i

OXFORD MEDICAL PUBLICATIONS

Paediatric Neurology

1 ii

Published and forthcoming Oxford Specialist Handbooks Oxford Specialist Handbooks in Paediatrics Paediatric Nephrology (Rees, Webb and Brogan) Paediatric Neurology (Forsyth and Newton eds.) Paediatric Gastroenterology, Hepatology & Nutrition (Beattie, Dhawan and Puntis eds.) Oncology and Haematology (Bailey and Skinner eds.) Oxford Specialist Handbooks in Cardiology Echocardiology (Leeson, Mitchell and Becher eds.) Cardiac Catheterization and Coronary Angiography (Mitchell, Leeson, West and Banning) Heart Failure (Gardner, McDonagh and Walker) Pacing and Implantable ICDs (Timperley, Leeson, Mitchell and Betts eds.) Oxford Specialist Handbooks in Surgery Vascular Surgery (Hands, Murphy, Sharp and Ray Chaudry) Plastic Surgery (Giele and Cassell eds.) Urology (Reynard, Sullivan, Turner, Feneley, Armenakas and Mark eds.) Oxford Specialist Handbooks in Neurology Parkinson’s Disease & Movement Disorders (Edwards, Bhatia and Quinn and Swinn) Epilepsy (Alarcon, Nashaf, Cross and Nightingale)

1 iii

Paediatric Neurology Rob Forsyth Consultant and Senior Lecturer in Child Neurology, Newcastle University and Newcastle–upon–Tyne Hospital NHS Trust, Newcastle, UK

and

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

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Great Clarendon Street, Oxford OX2 6DP 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 in

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10 9 8 7 6 5 4 3 2 1 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 text or for the misuse or misapplication of material in this work. Except where otherwise stated, drug dosages and recommendations are for the non-pregnant adult who is not breast-feeding.

1 v

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.

1 vii

Acknowledgements

We are grateful to colleagues Hilary Cass and Chris O’Brien for their contributions to the sections on pages 93 and 304, respectively, and to Sophie Farooq, Clinical Pharmacist at Royal Manchester Children’s Hospital, for her expert review of the pharmacopoeia. We are also grateful to Bobby McFarland for comments on the mitochondrial disease section (page 364 and following). Any remaining errors are of course our responsibility.

1 ix

Foreword

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 particular emphases and perspective. We have striven to provide a com-bination of practical advice on clinical approach and ‘at a glance’ over-sights 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.

1

x

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 text or for the misuse or misapplica-tion of material in this work.

1 xi

Contents

Acknowledgements vii Foreword ix Contributors xiii Detailed contents xv Abbreviations xix

1 Clinical approach

2 Neurodiagnostic tools

3 Signs and symptoms

4 Specific conditions

5 Consults with other services

6 Emergencies

7 Pharmacopoeia

Index 547

41

1

87

177

405

463

509

1 xiii

Contributors

Nuno Cordeiro, Specialist Registrar in Paediatric Neurology, Royal Hospital for Sick Children, Glasgow, UK

Christian de Goede, Consultant Paediatric Neurologist, Royal Preston and Royal Manchester Children’s Hospital, UK

Rob Forsyth, Consultant and Senior Lecturer in Child Neurology, Newcastle University, and Newcastle–upon–Tyne Hospital NHS Trust, UK

Cheryl Hemingway, Consultant Paediatric Neurologist, Great Ormond Street Hospital, London, UK

Omar Khwaja, Instructor in Paediatric Neurology, Harvard Medical School, Boston MA, USA

Rachel Kneen, Consultant Paediatric Neurologist, Royal Liverpool Children’s NHS Trust, UK

Ram Kumar, Specialist Registrar in Neurology, Royal Manchester Children’s Hospital, UK

Andrew Lux, Consultant Paediatric Neurologist, Bristol Royal Hospital for Children, UK

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

Ki Pang, Consultant Paediatric Neurologist, Newcastle–upon–Tyne Hospital NHS Trust, UK

Kate Riney, Clinical Research Fellow in Paediatric Neurology, Neurosciences Unit, Institute of Child Health (UCL) and Great Ormond Street Hospital for Children NHS Trust, London, UK

