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OXFORD MEDICAL PUBLICATIONS

Paediatric
Neurology
Oxford Specialist Handbooks
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Oxford Specialist
Handbooks in
Paediatrics
Paediatric
Neurology
Second edition

Edited by
Rob Forsyth
Consultant and Senior Lecturer in Child Neurology
Great North Children’s Hospital, Newcastle, UK

Richard Newton
Consultant Paediatric Neurologist
Royal Manchester Children’s Hospital, UK

1
1
Great Clarendon Street, Oxford, OX2 6DP,
United Kingdom
Oxford University Press is a department of the University of Oxford.
It furthers the University’s objective of excellence in research, scholarship,
and education by publishing worldwide. Oxford is a registered trade mark of
Oxford University Press in the UK and in certain other countries
© Oxford University Press 2012
The moral rights of the authors have been asserted
First Edition published 2007
Second Edition published 2012
Impression: 1
All rights reserved. No part of this publication may be reproduced, stored in
a retrieval system, or transmitted, in any form or by any means, without the
prior permission in writing of Oxford University Press, or as expressly permitted
by law, by licence or under terms agreed with the appropriate reprographics
rights organization. Enquiries concerning reproduction outside the scope of the
above should be sent to the Rights Department, Oxford University Press, at the
address above
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and you must impose this same condition on any acquirer
British Library Cataloguing in Publication Data
Data available
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ISBN 978–0–19–960363–3
Printed in Great Britain
on acid-free paper by
Ashford Colour Press Ltd, Gosport, Hampshire
Oxford University Press makes no representation, express or implied, that the
drug dosages in this book are correct. Readers must therefore always check
the product information and clinical procedures with the most up-to-date
published product information and data sheets provided by the manufacturers
and the most recent codes of conduct and safety regulations. The authors and
the publishers do not accept responsibility or legal liability for any errors in the
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otherwise stated, drug dosages and recommendations are for the non-pregnant
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 Dedication
For our families:
Pip, Beth, and Ellen; Judith, Sarah, Michael, and Jennifer

And from all the contributors:

Thanks to our own families, and those we meet through our work,
who support us and teach us so much.
vi

Preface to the
second edition

The very gratifying response to the first edition of this book has justified
our belief in the value of a team approach: contributors with their fingers
on the pulse of advances in our field, steadied at the helm by two editors
with experience and perspective. It has, again, been a great privilege: never
has Lord Acton’s advice to ‘learn as much from writing books as from
reading them’ been better heeded!
We have appreciated the very constructive suggestions for improvement
of the first edition and followed them where we can. We have added
respiratory consults to Chapter 5, and included more neuroradiology,
diagrams, and images in situations where they offer clarity. A section on
late-onset metabolic disease is added with an emphasis on how this group
of disorders might catch us out.
With an ever-increasing list of genes and autoantibodies to think about
it is important to remember those everyday skills we carry, honed as
juniors in our specialty: listening to what is truly being said, careful clinical
examination, focused investigation, and above all the communication of
understanding, reassurance, and hope to families and young people facing
challenges they never dreamed existed. You will find due emphasis on this
in the text.
We trust this book will become a trusted companion. Please continue
to tell us how it can be improved!
RF
RN
2012
 vii

Preface to the
first edition

Medicine is a communal discipline, and this book has benefited greatly

from being written in community by trainees (who remember the recent
struggle to grasp a complex area) and older colleagues who can add par-
ticular emphases and perspective. We have striven to provide a combina-
tion of practical advice on clinical approach, and ‘at a glance’ oversights
and aides-memoire to topic areas. We also wanted to address a number
of practical issues that occupy a lot of time in practice, but that are rarely
addressed in more conventional textbooks.
RF
RN
2007
viii

Acknowledgements

We are grateful to colleagues Hilary Cass and Chris O’Brien for their con-
tributions to the sections on b p. 114 and b p. 254, respectively. Robert
MacFarland reviewed the section on mitochondrial disease and Simon
Bailey commented on the CNS tumour section. We thank Susan Kafka,
Clinical Pharmacist at Royal Manchester Children’s Hospital for her expert
review of the pharmacopoeia. Stavros Stivaros, also of Royal Manchester
Children’s Hospital provided some MR images. Hilary Reidpath, Senior
Technician in the Neurophysiology Department at the Royal Hospital for
Sick Children Glasgow and Dr Ming Lai, Consultant Neurophysiologist at
the Royal Victoria Infirmary, Newcastle kindly supplied EEG illustrations.
We are very grateful to Nuno Cordeiro, Christian de Goede, and
Omar Kwaja who contributed so generously to the first edition. We are
particularly grateful to Anna Basu, Ram Kumar, and Kate Riney for detailed
proof-reading but any remaining errors are of course our responsibility.
RF
RN
2012
 ix

