What is Dandy-Walker Syndrome? – Everything you need to know

Dandy-Walker Syndrome. What is it? What are the symptoms? What are the causes? What is the prognosis? Is it treatable?

The National Institute of Neurological Disorders and Stroke (NINDS) defines Dandy-Walker Syndrome as ‘a rare congenital brain malformation involving the cerebellum (an area of the back of the brain that coordinates movement) and the fluid-filled spaces around it.’(1)  

Dandy-Walker Syndrome or DWM is characterised by underdevelopment of the middle part of the cerebellum known as the cerebellar vermis, cystic enlargement of the 4th ventricle and enlargement of the base of the skull.(2)

DWS affects approximately 1 per 25,000-35,000 live births

Dandy-Walker Syndrome diagnosis/prognosis

DWS affects 1 per 25,000-35,000 live births and occurs predominately in females. Symptoms typically occur in early infancy and most will experience a build-up of fluid in the brain, along with a rapid increase in head size with bulging at the back of the skull(5). It can be detected with an ultrasound CT and MRI(2) but 10-20% of individuals with DWS may not begin noticing symptoms until adulthood(5).

Occurs predominately in females

The exact cause of DWM is unknown, but it is thought that genetics or environmental factors can contribute and the prognosis can vary from person to person.(3)

Some children have normal cognitive development while others may never have normal intellectual development. One study showed that mortality is significantly high (ten-fold) in children with DWS, but surgical drainage procedures can help halve the risk.(5)

Symptoms of Dandy-Walker Syndrome

Symptoms in infants include developmental delays such as sitting or walking later than the average child and low or high muscle tone. Older children may experience irritability, vomiting, jerky movements of the eyes and poor coordination/balance. Other symptoms may include an increase in the size and pressure of fluid spaces surrounding the brain, bulging at the back of the skull(3) and problems with the nerves that control the eyes, face and neck, as well as abnormal breathing patterns.(4)

Is it treatable?

In terms of treatment, a shunt may be needed to drain excess fluid in the brain and various forms of therapy, such as physical therapy, to help keep muscle strength and flexibility, and occupational therapy, to learn new ways of performing daily activities, may also be recommended. However, there is no cure.(1)

There are several clinical trials taking place in the U.S that are currently recruiting for study participants. A full list can be found here and here.

For support visit Dandy-Walker Alliance – http://dandy-walker.org/

References:

1. https://www.ninds.nih.gov/Disorders/All-Disorders/Dandy-Walker-Syndrome-Information-Page
2. https://rarediseases.org/rare-diseases/dandy-walker-malformation/
3. https://rarediseases.info.nih.gov/diseases/6242/dandy-walker-complex
4. http://dandy-walker.org/  
5. https://patient.info/doctor/dandy-walker-syndrome