Sophia Varadkar, Consultant Paediatric Neurologist, Great Ormond Street Hospital, London, UK

Grace Vassallo, Specialist Registrar in Paediatric Neurology, Royal Manchester Children’s Hospital, UK

1 xv

Detailed contents

Acknowledgements vii Foreword ix Contributors xiii Abbreviations xix

1 Clinical approach 1 The consultation 2

What, where, and when 4

History taking 6

Examination 8

Higher cognitive function 12

Cranial nerves 14

Peripheral nervous system 24

Neonatal neurological examination 32

Real world examination sequences 36

Synthesis 40

2 Neurodiagnostic tools 41 Principles of investigation 42

Principles of neuroradiology 44

Neuroradiological anatomy 50

Principles of neurophysiology 56

Peripheral neurophysiological tests 60

Neurophysiological testing of central sensory pathways 66

Specialist investigations 70

Practical procedures 78

Neuropsychological testing 84

1DETAILED CONTENTS xvi

3 Signs and symptoms 87 Developmental delay 88

Failing at school 96

Psychomotor regression 98

Paroxysmal events 104

Epilepsy 108

Headache 112

Acute confusional state 116

Disturbances of vision 118

Eye movement abnormalities 126

Abnormalities of facial movement 132

Abnormal facial sensation 136

Hearing loss 138

Poorly articulated speech 140

Difficulty swallowing 142

Numbness, tingling, and sensory disturbance 144

Back pain 146

Funny walks 148

Foot deformities 150

Exercise limitation and muscle pain 152

Peripheral weakness 154

Unsteadiness and falls 158

Abnormal head size 162

Abnormal head shape 164

Unusual movements 166

Sleep disturbance 170

The floppy infant 174

4 Specific conditions 177 Spina bifida and related disorders 178

Acquired spinal cord injury 184

Hydrocephalus 186

DETAILED CONTENTS1 xvii

Epilepsy 194

Investigating epilepsy 204

Am I missing an underlying cause? 208

Treatment of epilepsy 212

Epilepsy and daily life 222

Non-epileptic paroxysmal phenomena 226

Headache 232

Stroke 238

Neuromuscular conditions 242

Disorders of muscle 244

Myasthenic syndromes 254

Neuropathies 260

Anterior horn cell disease 268

Management of neuromuscular disease 270

Cerebral palsies 274

Care of the disabled child 286

Feeding assessment and management 294

Incontinence 298

Communication 300

Special senses 302

Respiratory disease in neurodisability 304

Acquired brain injury: specific considerations 306

Neurodegenerative conditions 312

Infection of the CNS 324

Demyelinating disease 344

CNS vasculitis and collagen vascular disease 348

CNS tumours 350

Functional illness 358

Mitochondrial disease 364

Neurotransmitter disorders 368

Vitamin-responsive conditions 374

1DETAILED CONTENTS xviii

Movement disorders 380

Neurocutaneous syndromes 392

Sleep disorders 398

5 Consults with other services 405 General principles 406

PICU consults 408

Neurosurgical consults 418

Renal consults 420

Consults on the oncology ward 422

CNS features of rheumatic disease 426

Gastroenterology consults 432

Endocrinology consults 434

Consults on the cardiology ward 436

Psychiatry consults 438

Neuropsychiatric liaison work 440

Neonatal neurology 444

Neonatal encephalopathy 450

6 Emergencies 463 Status epilepticus 464

Status dystonicus 474

The child who suddenly stops walking 480

Flaccid weakness or paralysis 486

Acute ataxia 492

Coma 494

Traumatic coma 500

Acute agitation 506

Sudden onset visual loss 508

7 Pharmacopoeia 509

Index 547 Detailed contents

1 xix

Abbreviations

ABC airway, breathing, circulation ABG arterial blood gases ABI acquired brain injury ACE angiotensin-converting enzyme AChR acetylcholine receptor ADEM acute disseminated encephalomyelopathy ADHD attention-deficit hyperactivity disorder AED antiepileptic drug AFP alpha-fetoprotein AIDP acute inflammatory demyelinating polyneuropathy ALD adrenoleucodystrophy ALTE acute life-threatening events AMAN acute motor axonal neuropathy AMC arthrogryposis multiplex congenita ANCA antineutrophil cytoplasmic antibody AOA ataxia oculomotor ataxia APD afferent pupillary defect BAS British Ability Scales BBB blood–brain barrier BECTS benign epilepsy with centrotemporal spikes BFNC benign familial neonatal convulsions BMD Becker muscular dystrophy BMT bone marrow transplant BSD brainstem death CAE childhood absence epilepsy CAMHS child and adolescent mental health services CBF cerebral blood flow CBZ carbamazepine CDG congenital disorder of glycosylation (also known as

