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Historical note and nomenclature

The first description of the phenomenology of epileptic spasms was given in 1841 by West, who described the condition in his proper son (West 1841). He mentioned that the movements were brief, flexor and axial, mainly involving the neck, and occurring in clusters. He recognized the condition as being a “convulsion.” Over the following 80 years, isolated cases were reported, altogether, 68 before 1941, but Zellweger suspected a higher incidence since he could collect 32 cases from his personal experience (Zellweger 1948). A great number of names was given to the condition, including “salaam convulsions,” “Komplimentierkrämpfe,” “spasmes salutatoires,” “lightning major seizures,” “startle seizures,” and even, the most dreadful from the nosological point of view, “tics.” Zellweger called them “Blitz-, nick- und Salaamkrämpfe,” synthesizing the previous concepts (Zellweger 1948).

In the 1950s EEG changed the understanding of the condition and its epileptic nature could be confirmed (Vazquez and Turner 1951), but it is not before polygraphic studies that the distinction between 2 types of epileptic jerks (respectively massive myoclonus and spasms) could be made, only the first one being applied the term “myoclonus,” the second one “spasms” (Gastaut and Remond 1952). The same year, the usual interictal EEG tracing associated with spasms was described under the label “hypsarrhythmia” (Gibbs and Gibbs 1952). From then on, the combination of infantile spasms with cognitive deterioration and hypsarrhythmia was called West syndrome.

The interest was significantly increased by the discovery of the effect of steroids (Sorel and Dusaucy-Bauloye 1958).

Recognition of the diversity of etiology was the next step, comprising pre-, peri- and postnatal causes. Neuroradiology contributed to disclose tuberous sclerosis as a frequent cause (Pampiglione and Pugh 1975), and to identify specific causes such as Aicardi syndrome (Aicardi et al 1969) or lissencephaly-pachygyria, and more recently, focal cortical dysplasia (Chugani et al 1990). Inborn errors of metabolism, particularly Menkes disease in which infantile spasms are a constant feature in the course of the disease, and chromosomal deletions or gene mutations have been added to the list. However, a number of cases still remain cryptogenic, thus suspected to be symptomatic, although no cause can be identified. In a small proportion, there seems to be no brain damage, the patients experience total recovery, including from the developmental point of view, and these cases are, therefore, considered idiopathic (Jambaque et al 1993).

Detailed EEG recordings demonstrated that the interictal tracing was variable (Gastaut et al 1964), and were determined by the etiology (Dulac et al 1994), and that the ictal pattern also varied, with spasms in clusters, independent spasms, and spasms combined with a focal discharge within a single ictal event (Bour et al 1986). In addition, some patients exhibit clusters of periodic spasms without major interictal EEG paroxysmal activity (Gobbi et al 1987).

The combination of neuropsychology and functional imaging with SPECT and PET showed that there was involvement of the cortex, mainly in its posterior aspect (Jambaque et al 1993) or in both temporal areas (Chugani et al 1990; 1992). This could account for autistic behavior that is so frequent in this condition, and that the age of onset coincided with the maturation of posterior areas of the cortex.

The ability of steroids or other treatments to prevent cognitive deterioration has long been disputed (Jeavons et al 1973). However, vigabatrin not only contributed to the control of spasms but also to the improvement of cognitive outcome, particularly in tuberous sclerosis (Jambaque et al 2000). In Down syndrome, prevention of chronic epilepsy and of autistic features require that effective treatment is given within the first 2 months of the disorder (Elterman et al 2001). Thus, West syndrome is, therefore, the only type of epilepsy in which antiepileptogenic, not only antiepileptic effect of therapy has been shown.

Clinical manifestations

Spasms consist of brief massive contractions of the axial musculature, that may be in flexion, extension, or mixed. They last a fraction of a second but recur in clusters of 5 to 50, several clusters occurring each day, often on awakening. They may be symmetrical or asymmetrical, with lateral deviation of the eyes or head, or involving only one side of the body. Spasms may be restricted to brief upward deviation of the eyes, and it may be difficult to identify them. Sometimes, the cluster is preceded by an arrest of activity, as if the child was preparing the series. The child often cries after each spasm.

