West Syndrome

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Classification according to ICD-10
G40.4 Other generalized epilepsy and epileptic syndromes
ICD-10 online (WHO version 2019)

The West syndrome is after his first described William James West called the form of rare and difficult to treat generalized malignant epilepsy . It is age-related, occurs in infants usually in the period between the third and twelfth month after the birth for the first time and reached the manifestation peak average of five months. The causes can be manifold (polyetiology) ; the syndrome is often based on organic brain damage or the effects of diseases of the brain that have arisen either prenatally (prenatal), during birth (perinatal) or after birth (postnatal). The noticeable age-related nature of the syndrome suggests that the state of maturity of the brain is of major importance for the development of this form of epilepsy.

The terms malignant infant epilepsy, infantile spasms, propulsive petit mal and, in the German-speaking countries, BNS epilepsy as an abbreviation for Blitz-Nick-Salaam epilepsy are used as synonyms for the expression West Syndrome .

frequency

The general probability of occurrence ( prevalence ) is around 1: 4000 to 1: 6000, statistically speaking, boys are more often affected by the West syndrome than girls ( androtropia ) in a ratio of around 3: 2 . In around 9 out of 10 children with the disease, the first seizure occurs in the period from the third to the twelfth month after birth. In rarer cases, the attacks start in the first two months or in the course of the second to fourth year of life. West syndrome can be diagnosed in about 1 in 20 cases of early childhood epilepsy.

causes

It is not yet known which biochemical mechanisms lead to the occurrence of West syndrome. A disturbance of the neurotransmitter function (regulation disturbance of the GABA metabolism) is suspected. Another possibility that is being explored is overproduction of the corticotropin releasing hormone . Both hypotheses, a multifactorial interaction would also be conceivable, are supported by the mode of action of various drugs that are used to treat West syndrome.

The age relationship in the West syndrome indicates that the maturation state of the children's brain at the time of damage is apparently of particular importance for the development of epilepsy: in the still very immature brain of children of this age, myelination is not yet complete. The brain stressed by damage can react by developing West syndrome. The nature of the damage at hand can be viewed as being of secondary importance; the range of possible causes is very wide:

If a cause can be proven, one speaks of a symptomatic West syndrome, since the seizures occur as a concomitant phenomenon or feature (symptom) of another peculiarity.

Occasionally one speaks of a cryptogenic West syndrome when a symptomatic West syndrome is suspected but not proven. No cause for the cramps can be found in around 20% of children. Until the onset of the seizures, they usually show a regular development according to age. Evidence of a triggering cause for the cramps is not successful. The seizures start after the third month and rarely change into other types of seizures.

In about 15% of cases, several children in the family develop West Syndrome. In this case one speaks of an idiopathic West syndrome, in which genetic and sometimes hereditary influences play a role. There are known cases in which West syndrome occurred in consecutive generations in boys; it is an x-chromosomal inheritance of a homeobox gene .

Appearance

The epileptic seizures that can be observed in infants with West syndrome can be divided into three types of seizures, the semiology of which has given the convulsions the synonym BNS epilepsy .

Usually at the same time, but sometimes also independently of one another, the following triad of seizure types occurs in typical form in the florid West syndrome , which is particularly noticeable in children in the supine position :

  • Lightning attacks (B): Sudden (lightning-like) violent myoclonic jerks of the entire body or individual parts of the body in fractions of a second, whereby the flexion of the legs in particular is noticeable (flexion patterns are generally more common here than stretching patterns).
  • Nodding fits (N): twitching of the neck and throat muscles, with the chin jerked towards the chest or the head pulled in ( nod ).
  • Salaam attacks (S): Rapid bending of the head and trunk forwards and simultaneous mostly symmetrical throwing up and bending of the arms with partial bringing the hands together in front of the chest or rowing movements. If one imagined this process to be slowed down, the movements would resemble the oriental-oriental greeting of peace (Salaam) , which is what gave this type of attack its name.

The seizures occur independently of external stimuli and can often be observed in the children shortly after they wake up or shortly before they fall asleep. However, they can also occur at other times and z. B. also begin in sleep and lead to waking up. In the classic course, isolated, rather weak cramps occur at the beginning and then later series ( clusters ) of up to 150 seizures, with the intervals between the cramps each being less than 60 seconds.

