Dandy Walker malformation: causes, symptoms and treatment

Congenital diseases occur during the intrauterine development of the baby. In this article we will talk about one of them: Dandy Walker’s malformation, Which affects the cerebellum and surrounding areas 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 identify it. Detecting this malformation early can be essential for the survival of the baby.

What is Dandy Walker’s Deformity?

Dandy Walker syndrome is a brain disorder that occurs during embryonic development. More precisely, they occur malformations of the cerebellum, at the base of the skull and in the fourth ventricle.

The cerebellum is located at the bottom of the brain. It is involved in the control of movement, cognition, attention and learning. Damage to the cerebellum often impedes movement, balance and motor learning.

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

Dandy Walker Malformation it occurs in 1 in 30,000 births approximately, and is responsible for 4 to 12% of cases of infantile hydrocephalus. It is more common in girls than in boys.

about 70% of babies with this syndrome die. However, the prognosis varies depending on the intensity of the alterations. While some affected children develop normally in the cognitive zone, others may have very severe impairments and all after treatment.

    Symptoms and signs

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

    Dandy Walker Malformation frequently causes hydrocephalus, A disorder in which cerebrospinal fluid builds up in the brain increasing cranial pressure, inflaming the head and damaging the brain.

    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 with the following associated signs and symptoms:

    • Muscular atrophy
    • Altered muscle tone
    • Discoordination and imbalance (ataxia)
    • Delay in motor development
    • Cognitive deficits
    • Increased intracranial pressure
    • Nystagmus (uncontrollable eye movements)
    • seizures
    • Headache
    • vomiting
    • respiratory arrest

    Causes of this syndrome

    Dandy Walker’s malformation is caused by alterations in the development of the cerebellum and surrounding areas during early pregnancy. Specifically, this syndrome has been associated with the deletion, absence and duplication of certain chromosomes.

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

    These genetic factors are multiple and can interact with each other and lead to various alterations in the posterior fossa.

    Environmental factors may also be relevant in the development of this disorder, although they appear to carry less weight than biological factors.

    related disorders

    Posterior fossa malformations are generally classified as Dandy Walker syndrome, although there may be varying alterations depending on the areas affected.

    A similar disorder is what we call a “variant of Dandy-Walker syndrome”; this category includes conditions of the region of the cerebellum and the fourth ventricle which are not strictly classifiable as a Dandy-Walker malformation.

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

    Other diseases nearby are the ciliates, which they affect the intracellular organelles called cilia. Ciliopathies are caused by genetic defects and cause multiple diverse alterations in bodily development, including those typical of Dandy-Walker.

    Intervention and treatment

    Hydrocephalus is treated by draining the affected areas of the brain in an assisted manner: a tube is surgically inserted to redirect cerebrospinal fluid to areas 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 done with the aim of reducing the size of the ventricular cyst and therefore reducing the symptoms.

    Motor therapy and language rehabilitation they are essential in helping children with this disease. Support from families is also essential to ensure the well-being and healthy development of children.

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