carbohydrate- deficient glycoprotein syndrome) CEOP childhood epilepsy with occipital paroxysms CFAM cerebral function analysis monitor CFS/ME chronic fatigue syndrome/myalgic encephalomyelopathy CGD chronic granulomatous disease Abbreviations

1ABBREVIATIONS xx

CIDP chronic inflammatory demyelinating neuropathy CMAP compound muscle action potential CMD congenital muscular dystrophy CMT Charcot–Marie–Tooth disease CMV cytomegalovirus CNS central nervous system COX cytochrome oxidase CP cerebral palsy CPK creatinine phosphokinase CPP cerebral perfusion pressure CRP c-reactive protein CSE convulsive status epilepticus CSF cerebrospinal fluid CSI craniospinal irradiation CSW cerebral salt wasting CSWS continuous spike–wave discharges during slow wave sleep CT computerized tomography CTA computerized tomographic angiography CVA cerebrovascular accident CVI cerebral (or cortical) visual impairment CVID common variable immunodeficiency CVVH continuous veno-venous haemofiltration DCD developmental coordination disorder DI diabetes insipidus DIDMOAD diabetes insipidus, diabetes mellitus, optic atrophy and

deafness DMD Duchenne muscular dystrophy DNET dysembryoplastic neuroepithelial tumour DRPLA dentato-rubral-pallido-luysian atrophy DSA digital subtraction angiography DSM-IV Diagnostic and Statistical Manual of Mental Disorders-

fourth edition DTR deep tendon reflex DWI diffusion-weighted image EBV Epstein–Barr virus ECMO extracorporal membrane oxygenation EDH extra-dural haemorrhage EEG electroencephalography

ABBREVIATIONS1 xxi

EIEE early infantile epileptic encephalopahty (Ohtahara

syndrome) ELISA enzyme-linked immunosorbent assay EMD Emery–Dreyfus dystrophy EME early myoclonic encephalopathy EOG electrooculogram EPC epilepsia partialis continua ERG electroretinogram ESES electrical status during slow-wave sleep

(synonymous with CSWS) EVD extra-ventricular drain FII factitious or induced illness FISH fluorescent in situ hybridization FLAIR fluid-attenuated inversion recovery—MRI sequence fMRI functional MRI FRAX fragile X locus FSH facio scapulo humeral FTT failure to thrive FVC forced vital capacity GABA gamma-aminobutyric acid GAG glycosaminoglycan GAMT guanidinoacetate methyltransferase GBS Guillain–Barré syndrome GCS Glasgow coma score GCT germ cell tumour GERD gastro-oesophageal reflux disease GHB gamma-hydroxybutyrate GIT gastrointestinal tract GLUT1 DS glucose transporter enzyme 1 deficiency syndrome GMFCS Gross Motor Function Classification Score GMH germinal matrix haemorrhage GSD glycogen storage disease GTCS generalized tonic–clonic seizure HAART highly active antiretroviral therapy HELLP haemolysis, elevated liver enzymes with low platelet countHHV herpes hominis virus HIE hypoxic–ischaemic encephalopathy HLA human leucocyte antigen—the major human

histocompatability antigens

1ABBREVIATIONS xxii

HMSN hereditary sensory motor neuropathy HNPP hereditary neuropathy with liability to pressure palsies HSV herpes simplex virus HUS haemolytic–uraemic syndrome HVA homovanilic acid ICF International Classification of Functioning, Disability and