Sometimes, attenuated types of seizures can be observed that (initially) do not correspond to the classic picture of a BNS seizure (e.g. separate rolling of the eyes, head rotations, one-sided movements of the extremities ) or that are associated with other types of seizures (e.g. grand mal seizures) . The cramps in West syndrome can vary greatly in intensity and length in individual children. The spectrum ranges from inconspicuous jerks to sweeping sequences of movements that affect the entire body. The duration is between a few seconds and several minutes, sometimes a status epilepticus develops .

About 3 in 10 children with West Syndrome have an additional constitutional seizure readiness.

Although the seizures are not painful and are likely to remain conscious , the children often cry during the seizures or often afterwards because they are very strenuous. Since this form of epilepsy is rare and therefore little known, many parents initially interpret the BNS attacks as a startle reaction , as a Moro reflex (clasping reflex) or as flatulence and abdominal pain ( colic ); The latter especially because of the children's crying. They often only seek medical advice when their child's seizures occur in series and the unusual movement pattern becomes clear. The recording of the seizures on video or the taking of photos can support the verbal description of the abnormalities and be helpful to the doctor consulted in analyzing the seizures.

Other characteristics that can be observed with remarkable frequency in children with West syndrome (often even before the onset of the seizures) are e.g. B .:

  • in 9 out of 10 children: general psychomotor developmental delay (possibly regression or standstill in the development that has already taken place)
  • Impaired ability to make contact, often with impaired eye contact, unlearning (social) laughter
  • unusual eye movements (often: deviation of the eye axis with brief looks upwards, eye tremors )
  • Hearing impairment (no usual reactions to sounds and speech)
  • Muscle hypotension (decreased muscle tension ; often indicated by the children being unable to hold their heads appropriately for their age)
  • Grimacing (sometimes with unusual smacking or yawning )
  • Mood swings, a decrease in vigilance and even apathy on the one hand and, at times, particular restlessness on the other
  • white spots on the skin

Not all characteristics occur in all children or are equally evident. Not only the cause of the cramps and the cramps themselves are relevant here, but also possible (side) effects of therapeutic intervention through medication.

Effects

Although the seizures may seem harmless to laypeople due to their brevity and inconspicuousness, if untreated or if they are resistant to therapy, they usually lead to severe and sometimes permanent disorders of the child's cognitive and physical development.

Concentration deficits due to the existing epileptic overactivity in the brain can lead to learning difficulties; already acquired skills such as spoken language and the social smile are often forgotten again. A decrease in muscle tension ( muscle hypotonia ) restricts active mobility. A disturbed gaming behavior is often observed, autistic traits or classic autism occur in around 3 out of 10 children. The increase in the likelihood of developing an autistic disorder is given in particular in children in whom the temporal lobes in the brain are changed due to tuberous sclerosis and who have West syndrome (see Freitag, 2008; Bolton et al. 2002; Bolton / Griffiths, 1997).

diagnosis

Children with West syndrome are often noticeable even before the first occurrence of the seizures due to a psychomotor development that is not age-appropriate.

The West syndrome as epilepsy with generalized seizures in a focal and multifocal region of origin manifests itself with a so-called hypsarrhythmia , which was first described by Gibbs and Gibbs in 1952: The typical interictal EEG , in which epileptic activity is expressed in the form of a shows a continuous sequence of irregularly high, slow delta waves with alternating (desynchronous) scattering of short-term peak potentials ( spikes ) and / or steep processes (sharp waves ). Duration and localization (focal / multifocal) are asymmetrical, variations are the rule: "Hypsarrhythmia never appears as a rhythmic and well-organized pattern" (Gibbs & Gibbs, 1952).

The picture of a so-called “modified hypsarrhythmia” with single, bilateral uniform discharges has also been described, as well as the variant of the “hemihypsarrhythmia” , which can be traced back to one-sided brain damage. Between the seizures and sometimes only during sleep, there is a picture of slow waves and high peaks (spikes) on both sides.

In addition to the diagnosis by measuring the electrical activity in the child's brain, it is usually recommended to have the blood and urine analyzed as part of a laboratory diagnosis to determine the presence of chromosomal peculiarities , hereditary diseases , metabolic diseases (e.g. phenylketonuria ) and infectious diseases to be able to intervene if necessary and to classify or narrow down the cause of the epileptic seizures.

The examination of the presence of a cerebral organic feature is possible through an imaging examination of the brain. Possible procedures are:

If the movement patterns of the seizures are lateral, this suggests brain damage on the corresponding side, which should be investigated. Often found z. B. enlargements of the cerebral ventricles (cerebral water spaces), scar-like densities, calcifications or nodular peculiarities of the brain tissue, peculiarities of the cerebral furrows or a brain maturation that is not age-appropriate.

