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