Contents

Detailed contents xi
Contributors xv
Symbols and abbreviations xvi

1 Clinical approach 1
2 Neurodiagnostic tools 51
3 Signs and symptoms 103
4 Specific conditions 209
5 Consultation with other services 469
6 Emergencies 533
7 Pharmacopoeia 573

Index 621
This page intentionally left blank
 xi

Detailed contents

Contributors xv
Symbols and abbreviations xvi

1 Clinical approach 1
The consultation 2
What, where, and when 4
History taking 6
Examination 8
Higher cognitive function 13
Cranial nerves 16
Peripheral nervous system 25
Neonatal neurological examination 41
Real world examination sequences 45
Synthesis 49

2 Neurodiagnostic tools 51
Principles of investigation 52
Principles of neuroradiology 54
Neuroradiological anatomy 64
Brainstem anatomy 69
Principles of neurophysiology 70
Peripheral neurophysiological tests 76
Neurophysiological testing of central sensory pathways 82
Specialist investigations 85
Practical procedures 94
Neuropsychological testing 99

3 Signs and symptoms 103

Agitation and confusion 104
Back pain 106
Behaviour disorders 107
Developmental impairment 109
Exercise limitation and muscle pain 117
Eye movement abnormalities 119
xii DETAILED CONTENTS

Facial movement abnormalities 126

Facial sensation abnormalities 130
The floppy infant 132
Foot deformities 135
Funny turns: episodic events 136
Funny turns: likely epilepsy? 141
Gait abnormalities 144
Head shape abnormalities 146
Head size abnormalities 148
Headache 151
Hearing loss 155
Incontinence 157
Movement abnormalities 159
Magnetic resonance imaging and brain development 163
Unexpected findings on magnetic resonance imaging 167
White matter abnormalities on magnetic resonance imaging 170
Numbness, pain, tingling, and sensory disturbance 174
Peripheral weakness 176
Psychomotor regression 179
School failure 186
Sleep disturbance 188
Speech difficulties 192
Swallowing and feeding problems 194
Toe walking 196
Unsteadiness and falls 197
Visual disturbances 200

4 Specific conditions 209

Acquired brain injury 210
Acquired spinal cord injury 215
Autoimmune disease of the central nervous system 218
‘Autoinflammatory’ conditions 223
Autoimmune encephalitides 224
Cerebral palsies 227
Care of the disabled child 240
Feeding 248
Communication 251
 DETAILED CONTENTS xiii
Special senses 252
Respiratory disease in neurodisability 254
Demyelinating disease 257
Epilepsy 262
Investigating epilepsy 275
Am I missing an underlying cause? 280
Treatment of epilepsy 286
Epilepsy and daily life 298
Non-epileptic paroxysmal phenomena 304
Functional illness 311
Headache 317
Hydrocephalus 324
Spina bifida and related disorders 329
Idiopathic (‘benign’) intracranial hypertension 334
Infection of the central nervous system 336
Congenital infection 355
Late-onset metabolic disease 365
Mitochondrial disease 369
Movement disorders 375
Neuromuscular conditions: introduction 390
Neuropathies 392
Disorders of muscle 399
Anterior horn cell disease 410
Myasthenic syndromes 411
Management of neuromuscular disease 416
Neurocutaneous syndromes 418
Neurodegenerative conditions 425
Neurotransmitter disorders 435
Sleep disorders 439
Stroke 446
Cerebral haemorrhage 452
Tumours of the central venous system 454
Vitamin-responsive conditions 462

5 Consultation with other services 469

General principles 470
Cardiology consultations 471
xiv DETAILED CONTENTS

Endocrinology consultations 474

Gastroenterology consultations 476
Neonatal neurology 480
Neonatal encephalopathy 487
Neurosurgical consultations 500
Oncology consultations 502
PICU consultations 507
Psychiatry consultations 517
Neuropsychiatric liaison work 520
Renal consultations 523
Respiratory consultations 526
Rheumatology consultations 531

