West syndrome is a difficult-to-treat generalized malignant form of epilepsy. It occurs in infants between three and twelve months of age.
What is West syndrome?
West syndrome was named after William James West, an English physician and surgeon. He observed the first epileptic seizures of this type in 1841 in his four-month-old son and then described the condition in scientific terms. As synonyms for the term West syndrome, the expressions malignant infantile epilepsy or BNS epilepsy are also used as abbreviations for Blitz-Nick-Salaam epilepsy. Malignant infantilepsy is thought to be due to organic brain damage that occurred before birth, during birth, or after birth. Generalized epileptic seizures are characteristic of West syndrome. The disorder occurs in one in 4000 to 6000 children. Boys are affected more often than girls. In 90 percent of affected children, the seizures occur for the first time within the first twelve months after birth. The peak of manifestation is in the fifth month. In rarer cases, the seizures do not occur until the second to fourth year of life. One in 20 cases of epilepsy in early childhood is due to West syndrome.
Causes
The exact biochemical mechanisms by which West syndrome develops are still unclear. Presumably, a neurotransmitter disorder underlies the seizures. The cause is probably a regulatory disorder of the GABA metabolism. However, an overproduction of corticotropin releasing hormone in the pituitary gland may also be to blame. A multifactorial interaction in the development of the disease is also conceivable. Since West’s syndrome occurs exclusively in infants and young children, the maturation of the brain seems to play a role in the development of seizures. In the immature brains of newborns, not all nerve fibers are yet myelinated. This may be why the brain reacts to stress or damage with West syndrome. In two thirds of the children, a brain-organic disorder can be detected. Thus, developmental disorders of the cerebral cortex, microcephalies, lissencephalies or malformations of blood vessels can be found. Aicardi syndrome, general degenerative brain diseases, phakomatoses such as tuberous sclerosis or cerebral atrophy can also lead to West syndrome. West syndrome may also develop following encephalitis or bacterial meningitis. Other risk factors include congenital infections, neurometabolic disorders, or hypoglycemia. The literature also cites brain damage from cerebral hemorrhage, stroke, traumatic brain injury, or hypoxia at birth as causes. There are cases of disease that first appeared as a conceivable side effect after multiple vaccinations against measles, rubella and mumps. However, West syndrome has not yet been recognized as a vaccine injury. If a cause can be demonstrated, it is symptomatic West syndrome. If West syndrome cannot be proven, it is thought to be cryptogenic West syndrome. In 20 percent of children with West syndrome, no cause can be identified.
Symptoms, complaints, and signs
The epileptic seizures that occur in children with West syndrome can be divided into three distinct forms. Flash seizures are manifested by lightning-like twitching of individual body parts or the entire body. The legs are suddenly bent and the children show violent myoclonic twitches. In nodding seizures, the neck and throat muscles twitch. The chin is bent toward the chest in a flash. The head may also be retracted. These movements are reminiscent of a head nod, which is why the seizures are called nodding seizures. Salaam seizures refer to a rapid forward bending of the head and upper body. At the same time, the children throw their bent arms upwards and/or bring their hands together in front of their chest. Because this type of seizure is reminiscent of the Salaam salute, the seizures have been named Salaam seizures. No connection can be found between the seizures and external stimuli. The seizures often occur just before falling asleep or immediately after waking. Classically, the convulsions begin weakly and then later increase into clusters of up to 150 seizures, with less than 60 seconds elapsing between each seizure.The individual convulsions can be variable in length and intensity depending on the child. They are not associated with pain and the children usually remain fully conscious. However, the seizures are very stressful, so children may be very tearful after a series of seizures.
Diagnosis and course of the disease
Even before diagnosis, affected children are conspicuous because of delayed psychomotor development. To confirm the diagnosis, an EEG is performed. Here, epileptic activity is seen in the form of irregularly high and slow delta waves. Spikes and sharp waves are incorporated into these delta waves. In addition to measuring the electrical activity, blood and urine are examined in the laboratory for chromosomal peculiarities, hereditary diseases, infectious diseases and for metabolic diseases. Imaging techniques such as ultrasound, positron emission tomography, magnetic resonance imaging, or computed tomography may be used to check for brain organic peculiarities.
