Summary
Definition
History and exam
Key diagnostic factors
- spasms
- head nodding
- neurodevelopmental delay or regression
Other diagnostic factors
- onset age 3-12 months
- perinatal complication
- abnormal eye movements
- microcephaly
- ash-leaf macules
- motor system abnormalities
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
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
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
Treatment algorithm
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
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.
Differentials
- Dravet syndrome
- Benign familial infantile seizures
- Benign sleep myoclonus
More DifferentialsGuidelines
- Evidence-based guideline update: medical treatment of infantile spasms
- Infantile spasms: a US consensus report
More GuidelinesPatient information
Epilepsy: questions to ask your doctor
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