West syndrome is a difficult to treat generalized malignant form of epilepsy. It occurs in infants between the ages of three and twelve months.
What is West Syndrome?
West Syndrome was named after the English physician and surgeon William James West. He observed the first seizures of this kind in 1841 in his four-month-old son and then described the disease from a scientific point of view. The terms malignant infant epilepsy or BNS epilepsy as an abbreviation for Blitz-Nick-Salaam epilepsy are also used as synonyms for the term West syndrome. For stage fright meanings, please visit whicheverhealth.com.
Malignant infant epilepsy is probably based on organic brain damage that occurred before birth, during birth, or after birth. West syndrome is characterized by generalized epileptic seizures. The disease occurs in one in 4,000 to 6,000 children. Boys are affected more often than girls.
In 90 percent of affected children, the seizures first occur 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 development mechanisms of West syndrome have not yet been elucidated. The seizures are probably due to a neurotransmitter disorder. 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.
Because West syndrome occurs only in infants and young children, brain maturity appears to play a role in the onset of seizures. In the immature brains of newborns, not all nerve fibers are myelinated. This may be why the brain reacts to stress or damage with West syndrome. A brain disorder can be detected in two thirds of the children.
Developmental disorders of the cerebral cortex, microcephaly, lissencephaly or malformations of blood vessels can be found. Aicardi syndrome, general degenerative brain diseases, phakomatoses such as tuberous sclerosis or brain atrophy can also lead to West syndrome.
West syndrome can also develop after encephalitis or bacterial meningitis. Other risk factors are congenital infections, neurometabolic diseases or hypoglycaemia. In the specialist literature, brain damage caused by cerebral hemorrhage, stroke, craniocerebral trauma or hypoxia during birth are also mentioned as causes.
There are cases of illness that occurred for the first time as a conceivable side effect after multiple vaccinations against measles, rubella and mumps. However, West syndrome has not yet been recognized as a vaccine damage. If a cause can be proven, it is symptomatic West syndrome. If West syndrome cannot be detected, cryptogenic West syndrome is assumed. In 20 percent of all children with West syndrome, no cause can be identified.
Symptoms, Ailments & Signs
The epileptic seizures that occur in children with West syndrome can be divided into three different types. Lightning seizures are manifested by sudden convulsions of individual parts of the body or of the entire body. The legs are suddenly flexed and the children exhibit violent myoclonic jerks.
The neck and throat muscles twitch during the nodding seizures. The chin is bent in a flash towards the chest. 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 are rapid forward bending of the head and upper body. At the same time, the children throw their bent arms up and/or bring their hands together in front of their chests. Because this type of seizure is reminiscent of the Salaam greeting, the seizures were called 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 up. Classically, the spasms begin weakly and then later increase in clusters of up to 150 seizures, with less than 60 seconds elapsing between the individual seizures.
The individual cramps can vary in length and intensity depending on the child. They are not associated with pain and children usually remain fully conscious. However, the seizures are very exhausting, so that the children can be very tearful after a series of seizures.
Diagnosis & course of disease
Even before the diagnosis is made, the affected children are conspicuous because of delayed psychomotor development. An EEG is performed to confirm the diagnosis. Here the epileptic activity shows itself in the form of irregularly high and slow delta waves. Spikes and sharp waves are built into these delta waves.
In addition to measuring the electrical activity, blood and urine are examined in the laboratory for chromosome peculiarities, hereditary diseases, infectious diseases and metabolic diseases. Imaging methods such as ultrasound, positron emission tomography, magnetic resonance tomography or computed tomography can be used to check brain-organic peculiarities.
Complications
In the worst case, West syndrome can lead to the death of the person affected. However, this only occurs if the condition is not treated. Those affected suffer from epileptic seizures at a very young age. These are life-threatening for the child 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. This often leads to psychological problems or depression. Likewise, the patients often suffer from restricted mobility or concentration disorders, so that the child’s development is also clearly restricted by West syndrome.
In adulthood, those affected also suffer from severe limitations and disorders. Epileptic seizures are often associated with severe pain. In many cases, the parents or relatives also suffer from severe psychological problems or depression.
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 reduced. In many cases, this significantly reduces the life expectancy of those affected.
When should you go to the doctor?
The general health of newborns and infants should always be checked and monitored regularly. Especially in the first weeks or months of life, the development of the child 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 an 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 the natural conditions, it is advisable to consult a doctor. Crying behavior, refusal to eat or disorders of the digestive tract are warning signals from the organism.
A doctor should be consulted so that the observations can be better assessed. In the event of disturbances of consciousness or loss of consciousness, an emergency service should be alerted. This is an acute situation that requires a response as quickly as possible and requires intensive medical care for the child. Until the arrival of the emergency doctor, the instructions of the emergency services must be followed in order to save the baby’s life. A doctor should also be consulted if the child continues to cry, if there are changes in the complexion, or if you suspect that the offspring may be suffering from pain.
Treatment & Therapy
West syndrome is very difficult to treat. An early diagnosis increases the probability that little or no consequential damage will remain. If the disease is based on a treatable brain-organic peculiarity, an operative correction can be carried out.
With epilepsy surgery, the causes of the seizures can be eliminated. In most cases, however, West syndrome is treated with medication. Children receive ACTH, oral corticosteroids, or vigabatrin. Sultiam or pyridoxine are also administered. However, most anticonvulsant medications have proven ineffective in West syndrome.
Prevention
The exact pathogenesis of West syndrome is still unclear, so that the disease cannot currently be prevented.
Aftercare
West syndrome is a severe form of epilepsy that can be treated with medication or surgery, for example. The administration of drugs such as valproate or zonisamide must be strictly controlled. Children in particular are sensitive to the active ingredients, which is why close monitoring by a doctor is highly recommended.
Multiple changes in medication are common in the treatment of the condition. The dose must be regularly adjusted or the preparation changed. If a ketogenic diet is part of the therapy, the progress must be regularly discussed with a specialist doctor or nutritionist. Additional visits to the doctor are usually required after epilepsy surgery because it is a risky procedure that can have side effects.
The frequency of the medical check-up appointments depends on the type and severity of the epilepsy and the course of the intervention. Parents of affected children contact the responsible pediatrician and discuss the details with them. Follow-up care is provided by the pediatrician or neurologist, who already takes care of the therapy. Epilepsy usually cannot be cured permanently. Therefore, follow-up is an ongoing process designed to resolve individual symptoms and monitor medication.
You can do that yourself
Children suffering from West Syndrome need support in everyday life because the recurring epileptic seizures can be very distressing. Measures must be taken to prevent falls and accidents during an epileptic seizure. At the same time, treatment options such as epilepsy surgery or drug treatment using vigabatrin or oral corticosteroids must be exhausted. It is best for parents of affected children to contact a suitable specialist center at an early stage, as the chances of recovery decrease as the child gets older.
In addition, general measures apply to improve the well-being of the child. Physical exercise and mental stimulation are important, as is an adapted diet and specially tailored therapies. A ketogenic diet, for example, has been shown to be effective for epilepsy. The Association for Nutrition in Epilepsy FET e. V. gives those affected further recommendations regarding the diet.
Children suffering from West Syndrome must be informed about their condition at an early stage. Discussions with doctors and other people affected are ideal for this, as are information materials such as books or brochures. Together with the doctor responsible, further strategies for dealing with the disease on a daily basis can be developed.
