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Current thumbnail: Epileptic spasms are axial movements longer than myoclonus and shorter than tonic seizures that occur either in clusters or periodically. Most often they belong to the West syndrome in addition to hypsarrhythmia and psychomotor deterioration, in the first year of life. However, they may occur later in life, into adulthood, with a periodic pattern, as a manifestation of epilepsy or of a subacute encephalitis. Although their precise site of origin is not established, some subcortical structure is involved.

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. Hypsarrhythmia was soon considered as more heterogeneous than previously believed (Gastaut et al 1964).
The interest was significantly increased by the discovery of the effect of steroids (Sorel and Dusaucy-Bauloye 1958).

The existence of epileptic spasms apart from West syndrome has been progressively identified. Clusters of spasms may affect the infant without hypsarrhythmia (Gobbi et al 1987), and this condition is now known to carry poorer prognosis, being generally refractory to AEDs (Caraballo et al 2003). Epileptic spasms occurring periodically are now recognized in childhood, adolescence, and adulthood (Tinuper et al 2003).

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 (Bahi-Buisson in press), 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). The significance of the latter is less severe than previously believed (Pachatz et al 2003).

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 (Eisermann et al 2003). 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 into adulthood.

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 showed hypsarrhythmia, which 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. Ictal EEG recording showed that the drop attacks were due to epileptic spasms.

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 are more brief and 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 may affect a given child. 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. They are the characteristic event that generates drop attacks in subacute sclerosing panencephalitis.

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.

Bahi-Buisson N, Kaminska A, Nabbout R, et al. Epilepsy in Menkes disease: an original three-step course. Epilepsia. In press.

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.

Eisermann MM, de la Raillere A, Dellatolas G, et al. Infantile spasms in Down syndrome--effects of delayed anticonvulsive treatment. Epilepsy Res 2003;55(1-2):21-7.

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.

Pachatz C, Fusco L, Vigevano F. Epileptic spasms and partial seizures as a single ictal event. Epilepsia 2003;44(5):693-700.

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.

Tinuper P, D’Orsi G, Bisulli F, Zaniboni A, piraccini A, Bernardi B, Baruzzi A. Malformations of cortical development in adult patients. Epileptic disorders 2003 ; 5 suppl 2 : S85-90.

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

Related Topics
Epilepsy

Differential Diagnosis
benign myoclonic epilepsy in infancy
benign nonepileptic infantile spasms
massive bilateral myoclonus
tonic seizures

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