Infantile spasms - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Infantile spasms syndrome is an epilepsy syndrome typically presenting in infancy, with a varying etiology.
Spasms may be flexor, extensor, mixed flexor-extensor, symmetric, or asymmetric, and typically occur in clusters.
A hypsarrhythmic electroencephalogram is characteristic but not universally present at all times.
A mortality rate of 5% to 30% is reported by 3 years. Among survivors, developmental delay ensues in 80% to 90%, and 50% to 70% later develop other seizure types.
First-line treatment options include hormonal therapy (adrenocorticotropic hormone or corticosteroids) and vigabatrin.

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Definition

Epidemiology

Etiology

Pathophysiology

Images

Ash-leaf macules in a child with tuberous sclerosis
EEG demonstrating hypsarrhythmia
Cortical tubers on MRI in tuberous sclerosis

Citations

Key Articles

Hancock EC, Osborne JP, Edwards SW. Treatment of infantile spasms. Cochrane Database Syst Rev. 2013 Jun 5;(6):CD001770.[Abstract][Full Text]
Go CY, Mackay MT, Weiss SK, et al; Child Neurology Society; American Academy of Neurology. Evidence-based guideline update: medical treatment of infantile spasms. Neurology. 2012 Jun 12;78(24):1974-80.[Abstract][Full Text]
Lux AL, Edwards SW, Hancock E, 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 Nov;4(11):712-7.[Abstract]
National Institute for Health and Care Excellence. Epilepsies in children, young people and adults. Apr 2022 [internet publication].[Full Text]
O'Callaghan FJ, Edwards SW, Alber FD, et al. Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. Lancet Neurol. 2017 Jan;16(1):33-42.[Abstract][Full Text]
Willmore LJ, Abelson MB, Ben-Menachem E, et al. Vigabatrin: 2008 update. Epilepsia. 2009 Feb;50(2):163-73.[Abstract]

Referenced Articles

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51. 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.[Abstract]
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59. Schwarz MD, Li M, Tsao J, et al. A lack of clinically apparent vision loss among patients treated with vigabatrin with infantile spasms: the UCLA experience. Epilepsy Behav. 2016 Apr;57(Pt A):29-33.[Abstract]
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