Infantile spasms

Last reviewed: 17 Apr 2022
Last updated: 21 Nov 2018

Summary

Definition

History and exam

Key diagnostic factors

  • spasms
  • head nodding
  • neurodevelopmental delay or regression
  • ash leaf macules
More key diagnostic factors

Other diagnostic factors

  • onset age 3-12 months
  • perinatal complication
  • abnormal eye movements
  • microcephaly
  • motor system abnormalities
Other diagnostic factors

Risk factors

  • brain malformation
  • neurocutaneous syndrome
  • prenatal or perinatal vascular event
  • intrauterine or perinatal infections
  • inherited metabolic disorder
  • genetic disorders
  • family history
  • neonatal sinovenous thrombosis
  • postnatal brain injury
  • brain tumors
More risk factors

Diagnostic investigations

1st investigations to order

  • EEG
  • plasma glucose
  • serum calcium
  • serum magnesium
  • LFTs
  • renal function tests
  • blood and urine cultures
  • CBC
  • microarray comparative genome hybridization (CGH)
More 1st investigations to order

Investigations to consider

  • brain MRI
  • brain CT
  • serum lactate/pyruvate
  • serum ammonia
  • serum amino acids
  • urine amino acids and organic acids
  • cytomegalovirus (CMV) culture, polymerase chain reaction (PCR), or serology
  • toxoplasmosis serology
  • echocardiogram
  • renal ultrasound
  • ophthalmology exam
  • biotinidase
  • urine alpha-amino adipic semialdehyde dehydrogenase
  • cerebrospinal fluid (CSF) exam
  • gene mutation analysis
  • chromosomal analysis
More investigations to consider

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Robert Robinson, MA, MBBS, MRCP, PhD

Consultant Paediatric Neurologist

Great Ormond Street Hospital

London

UK

Disclosures

RR declares that he has no competing interests.

Katharina Vezyroglou, MD

Clinical Fellow in Epilepsy

Great Ormond Street Hospital

London

UK

Disclosures

KV declares that she has no competing interests.

Acknowledgements

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

  • Infantile spasms images
  • Differentials

    • Severe myoclonic epilepsy of infancy (Dravet syndrome)
    • Benign familial infantile seizures
    • Benign neonatal sleep myoclonus
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  • Guidelines

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

    Epilepsy: questions to ask your doctor

    More Patient leaflets
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