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Infantile Spasm (West Syndrome) Clinical Presentation

  • Author: Tracy A Glauser, MD; Chief Editor: Amy Kao, MD  more...
 
Updated: Oct 16, 2014
 

History

Ictal manifestations

Spasms begin with a sudden, rapid, tonic contraction of trunk and limb musculature that gradually relaxes over 0.5-2 seconds. Contractions can last 5-10 seconds. The intensity of spasms may vary from a subtle head nodding to a powerful contraction of the body. Infantile spasms usually occur in clusters, often several dozen, separated by 5-30 seconds. Spasms frequently occur just before sleep or upon awakening. They can be observed during sleep, although this is rare.

Spasms can be flexor, extensor, or a mixture of flexion and extension. Flexor spasms consist of brief contractions of the flexor muscles of the neck, trunks, and limbs, resulting in a brief jerk. They may resemble a self-hugging motion and often are associated with a cry. The patient then relaxes, and the jerk repeats. These attacks occur in clusters throughout the day and last anywhere from less than 1 minute to 10-15 minutes or longer in some patients.

Extensor spasms consist of contractions of the extensor musculature, with sudden extension of the neck and trunk and with extension and abduction of the limbs. Extensor spasms and asymmetrical or unilateral spasms often are associated with symptomatic cases.

Mixed spasms are the most common type, consisting of flexion of the neck and arms and extension of the legs or of flexion of the legs and extension of the arms. In different series, the frequency of the 3 spasm types were 42-50% mixed, 34-42% flexor, and 19-23% extensor.

Interictal manifestations

An arrest or regression of psychomotor development accompanies the onset of spasms in 70-95% of patients.

Family history

A family history of infantile spasms is uncommon, but as many as 17% of patients may have a family history of any epilepsy.

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Physical Examination

General physical examination

Physical examination can be important in helping to identify specific etiologies that may have a combination of systemic and neurologic symptoms (eg, tuberous sclerosis complex). However, a patient with infantile spasms often has normal findings on general physical examination, and no pathognomonic physical findings are present in patients with infantile spasms.

Patients may exhibit moderate to severe growth delay, but this is a nonspecific finding that is more a reflection of the underlying brain injury than of a specific epilepsy syndrome.

Nonetheless, if certain abnormalities in the general physical examination are noted (eg, adenoma sebaceum, ash leaf macules), specific etiologies may be suggested.

Neurologic examination

The neurologic examination in patients with infantile spasms demonstrates abnormalities in mental status function, specifically delays in developmental milestones consistent with developmental delay or regression. However, no pathognomonic findings are present on neurologic examination in patients with infantile spasms.

Abnormalities in level of consciousness, cranial nerve function, and motor/sensory/reflex examination are nonspecific findings and more a reflection of the underlying brain injury or the effect of anticonvulsant medications than of the syndrome.

Ophthalmic examination

Ophthalmic examination may reveal chorioretinitis from congenital infections, chorioretinal lacunar defects in patients with Aicardi syndrome, or retinal tubers in patients with tuberous sclerosis.

Dermatologic examination

Use a Wood lamp to examine the skin. Tuberous sclerosis is the single most common recognizable cause of West syndrome. Therefore, a careful examination of the skin for the characteristic hypopigmented lesions of tuberous sclerosis is mandatory. The unaided bedside identification of these lesions may be more difficult in patients with a light complexion.

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Contributor Information and Disclosures
Author

Tracy A Glauser, MD Professor, Departments of Pediatrics and Neurology, University of Cincinnati College of Medicine; Director, Comprehensive Epilepsy Center, Co-Director, Genetic Pharmacology Service, Cincinnati Children's Hospital Medical Center

Tracy A Glauser, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, Child Neurology Society

Disclosure: Received consulting fee from Eisai for consulting; Received consulting fee from Lundbeck for consulting; Received consulting fee from Questcor for consulting; Received consulting fee from ucb Pharma for consulting; Received consulting fee from Supernus for consulting; Received honoraria from Supernus for speaking and teaching; Received consulting fee from Sunovion for consulting; Received royalty from AssureRx for license; Received consulting fee from Upsher-Smith for consulting; Received consul.

Coauthor(s)

Selim R Benbadis, MD Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Medical Association, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cyberonics; Eisai; Lundbeck; Sunovion; UCB; Upsher-Smith<br/>Serve(d) as a speaker or a member of a speakers bureau for: Cyberonics; Eisai; Glaxo Smith Kline; Lundbeck; Sunovion; UCB<br/>Received research grant from: Cyberonics; Lundbeck; Sepracor; Sunovion; UCB; Upsher-Smith.

Diego A Morita, MD Assistant Professor of Pediatrics and Neurology, Department of Pediatrics, Division of Neurology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine

Diego A Morita, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Medical Association

Disclosure: Nothing to disclose.

Karen Mary Stannard, MD FRCPC

Karen Mary Stannard, MD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.

Acknowledgements

Robert J Baumann, MD Professor of Neurology and Pediatrics, Department of Neurology, University of Kentucky College of Medicine

Robert J Baumann, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, and Child Neurology Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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Mountainous, chaotic, disorganized rhythms with superimposed multifocal spikes demonstrating hypsarrhythmia in a boy aged 8 months with infantile spasms and developmental delay. Courtesy of E Wyllie.
 
 
 
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