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What are the symptoms of Dandy-Walker syndrome in adults?

Humans are indeed a marvel creature. What makes a human different from animals is the brain capacity and function. A good brain function does not only help the body to function properly but also for humans to have a good life by managing many tasks and to achieve many things in their life. Regular health screening is important to ensure that all the body functions including the brain does not have serious problems and even if it does, health screening can help patients to receive early treatment or interventions from healthcare professionals. There are many conditions affecting the brain but the one we will be focusing on is Dandy-Walker syndrome.

Dandy-Walker syndrome is a neurological disorder caused by unusual formation between the cerebellum and the fluid-filled spaces around it. In other words, Dandy-Walker syndrome is hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain) with a posterior fossa cyst (fluid filled sacs located near the brainstem and cerebellum) and abnormal development of the brain cerebellum. Such malformation occurs when openings that enable the cerebrospinal fluid to flow into the space capsulating the brain surface, fail to open. At times, it may be caused by the absence of the corpus callosum, which is the area connecting the two sides of the brain and made up of nerve fibres.

Dandy-Walker syndrome is estimated to affect 1 in 10 000 to 30 000 newborns. This means that Dandy-Walker syndrome is a rare condition. These malformations is responsible for 1 to 4% of hydrocephalus case. Some health institutions estimated mortality rate of 12 to 50%. This is caused by other presence of abnormalities outside the brain and spine (central nervous system). Thus, it is best for patients suspected of Dandy-Walker Syndrome to get treatment as it can improve life expectancy.

There are a number of causes that are responsible for Dandy-Walker Syndrome. One of them is genetic mutations and chromosomal abnormalities that lead to congenital abnormalities. Environmental factors may actually be causing the abnormal brain conditions. Examples are exposure of a fetus to substances that cause birth defects (teratogens) or a mother with diabetes. Although, some cases may not even have specific causes or associated with health problems. This is known as an isolated feature.

Knowing the symptoms can help identify the problem early and for the child to get treatment needed. Symptoms in babies include progressive growth of the skull and slow development of motor skills (ability to control movement). These symptoms usually occur in their first months of life. In older children, feeling irritable, vomiting, difficulty to control movement or balance, unusual eye movement and an increased pressure in the skull. Dandy-Walker syndrome can cause unusual development of the head, face, heart, arms or legs. Even so, some children may not have any symptoms.

You may wonder, do adults have Dandy-Walker syndrome? Yes, adults may have it but it is usually because it goes unnoticed even if brain abnormalities have existed since birth. Adults usually have no symptoms. Dandy-Walker syndrome in adults is usually found accidentally when doctors perform brain imaging tests for other health problems. Thus, there are no specific symptoms of Dandy-Walker syndrome in adults which is in contrast with children. Although, some patients might complain of persistent headaches.

Doctors usually diagnose Dandy-Walker Syndrome based on imaging tests. The test will depend on the pregnancy. For example, ultrasound is typically the first imaging test to assess fetal brain and skull whereas MRI may be helpful after the 20th week of pregnancy should ultrasound not give sufficient information on the fetal brain and skull. Beside looking for the brain and skull abnormalities, doctors usually look for other possible associated abnormalities.

Treatment is focused on symptoms. Main treatment is to make shunt to allow proper flow of the cerebrospinal fluid. Shunt surgery is a procedure that inserts a tube to assist fluid drainage into other parts of the body to enable fluid absorption. This is common in patients who are presented with signs and symptoms from the increased pressure inside the skull caused by the hydrocephalus and posterior fossa cyst. Other treatment includes supportive approaches such as special education, physical therapy and specific services to cater for medical and social aspects.

Genetic counselling is recommended for families that have children with Dandy-Walker Syndrome. It is recommended for such families to take part as to evaluate the risk for future pregnancy since Dandy-Walker Syndrome itself is related to inherited disorders. Dandy-Walker Syndrome may not be totally prevented but there are measures you can take to reduce the risk. It is very important to consult with a doctor on what to do to reduce risks for the Dandy-Walker Syndrome which includes avoiding medications or chemicals that could affect the developing fetus. Pregnant mothers should always check with their doctor as scheduled by their healthcare provider and take steps in ensuring a healthy pregnancy.

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