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West syndrome
From Wikipedia, the free encyclopedia

West syndrome, West syndrome

Classification & external resources
otherwise known
as infantile ICD-10 G40.4
spasms, is an (http://www.who.int/classifications/apps/icd/icd10online/?gg40.htm+g404)
uncommon to rare ICD-9 345.6 (http://www.icd9data.com/getICD9Code.ashx?icd9=345.6)
and serious form DiseasesDB 6788 (http://www.diseasesdatabase.com/ddb6788.htm)
of epilepsy in eMedicine neuro/171 (http://www.emedicine.com/neuro/topic171.htm)
infants. It is MeSH D013036
named after the (http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D013036)
English physician,
William James West (1793-1848), who first described it in an article published in The Lancet in 1841. Other
names for it are "Generalized Flexion Epilepsy", "Infantile Epileptic Encephalopathy", "Infantile Myoclonic
Encephalopathy", "jackknife convulsions", "Massive Myoclonia" and "Salaam spasms". The name "infantile
spasms" is used to describe both the seizure type and the syndrome.

The syndrome is age-related, generally occurring between the third and the twelfth month, generally
manifesting around the fifth month. There are various causes ("polyetiology"). The syndrome is often caused
by an organic brain dysfunction whose origins may be prenatal, perinatal (caused during birth) or postnatal.

Contents
1 Search Names
2 Prevalence
3 Causes
3.1 Symptomatic
3.1.1 West syndrome in Down syndrome babies
3.2 Cryptogenic
3.3 Idiopathic
4 Clinical presentation
5 Therapy
6 Prognosis
7 History
8 References

Search Names
Lots of different brain disorders create the same symptom of West Syndrome. This alone makes diagnosis
difficult, it also serves to make locating the right information quite difficult. For those looking for further
website information about this condition to help their own children, other useful search terms have been:

Salaam Seizure
Salaam Attack
Salaam Tic
Hypsarrythmia

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West Sydrome
Infantile Spasms

These search terms tend to lead onto a great many other websites of support groups, personal pages of those
who have been cured and those with ongoing struggles to tell. Also, there will be sites of further research
studies being performed and information of doctors around the globe who may be of assistance. Each case is
unique in its own way, what works for one may not work for all, but there is so much to lose for not
searching and so much to gain.

Prevalence
Prevalence is around 1:4000 to 1:6000. Statistically, boys are more likely to be affected than girls at a ratio
of around 3:2. In 45 out of every 50 children affected, the spasms appear for the first time between the third
and the twelfth month of age. In rarer cases, spasms may occur in the first two months or during the second
to fourth year of age.

Causes
It is still unknown which bio-chemical mechanisms lead to the occurrence of West syndrome. It is
conjectured that it is a malfunction of the neurotransmitter function, or more precisely, a malfunction in the
regulation of the GABA transmission process. Another possibility being researched is a hyper-production of
the Corticotropin-releasing hormone (CRH). It is possible that more than one factor is involved. Both
hypotheses are supported by the effect of certain medications used to treat West syndrome.

Symptomatic

If a cause presents itself, the syndrome is referred to as symptomatic West syndrome, as the attacks manifest
as a symptom of another anomaly. These are the possible causes being considered:

In around one third of the children, there is evidence of a profound organic disorder of the brain. This
includes:
microcephaly
cortical dysplasia
cerebral atrophy
lissencephaly
bacterial meningitis
phakomatosis (e.g. Bourneville's disease)
Aicardi syndrome
tuberous sclerosis
cephalhematoma and
vascular malformation.

Furthermore, other causes increasingly being named in the literature are:

Incontinentia pigmenti
Foix-Chavany-Marie syndrome
Patau syndrome (trisomy 13)
Sturge-Weber syndrome
neurometabolic diseases
congential infections (e.g. Cytomegalovirus)
hypoglycemia
brain damage due to asphyxiation or hypoxia (lack of oxygen, e.g. during birth), periventricular
leukomalacia, cephalhematoma, cerebrovascular accident or brain damage of various types as
well as that caused by premature birth.

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There are known cases in which the spasms occurred for the first time after vaccination against
Measles, Mumps and Rubella or Tetanus, Pertussis, Diphtheria, Polio, Hepatitis B and Haemophilus
influenzae Type B. However, stress of any kind is a common trigger for seizures, and the
immunization occurs during the time-frame in which many typical cases become conspicuous. There
is no causal relationship between immunization and West syndrome, since in many cases West
syndrome is not recognized as iatrogenic.

