Here, we review the Dandy Walker malformation and its implications on life expectancy. The disease is also referred to as Dandy-Walker Syndrome, as it is accompanied by symptoms in addition to a malformation at the rear of the brain.
This hereditary condition is diagnosed by carrying out an MRI scan or a CT scan in hospital, or by an angiography - a special procedure that uses a catheter, guided by x-ray imaging and with the injection of medical dye) to examine the affected area for abnormalities. Alternatively, in antenatal ultrasound scans, the condition can be detected in an unborn foetus. Dandy-Walker malformation is associated with the rear part of the human brain, an area that controls movement.
Many patients and relatives of those with this syndrome have questions and concerns about quality of life, as well as average life expectancy. If an individual is affected by Dandy Walker syndrome, it is likely that he or she will have a dependent life, with the possible exception of the mildest cases. Reports from medical research and investigations have shown that longevity is linked to the degree and extent of signs and symptoms in each individual case of the syndrome.
Dandy-Walker Syndrome is quite rare, occurring in only one birth per 25,000 to 35,000. Although there are no proven factors that are known to directly cause the syndrome, medical investigators suspect that certain other diseases may combine with environmental factors to predispose towards (increase the probabilities of) brain development being affected. These aggravating factors which may increase the chances of the disease occurring are thought to include:
If the condition develops during infancy, motor skills (arm and leg movement etc.) may be affected and the skull may become enlarged. Intellectual development may be affected in some cases.
As yet, there is no cure for the condition or specific treatment other than dealing with the possible symptoms as and when they present themselves. In mild cases, the condition may present itself with headaches of varying degree. Patients with mild cases may be able to live a relatively normal life, perhaps with extra support as and when necessary.
In severe cases, the aim is to keep the patient as comfortable as possible and to maximise his or her quality of life. For these patients, symptomatic treatment also centres on dealing with any possible complications. The adjacent spaces inside the skull are usually filled with fluid but in patients with Dandy Walker syndrome, these fluid-filled spaces may build up pressure, necessitating an operation to drain some away. The surgical operation is an invasive procedure using a shunt to remove the excess fluid and control swelling.
As well as headaches (which may be severe), symptoms can also include loss of mobility and, sometimes, speech. Lifespan depends on how notable the symptoms and malformations are; if there are multiple malformations, lifespan may be reduced. Quality medical care can significantly increase quality of life.
When the condition presents severely, the expected life expectancy prognosis is at the shorter end of the range. In particular, with complications or severe manifestations of the disease, the individual's life expectancy may be reduced due to the likelihood of seizures, a commonly occurring result of the syndrome. These can cause escalating difficulties for acute patients, with possible lifelong complications and increased mortality.