General medicine-oriented paediatricians often have little experience with West Syndrome, which is rare compared to other epilepsies, and its symptoms, which can lead to misdiagnoses such as Moro reflex (clasping reflex) , abdominal pain ( colic ) or flatulence. A child with the suspected diagnosis of West Syndrome should therefore also be examined by a child neurologist (neuropediatrician). In the case of infants and young children with unclear developmental disorders, West syndrome and Lennox-Gastaut syndrome should also be considered.

In terms of differential diagnosis , West syndrome can be distinguished from Lennox-Gastaut syndrome , from Ohtahara syndrome , rhythmic or arrhythmic sleep or waking myoclonus, benign (benign) myoclonus of infancy, from myoclonic early enalopathy, by demonstrating the characteristic hypsarrhythmia benign and the malignant (malignant) myoclonic epilepsy of infancy and toddler age and disorders that can show a picture similar to BNS convulsions of the movements here.

In the ICD-10 , the diagnosis of West Syndrome is given the code G40.4 (Other generalized epilepsy and epileptic syndromes) .

therapy

West syndrome is difficult to successfully treat compared to other epilepsy. A diagnosis as early as possible and the immediate start of treatment are extremely important in order to increase the chance of keeping consequential damage as low as possible. However, therapy success cannot be guaranteed even with timely intervention. There is not enough research into whether the form of treatment can influence the long-term prognosis. According to current knowledge, the prognosis is mainly determined by the cause of the seizures and the duration of the hypsarrhythmia . In general, it can be stated that a poor response to the therapy (and the associated continued epileptic overactivity in the brain) (also) causes a poor prognosis. Treatment is always individual and depends in particular on the cause of the West syndrome (etiological classification) and brain development (time of brain damage).

If a treatable peculiarity of the organic brain is the cause of the seizures, in some cases an operative correction by epilepsy surgery is possible after careful consideration of the advantages and disadvantages . This can eliminate the cause and thus the seizures. In most cases of West syndrome, however, therapy is based on medication. The highest level of evidence regarding their effectiveness is found in therapies with ACTH , oral corticosteroids or vigabatrin , the latter being the first choice , especially for children with tuberous sclerosis . The combination of sultiam and pyridoxine is also considered to be another effective therapy option. For other drugs ( benzodiazepines , immunoglobulins , levetiracetam , pyridoxine , pyridoxal phosphate , topiramate , valproate , zonisamide ) and ketogenic diets, efficacy has only been reported in open studies or studies with a small number of cases, from which no general treatment recommendations can be derived according to the guideline.

In general, attempts are made to begin with preparations or dosages that are as well tolerated as possible and with few side effects and, if necessary, to increase or change the medication if the seizures do not decrease or stop after a corresponding control period. Not infrequently, especially with emergency medication, paradoxical reactions to the active ingredients (e.g. stimulating effect instead of calming) appear, which can sometimes even provoke an attack. A change should then be considered. Regardless of this, multiple medication changes are not uncommon in the treatment of West Syndrome: Depending on how the seizures develop, the dose is adjusted or the medication is discontinued and switched to another preparation. Depending on the period of administration, a medication change is carried off and Creep prepared to adjustment problems and withdrawal symptoms should be avoided.

Most conventional anticonvulsant drugs are largely ineffective in West Syndrome. Drugs that are used to treat West Syndrome include: B. (alphabetical order):

Chloral hydrate (Chloraldurat ® ), diazepam , lorazepam (Tavor ® ) or phenobarbital (Luminal ® ) are often prescribed as emergency medication for frequent BNS attacks in order to interrupt clusters of several minutes in length and to prevent a new series of attacks.

In some cases, the side effects of the drugs are very stressful for the child's organism, so that the children are in a twilight state. With combination therapies in particular, an increased incidence of side effects is to be expected. Some children can also be identified as having an above-average susceptibility to side effects. When choosing medication, the risks from possible side effects and dependency must therefore be weighed against the health risks from the attacks. Many medications are addictive comparatively quickly, so that withdrawal symptoms requiring treatment can occur when changing medication or after discontinuing a corresponding preparation .