6 Emergencies 533
Acute agitation 534
Emergency management of coma 536
Traumatic coma 541
Status epilepticus 544
Status dystonicus 551
Sudden onset visual loss 558
The child who suddenly stops walking 559
Acute ataxia 572

7 Pharmacopoeia 573
Pharmacopoeia: A–Z 574
Acute sedation protocols 619
Interactions of anti-epileptic drugs 619

Index 621
 xv

Contributors

Anna Basu Andrew Lux

Clinical Lecturer, Newcastle Consultant Paediatric Neurologist,
University and Specialist Registrar, Bristol Royal Hospital for
Great North Children’s Hospital, Children, UK
Newcastle upon Tyne, UK
Richard Newton
Rob Forsyth Consultant Paediatric
Senior Lecturer, Newcastle Neurologist, Royal Manchester
University and Consultant Children’s Hospital, UK
Paediatric Neurologist, Great
North Children’s Hospital, Ki Pang
Newcastle upon Tyne, UK Consultant Paediatric Neurologist,
Great North Children’s Hospital,
Cheryl Hemingway Newcastle upon Tyne, UK
Consultant Paediatric Neurologist,
Great Ormond Street Hospital, Kate Riney
London, UK Consultant Paediatric
Neurologist, Mater Children’s
Imelda Hughes Hospital, Brisbane, Australia
Consultant Paediatric
Neurologist, Royal Manchester Sophia Varadkar
Children’s Hospital, UK Consultant Paediatric Neurologist,
Great Ormond Street Hospital,
Rachel Kneen London, UK
Consultant Paediatric Neurologist,
Alder Hey Children’s Hospital, Grace Vassallo
Liverpool, UK Consultant Paediatric
Neurologist, Royal Manchester
Ram Kumar Children’s Hospital, UK
Consultant Paediatric Neurologist,
Alder Hey Children’s Hospital,
Liverpool, UK
xvi

Symbols and abbreviations

5FU 5-fluorouracil
5HIAA 5-hydroxyindoleacetic acid
5MTHF 5-methyl terahydrofolate
AAC assistive/augmentative communication
AASA L-alpha-aminoadipic semialdehyde
ABC airway, breathing, circulation
ABG arterial blood gases
ABI acquired brain injury
ACE angiotensin converting enzyme
AChE anticholinesterase
AChR acetylcholine receptor
ACTH adrenocorticotrophic hormone
AD autosomal dominant
ADANE autosomal dominant acute necrotising encephalopathy
ADC apparent diffusion coefficient (in MRI)
ADEM acute disseminated encephalomyelopathy
ADHD attention deficit hyperactivity disorder
ADP adenosine diphosphate
ADI/ADOS Autism Diagnostic Inventory/Observation Schedule
A&E Accident and Emergency
AED anti-epileptic drug
AFB acid-fast bacilli
AFP alpha-foeto protein
AGS Aicardi–Goutièrres syndrome
AIDP acute inflammatory demyelinating neuropathy
AIDS acquired immunodeficiency syndrome
ALL acute lymphoblastic leukaemia
ALT alanine amino-transaminase
ALTE acute life-threatening events
AMAN acute motor axonal neuropathy
AMC arthrogryposis multiplex congenital
AMP adenosine monophosphate
AMPA(-R) A-amino-3-hydroxy-5-methyl-4-isoxazole proprionic
acid (receptor)
AMSAN acute motor and sensory axonal neuropathy
ANA antinuclear antibody
 SYMBOLS AND ABBREVIATIONS xvii
ANCA antineutrophil cytoplasmic antibodies
AOA ataxia oculomotor ataxia
AP anteroposterior
APD afferent pupillary defect
AR autosomal recessive
ART anti-retroviral treatment
ASOT anti-streptolysin O titre
AST aspartate aminotransferase
AT ataxia telangiectasia
ATM ataxia telangiectasia mutated protein
ATP adenosine tri-phosphate
AV arterioventicular
AVED ataxia with vitamin E deficiency
AVM arteriovenous malformation
BAER/P brainstem auditory evoked response/potential
BAS British Ability Scales
BBB blood–brain barrier
BCNU bis-chloroethylnitrosourea or carmustine
BCG Bacillus Calmette–Guérin
bd twice daily
BECTS benign epilepsy with centrotemporal spikes
BFNS benign familail neonatal seziures
BIND bilirubin-induced neurological dysfunction
BIPAP bilevel positive airway pressure
BM (inf.) glucose monitoring strip
BMEI benign myoclonic epilepsy of infancy
BMD Becker muscular dystrophy
BMT bone marrow transplant
BNF-C British National Formulary for Children
BNS benign neonatal syndrome
BP blood pressure
BSD brainstem death
CACH childhood ataxia with CNS hypomyelination
(Vanishing White Matter disease)
CADASIL cerebral autosomal dominant arteriopathy with
subcortical infarcts and leukoencephalopathy
CAE childhood absence epilepsy
CAMHS child and adolescent mental health services
CBF cerebral blood flow
CBT cognitive-behavioural therapy
CBZ carbamazepine
xviii SYMBOLS AND ABBREVIATIONS

