Infantile epileptic spasms syndrome

Infantile epileptic spasms syndrome
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Infantile epileptic spasms syndrome (IESS) previously known as West syndrome needs the inclusion of epileptic spasms for diagnosis.[1] Epileptic spasms (also known as infantile spasms) may also occur outside of a syndrome (that is, in the absence of hypsarrhythmia and cognitive regression) - notably in association with severe brain disorders (e.g. lissencephaly).[2]

IESS is an epileptic encephalopathy, a childhood epilepsy syndrome arising during infancy.[3] It can often arise as a complication of various other medical conditions.[2][4] It is clinically defined by the occurrence of the characteristic epileptic spasms, episodes of clusters of tonic spasms of the axial and limb musculature.[5] Such spasms are found in association with characteristic abnormal EEG pattern findings (hypsarrhythmia), and cognitive delay or deterioration.[2][4] The peak age of onset is 4-6 months of age, with 90% of cases presenting during the first year of life. The spasms are usually resistant to conventional antiepileptics. They may persist beyond infancy, or, rarely, commence only later in childhood. Many individuals with the syndrome go on to develop other forms of epilepsy later in life (notably Lennox–Gastaut syndrome), and persisting neurodevelopmental deficits are common;[2] notably, up to about a third of children are subsequently diagnosed with autism.[6] Pharmacotherapy consists of either adrenocorticotropic hormone (ACTH) or glucocorticoids (prednisone), or vigabatrin. Ketogenic diet may be effective as second-line therapy for treatment-resistant cases. Neurosurgery may be indicated in certain cases.[2][7]

Epileptic spasms are commonly classified as symptomatic when a potential cause can be identified, or as cryptogenic if not (though these designations are used inconsistently).[2] A specific cause can be identified in ~70-75%. Any condition that may cause cerebral insult may give rise to IESS. Causes range from genetic disorders, infections, congenital malformations, malnutrition, to brain trauma. The most commonly identified common cause is tuberous sclerosis complex. Cryptogenic cases entail a more favourable prognosis overall.[4]

West syndrome is named for the English physician William James West who was first to describe the condition in an article in The Lancet in 1841 based on observations of the condition in his son.[1]

  1. ^ a b "Infantile epileptic spasms syndrome". Epilepsy Action.
  2. ^ a b c d e f Shorvon, S. D.; Guerrini, Renzo; Cook, Mark; Lhatoo, Samden D., eds. (2013). Oxford Textbook of Epilepsy and Epileptic Seizures. Oxford Textbooks in Clinical Neurology. Oxford, United Kingdom: Oxford University Press. pp. 63, 140, 177–179. ISBN 978-0-19-965904-3. OCLC 806014746.
  3. ^ "Infantile Epileptic Spasms Syndrome (IESS)". www.epilepsydiagnosis.org.
  4. ^ a b c "West Syndrome - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2024-09-28.
  5. ^ Panayiotopoulos, C. P. (2007). A Clinical Guide to Epileptic Syndromes and Their Treatment (2nd ed.). London: Springer. pp. 276–283. ISBN 978-1-84628-643-8. OCLC 173238208.
  6. ^ Cite error: The named reference Coleman-2012 was invoked but never defined (see the help page).
  7. ^ Treadwell, Jonathan R.; Wu, Mingche; Tsou, Amy Y. (2022-10-25). Management of Infantile Epilepsies (Report). Agency for Healthcare Research and Quality (AHRQ). doi:10.23970/ahrqepccer252.