infantile spasms


Summary: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)

Top Publications

  1. Caraballo R, Fejerman N, Bernardina B, Ruggieri V, Cersosimo R, Medina C, et al. Epileptic spasms in clusters without hypsarrhythmia in infancy. Epileptic Disord. 2003;5:109-13 pubmed
    ..spasms in clusters without hypsarrhythmia that start in the first year of life represent a subtype of infantile spasms that generally are refractory to AEDs...
  2. Erol I, Alehan F, Gümüş A. West syndrome in an infant with vitamin B12 deficiency in the absence of macrocytic anaemia. Dev Med Child Neurol. 2007;49:774-6 pubmed
    ..When she was 20 months old she exhibited an age-appropriate developmental and neurological profile. To our knowledge, this is the first report of West syndrome as a presenting symptom of vitamin B(12) deficiency. ..
  3. Parisi P, Bombardieri R, Curatolo P. Current role of vigabatrin in infantile spasms. Eur J Paediatr Neurol. 2007;11:331-6 pubmed
    ..of gamma-aminobutyric acid transaminase, has proved to be effective against cryptogenic and symptomatic infantile spasms (IS)...
  4. Poirier K, Eisermann M, Caubel I, Kaminska A, Peudonnier S, Boddaert N, et al. Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy. Epilepsy Res. 2008;80:224-8 pubmed publisher the ARX gene are responsible for a wide variety of mental retardation conditions including X-linked infantile spasms (ISSX) and generalized dystonia...
  5. Lux A, Edwards S, Hancock E, Johnson A, Kennedy C, Newton R, et al. 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;4:712-7 pubmed
    b>Infantile spasms is a severe infantile seizure disorder that is difficult to treat and has a high morbidity...
  6. Chuang M, Harnod T, Wang P, Chen Y, Hsin Y. Effect of multiple subpial transection on patients with uncontrolled atypical infantile spasms. Epilepsia. 2006;47:659-60 pubmed
    We report a favorable outcome of multiple sub-pial transaction (MST) in two patients who had intractable atypical infantile spasms preceded by partial seizures, without any lateralized magnetic resonance imaging (MRI) abnormalities.
  7. Camfield P, Camfield C, Lortie A, Darwish H. Infantile spasms in remission may reemerge as intractable epileptic spasms. Epilepsia. 2003;44:1592-5 pubmed
    West syndrome consists of infantile spasms with hypsarrhythmia and is perceived as a disorder of infants. We describe 10 patients with West syndrome with spasms that remitted, started again, and persisted (followed up for 8-25 years)...
  8. Azam M, Bhatti N, Krishin J. Use of ACTH and prednisolone in infantile spasms: experience from a developing country. Seizure. 2005;14:552-6 pubmed
    Adrenocorticotrophic hormone (ACTH) and prednisone are both used to treat infantile spasms (IS) in West syndrome...
  9. Osborne J, Lux A, Edwards S, Hancock E, Johnson A, Kennedy C, et al. The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification. Epilepsia. 2010;51:2168-74 pubmed publisher
    To examine the underlying etiology of infantile spasms from the United Kingdom Infantile Spasms Study (UKISS), using the pediatric adaptation of ICD 10...

More Information


  1. Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L, et al. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem. 2006;281:32048-56 pubmed
    ..kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental retardation...
  2. Riikonen R. The latest on infantile spasms. Curr Opin Neurol. 2005;18:91-5 pubmed
    ..There are insufficient data to recommend any treatment schedule for infantile spasms. Vigabatrin is the choice for infants with tuberous sclerosis...
  3. Shields W. Diagnosis of infantile spasms, Lennox-Gastaut syndrome, and progressive myoclonic epilepsy. Epilepsia. 2004;45 Suppl 5:2-4 pubmed
    ..b>Infantile spasms, Lennox-Gastaut syndrome, and the progressive myoclonic epilepsies are correlated with significant disability ..
  4. Gumus H, Kumandas S, Per H. Levetiracetam monotherapy in newly diagnosed cryptogenic West syndrome. Pediatr Neurol. 2007;37:350-3 pubmed
    ..There were no relapses in the two patients at 6 months after the cessation of seizures. It appears that levetiracetam may be effective in the initial treatment of selected patients with cryptogenic West syndrome. ..