Since it often happens that the external signs of epileptic seizures decrease with drug administration and there is an improvement in the clinical picture while the typical pattern in the EEG persists, the control and documentation of the course of treatment and development is carried out, in particular by regularly checking the EEG Picture and, in the case of drug settings, by blood tests to monitor the drug level. In addition, for the assessment of u. a. possible side effects of drugs, careful observation of the clinical picture is very important. Depending on the expected side effects, clinical monitoring of the child may be more important than e.g. B. the laboratory results. As the child's closest caregivers, the parents can make a decisive contribution here.

If the West syndrome in a child can be classified as drug-resistant after an individually appropriate number and duration of drug treatment attempts, the use of a consistent and long-term ketogenic diet can be considered. Studies have shown good results in different forms of drug-resistant epilepsy, especially in childhood: out of 100 people treated, an estimated 10 become seizure-free, in 15 a more than 90% reduction in seizures can be observed and in 25 the frequency of seizures is reduced by 50%. A worsening of epilepsy as a result of the ketogenic diet has been reported in isolated cases. In order to avoid malnutrition and side effects as far as possible due to the change in diet, the diet should be accompanied by a nutritionist and monitored by a doctor, especially in the beginning .

In order to counteract a delay in the child's physical and cognitive development and to prevent developmental setbacks and standstills as far as possible, medical-educational support treatments such as B. Early intervention , motopedics , physiotherapy , occupational therapy and speech therapy can be carried out. Individual, intensive and continuous support is important here. The neurologist's observation of the course of treatment (e.g. through regular reports from the therapist) can be helpful in assessing the effectiveness of the medical intervention, in particular. It can also help the therapist to regularly receive up-to-date information about the progress of the epilepsy treatment, for example for the targeted observation and assessment of behavior when changing medication.

In particular, parents of children whose West syndrome is difficult to control are often physically (e.g. increased care, sleep deficit due to nocturnal attacks) and psychologically (e.g. uncertain prospects of child development) very stressed by this situation. A help here can be the contact to a self-help group, as well as the offer of professional advice on questions of coping with everyday life as well as practical support, e.g. B. in dealing with and evaluating medical information and in educating the social environment about the child's epilepsy and its consequences.

Course and prognosis

General course and development prognoses are not possible due to the mentioned variability of the causes and the severity of the symptoms. The individual case must always be considered.

In children with cryptogenic West syndrome, for whom no cause can be proven, the prognoses are usually more favorable than in children with the idiopathic and symptomatic form: they show less developmental disorders and neurological abnormalities before the onset of the seizures, and the seizures often go faster and treat medication more effectively, the relapse rate is lower. Following the West syndrome, children develop other forms of epilepsy less often and, on average, around two out of five children show age-appropriate development and normal intelligence.

Otherwise, however, the treatment of West syndrome is comparatively difficult and the success of the therapy is often unsatisfactory, so that it must be assumed that children with symptomatic and idiopathic West syndrome have a rather poor prognosis (especially if they are resistant to therapy).

Statistically, 5 out of 100 children with West syndrome do not survive the first five years of their life (partly due to the etiological cause of the syndrome, partly due to drug- related mortality ). Only in less than half of the children is it possible to achieve freedom from seizures through drug treatment. Statistically speaking, around three out of ten children can be treated satisfactorily, with an average of only one in 25 children developing cognitive and motor skills in a largely regular manner.

A large proportion (around 70 to 90%) of the children are clearly physically and cognitively impaired even after successful treatment of the seizures. However, this is usually not primarily due to the epileptic seizures, but rather to their cause (cerebral peculiarity or its location and severity), whereby severe and frequent seizures can (additionally) damage the brain.

Permanent damage that in the literature with the West syndrome are associated, in addition to cognitive disabilities , learning disabilities and behavioral problems , a cerebral palsy (up to 5 out of 10 children), mental disorders, often autism (about 3 out of 10 children) . Here too, however, the individual etiology of the West syndrome must always be included in the discussion of the respective cause-effect complex.

Up to 6 out of 10 children with West Syndrome will develop secondary epilepsy with changes in symptoms in their lifetime. At the age of 2 to 5 years, the myoclonus decrease significantly and other types of seizures predominate (grand mal seizures, myoclonic-astatic seizures, later possibly complex partial seizures). About half of the children get Lennox-Gastaut syndrome .

