West syndrome (infantile spasms)

What happens in this disease?

In West syndrome, the baby has brief contractions called infantile spasms. These usually begin between 4 and 8 months of age. The EEG shows chaotic, irregular brain waves. In many babies, development slows down or goes backward. A cause is found in most children; the most common cause is tuberous sclerosis.

Which symptoms can occur?

Spasms can easily be mistaken for colic or normal movements.

• Sudden bending forward or stiffening lasting a few seconds
• Contractions coming in clusters, often after waking up
• Slight twitching of the shoulders or eyes
• Irritability, sleep and feeding problems
• Less interest in play and fewer responses
• Loss of skills or developmental delay (in most)

How is it diagnosed?

An EEG is recorded during sleep for the diagnosis. An MRI is done to see the structure of the brain. Blood, urine and genetic tests may be requested to find the cause. It is important not to delay diagnosis and treatment.

Treatment and care

The aim of treatment is to stop the spasms quickly. Hormone or cortisone treatment and an epilepsy medicine are the first options. The medicines stop the spasms in about 7 in 10 children. The ketogenic diet and other epilepsy medicines may also be tried. If there is a structural problem in the brain, surgery may help. Early treatment helps development to be less affected. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

Inheritance depends on the underlying cause. If the cause is tuberous sclerosis, the chance of passing it on is 1 in 2 in each pregnancy. Some gene changes are passed on through the X chromosome. These mostly affect boys. Causes such as lack of oxygen during birth or infection are not inherited. Genetic counselling helps the family understand its risk.