Health ICP intracranial pressure IDDM insulin-dependent diabetes mellitus IEF isoelectric focusing IEM inborn error of metabolism IIH idiopathic intracranial hypertension ILAE International League Against Epilepsy INAD infantile neuraxonal dystrophy INO internuclear ophthalmoplegia INR international normalization ratio IOP intraocular pressure IPH intraparenchymal haemorrhage IS infantile spasms IVA isovaleric acidaemia IVIE Intravenous immunoglobulin IVH intraventricular haemorrhage IVIG intravenous immunoglobulin JAE juvenile absence epilpesy JME juvenile myoclonic epilepsy JRA juvenile rheumatoid arthritis LEV levetiracetam LGMD limb girdle muscular dystrophy LGS Lennox–Gastaut syndrome LHON Leber’s hereditary optic neuropathy LKS Landau–Kleffner syndrome LMN lower motor neuron MAO monoamine oxidase MCA middle cerebral artery MCAD medium chain acyl coenzyme A MCT medium chain triglyceride MECP2 methyl-CpG-binding protein 2 gene—common Rett

syndrome gene

ABBREVIATIONS1 xxiii

MELAS mitochondrial encephalomyopathy, lactic acidosis and

stroke-like episodes MERRF myoclonic epilepsy and ragged-red fibre MIBG metaiodobenzyl guanidine (iodine 123) MLD metachromatic leucodystrophy MLF medial longitudinal fasciculus MLST multiple sleep latency test MMA methylmalonic acidaemia MMSE Mini-mental State Examination MNGIE myopathy and external ophthalmoplegia; neuropathy;

gastrointestinal; encephalopathy MPGR multi-planar gradient echo sequence—on MRI MPS mucopolysaccharidosis MRA magnetic resonance angiography MRC Medical Research Council MRI magnetic resonance imaging MRS magnetic resonance spectroscopy MRV magnetic resonance venography MS multiple sclerosis MSUD maple syrup urine disease 5-MTHF 5-methyl tetrahydroflorate MUP motor unit potential NAI non-accidental injury NARP neuropathy, ataxia and retinitis pigmentosa NBIA neurodegeneration with brain iron accumulation NCC neurocysticercosis NCL neuronal ceroidal lipofuscinosis NCSE non-convulsive status epilepticus NCV nerve conduction velocity NEAD non-epileptic attack disorder NGT nasogastric tube NIPPV non-invasive positive pressure ventilation NKH non-ketotic hyperglycinaemia NMJ neuromuscular junction NPV negative predictive value NSAID non-steroidal anti-inflammatory drug NTD neural tube defect OCD obsessive–compulsive disorder OCP oral contraceptive pill

1ABBREVIATIONS xxiv

OGB oligoclonal band OKN optokinetic nystagmus OT occupational therapist PANDAS paediatric autoimmune neuropsychiatric disorders

associated with streptococcal infection PCR polymerase chain reaction PCWP pulmonary capillary wedge pressure PDD pervasive developmental disorder PDH pyruvate dehydrogenase PEG percutaneous endoscopic gastrostomy PEHO progressive encephalopathy with oedema, hypsarrhythmia

and optic atrophy PET positron emission tomography PHT phenytoin PICU paediatric intensive care unit PKAN pantothenate kinase-associated neurodegeneration PKU phenylketonuria PLEDS periodic lateralized epileptiform discharge PMD Pelizaeus–Merzbacher disease PME progressive myoclonus epilepsy PML progressive multifocal leucoencephalopathy PNDC progressive neuronal degeneration of childhood with liver

disease (Alpers) PNET primitive neuroectodermal tumour PNS peripheral nervous system PPHN persistent pulmonary hypertension of the newborn PPV positive predictive value PRN as required: Latin pro re nata PTA post-traumatic amnesia PTH parathormone PVL periventricular leucomalacia RAPD relative afferent pupillary defect RAS reflex asystolic syncope/reflex anoxic seizure; also rapid

antigen screen RBC red blood cell RCDP rhizomelic chondrodysplasia punctata RCPCH Royal College of Paediatrics and Child Health RCT randomized controlled trial REM rapid eye movement