  5. Guerrini R, Moro F, Kato M, Barkovich A, Shiihara T, McShane M, et al. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 2007;69:427-33 pubmed
    ..truncation mutations and missense mutations in the homeobox; nonmalformation phenotypes, including X-linked infantile spasms (ISS), are associated with missense mutations outside of the homeobox and expansion of the PolyA tracts...
  6. Masruha M, Caboclo L, Carrete H, Cendes I, Rodrigues M, Garzon E, et al. Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. Epilepsia. 2006;47:211-4 pubmed
    ..The current studies show that FLNA mutations can cause periventricular heterotopia, developmental regression, and West syndrome in male patients, suggesting that this type of FLNA mutation may contribute to severe neurologic deficits. ..
  7. Mackay M, Weiss S, Adams Webber T, Ashwal S, Stephens D, Ballaban Gill K, et al. Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society. Neurology. 2004;62:1668-81 pubmed
    To determine the current best practice for treatment of infantile spasms in children. Database searches of MEDLINE from 1966 and EMBASE from 1980 and searches of reference lists of retrieved articles were performed...
  8. Primec Z, Stare J, Neubauer D. The risk of lower mental outcome in infantile spasms increases after three weeks of hypsarrhythmia duration. Epilepsia. 2006;47:2202-5 pubmed
    To assess the correlation between hypsarrhythmia duration and mental outcome in infantile spasms (IS) the medical records of 48 infants with IS were reviewed retrospectively and psychological assessments undertaken at follow-up at the age ..
  9. Gutierrez Delicado E, Serratosa J. Genetics of the epilepsies. Curr Opin Neurol. 2004;17:147-53 pubmed
    ..The serine-threonine kinase 9 gene (STK9) was identified as the second gene associated with X-linked infantile spasms. Mutations in the Aristaless-related homeobox gene (ARX) have been recognized as a cause of X-linked ..
  10. Zorn Olexa C, Laugel V, Martin A, Donato L, Fischbach M. Multiple intracranial tuberculomas associated with partial status epilepticus and refractory infantile spasms. J Child Neurol. 2008;23:459-62 pubmed publisher
    ..of the tuberculomas during antituberculous treatment and severe neurological sequelae with refractory infantile spasms. The development of infantile spasms in this context is particularly remarkable, and this case is ..
  11. Markand O. Lennox-Gastaut syndrome (childhood epileptic encephalopathy). J Clin Neurophysiol. 2003;20:426-41 pubmed
    ..Twenty percent of all patients with LGS have prior infantile spasms with hypsarrythmia. The characteristic interictal EEG pattern of LGS is 1.5 to 2...
  12. Guevara Campos J, González de Guevara L, Medina Atopo M. [Methylmalonic aciduria associated with myoclonic convulsions, psychomotor retardation and hypsarrhythmia]. Rev Neurol. 2003;36:735-7 pubmed
    ..The rareness of this clinical presentation with the characteristics described above make us suspect that we are dealing with a new clinical syndrome. ..
  13. Tekgul H, Polat M, Tosun A, Serdaroglu G, Kutukculer N, Gokben S. Cerebrospinal fluid interleukin-6 levels in patients with West syndrome. Brain Dev. 2006;28:19-23 pubmed
    ..objective of this study was to investigate the possible role of interleukin-6 (IL-6) in the pathogenesis of infantile spasms in West syndrome (WS)...
  14. Aicardi J. Aicardi syndrome. Brain Dev. 2005;27:164-71 pubmed
    Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and chorioretinal 'lacunae'. It occurs only in individuals with two X chromosomes and is not familial...
  15. Liu Z, He B, Fang F, Tang C, Zou L. Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms. Chin Med J (Engl). 2008;121:1627-32 pubmed
    b>Infantile spasms is a severe epileptic encephalopathy, which is refractory to conventional antiepileptic drugs...