Complications
In the worst case, West syndrome can result in the death of the affected person. However, this occurs only if the disease is not treated. In this case, the affected person suffers from epileptic seizures at a very young age. These represent a danger to the child’s life and must therefore be treated immediately by a doctor. Furthermore, most children suffer from twitching, which can lead to bullying or teasing, especially at a young age. As a result, psychological complaints or depression often develop as well. Likewise, the patients often suffer from movement restrictions or concentration disorders, so that the child development is also significantly restricted by West’s syndrome. In adulthood, the affected persons therefore also suffer from severe restrictions and disorders. The epileptic seizures are often also associated with severe pain. In many cases, the parents or relatives also suffer from severe psychological symptoms or depression. The treatment of West syndrome can be carried out with the help of surgical interventions. Compilations do not occur. However, it is not possible to predict whether the epileptic seizures will be completely limited. In many cases, this significantly reduces the life expectancy of the affected person.
When should you see a doctor?
The general health of newborns and infants should generally be checked and monitored regularly. Especially in the first weeks or months of life, the child’s developments should be observed and documented as best as possible. Abnormalities and changes should be discussed with the pediatrician so that it can be clarified whether there is a need for action or whether everything corresponds to a natural development. In the event of a seizure or involuntary twitching of the offspring, there is an acute need for action. Medical examinations must be initiated to clarify the cause. If the child’s movements are irregular or do not correspond to natural conditions, consultation with a physician is advisable. A whiny behavior, refusal to eat or disturbances of the digestive tract are warning signals of the organism. A physician should be consulted so that the observations can be better assessed. In case of disturbances of consciousness or loss of consciousness, an emergency medical service should be alerted. This is an acute situation requiring the fastest possible response and intensive medical care for the child. Until the arrival of the emergency physician, the instructions of the rescue service must be followed to ensure the life of the infant. In the event of a persistently crying child, changes in skin appearance or the suspicion that the offspring may be suffering from pain, a doctor should also be consulted.
Treatment and therapy
West syndrome is very difficult to treat. Early diagnosis increases the likelihood that little or no secondary damage will remain. If the disorder is based on a treatable brain-organic feature, surgical correction can be performed. Epilepsy surgery can eliminate the causes of the seizures. In most cases, however, West syndrome is treated with medication. Children are given ACTH, oral corticosteroids, or vigabatrin. Sultiam or pyridoxine are also administered.However, most anticonvulsant medications have been shown to be ineffective in West syndrome.
Prevention
The exact pathogenesis of West syndrome is still unclear, so the disease cannot currently be prevented.
Follow-up care
West syndrome is a severe form of epilepsy that can be treated, for example, with medication or surgery. The administration of drugs such as valproate or zonisamide must be strictly controlled. Children in particular react sensitively to the active substances, which is why close monitoring by the doctor is absolutely recommended. Multiple medication changes are common in the therapy of the condition. The dose must be regularly adjusted or the preparation changed. If a ketogenic diet is part of the therapy, progress must be discussed with a specialist or nutritionist at regular intervals. After epilepsy surgery, further visits to the doctor are usually required, as it is a risky procedure that may be associated with side effects. The frequency of medical check-ups depends on the type and severity of the epilepsy and the course of the surgery. Parents of affected children contact the pediatrician in charge and discuss the details with him/her. Follow-up care is provided by the pediatrician or neurologist who is already providing therapy. Epilepsy usually cannot be cured permanently. Therefore, follow-up is an ongoing process designed to cure individual symptoms and monitor medication.
Here’s what you can do yourself
Children who have West syndrome need support in their daily lives, as the recurrent epileptic seizures can be a major burden. Measures must be taken to prevent falls and accidents when an epileptic seizure occurs. Accompanying treatment options such as epilepsy surgery or drug treatment using vigabatrin or oral corticosteroids must be exhausted. Parents of affected children are best advised to contact a suitable specialist center at an early stage, as the prospects of a cure decrease as the child grows older. General measures to improve the child’s well-being also apply. Physical exercise and mental stimulation are important, as are an adapted diet and specially tailored therapies. For example, a ketogenic diet has proven effective in epilepsy. The association Ernährung bei Epilepsie FET e. V. (Nutrition in Epilepsy) gives affected persons further recommendations regarding diet. Children suffering from West syndrome must be informed about their condition at an early stage. This can be done by talking to doctors and other affected persons, but also by using information material such as books or brochures. Together with the responsible medical professional, further strategies can be developed for dealing with the condition on a day-to-day basis.
