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Infantile spasms syndrome

Last reviewed: 9 Apr 2025
Last updated: 13 Dec 2024

Summary

Definition

History and exam

Key diagnostic factors

  • spasms
  • head nodding
  • neurodevelopmental delay or regression
Full details

Other diagnostic factors

  • onset age 3-12 months
  • perinatal complication
  • abnormal eye movements
  • microcephaly
  • ash-leaf macules
  • motor system abnormalities
Full details

Risk factors

  • brain malformation
  • neurocutaneous abnormalities
  • prenatal or perinatal vascular event
  • intrauterine or perinatal infections
  • inherited metabolic disorder
  • genetic disorders
  • family history
  • neonatal sinovenous thrombosis
  • postnatal brain injury
  • brain tumors
Full details

Diagnostic tests

1st tests to order

  • sleep electroencephalogram (EEG)
  • complete blood count
  • blood chemistries
  • plasma glucose
  • serum calcium
  • serum magnesium
  • liver function tests
  • ammonia
  • blood gas
  • plasma lactate/pyruvate
  • plasma amino acids
  • urine organic acids
  • acylcarnitines (blood spot)
  • biotinidase
  • urine alpha-amino adipic semialdehyde dehydrogenase (AASA)
  • urine and plasma creatine and guanidinoacetate
  • next-generation sequencing: gene panel/whole-exome sequencing/whole-genome sequencing
  • microarray comparative genome hybridization (CGH)
  • brain MRI
Full details

Tests to consider

  • cerebrospinal fluid (CSF) exam
  • thyroid function tests (free thyroxine [FT4], thyroid-stimulating hormone [TSH])
  • plasma transferrin glycoforms
  • very long-chain fatty acids
  • serum copper, ceruloplasmin
  • urine sulfocysteine
  • CT brain
  • cytomegalovirus (CMV) culture, polymerase chain reaction (PCR), or serology
  • toxoplasmosis serology
  • echocardiogram
  • renal ultrasound
  • ophthalmology exam
Full details

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Robert Robinson, MA, MBBS, FRCP, PhD

Consultant Paediatric Neurologist

Great Ormond Street Hospital

London

UK

Disclosures

RR declares that he has no competing interests.

Sarah Buts, MD

Clinical Fellow in Paediatric Neurology

Great Ormond Street Hospital

London

UK

Disclosures

SB declares that she has no competing interests.

Acknowledgements

Dr Robert Robinson and Dr Sarah Buts would like to gratefully acknowledge Dr Katharina Vezyroglou, Dr Marjorie Illingworth, Dr Pradnya Gadgil, Dr Teesta Soman, and Dr Shelly Weiss, previous contributors to this topic.

Disclosures

KV, MI, PG, TS, and SW declare that they have no competing interests.

Peer reviewers

Gregory L. Holmes, MD

Section Chief of Neurology

Dartmouth-Hitchcock Medical Center

Lebanon

NH

Disclosures

GLH declares that he has no competing interests.

Maria Roberta Cilio, MD, PhD

Attending Pediatric Neurologist

Division of Neurology

Bambino Gesu Children's Hospital

Rome

Italy

Disclosures

MRC declares that she has no competing interests.

Lionel Carmant, MD

Professor of Neurology

Department of Pediatrics

University of Montreal

Director of Epilepsy Clinic and Research Group

Saint Justine Hospital

Montreal

QC

Canada

Disclosures

LC declares that he has no competing interests.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Hancock EC, Osborne JP, Edwards SW. Treatment of infantile spasms. Cochrane Database Syst Rev. 2013 Jun 5;(6):CD001770.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

Willmore LJ, Abelson MB, Ben-Menachem E, et al. Vigabatrin: 2008 update. Epilepsia. 2009 Feb;50(2):163-73. Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • Infantile spasms syndrome images
  • Differentials

    • Dravet syndrome
    • Benign familial infantile seizures
    • Benign sleep myoclonus
    More Differentials
  • Guidelines

    • Evidence-based guideline update: medical treatment of infantile spasms
    • Infantile spasms: a US consensus report
    More Guidelines
  • Patient information

    Epilepsy: questions to ask your doctor

    More Patient information
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