West syndrome in Down syndrome babies

On average, West syndrome appears in 1 to 5 per 100 children with Down's syndrome as babies. Whereas
this form of epilepsy is relatively difficult to treat in children who do not have the chromosomal differences
involved in Down's syndrome, the syndrome often affects those who do far more mildly and they often react
better to medication. The German Down Syndrom InfoCenter (http://www.ds-infocenter.de/) noted in 2003
that what was normally a serious epilepsy was in such cases often a relatively benign one.

EEG records for Down's syndrome children are often more symmetrical with fewer unusual findings.
Although not all children can become entirely free from attacks with medication, children with Down's
syndrome are less likely to go on to develop Lennox-Gastaut syndrome or other forms of epilepsy than those
without additional hereditary material on the 21st chromosome. The reason why it is easier to treat children
with Down's syndrome is not known.

Cryptogenic

When a direct cause cannot be determined but the children has other neurological disorder, the case is
referred to as cryptogenic West syndrome, where an underlying cause is most likely but even with our
modern means cannot be detected.

Sometimes multiple children within the same family develop West syndrome. In this case it is also referred
to as cryptogenic, in which genetic and sometimes hereditary influences play a role. There are known cases
in which West syndrome appears in successive generations in boys; this has to do with X-chromosomal
heredity.

Idiopathic

Occasionally the syndrome is referred to as idiopathic West syndrome, when a cause cannot be determined.
Important diagnostic criteria are:

Regular development until the onset of the attacks or before the beginning of the therapy
no pathological findings in neurological or neuroradiological studies
no evidence of a trigger for the spasms

Those are becoming rare due to modern medicine.

Clinical presentation
The epileptic seizures which can be observed in infants with West syndrome fall into three categories.
Typically, the following triad of attack types appears; while the three types usually appear simultaneously,
they also can occur independently of each other:

Lightning attacks: Sudden, severe myoclonic convulsions of the entire body or several parts of the
body in split seconds, and the legs in particular are bent (flexor muscle convulsions here are generally
more severe than extensor ones).
Nodding attacks: Convulsions of the throat and neck flexor muscles, during which the chin is fitfully

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jerked towards the breast or the head is drawn inward.

Salaam or jackknife attacks: a flexor spasm with rapid bending of the head and torso forward and
simultaneous raising and bending of the arms while partially drawing the hands together in front of the
chest and/or flailing. If one imagined this act in slow motion, it would appear similar to the oriental
ceremonial greeting (Salaam), from which this type of attack derives its name.

Therapy
Compared with other forms of epilepsy, West syndrome is difficult to treat. To raise the chance of successful
treatment and keep down the risk of longer-lasting effects, it is very important that the condition is
diagnosed as early as possible and that treatment begins straight away. However, there is no guarantee that
therapy will work even in this case.

Insufficient research has yet been carried out into whether the form of treatment has an effect upon the
long-term prognosis. Based on what is known today, the prognosis depends mainly on the cause of the
attacks and the length of time that hypsarrhythmia lasts. In general it can be said that the prognosis is worse
when the patient does not react as well to therapy and the epileptic over-activity in the brain continues.
Treatment differs in each individual case and depends on the cause of the West syndrome (etiological
classification) and the state of brain development at the time of the damage.

Due to their side-effects, two drugs are currently being used as the first-line treatment.

ACTH - Use primarily in United States

Side effects are: Weight gain, especially in the trunk and face, hypertension, metabolic
abnormalities, severe irritability, osteoporosis, sepsis, and congestive heart failure.
Vigabatrin (Sabril) - Approved in several countries, like most Europe, Canada and Mexico.
Side effects are: Somnolence, headache, dizziness, fatigue, weight gain, decreased vision or
other vision changes

Vigabatrin is known for being effective, especially in children with tuberous sclerosis, with few and benign
side effects. But due to some recent studies[1] showing visual field constriction (loss of peripheral vision), it
is not yet approved in United States. It is currently debated that a short use (6 months or less) of Vigabatrin
will not affect vision. Also, considering the effect of frequent seizures on day to day life and mental
development, some parents prefer to take the risk of some vision loss.

When those two are proving ineffective, other drugs may be used in conjunction or alone. topiramate
(Topamax), lamotrigine (Lamictal), levetiracetam (Keppra) and zonisamide (Zonegran) are amongst the
most widely use.

