Last reviewed: November 2017
Last updated: October  2017

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • spasms
  • head nodding
  • neurodevelopmental delay or regression
  • ash leaf macules

Other diagnostic factors

  • onset age 3 months to 18 months
  • perinatal complication
  • abnormal eye movements
  • microcephaly
  • motor system abnormalities

Risk factors

  • brain malformation
  • neurocutaneous syndrome
  • antenatal or perinatal vascular event
  • intrauterine or perinatal infections
  • inherited metabolic disorder
  • genetic disorders
  • family history
  • neonatal sinovenous thrombosis
  • postnatal brain injury
  • brain tumours

Diagnostic investigations

1st investigations to order

  • EEG
  • plasma glucose
  • serum calcium
  • serum magnesium
  • LFTs
  • renal function tests
  • blood and urine cultures
  • FBC
  • microarray comparative genome hybridisation (CGH)
Full details

Investigations to consider

  • brain MRI
  • brain CT
  • serum lactate/pyruvate
  • serum ammonia
  • serum amino acids
  • urine amino acids and organic acids
  • CMV culture, PCR, or serology
  • toxoplasmosis serology
  • echocardiogram
  • renal ultrasound
  • ophthalmology examination
  • biotinidase
  • urine alpha-amino adipic semialdehyde dehydrogenase
  • cerebrospinal fluid (CSF) examination
  • gene mutation analysis
  • chromosomal analysis
Full details

Treatment algorithm

ONGOING

Contributors

Authors VIEW ALL

Consultant Paediatric Neurologist

Great Ormond Street Hospital

London

UK

Disclosures

RR declares that he has no competing interests.

Clinical Fellow in Epilepsy

Great Ormond Street Hospital

London

UK

Disclosures

KV declares that she has no competing interests.

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 VIEW ALL

Section Chief of Neurology

Dartmouth-Hitchcock Medical Center

Lebanon

NH

Disclosures

GLH declares that he has no competing interests.

Attending Pediatric Neurologist

Division of Neurology

Bambino Gesu Children's Hospital

Rome

Italy

Disclosures

MRC declares that she has no competing interests.

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.

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