ABBREVIATIONS1 xxv

RICP raised intracranial pressure SAH subarachnoid haemorrhage SALT speech and language therapist SCA spinocerebellar ataxia SCID subacute combined immunodeficiency SDH subdural haemorrhage SFEMG single fibre electromyography SIADH syndrome of inappropriate antidiuretic hormone secretionSLE systemic lupus enythematosus SMA spinal muscular atrophy SMEI severe myoclonic epilepsy of infancy SPECT single photon emission computerized tomography SSEP somatosensory evoked potential SSPE subacute sclerosing panencephalitis SSRI selective serotonin reuptake inhibitor SUDEP sudden unexpected death in epilepsy SWS Sturge–Weber syndrome SXR skull X-ray TBI traumatic brain injury TBM tuberculous meningitis TDS three times a day: Latin ter die sumendus TIA transient ischaemic attack TORCH toxoplasmosis, rubella, cytomegalovirus, herpes

simplix virus TTP thrombotic thrombocytopenic purpura UBE3A ubiquitin protein ligase gene -Angelman syndrome ULD Unverricht–Lundborg disease UMN upper motor neuron USS ultrasound scan URTI upper respinatory tract injection UTI urinary tract injection VATER vertebral defects, anal atresia, tracheoesophageal fistula,

oesophageal atresia, radial and renal anomalies vCJD variant Creutzfeldt–Jakob disease VEP visual evoked potential VLCFA very long chain fatty acid VMA vanillylmandelic acid VNS vagus nerve stimulator VP ventriculo-peritoneal

1ABBREVIATIONS xxvi

VPA valproate VZV varicella zoster virus WCE white cell enzyme WISC Wechsler Intelligence Scale for Children WPPSI Wechsler Preschool and Primary Scale of Intelligence X-ALD X-linked adrenoleucodystrophy

547

Index

A abdominal migraine 233,

432 abdominal reflexes 25 abducens nerve (VI) 17,

17–20, 19 abetalipoproteinaemia 378 absence epilepsy with

eyelid myoclonia 201 absences 110, 213 absence status epilepticus

471 abstraction 12 acanthocytes 73 accessory nerve (XI) 22 acetazolamide 510 aciclovir 511 acid maltase deficiency

248–9 acquired brain injury

306–10, 309, 310, 411–13, 418

acquired epileptic aphasia 202–3

acrocephaly 164 ACTH 511 action dystonia 168 action tremor 168 activities 286 acuity 14, 32 acute acquired ophthalmo-

plegia 127 acute brain syndrome

116–17, 117 acute confusional state

116–17, 117 acute disseminated enceph-

alomyelitis (ADEM) 344 acute inflammatory demye-

linating polyneuropathy (AIDP) 262

acute life threatening events (ALTEs) 415–16

acute motor and sensory axonal neuropathy with prominent sensory features (AMSAN) 262

acute motor axonal neuro- pathy (AMAN) 262, 263

acute organic brain syndrome 116–17, 117

acute post-infectious cerebellitis 332

adaptive function 84–6

Addison disease 434 adenovirus 329 adrenoleucodystrophy 102,

317, 434 afferent pupillary defect 16 aggression 441 agitation 506, 506–7 Aicardi syndrome 205 akathisia 167 albumin ratio 70 Alder–Reilly granules 73 alertness 32 Alpers disease 102, 316,

367 alpha coma 412 amblyopia 124 amitriptyline 512 ammonia 72 amoebiasis 335 analgesia overuse headache

113, 234 anaphylactoid purpura 420 Angelman syndrome 207 anisocoria 16 anosmia 14 anterior cord syndrome

483 anterior horn cell infection

332–3 anterior horn disease 268 anxiety attacks 228 Apert syndrome 165 apnoea test 411 apraxia 140 aqueduct stenosis 186 arboviruses 329 Arnold-Chiari malforma-

tions 182 aromatic L-amino acid

decarboxylase deficiency 369

arousal 306, 399 arterial ischaemic stroke

239 arthrogryposis 175, 462 aseptic meningitis 328, 342,

425 Ashworth Scale, modified

287 Aspergillus fumigatus 340 aspiration 294, 295 aspirin 512 astrocytoma 351–3 ataxia 159–60, 389, 391,

425

acute 159–60, 492 episodic 107, 228 patterns in cerebellar

disease 26 ‘ship’s deck’ 158

ataxia telangectasia 389, 395–6

ataxia with vitamin E deficiency (AVED) 378

ataxic dysarthria 140 athetosis 30, 168, 381–2 atomoxetine 513 atonic seizure 107, 110, 213 attention 7, 12 autism 93, 93–4, 441–2 autoimmune myasthenia

gravis 254–8 autonomic dysfunction 425 autonomic dysreflexia 184 awareness 230, 230–1, 306 axonal neuropathies 63