The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including at the end of the first decade.

Clinical vignette

For the past 2 weeks, a 6-month-old infant, with previously normal development and no peri- or postnatal history of neurologic dysfunction, experienced episodes of brief axial flexion of the body occurring in clusters, followed by crying. The eye contact had deteriorated and the axial tone was not as good as it had previously been. An EEG obtained during wakefulness and sleep confirmed the diagnosis of West syndrome.

Following Herpes encephalitis at the age of 16 months, a child suffered from the age of 3 years from drop attacks occurring several times a day, together with deterioration of interpersonal communication.

Localization

There are presently no data that would permit the determination of the site of origin of epileptic spasms. It is clear, however, that subcortical structures contribute to their occurrence, possibly basal ganglia, as a consequence of cortical dysfunction (Dulac et al 1987; Chugani et al 1990; 1992).

Pathophysiology

During a spasm, there is rapidly increasing amplitude of the muscular activity followed by rapidly decreasing amplitude, as measured by EMG (Fusco and Vigevano 1993). The EEG shows either high amplitude slow wave or low amplitude rapid rhythms. In some cases, the EEG may also record focal discharges that precede, follow, or occur in combination with the cluster of spasms, thus confirming that a cluster of spasms may be driven by ictal cortical activity (Bour et al 1986; Carrazana et al 1990).

Differential diagnosis

The distinction of epileptic spasms may be difficult and often needs polygraphic recording, showing the combination of EMG and EEG ictal events. It is, thus, possible to distinguish them from nonepileptic spasms in which the ictal and interictal EEG tracings are normal (Lombroso and Fejerman 1977). Other epileptic seizures resembling spasms are massive myoclonus that is more brief and is combined with a generalized spike wave or polyspike wave, and tonic seizures that last longer and are not repeated in clusters. However, spasms in clusters and tonic seizures are often combined in the course of the disease. Some seizures may even begin with a tonic event and continue with a cluster of spasms.

Diagnostic workup

Diagnosis is based on the clinical description of the phenomenology, and sleep and waking EEG. This permits to distinguish epileptic spasms from nonepileptic spasms and from other types of epileptic seizures. Polygraphic recording is useful in unusual cases. In case the EEG is normal, a second recording including sleep should be performed 2 weeks later.

The next step is to identify the cause, that depends on history and radiological investigation. Treatment is a relative emergency, and should, therefore, be stared without waiting for total etiological workup in case some inborn error of metabolism is suspected for instance. Neuroradiology, ideally MRI but eventually CT, should be performed before onset of steroid therapy since the latter produces images of “atrophy” that would complicate the interpretation of the findings.

Syndromes and diseases in which the seizure type occurs

Epileptic spasms occur in West syndrome. They may persist when West syndrome has evolved to Lennox-Gastaut syndrome.

Prognosis and complications

The outcome depends of the cause and the ability to control the epilepsy. It is most variable.

Management

The management is that of West syndrome.

References cited

Aicardi J, Chevrie JJ, Rousselie F. Le syndrome spasmes en flexion, agénésie du corps calleux, anomalies choriorétiniennes. Arch Fr Pédiatr 1969;26:1103-20.

Bour F, Chiron C, Dulac O, Plouin P. Caractères électrocliniques des crises dans le syndrome d'Aicardi. Rev EEG Neurophysiol Clin 1986;16:341-53.

Carrazana J, Barlow JK, Holmes GL. Infantile spasms provoked by partial seizures. J Epilepsy 1990;3:97-100.

Chugani HT, Shewmon DA, Sankar R, Chen BC, Phelps ME. Infantile spasms: II. Lenticular nuclei and brain stem activation on positron emission tomography. Ann Neurol 1992;31(2):212-9.

Chugani HT, Shields WD, Shewmon DA, Olson DM, Phelps ME, Peacock WJ. Infantile spasms: I. PET identifies focal cortical dysgenesis in cryptogenic cases for surgical treatment. Ann Neurol 1990;27(4):406-13.

