II. Epidemiology

  1. Responsible for 2-3% of childhood Epilepsy
  2. Onset before age 12 months in 90% of patients
  3. Peak onset at age 4-8 months

III. Causes

  1. Tuberous sclerosis
  2. Phenylketonuria (PKU)
  3. Maple syrup urine disease
  4. Aicardi's Syndrome
  5. Agenesis of the Corpus Callosum
  6. Nonketotic Hyperglycemia

IV. Signs

  1. Flexor, extensor, or mixed Posture
  2. Brief head bobs to massive jerks of the body
  3. May occur in clusters
  4. Child drowsy on awakening (postictal)

V. Diagnostics: Electroencephalogram (EEG)

  1. Hypsarrhythmia
    1. Multiple high amplitude multi- focal spikes
    2. Disorganized wave discharges

VI. Differential Diagnosis

  1. Benign infantile Myoclonus
  2. Severe Myoclonus

VII. Management

  1. Difficult to control
  2. Adrenocorticotropic Hormone (ACTH)
  3. Valproate

VIII. Prognosis

  1. Herald ominous neurodevelopmental prognosis
  2. Outcome depends on cause

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Ontology: Infantile spasms (C0037769)

Definition (NCI) A rare autosomal recessive inherited neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spheroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.
Definition (MSH) 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)
Concepts Disease or Syndrome (T047)
MSH D013036
ICD9 345.6
ICD10 G40.82
SnomedCT 193014002, 193015001, 288197007, 193016000, 155042008, 28055006
English Infantile spasms, Spasms, Infantile, Syndrome, West, West Syndrome, Infantile Spasms, Infantile spasms NOS, Infantile spasm, Infant spasms - hypsarrythmia, infantile spasms (diagnosis), infantile spasms, Attack, Lightning, Attacks, Lightning, Lightning Attack, Lightning Attacks, Infantile Spasm, Spasms, Infantile [Disease/Finding], west's syndrome, Seizure;infant spasms, hypsarrhythmia, salaam attacks, salaam seizures, spasm infantile, west syndrome, syndrome west, West syndrome (finding), Infantile spasms NOS (disorder), West's syndrome, Lightning spasms, West syndrome, Infantile spasms - hypsarrythmia, West syndrome (disorder), West, infantile; spasm, lightning; spasm, spasm; infantile, spasm; lightning, infantile spasm
Swedish Kramp hos spädbarn
Japanese テントウテンカン, ウエストショウコウグン, 乳児けいれん, ヒプサルスミア, 点頭痙攣, 乳児痙攣, ジャックナイフ痙攣, 点頭けいれん, 点頭発作, ひきつけ-幼児, ヒプスアリスミア, 乳幼児痙攣, 汎性ミオクロニー性れん縮, けいれん-乳幼児, ジャックナイフけいれん, 点頭癲癇, 痙攣-点頭, 癲癇-点頭, 痙攣-乳幼児, ウェスト症候群, てんかん-点頭, 点頭てんかん, ウエスト症候群, ミオクロニー性れん縮-汎性, 幼児ひきつけ, West症候群, けいれん-乳児
Czech křeče u dětí, Westův syndrom, Spasmy infantilní
Finnish Infantiili spasmi
Russian KIVATEL'NAIA SUDOROGA, EPILEPSIIA DETSKAIA, SUDOROGI U DETEI, GIPSARITMIIA, SALAAMOVY PRIPADKI, SUDOROGI U DETEI EPILEPTICHESKIE, ГИПСАРИТМИЯ, КИВАТЕЛЬНАЯ СУДОРОГА, САЛААМОВЫ ПРИПАДКИ, СУДОРОГИ У ДЕТЕЙ, СУДОРОГИ У ДЕТЕЙ ЭПИЛЕПТИЧЕСКИЕ, ЭПИЛЕПСИЯ ДЕТСКАЯ
Italian Sindrome di West, Spasmi infantili
Polish Napady skłonów, Napady zgięciowe, Zespół skurczów zgięciowych, Mioklonie dziecięce masywne, Hipsarytmia, Zespół Westa
Hungarian Csecsemőkori spasmus, West-syndroma
Norwegian Wests syndrom, West-syndrom, Infantile spasmer
Spanish espasmos infantiles, SAI (trastorno), espasmos infantiles, SAI, Crisis Salutatoria, Ataques de Salaam, ataques de cabeceo, ataques salutatorios, espasmos de relampagueo, espasmos infantiles, hipsarritmia, síndrome de West (trastorno), síndrome de West, Espasmos infantiles, Espasmos Infantiles, Síndrome de West
Portuguese Crises de Salamaleque, Espasmos de Aquiescência, Espasmos Infantis Sintomáticos, Espasmos em Salame, Espasmos infantis, Espasmos Infantis, Síndrome de West
Dutch bliksem; spasme, infantiel; spasme, spasme; bliksem, spasme; infantiel, infantiele spasmen, Infantiel spasme, Infantiele spasmen, Spasme, infantiel, Spasmen, infantiele, West-syndroom
German infantile Spasmen, West-Syndrom, Frühkindliche Krampfanfälle, Krampfanfälle, frühkindliche
French Spasmes infantiles, Spasmes en flexion, Syndrome de West