West syndrome - Wikipedia, the free encyclopediahttp://en.wikipedia.org/w/index.php?title=West_syndrome&printable=ye1 of 601/04/2008 12:36 PM

West syndrome

Classification & external resources

ICD-10

G40.4(http://www.who.int/classifications/apps/icd/icd10online/?gg40.htm+g404)

ICD-9

345.6 (http://www.icd9data.com/getICD9Code.ashx?icd9=345.6)

DiseasesDB

6788 (http://www.diseasesdatabase.com/ddb6788.htm)

eMedicine

neuro/171 (http://www.emedicine.com/neuro/topic171.htm)

MeSH

D013036(http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D013036)

West syndrome

From Wikipedia, the free encyclopedia

West syndrome

,otherwise knownas infantilespasms, is anuncommon to rareand serious formof epilepsy ininfants. It isnamed after theEnglish physician,William James West (1793-1848), who first described it in an article published in The Lancet in 1841. Othernames for it are "Generalized Flexion Epilepsy", "Infantile Epileptic Encephalopathy", "Infantile MyoclonicEncephalopathy", "jackknife convulsions", "Massive Myoclonia" and "Salaam spasms". The name "infantilespasms" 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, generallymanifesting around the fifth month. There are various causes ("polyetiology"). The syndrome is often causedby an organic brain dysfunction whose origins may be prenatal, perinatal (caused during birth) or postnatal.

Contents

1 Search Names2 Prevalence3 Causes3.1 Symptomatic3.1.1 West syndrome in Down syndrome babies3.2 Cryptogenic3.3 Idiopathic4 Clinical presentation5 Therapy6 Prognosis7 History8 References

Search Names

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

West syndrome - Wikipedia, the free encyclopediahttp://en.wikipedia.org/w/index.php?title=West_syndrome&printable=yeof 601/04/2008 12:36 PM

West SydromeInfantile SpasmsThese search terms tend to lead onto a great many other websites of support groups, personal pages of thosewho have been cured and those with ongoing struggles to tell. Also, there will be sites of further researchstudies being performed and information of doctors around the globe who may be of assistance. Each case isunique in its own way, what works for one may not work for all, but there is so much to lose for notsearching 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 ratioof around 3:2. In 45 out of every 50 children affected, the spasms appear for the first time between the thirdand the twelfth month of age. In rarer cases, spasms may occur in the first two months or during the secondto fourth year of age.

Causes

It is still unknown which bio-chemical mechanisms lead to the occurrence of West syndrome. It isconjectured that it is a malfunction of the neurotransmitter function, or more precisely, a malfunction in theregulation 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. Bothhypotheses 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 manifestas 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. Thisincludes:microcephalycortical dysplasiacerebral atrophylissencephalybacterial meningitisphakomatosis (e.g. Bourneville's disease)Aicardi syndrometuberous sclerosiscephalhematoma andvascular malformation.Furthermore, other causes increasingly being named in the literature are:Incontinentia pigmentiFoix-Chavany-Marie syndromePatau syndrome (trisomy 13)Sturge-Weber syndromeneurometabolic diseasescongential infections (e.g. Cytomegalovirus)hypoglycemiabrain damage due to asphyxiation or hypoxia (lack of oxygen, e.g. during birth), periventricularleukomalacia, cephalhematoma, cerebrovascular accident or brain damage of various types aswell as that caused by premature birth.

West syndrome - Wikipedia, the free encyclopediahttp://en.wikipedia.org/w/index.php?title=West_syndrome&printable=yeof 601/04/2008 12:36 PM

There are known cases in which the spasms occurred for the first time after vaccination againstMeasles, Mumps and Rubella or Tetanus, Pertussis, Diphtheria, Polio, Hepatitis B and Haemophilusinfluenzae Type B. However, stress of any kind is a common trigger for seizures, and theimmunization occurs during the time-frame in which many typical cases become conspicuous. Thereis no causal relationship between immunization and West syndrome, since in many cases Westsyndrome 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. Whereasthis form of epilepsy is relatively difficult to treat in children who do not have the chromosomal differencesinvolved in Down's syndrome, the syndrome often affects those who do far more mildly and they often reactbetter to medication. The German Down Syndrom InfoCenter (http://www.ds-infocenter.de/) noted in 2003that 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'ssyndrome are less likely to go on to develop Lennox-Gastaut syndrome or other forms of epilepsy than thosewithout additional hereditary material on the 21st chromosome. The reason why it is easier to treat childrenwith Down's syndrome is not known.

Cryptogenic

When a direct cause cannot be determined but the children has other neurological disorder, the case isreferred to as

cryptogenic

West syndrome, where an underlying cause is most likely but even with ourmodern means cannot be detected.Sometimes multiple children within the same family develop West syndrome. In this case it is also referredto as

cryptogenic

, in which genetic and sometimes hereditary influences play a role. There are known casesin which West syndrome appears in successive generations in boys; this has to do with X-chromosomalheredity.

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 therapyno pathological findings in neurological or neuroradiological studiesno evidence of a trigger for the spasmsThose 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 thebody in split seconds, and the legs in particular are bent (flexor muscle convulsions here are generallymore severe than extensor ones).

Nodding attacks

: Convulsions of the throat and neck flexor muscles, during which the chin is fitfully