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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


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.


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.

Contributor Information and Disclosures

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.


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.


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

  1. Taghdiri MM, Nemati H. Infantile spasm: a review article. Iran J Child Neurol. 2014 Summer. 8(3):1-5. [Medline]. [Full Text].

  2. Pies NJ, Beardsmore CW. West & West syndrome--a historical sketch about the eponymous doctor, his work and his family. Brain Dev. 2003 Mar. 25(2):84-101. [Medline].

  3. West WJ. Infantile spasm. Lancet. 1841. 1:724.

  4. Wang J, Wang J, Zhang Y, Yang G, Shang AJ, Zou LP. Proteomic analysis on infantile spasm and prenatal stress. Epilepsy Res. 2014 Sep. 108(7):1174-83. [Medline].

  5. Stafstrom CE. Animal models of infantile spasms: is the holy grail finally in sight?. Epilepsy Curr. 2008 Sep-Oct. 8(5):131-3. [Medline].

  6. Zupanc ML. Infantile spasms. Expert Opin Pharmacother. 2003 Nov. 4(11):2039-48. [Medline].

  7. Karvelas G, Lortie A, Scantlebury MH, Duy PT, Cossette P, Carmant L. A retrospective study on aetiology based outcome of infantile spasms. Seizure. 2009 Apr. 18(3):197-201. [Medline].

  8. Lux AL, Osborne JP. The influence of etiology upon ictal semiology, treatment decisions and long-term outcomes in infantile spasms and West syndrome. Epilepsy Res. 2006 Aug. 70 Suppl 1:S77-86. [Medline].

  9. Goh S, Kwiatkowski DJ, Dorer DJ. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology. 2005 Jul 26. 65(2):235-8. [Medline].

  10. Saemundsen E, Ludvigsson P, Rafnsson V. Autism spectrum disorders in children with a history of infantile spasms: a population-based study. J Child Neurol. 2007 Sep. 22(9):1102-7. [Medline].

  11. Saemundsen E, Ludvigsson P, Rafnsson V. Risk of autism spectrum disorders after infantile spasms: a population-based study nested in a cohort with seizures in the first year of life. Epilepsia. 2008 Nov. 49(11):1865-70. [Medline].

  12. Endoh F, Yoshinaga H, Ishizaki Y, Oka M, Kobayashi K, Ohtsuka Y. Abnormal fast activity before the onset of West syndrome. Neuropediatrics. 2011 Feb. 42(2):51-4. [Medline].

  13. Parisi P, Bombardieri R, Curatolo P. Current role of vigabatrin in infantile spasms. Eur J Paediatr Neurol. 2007 Nov. 11(6):331-6. [Medline].

  14. Wheless JW, Clarke DF, Arzimanoglou A, Carpenter D. Treatment of pediatric epilepsy: European expert opinion, 2007. Epileptic Disord. 2007 Dec. 9(4):353-412. [Medline].

  15. Peltzer B, Alonso WD, Porter BE. Topiramate and adrenocorticotropic hormone (ACTH) as initial treatment for infantile spasms. J Child Neurol. 2009 Apr. 24(4):400-5. [Medline].

  16. Caraballo R, Vaccarezza M, Cersósimo R, Rios V, Soraru A, Arroyo H, et al. Long-term follow-up of the ketogenic diet for refractory epilepsy: multicenter Argentinean experience in 216 pediatric patients. Seizure. 2011 Oct. 20(8):640-5. [Medline].

  17. Eun SH, Kang HC, Kim DW, Kim HD. Ketogenic diet for treatment of infantile spasms. Brain Dev. 2006 Oct. 28(9):566-71. [Medline].

  18. Kossoff EH, Hedderick EF, Turner Z, Freeman JM. A case-control evaluation of the ketogenic diet versus ACTH for new-onset infantile spasms. Epilepsia. 2008 Sep. 49(9):1504-9. [Medline].

  19. Baram TZ, Mitchell WG, Tournay A, et al. High-dose corticotropin (ACTH) versus prednisone for infantile spasms: a prospective, randomized, blinded study. Pediatrics. 1996 Mar. 97(3):375-9. [Medline].

  20. Mackay M, Weiss S, Snead OC. Treatment of infantile spasms: an evidence-based approach. Int Rev Neurobiol. 2002. 49:157-84. [Medline].

  21. Kondo Y, Okumura A, Watanabe K. Comparison of two low dose ACTH therapies for West syndrome: their efficacy and side effect. Brain Dev. 2005 Aug. 27(5):326-30. [Medline].

  22. Hrachovy RA, Frost JD Jr, Kellaway P, et al. Double-blind study of ACTH vs prednisone therapy in infantile spasms. J Pediatr. 1983 Oct. 103(4):641-5. [Medline].

