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 malformationwhich affects the cerebellum and nearby regions and produces serious symptoms such as hydrocephalus.
We will explain what they are the causes of this syndrome and what signs and symptoms can help identify it. Early detection of this malformation can be essential to ensure the survival of the baby.
Dandy Walker syndrome is a brain disorder that occurs during embryonic development. Specifically, they produce 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. It is involved in the control of movement, cognition, attention and learning. Damage to the cerebellum often makes movement, balance, and motor learning difficult.
The cerebral ventricles are cavities of the brain through which 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 canal of the spinal cord.
The Dandy Walker malformation occurs in 1 in every 30 thousand births approximately, and is the cause of between 4 and 12% of cases of childhood hydrocephalus. It is more common in girls than in boys.
Approximately 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 area, others may have very severe impairments even after treatment.
The three main manifestations of alterations in the posterior fossa are underdevelopment of the cerebellar vermiswhich 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 Dandy Walker malformation frequently causes hydrocephalusa disorder in which cerebrospinal fluid builds up in the brain, increasing cranial pressure, swelling the head, and damaging the brain.
The symptoms of this disease vary depending on the severity of the case and age. In addition to hydrocephalus, girls and boys diagnosed with Dandy Walker usually present the following associated signs and symptoms:
Causes of this syndrome
Dandy Walker malformation occurs due to alterations in the development of the cerebellum and surrounding areas during early gestation. Specifically, this syndrome has been associated with the deletion, absence and duplication of some chromosomes.
Genetic components related 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 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 seem to have less weight than biological factors.
Related disorders
Normally, malformations of the posterior cerebral fossa are classified within Dandy Walker syndrome, although there may be various alterations depending on the affected areas.
A similar disorder is what we know as “variant Dandy-Walker syndrome”; This category includes conditions of the region of the cerebellum and the 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 cystic part is also smaller. Hydrocephalus is less common in the Dandy-Walker syndrome variant.
Other nearby diseases are ciliopathies, which They affect intracellular organelles called cilia. Ciliopathies are caused by genetic defects and cause multiple and diverse alterations in body development, which may include 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 regions where it can be reabsorbed.
Another method that has recently been used in the treatment of Dandy Walker syndrome is puncture of the third ventricle. This is carried out with the aim of reducing the size of the ventricular cyst and thus reducing symptoms.
Motor therapy and linguistic rehabilitation They are essential to help children with this disease. Family support is also key to ensuring the well-being and correct development of children.