West syndrome in infants with Down syndrome

West syndrome occurs in an average of 1 to 5 out of 100 children with Down syndrome (trisomy 21) in infancy. While this form of epilepsy without the underlying syndrome in most children trisomy be treated comparatively heavy successful, a much milder course and better responsiveness may in children with Down syndrome often be observed on drugs: With them is often "the peculiarity ... So in that it is a relatively benign form of an otherwise severe epilepsy ” . EEG recordings often show more symmetry and fewer abnormalities in them, and although not all children are seizure-free through medical treatment, children with Down syndrome following West syndrome are less likely to develop Lennox-Gastaut syndrome or other forms of epilepsy than children without additional genetic material of the 21st chromosome . It is not known why the treatment of West syndrome in children with trisomy 21 is often more favorable. However, if the BNS cramps or myoclonic seizures are difficult or impossible to stop in children with Down syndrome, they run the risk of developing an autistic disorder .

West Syndrome in Infants with Other Syndromes

In addition to children with Down syndrome (trisomy 21), children with Bloch-Sulzberger syndrome , Bourneville-Pringle syndrome , Foix-Chavany-Marie syndrome , Sturge-Weber syndrome and Patau syndrome (trisomy 13) also have an above-average level Risk of developing West Syndrome.

history

The West syndrome was in 1960 after the English doctor and surgeon William James West named (1793 to 1848), which in Tonbridge (county Kent ) lived. He observed this particular form of epilepsy in 1841 in his own son James Edwin (February 13, 1840-1860), who was then about four months old. West sent a letter to the editor to the medical journal The Lancet describing his observation, which was also published and is believed to be the first medical treatise of a form of epilepsy.

West called the cramps salaam tic at the time and particularly emphasized the noticeable psychomotor slowdown of his son. He suspected a connection between the seizures and irritation of the nervous system by teething (“... it depended on some irritation of the nervous system from teething ...”) . West contacted other doctors, some of whom were very well-known, and who in turn had treated a total of six other children with the same seizure pattern. They also considered a connection with the eruption of the teeth to be possible or a general disease of the brain.

When trying to treat James Edwin from the seizures, his father, according to the knowledge of his time, used, among other things, cold applications on the head, warm baths, leeches , opium , poppy seed syrup , castor oil and incising the gums (to allegedly facilitate teething). However, the seizures did not decrease, even after the teeth erupted. James Edwin's epilepsy proved to be resistant to therapy and the eruption theory was ultimately invalid.

The boy did not make up for the accompanying development deficits and was placed in an institution for people with disabilities when he was seven. James Edwin West, probably the first known patient with BNS epilepsy, died of tuberculosis at the age of 20 .

literature

Guidelines

Others

  • Altrup U., Elger CE: Epilepsy. Information in texts and images for those affected, relatives and interested parties (2000, ISBN 3-933185-49-1 )
  • Bottler, Anja Irmela: Children with Blitz-Nick-Saalam cramps, their development and their parents. Analysis of patients from the University Children's Hospital Gießen from 1973–1993. Therapy over the years. Personality analysis of the parents. (Doctoral thesis, Gießen, 2005), PDF
  • Blattner, Regine: Systematic behavior analysis in children with West Syndrome (University of Tübingen, dissertation, 1996)
  • Krämer, Günter : Diagnosis of Epilepsy (2003, ISBN 3-8304-3077-9 )
  • Puckhaber, Haiko: Epilepsy in Childhood (2000, ISBN 3-88074-240-5 )
  • Schneble, Hansjörg: Epilepsy in Children - How your family learns to live with it (1999, ISBN 3-89373-528-3 )

Web links

Individual evidence

  1. ^ SG Munich, judgment v. 03.12.2015 - S 9 VJ 2/06 - Citizen Service. Retrieved October 21, 2017 .
  2. ↑ AWMF guideline West Syndrome . ( Memento of the original from March 11, 2014 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. (PDF) @1@ 2Template: Webachiv / IABot / www.awmf.org
  3. ↑ cf. Goldberg-Stern et al., 2001 & Eisermann et al. 2003 in: American journal of medical genetics part C, 2006, p. 163: Neurobehavioral disorders in children, adolescents and young adults with down syndrome
  4. ↑ Schneble, Hansjörg: Heillos, Heilig, Heilbar - history of epilepsy / pediatric epileptology in the 18th century . Page 101
  5. ↑ R. Duncan: Infantile spasms: the original description of Dr West. 1841. In: Epileptic disorders: international epilepsy journal with videotape. Volume 3, Number 1, 2001 Jan-Mar, pp. 47-48, ISSN  1294-9361 . PMID 11313223 . ( Online )