Dandy-Walker syndrome is a brain dysfunction that occurs in one out of 30,000 live births. Named after Walter Dandy and Arthur Earl Walker, this genetically sporadic disorder can appear suddenly, or it can go unnoticed for years. It begins in infancy and pre-natal testing has often shown symptoms of it, leading to a dilemma in the minds of the parents-to-be.
This syndrome involves the cerebellum – the back area of the brain that is responsible for controlling movement, and all the spaces around it which are filled with fluid. The enlargement of the fourth ventricle, which is responsible for the free flow of fluid between the spinal cord and the upper and lower areas of the brain, is one of the main features of this syndrome. The syndrome also manifests itself in the formation of a cyst near the internal base of the skull and an absence of the cerebellar vermis – the area between the two cerebellar hemispheres. The cyst damages a part of the brain that helps a person control his movements, and also his cognitive learning abilities. It starts during brain development before the birth of the child, and the reasons behind this are still not known. Recent research has shown that a gene may be the cause behind the syndrome, but further research is still continuing.
The most severe form of the syndrome is DWS malformation. This can show itself in the enlarged posterior fossa, hydrocephalus and spina bifida. The DWS variants are usually seen in patients who do not have severe malformations and who only have a mildly enlarged fourth ventricle. Hydrocephalus is evident in only 25 % of the cases. People with the DWS variants have been known to live much longer, and have also learnt to adjust to the syndrome with regular treatment.
The first symptoms of the syndrome manifest in the first year of the child, and over 80 % of the cases are diagnosed during infancy. The symptoms include:
Children with the Dandy-Walker syndrome may also show other problems such as kidney and urinary tract disorders, heart ailments and oral-facial clefts.
Diagnosis of this syndrome is done through an antenatal ultrasound and also through a comprehensive MRI Scan. The scan can help observe all the malformed lesions and complications in the body, and it can help with making a detailed evaluation.
Treatment for the syndrome generally consists of treating the associated problems. Seizure management is one main treatment procedure that are followed by the doctors. Doctors also recommend the placing of a special tube (known as a stent) inside the skull, to drain out the excess fluid that may have been accumulated, so that the pressure can be reduced and excess swelling can be decreased. Doctors will follow a treatment plan based upon the allied problems, such as headaches, vomiting and lack of motor coordination. They also recommend genetic counselling if the parents are planning to have children in the future. Physiotherapy, occupational therapy, vision therapy (especially if the eyes are affected) and speech therapy are also part of the treatment process.
Dandy-Walker syndrome is one of those emerging diseases that are grouped under the diseases, known as ciliopathies. Research has proven that even though the symptoms may vary, these nervous disorder syndromes are associated with each other and can be inter-related. Hence, the treatment can encompass the many side problems that are a part of this syndrome.
A diagnosis of the syndrome can be scary for the parents. Often, the diagnosis is made while the pregnancy is still on, and if it is a greater degree malformation, the parents are offered the option of terminating the pregnancy. It is not an easy decision to make and since the diagnosis is generally made only after a few months post pregnancy, it becomes even harder to understand or deal with the difficult choice. Infants with severe cases of a Dandy-Walker syndrome malformation are born with too many allied complications, and are often unable to go past their infancy.
Children with the syndrome need special care, since their motor skills are impaired. The stunt does relieve pressure and make life easier for them, but the choice of treatment is based upon whether it is a Dandy-Walker malformation or a variant. There are many proven cases where the treatment of the syndrome variants from an early age has led to children growing into adults with a fairly happy and normal existence, to some extent. The various types of therapies available and the special educators help to make the adjustment easier. Even though there may be frequent cases where stents may have to be replaced or where surgeries may be required, yet people have learnt to live with this syndrome.
There is a great deal of research going on in this field. The research is focused on the genetic causes behind the syndrome, and on how to prevent and cure it. Special educators are working on systems whereby DWS patients can adjust better and live a normal life, as far as possible. In the medical field, they are working on better ways to control the fluid excesses in the brain and processes, whereby reduced mobility can be avoided.