient, which will drain the excessive amount of cerebrospinal fluid from the inside of the skull.

Sometimes neuroendoscopic ventriculostomy of the III ventricle is used - this method allows the patient to avoid the introduction of a valve to drain excess fluid, but it has some limitations (it is rarely effective, for example, in patients with congenital non-communicating hydrocephalus).

Other therapeutic effects implemented in patients with Dandy-Walker syndrome depend on exactly what problems arise in them.

Regular rehabilitation and early development support are recommended for patients.

If they suffer from, for example, heart defects, it may be necessary to have themsurgical correction.

Dandy-Walker syndrome - prognosis

The prognosis of patients with Dandy-Walker syndrome depends primarily on two aspects: whether they develop hydrocephalus and whether it is properly treated, and what additional defects will occur in the patients.

Overall, perinatal mortality for this unit ranges from 30% to just over 50%.

Long-term prognosis - due to the diversity of the clinical picture - is very difficult to estimate.

About the authorBow. Tomasz NęckiA graduate of the medical faculty at the Medical University of Poznań. An admirer of the Polish sea (most willingly strolling along its shores with headphones in his ears), cats and books. In working with patients, he focuses on always listening to them and spending as much time as they need.

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Category:

Genetic diseases