  16. Kivity S, Lerman P, Ariel R, Danziger Y, Mimouni M, Shinnar S. Long-term cognitive outcomes of a cohort of children with cryptogenic infantile spasms treated with high-dose adrenocorticotropic hormone. Epilepsia. 2004;45:255-62 pubmed
    To evaluate the outcome of children with cryptogenic infantile spasms treated with high-dose synthetic adrenocorticotropic hormone (ACTH) and the relation between early treatment, within 1 month of onset, and outcome...
  17. Ibrahim S, Gulab S, Ishaque S, Saleem T. Clinical profile and treatment of infantile spasms using vigabatrin and ACTH--a developing country perspective. BMC Pediatr. 2010;10:1 pubmed publisher
    b>Infantile spasms represent a serious epileptic syndrome that occurs in the early infantile age. ACTH and Vigabatrin are actively investigated drugs in its treatment...
  18. Hirose S, Mitsudome A. X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. Brain Dev. 2003;25:161-5 pubmed
    ..These findings provide solid evidence for the relationship between MR and epilepsy at a molecular level, opening a new avenue for understanding the pathogeneses of MR associated with epilepsy. ..
  19. Partikian A, Mitchell W. Major adverse events associated with treatment of infantile spasms. J Child Neurol. 2007;22:1360-6 pubmed publisher
    ..and adverse events associated with natural adrenocorticotropic hormone injections for treatment of infantile spasms. Using a retrospective chart review of 130 patients, the authors compare major adverse events, weight and ..
  20. Lux A, Edwards S, Hancock E, Johnson A, Kennedy C, Newton R, et al. The United Kingdom Infantile Spasms Study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial. Lancet. 2004;364:1773-8 pubmed
    b>Infantile spasms, which comprise a severe infantile seizure disorder, have a high morbidity and are difficult to treat...
  21. Kröll Seger J, Kaminska A, Moutard M, de Saint Martin A, Guet A, Dulac O, et al. Severe relapse of epilepsy after vigabatrin withdrawal: for how long should we treat symptomatic infantile spasms?. Epilepsia. 2007;48:612-3 pubmed
  22. Ito H, Mori K, Inoue N, Kagami S. A case of Kabuki syndrome presenting West syndrome. Brain Dev. 2007;29:380-2 pubmed
    ..To the best of our knowledge, Kabuki syndrome presenting West syndrome has been reported in only one previous case. We must pay attention to the occurrence of West syndrome in Kabuki syndrome. ..
  23. D Arrigo S, Grazia B, Faravelli F, Riva D, Pantaleoni C. Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?. J Child Neurol. 2005;20:454-6 pubmed
    ..We present the case of a child with PEHO-like syndrome and underline the need for a careful follow-up of these patients to identify signs and symptoms that can have a later onset, such as optic atrophy. ..
  24. Dunin Wasowicz D, Kasprzyk Obara J, Jurkiewicz E, Kapusta M, Milewska Bobula B. Infantile spasms and cytomegalovirus infection: antiviral and antiepileptic treatment. Dev Med Child Neurol. 2007;49:684-92 pubmed
    From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2-12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs...
  25. Kang H, Jung D, Kim K, Hwang Y, Park S, Ko T. Surgical treatment of two patients with infantile spasms in early infancy. Brain Dev. 2006;28:453-7 pubmed
    ..We report two patients who had infantile spasms and underwent surgery for epilepsy in early infancy (younger than 6 months old)...
  26. Albsoul Younes A, Salem H, Ajlouni S, Al Safi S. Topiramate slow dose titration: improved efficacy and tolerability. Pediatr Neurol. 2004;31:349-52 pubmed
    ..We conclude that slow dose titration improves efficacy and tolerability of topiramate as add-on therapy in the treatment in refractory epilepsy. ..
  27. Ding Y, Zou L, He B, Yue W, Liu Z, Zhang D. ACTH receptor (MC2R) promoter variants associated with infantile spasms modulate MC2R expression and responsiveness to ACTH. Pharmacogenet Genomics. 2010;20:71-6 pubmed publisher
    Adrenocorticotropin hormone (ACTH) has been the standard treatment to infantile spasms (IS). However, the mechanism of ACTH therapy is still unclear. ACTH exerts the function via melanocortin 2 receptor (MC2R)...