Dulac O, Chugani H, Dalla Bernardina H. Infantile spasms and West syndrome. London:Saunders, 1994

Dulac O, Raynaud C, Chiron C, Plouin P, Syrota A, Arthuis M. Etude du débit sanguin cérébral dans le syndrome de West idiopathique corrélations avec les données électroencéphalographiques. Rev EEG Neurophysiol. Clin 1987;17:169-82.

Elterman RD, Shields WD, Mansfield KA, Nakagawa J; US Infantile Spasms Vigabatrin Study Group. Randomized trial of vigabatrin in patients with infantile spasms. Neurology 2001;57(8):1416-21.

Fusco L, Vigevano F. Ictal clinical electroencephalographic findings of spasms in West syndrome. Epilepsia 1993:34(4):671-8.

Gastaut H, Remond A. Etude électroencéphalographique des myoclonies. Rev Neurol 1952;86:596-609.

Gastaut H, Roger J, Soulayrol R, Pinsard N. L'encéphalopathie myoclonique infantile avec hypsarythmie (syndrome de West). Paris, Masson, 1964.

Gibbs FA, Gibbs EL. Atlas of electroencephalography, Vol 2. Epilepsy. Realing:Addison-Wesley, 1952.

Gobbi G, Bruno L, Pini A, Giovanardi Rossi P, Tassinari CA. Periodic spasms: an unclassified type of epileptic seizure in childhood. Dev Med Child Neurol 1987;29(6):766-75.

Jambaque I, Chiron C, Dulac O, Raynaud C, Syrota P. Visual inattention in West syndrome: a neuropsychological and neurofunctional imaging study. Epilepsia 1993;34(4):692-700.

Jambaque I, Chiron C, Dumas C, Mumford J, Dulac O. Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients. Epilepsy Res 2000;38(2-3):151-60.

Jeavons PM, Bower BD, Dimitrakoudi M. Long-term prognosis of 150 cases of "West syndrome." Epilepsia 1973;14(2):153-64.

Lombroso CT, Fejerman N. Benign myoclonus of early infancy. Ann Neurol 1977;1(2):138-43.

Pampiglione G, Pugh E. Letter: Infantile spasms and subsequent appearance of tuberous sclerosis syndrome. Lancet 1975;2(7943):1046.

Sorel L, Dusaucy-Bauloye A. A propos de 21 cas d'hypsarythmie de Gibbs. Son traitement spectaculaire par l'ACTH. Acta Neurol Belg 1958;58:130-41.

Vazquez HJ, Turner M. Epilepsia en flexion generalizada. Arch Argentinos Pediatr 1951;35:111-41.

West WJ. On a particular form of infantile convulsions. Lancet 1841;1:724-5.

Zellweger H. Krämpfe in kindersalter. Helvet Pediatr Acta 1948;Suppl 5:1-195.

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Abbreviations

EEG:electroencephalogram

EMG:electromyogram

PET:positon emission tomography

SPECT:single photon emission computed tomography

Major keyword descriptors

hypsarrhythmia

lightning major seizures

myoclonus

spasms

startle seizures

Minor keyword descriptors

autism

autistic behavior

Blitzkrämpfe

chromosomal deletions

cognitive deterioration

cortical dysfunction

epilepsy

Komplimentierkrämpfe

nickrämpfe

salaam convulsions

salaam seizures

Salaamkrämpfe

seizures

spasmes salutatoires

tics

Age of presentation

0-12 years

Age of typical presentation

3-12 months

Associated disorders

Aicardi syndrome

chromosomal deletions

Early myoclonic encephalopathy

Focal cortical dysplasia

gene mutations

inborn errors of metabolism

Lennox-Gastaut syndrome

Menkes disease

Miller-Dieker syndrome and classic lissencephaly

Ohtahara syndrome

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy

Tuberous sclerosis complex

West syndrome

Secondary Review

Completed by SD on 11/17/2003

Permutations

Epileptic spasms including infantile spasms

spasms including infantile spasms, Epileptic

infantile spasms, Epileptic spasms including

spasms, Epileptic spasms including infantile

Related topics

Epilepsy

Differential diagnosis

benign myoclonic epilepsy in infancy

benign nonepileptic infantile spasms

massive bilateral myoclonus

tonic seizures