CD controlled drug
CDG congenital disorder of glycosylation (also known as
carbohydrate deficient glycoprotein syndrome)
CEOP childhood epilepsy with occipital paroxysms
CFAM cerebral function analysing monitor
CFEOM congenital fibrosis of extraocular muscles
CFS/ME chronic fatigue syndrome/myalgic encephalomyelopathy
CGD chronic granulomatous disease
CGH comparative genome hybridisation
CHARGE coloboma, heart defects, (choanal) atresia,(growth)
retardation, genital/urinary and ear abnormalities
(syndrome)
CHAT checklist for Autism in Toddlers
CIDP chronic inflammatory demyelinating neuropathy
CINCA chronic infantile neurological cutaneous and articular
(syndrome)
CIS clinically isolatated syndrome
CJD Creutzfeld-Jakob disease
CK creatinine (phospho)kinase
CKMB muscle–brain isoenzyme of CK
CMAP compound muscle action potential
CMD congenital muscular dystrophy
CMS congenital myaesthenic syndrome
CRMCC cerebro-retinal microangiopathy with calcification and
cysts
CMT Charcot-Marie tooth Disease
CMV cytomegalovirus
CNS central nervous system
CNV copy number variant
COACH cerebellar vermis hypo- or aplasia, oligophrenia,
congenital ataxia, ocular coloboma and hepatic fibrosis
COX cytochrome oxidase
CPEO chronic progressive external ophthalmoplegia
CP cerebral palsy
CPP cerebral perfusion pressure
C/R controlled-release
CRMCC cerebroretinal microangiopathy with calcification and
cysts
CRP C-reactive protein
CRPS complex regional pain syndrome
CSE convulsive status epilepticus
CSF cerebrospinal fluid
 SYMBOLS AND ABBREVIATIONS xix
CSI craniospinal irradiation
CSW cerebral salt wasting
CSWS continuous spike-wave discharges during slow wave sleep
CT computed tomography
CTA computed tomographic angiography
CTG cardiotocograph
CVA cerebrovascular accident
CVI cerebral (or cortical) visual impairment
CVID common variable immunodeficiency
CVP central venous pressure
CVVH continuous veno-venous haemofiltration
CXR chest X-ray
DA dopamine
DAMP disorders of attention, motor processing, and perception
DCD developmental co-ordination disorder
DDAVP desmopressin
DEXA dual-energy X-ray absorptiometry
DI diabetes insipidus
DIDMOAD diabetes insipidus, diabetes mellitus, optic atrophy
and deafness.
DIPG diffuse intrinsic brainstem gliomas
DKA diabetes ketoacidosis
DM myotonic dystrophy
DMD Duchenne muscular dystrophy
DML distal motor latency
DNET dysembryoplastic neuroepithelial tumour
DRD L-DOPA responsive dystonia
DRPLA dentato-rubral-pallido-luysian atrophy
DSA digital subtraction angiography
DSM-IV diagnostic and statistical manual of mental
disorders–Fourth edition
DTI diffusion tensor imaging (MRI)
DTR deep tendon reflex
DWI diffusion-weighted image (MRI)
EBV Epstein–Barr virus
ECG electrocardiogram
ECMO extra-corporeal membrane oxygenation
EDH extra-dural haemorrhage
EEG electroencephalography
EIEE early infantile epileptic encephalopahty
(Ohtahara syndrome)
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