  28. Oguni H, Yanagaki S, Hayashi K, Imai K, Funatsuka M, Kishi T, et al. Extremely low-dose ACTH step-up protocol for West syndrome: maximum therapeutic effect with minimal side effects. Brain Dev. 2006;28:8-13 pubmed
    ..The dose of ACTH required to control WS appears to be unexpectedly smaller than the dose we previously used. ..
  29. Eisermann M, Ville D, Soufflet C, Plouin P, Chiron C, Dulac O, et al. Cryptogenic late-onset epileptic spasms: an overlooked syndrome of early childhood?. Epilepsia. 2006;47:1035-42 pubmed
  30. Kato M, Das S, Petras K, Sawaishi Y, Dobyns W. Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology. 2003;61:267-76 pubmed
  31. Bahi Buisson N, Guttierrez Delicado E, Soufflet C, Rio M, Daire V, Lacombe D, et al. Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia. 2008;49:509-15 pubmed
    ..Thereafter, 20 patients (21.9%) developed infantile spasms with hypsarrhythmia, at a median age of 5 months...
  32. Yamamoto H, Sasamoto Y, Miyamoto Y, Murakami H, Kamiyama N. A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia. Pediatr Neurol. 2004;30:216-8 pubmed
    ..At the age of 2 months, he had a series of infantile spasms, and the electroencephalogram indicated hypsarrhythmia...
  33. Lotze T, Wilfong A. Zonisamide treatment for symptomatic infantile spasms. Neurology. 2004;62:296-8 pubmed
    The authors evaluated zonisamide for symptomatic infantile spasms in 23 patients. Spasm cessation, EEG evolution, and tolerability were assessed for a mean duration of 6.5 months...
  34. Venta Sobero J, Porras Kattz E, Gutierrez Moctezuma J. [West syndrome as an epileptic presentation in Menkes' disease. Two cases report]. Rev Neurol. 2004;39:133-6 pubmed
    ..One month later he had infantile spasms and hypsarrhythmia in the EEG...
  35. Miyama S, Goto T. Leptomeningeal angiomatosis with infantile spasms. Pediatr Neurol. 2004;31:353-6 pubmed
    We describe a 7-month-old female with leptomeningeal angiomatosis who developed infantile spasms. She did not manifest facial nevus or ocular choroidal angioma...
  36. Cortez M, Shen L, Wu Y, Aleem I, Trepanier C, Sadeghnia H, et al. Infantile spasms and Down syndrome: a new animal model. Pediatr Res. 2009;65:499-503 pubmed publisher
    b>Infantile spasms is a catastrophic childhood seizure disorder for which few animal models exist. Children with Down syndrome are highly susceptible to infantile spasms...
  37. Montelli T, Soares A, Peraçoli M. Immunologic aspects of West syndrome and evidence of plasma inhibitory effects on T cell function. Arq Neuropsiquiatr. 2003;61:731-7 pubmed
  38. Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, et al. Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. Brain Dev. 2008;30:349-55 pubmed
    ..are impaired visual attention, acquired microcephaly, spastic tetraplegia, profound psychomotor delay and infantile spasms since early infancy...
  39. Yanagaki S, Oguni H, Yoshii K, Hayashi K, Imai K, Funatsuka M, et al. Zonisamide for West syndrome: a comparison of clinical responses among different titration rate. Brain Dev. 2005;27:286-90 pubmed
    ..3 days). There were few side effects except for transient hyperthermia and gastrointestinal symptoms. Our new protocol of starting with 10 mg/kg of ZNS can be introduced safely and make a therapeutic judgment feasible within 2 weeks. ..
  40. Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet. 2007;81:361-6 pubmed
    ..Our observation that EIEE had a longer expansion of the polyalanine tract than is seen in West syndrome is consistent with the findings of earlier onset and more-severe phenotypes in EIEE than in West syndrome. ..
  41. RamachandranNair R, Ochi A, Akiyama T, Buckley D, Soman T, Weiss S, et al. Partial seizures triggering infantile spasms in the presence of a basal ganglia glioma. Epileptic Disord. 2005;7:378-82 pubmed
    b>Infantile spasms associated with brain tumors have been reported. A focal cortical lesion can induce infantile spasms by triggering the brainstem and basal ganglia in this vulnerable age group...
