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What

The West syndrome is a form of epilepsy (persistent seizure activity) first described in the late 19th century by observations of an infant with repetitive head “bobbing” movements comprised of rapid head bowing into the knees alternating with immediate relaxation. These movements were later termed infantile spasms and are usually accompanied by poor development.

Who

The frequency of infantile spasms is estimated at 1.5 to 5 cases per 10,000 live births. It is a common cause of epilepsy in the first year of life (25%) and in general comprises 2% of all childhood epilepsies. There is no significant gender difference and no racial preference is known. Most children develop symptoms in the first year of life.

Signs and Symptoms

Children with West syndrome have infantile spasms that are described as rapid, sit-up like movements caused by sudden and rapid contraction of the trunk and limbs that relaxes quickly. These occur in clusters of several dozen usually 20 seconds apart and usually happen before sleep or after awakening. These movements can be of 3 types: flexion (bending forward), extension (bending backward), or mixed (most common). Children also have regression of development milestones, but the physical exam is otherwise normal.

Possible Causes

The potential causes of infantile spasms help classify the West syndrome into three groups: cryptogenic, symptomatic, or idiopathic. In the symptomatic form, a cause is identified and can be anything that results in brain damage. Infections, trauma, bleeding into the brain during or after birth are commonly identified causes. There are many other genetic and metabolic causes. A condition known as tuberous sclerosis is one of the most common causes of infantile spasms prenatally, and is characterized by heart and kidney tumors with a typical rash. Cryptogenic or idiopathic forms usually have no specific cause identified. Most forms of West syndrome do not have an identifiable cause.

Diagnosis

The evaluation of any child with seizures involves obtaining blood tests which include blood counts, electrolytes, and liver function tests. If there is suspicion for infection, cultures from the blood, urine, and spinal fluid will likely be obtained, which will help in identifying any infection, if it is present. A metabolic evaluation involving specialized urine and blood tests is also common. An electroencephalogram (EEG, a measurement of the electrical activity in the brain) demonstrating a typical pattern of abnormal electrical activity known as hypsarrythmia is a key finding in making the diagnosis. Close to 80% of patients have abnormalities on studies such as CT and MRI scans. These scans may help to identify a cause in some patients.

Treatment

The goal of treatment is to maximize seizure free intervals while minimizing drug toxicities. Multiple medicines are usually needed to control seizures and are separated into first versus second-line treatment. First-line treatments include medications such as: vigabatrin, ACTH, B-6 and prednisone while valproic acid, lamotrigine, and benzodiazepines round out the second-line agents. In limited cases, a special diet known as the ketogenic diet and surgical intervention can also help.

Prognosis

The long-term prognosis is variable depending upon the response to medicines and other interventions. Many children do not develop normally. If causes can be found and treated, affected children may have a better outcome. Adequate control of the seizures and treatment of infections is important. A minority of children may die from infection or uncontrolled seizures

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

West Syndrome Support Group
Support group website for parents maintained by parents.

Eddie’s Story
Inspiring website documenting one child’s struggle.

The Family Village
Great website for useful links.

Yahoo Groups for infantile spasms
Great site to initiate chats with other parents.

National Institute of neurological disorders and stroke
National organization that provides reliable medical information

Contact A Family
Good family based website.

Google Search for West Syndrome

References and Sources

EMedicine article: Tracy A. Glauser www.emedicine.com/neuro/topic171.html by Dr. Tracy A. Glauser