  23. Kivity S, Lerman P, Ariel R. Long-term cognitive outcomes of a cohort of children with cryptogenic infantile spasms treated with high-dose adrenocorticotropic hormone. Epilepsia. 2004 Mar. 45(3):255-62. [Medline].

  24. Aicardi J, Mumford JP, Dumas C, et al. Vigabatrin as initial therapy for infantile spasms: a European retrospective survey. Sabril IS Investigator and Peer Review Groups. Epilepsia. 1996 Jul. 37(7):638-42. [Medline].

  25. Riikonen RS. Favourable prognostic factors with infantile spasms. Eur J Paediatr Neurol. 2009 Apr 10. [Medline].

  26. Appleton RE, Peters AC, Mumford JP, et al. Randomised, placebo-controlled study of vigabatrin as first-line treatment of infantile spasms. Epilepsia. 1999 Nov. 40(11):1627-33. [Medline].

  27. Hancock E, Osborne JP. Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review. J Child Neurol. 1999 Feb. 14(2):71-4. [Medline].

  28. Fejerman N, Cersosimo R, Caraballo R, et al. Vigabatrin as a first-choice drug in the treatment of West syndrome. J Child Neurol. 2000 Mar. 15(3):161-5. [Medline].

  29. Nielsen JC, Kowalski KG, Karim A, Patel M, Wesche DL, Tolbert D. Population Pharmacokinetics Analysis of Vigabatrin in Adults and Children with Epilepsy and Children with Infantile Spasms. Clin Pharmacokinet. 2014 Aug 30. [Medline].

  30. Blennow G, Starck L. High dose B6 treatment in infantile spasms. Neuropediatrics. 1986 Feb. 17(1):7-10. [Medline].

  31. Pietz J, Benninger C, Schafer H, et al. Treatment of infantile spasms with high-dosage vitamin B6. Epilepsia. 1993 Jul-Aug. 34(4):757-63. [Medline].

  32. Ito M, Seki T, Takuma Y. Current therapy for West syndrome in Japan. J Child Neurol. 2000 Jun. 15(6):424-8. [Medline].

  33. Debus OM, Kurlemann G. Sulthiame in the primary therapy of West syndrome: a randomized double-blind placebo-controlled add-on trial on baseline pyridoxine medication. Epilepsia. 2004 Feb. 45(2):103-8. [Medline].

  34. Veggiotti P, Cieuta C, Rex E, et al. Lamotrigine in infantile spasms [letter]. Lancet. 1994 Nov 12. 344(8933):1375-6. [Medline].

  35. Cianchetti C, Pruna D, Coppola G. Low-dose lamotrigine in West syndrome. Epilepsy Res. 2002 Sep. 51(1-2):199-200. [Medline].

  36. Glauser TA, Clark PO, Strawsburg R. A pilot study of topiramate in the treatment of infantile spasms. Epilepsia. 1998 Dec. 39(12):1324-8. [Medline].

  37. Hosain SA, Merchant S, Solomon GE, Chutorian A. Topiramate for the treatment of infantile spasms. J Child Neurol. 2006 Jan. 21(1):17-9. [Medline].

  38. Yanagaki S, Oguni H, Yoshii K. Zonisamide for West syndrome: a comparison of clinical responses among different titration rate. Brain Dev. 2005 Jun. 27(4):286-90. [Medline].

  39. Yamauchi T, Aikawa H. Efficacy of zonisamide: our experience. Seizure. 2004 Dec. 13 Suppl 1:S41-8; discussion S49. [Medline].

  40. Gümüs H, Kumandas S, Per H. Levetiracetam monotherapy in newly diagnosed cryptogenic West syndrome. Pediatr Neurol. 2007 Nov. 37(5):350-3. [Medline].

  41. Partikian A, Mitchell WG. Major adverse events associated with treatment of infantile spasms. J Child Neurol. 2007 Dec. 22(12):1360-6. [Medline].

  42. Lux AL, Edwards SW, Hancock E. The United Kingdom Infantile Spasms Study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial. Lancet. 2004 Nov 13-19. 364(9447):1773-8. [Medline].

  43. Lux AL, Edwards SW, Hancock E. The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months: a multicentre randomised trial. Lancet Neurol. 2005 Nov. 4(11):712-7. [Medline].

  44. Hammoudi DS, Lee SS, Madison A. Reduced visual function associated with infantile spasms in children on vigabatrin therapy. Invest Ophthalmol Vis Sci. 2005 Feb. 46(2):514-20. [Medline].

  45. Mackay MT, Weiss SK, Adams-Webber T. Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society. Neurology. 2004 May 25. 62(10):1668-81. [Medline].

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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