The ketogenic diet have been tested and his shown to be effective[2], up to 70% of children having a 50% or
more reduction in seizure[3].

Prognosis
It is not possible to make a generalised prognosis for development due to the variability of causes, as
mentioned above, the differing types of symptoms and etiology. Each case must be considered individually.

The prognosis for children with idiopathic West syndrome are mostly more positive than for those with the
cryptogenic or symptomatic forms. Idiopathic cases are less likely to show signs of developmental problems
before the attacks begin, the attacks can often be treated more easily and effectively and there is a lower
relapse rate. Children with this form of the syndrome are less likely to go on to develop other forms of
epilepsy; around two in every five children develop at the same rate as healthy children.

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In other cases, however, treatment of West syndrome is relatively difficult and the results of therapy often
dissatisfying; for children with symptomatic and cryptogenic West syndrome, the prognosis is generally not
positive, especially when they prove resistant to therapy.

Statistically, 5 out of every 100 children with West syndrome do not survive beyond five years of age, in
some cases due to the cause of the syndrome, in others for reasons related to their medication. Only less than
half of all children can become entirely free from attacks with the help of medication. Statistics show that
treatment produces a satisfactory result in around three out of ten cases, with only one in every 25 children's
cognitive and motoric development developing more or less normally.

A large proportion (up to 90%) of children suffer severe physical and cognitive impairments, even when
treatment for the attacks is successful. This is not usually because of the epileptic fits, but rather because of
the causes behind them (cerebral anomalies or their location or degree of severity). Severe, frequent attacks
can (further) damage the brain.

Permanent damage often associated with West syndrome in the literature include cognitive disabilities,
learning difficulties and behavioural problems, cerebral palsy (up to 5 out of 10 children), psychological
disorders and often autism (in around 3 out of 10 children). Once more, the etiology of each individual case
of West syndrome must be considered when debating cause and effect.

As many as 6 out of 10 children with West syndrome suffer from epilepsy later in life. Sometimes West
syndrome turns into a focal or other generalised epilepsy. Around half of all children develop
Lennox-Gastaut syndrome.

History
West syndrome was named after the English doctor and surgeon William James West (1793-1848), who
lived in Tonbridge. In 1841 he observed this type of epilepsy in his own son, who was approximately four
months old at the time. He published his observations from a scientific perspective in an article in The
Lancet. He named the seizures "Salaam Tics" at the time.

References
1. ^ Iannetti, Paola; Alberto Spalice, Francesco Massimo Perla, Elena Conicella, Umberto Raucci, and Barbara
Bizzarri (October 2000). "Visual Field Constriction in Children With Epilepsy on Vigabatrin Treatment".
Pediatrics 106 (4): 838-42. PubMed.
2. ^ Nordli Jr, Douglas R.; Maxine M. Kuroda, Joanne CarrollDagger, Dorcas Y. KoenigsbergerDagger, Lawrence
J. Hirsch, Harlan J. Brunerparallel, William T. Seidel, and Darryl C. De Vivo (2002). "Experience With the
Ketogenic Diet in Infants". Pediatrics 108 (1): 129-133. PubMed.
3. ^ Kossoff, Eric H.; Paula L. Pyzik, Jane R. McGrogan, Eileen P. G. Vining, and John M. Freeman (May 2001).
"Efficacy of the Ketogenic Diet for Infantile Spasms". Pediatrics 109 (5): 780-783. PubMed.

Schropp, Christian: Myelinisierungsverzögerung bei Kindern mit West-Syndrom in der

Magnetresonanztherapie (Munich University of Technology, dissertation, 1997)
Tracy A Glauser; Diego A Morita (2006-04-10). Infantile Spasm (West Syndrome)
(http://www.emedicine.com/neuro/topic171.htm) . eMedicine. WebMD. Retrieved on 2006-07-03.
Infantile Spasms (West Syndrome) (http://www.epilepsy.org.uk/info/infantile.html) . Epilepsy
Information (Children). Epilepsy Action. Retrieved on 2006-07-03.
Michael Wong. Infantile Spasm
(http://www.neuro.wustl.edu/epilepsy/pediatric/articleInfantileSpasms.html) . Pediatric Epilepsy
Center. Washington University. Retrieved on 2006-07-10.

Much of this article is translated from the German wikipedia article

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Retrieved from "http://en.wikipedia.org/wiki/West_syndrome"

Categories: Neurological disorders | Syndromes | Epilepsy

This page was last modified on 15 February 2008, at 18:07.

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