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Dandy Walker malformation: causes, symptoms and treatment

Dandy Walker malformation: causes, symptoms and treatment

January 29, 2023

Congenital diseases occur during the intrauterine development of the baby. In this article we will talk about one of them: the malformation of Dandy Walker , which affects the cerebellum and nearby regions and produces severe symptoms such as hydrocephalus.

We will explain what they are the causes of this syndrome and what signs and symptoms can help to identify it . The early detection of this malformation can be fundamental to ensure the survival of the baby.

What is the malformation of Dandy Walker?

Dandy Walker syndrome is an encephalic disorder that occurs during embryonic development. In particular, they are produced malformations in the cerebellum, at the base of the skull and in the fourth ventricle.

The cerebellum is located in the lower part of the brain. He is involved in the control of movement, cognition, attention and learning. Damage to the cerebellum often hinders movement, balance and motor learning.

The cerebral ventricles are cavities of the brain through which the cerebrospinal fluid circulates, which cushions blows to the head and transports nutrients to the brain, among other functions similar to those of blood plasma. The fourth ventricle connects the brain to the central duct of the spinal cord.

The malformation of Dandy Walker occurs in 1 in 30 thousand births approximately, and is the cause of between 4 and 12% of cases of infantile hydrocephalus. It is more common in girls than boys.

Approximately 70% of babies with this syndrome die . However, the prognosis varies according to the intensity of the alterations. While some affected children develop normally in the cognitive area, others may have very severe affectations even after treatment.

  • Related article: "Human cerebellum: its parts and functions"

Symptoms and signs

The three main manifestations of the alterations in the posterior fossa are the underdevelopment of the cerebellar vermis , which connects the two hemispheres of this structure, the cystic dilation of the fourth ventricle and the increase in the size of the posterior cerebral fossa, located at the base of the skull.

The malformation of Dandy Walker frequently causes hydrocephalus , a disorder in which the cerebrospinal fluid accumulates in the brain increasing the cranial pressure, inflaming the head and damaging the brain.

The symptoms of this disease vary depending on the severity of the case and the age. In addition to hydrocephalus, girls and boys diagnosed with Dandy Walker usually present The following associated signs and symptoms :

  • Muscular atrophy
  • Alteration of muscle tone
  • Discoordination and lack of balance (ataxia)
  • Delay in motor development
  • Cognitive deficits
  • Increase in intracranial pressure
  • Nystagmus (uncontrollable movements of the eyes)
  • Convulsive crisis
  • Headache
  • Vomiting
  • Respiratory failure

Causes of this syndrome

The malformation of Dandy Walker occurs due to alterations in the development of the cerebellum and the surrounding areas during early pregnancy. Specifically, this syndrome has been associated with the suppression, absence and duplication of some chromosomes .

Genetic components have been found related to these alterations, possibly linked to the X chromosome or consisting of autosomal recessive inheritance. The risk of recurrence in children of women who have already had babies with Dandy Walker is between 1 and 5%.

These genetic factors are multiple and they can interact with each other, as well as give rise to different alterations of the posterior cerebral fossa.

Environmental factors may also be relevant in the development of this disorder, although they appear to have a lower weight than that of biological factors.

Related disorders

Normally the malformations of the posterior cerebral fossa are classified within the Dandy Walker syndrome, although there may be various alterations depending on the affected areas.

A similar disorder is what we know as "variant of Dandy-Walker syndrome"; This category includes conditions of the cerebellum and fourth ventricle that are not strictly classifiable as Dandy-Walker malformation.

In these cases the signs and symptoms are less severe: generally the posterior fossa and the fourth ventricle are less enlarged and the encysted part is also smaller. In the variant of the Dandy-Walker syndrome, hydrocephalus is less frequent.

Other nearby diseases are ciliopathies, which affect the intracellular organelles called cilia . The ciliopathies are caused by genetic defects and cause multiple alterations in body development, including those that are specific to Dandy-Walker.

Intervention and treatment

Hydrocephalus is treated by draining affected areas of the brain in an assisted manner: a tube is surgically inserted to redirect cerebrospinal fluid to regions where it can be reabsorbed.

Another method that has recently been used in the treatment of Dandy Walker syndrome is the puncture of the third ventricle. This is carried out with the aim of decreasing the size of the ventricular cyst and thus reduce the symptoms.

Motor therapy and linguistic rehabilitation They are essential to help children with this disease. The support of families is also key to ensure the welfare and proper development of children.

What is Dandy Walker Syndrome? (January 2023).

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