  42. Lawlor K, Devlin A. Levetiracetam in the treatment of infantile spasms. Eur J Paediatr Neurol. 2005;9:19-22 pubmed
    An 11-month-old infant with a 5-month history of seizures and a 3-month history of infantile spasms is described. EEG showed epileptic encephalopathy. The infantile spasms were resistant to treatment with clobazam...
  43. Espinosa Zacarías J, Gutierrez Moctezuma J, Villegas Peña H, Olmos G De Alba G. [Intravenous treatment with immunoglobulins in epileptic syndromes which are difficult to control]. Rev Neurol. 2002;34:816-9 pubmed
    ..It is a coadjuvant treatment for cases which are difficult to control and may also be useful in cases of symptomatic epilepsy where goods results are also obtained. ..
  44. Buoni S, Zannolli R, Waterham H, Wanders R, Fois A. D-bifunctional protein deficiency associated with drug resistant infantile spasms. Brain Dev. 2007;29:51-4 pubmed
    ..To date, only a few patients with D-BP deficiency have been described in the literature. This case adds to our knowledge of the clinical presentation of bifunctional protein deficiency. ..
  45. Metsahonkala L, Gaily E, Rantala H, Salmi E, Valanne L, Aarimaa T, et al. Focal and global cortical hypometabolism in patients with newly diagnosed infantile spasms. Neurology. 2002;58:1646-51 pubmed
    ..defects in cerebral cortical glucose metabolism in infants with newly diagnosed symptomatic and cryptogenic infantile spasms. Ten children with symptomatic and seven with cryptogenic infantile spasms underwent MRI, video-EEG, and PET ..
  46. Marshall C, Young E, Pani A, Freckmann M, Lacassie Y, Howald C, et al. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet. 2008;83:106-11 pubmed publisher
    b>Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation...
  47. Mikati M, Zalloua P, Karam P, Habbal M, Rahi A. Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. J Child Neurol. 2006;21:978-81 pubmed
    ..who presented with evidence of perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without alopecia or dermatitis...
  48. Nasrallah I, Minarcik J, Golden J. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J Cell Biol. 2004;167:411-6 pubmed
    ..expansions in the Aristaless-related homeobox (ARX) protein have been identified in a subset of patients with infantile spasms and mental retardation...
  49. Peltzer B, Alonso W, Porter B. Topiramate and adrenocorticotropic hormone (ACTH) as initial treatment for infantile spasms. J Child Neurol. 2009;24:400-5 pubmed publisher
    Historically, adrenocorticotropic hormone was used as a first-line treatment for infantile spasms; however, there has been increasing use of topiramate as initial therapy...
  50. Desguerre I, Pinton F, Nabbout R, Moutard M, N guyen S, Marsac C, et al. Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation. Neuropediatrics. 2003;34:265-9 pubmed
    To report three cases of infantile spasms (IS) with an abnormal magnetic resonance imaging signal in the basal ganglia (Leigh-like syndrome), due to T8993G mt DNA mutation...
  51. Chandra P, Salamon N, Nguyen S, Chang J, Huynh M, Cepeda C, et al. Infantile spasm-associated microencephaly in tuberous sclerosis complex and cortical dysplasia. Neurology. 2007;68:438-45 pubmed
    In children with and without infantile spasms, this study determined brain volumes and cell densities in epilepsy surgery patients with tuberous sclerosis complex (TSC) and cortical dysplasia with balloon cells (CD)...
  52. Hattori A, Ando N, Hamaguchi K, Hussein M, Fujimoto S, Ishikawa T, et al. Short-duration ACTH therapy for cryptogenic West syndrome with better outcome. Pediatr Neurol. 2006;35:415-8 pubmed
    ..This new short-duration ACTH therapy could yield better cognitive outcomes for cryptogenic West syndrome. ..
  53. Mikati M, Fayad M, Koleilat M, Mounla N, Hussein R, Kazma A, et al. Efficacy, tolerability, and kinetics of lamotrigine in infants. J Pediatr. 2002;141:31-5 pubmed
    ..We studied 13 infants with intractable seizures; 7 had partial seizures and 7 had infantile spasms (1 had both). Patients received open-label lamotrigine as add-on therapy for 3 months...