B Babinksi reflex 25, 34 back pain 146, 483 baclofen 513–14

pumps 291 bacterial encephalitis 331 bacterial meningitis 324,

324–8 bacterial myositis 251 bad news 3 ballismus 168 band heterotopias 282 Barry–Albright dystonia

scale 288 basal ganglia 280, 381 base excess 72 basophilic stippling 73 Batten disease 314, 314 Batten–Spielmeyer–Vogt–

Sjörgren syndrome 317 Becker muscular dystrophy

244 behavioural stereotypy

107, 167, 228 behaviour disorder 438 Bell palsy 135 Bell phenomenon 132 benign epilepsy of child-

hood with central-temporal spikes 199, 215

INDEX

548

benign epilepsy with occipi-tal paroxysms 215

benign familial neonatal convulsions 195, 206

benign intracranial hyper-tension, see idiopathic intracranial hypertension

benign myoclonic epilepsy of infancy 197

benign myoclonus of infancy 107, 227

benign neonatal convulsions 196

benign neonatal sleep myoclonus 106, 226

benign paroxysmal torti- collis 107, 227

benign paroxysmal vertigo 107, 227, 233

benign Rolandic epilepsy 199

benzatropine (benztropine) 514

benzhexol 542 Bethlem myopathy 246 biogenic amines 369–70 biotin 379 biotinidase 75, 447 birth asphyxia 450 ‘birth day syndrome’ 291 bladder 298, 299 blood pressure 114 blood test 72–5 blue (cyanotic) breath

holding 106, 231 bone abnormalities 9 bone marrow aspirate 75 botulinum toxin 290, 514,

514–15, 515 botulism 175 bowels 299 brachial plexus injury 266 brachycephaly 164 brain abscess 333–4 brainstem

atrophy 283 death 410–11 gliomas 352–3 reflexes 495–6

brainstem auditory evoked responses 67, 413

Brown syndrome 127 buffy coat histology 72–3 bulbar function 22, 33

C calcium supplements

516–17 caloric reflex 495–6 Campylobacter jejuni 263 Canavan disease 175

candidiasis 336 carbamazepine 515–16 carbohydrate-deficient

glycoprotein syndromes 389

carboxylase deficiency 209 cardiac dysrhythmia 106,

107, 230 cardiology 436 cardiopulmonary bypass,

chorea 387 card sorting 40 carnitine 72 carotid-cavernous fistula

502 Carpenter syndrome 165 cataplexy 107, 231, 401 cataracts 120 causalgia 144–5 cavernous haemangiomas

240 central core disease 249 central dysautonomia

syndrome 307 central hyperpyrexia 307 central nervous system

infection 324, 324–42, 333, 337, 422–3

rheumatic disease 426–30 tumours 350–7 vasculitis 348

centronuclear myopathy 250

centrum semiovale 52, 54 cerebellar astrocytoma 352 cerebellar ataxia 29 cerebellar dysfunction 26 cerebellar hypoplasia and

atrophy 282 cerebellar mutism 357 cerebral abscess 333–4 cerebral aneurysms 239 cerebral angiography 48 cerebral dysgenesis 205,

281, 282 cerebral folate deficiency

syndrome 377 cerebral malaria 334 cerebral oedema 500 cerebral palsies 274,

274–84, 277, 280, 282, 283

cerebral salt-wasting 502–4, 503

cerebral visual impairment 120, 302

cerebrospinal fluid (CSF) 70–1

cerebrotendinous xanthomatosis 103

cerebrovascular accident 436

cervical auscultation 143

channelopathies 206 Charcot–Marie–Tooth

disease 260–1 cherry red spot 20 Chiari malformations 180,

182, 304 chiasm 121, 124 chiasmatic–hypothalamic

gliomas 352 childhood absence epilepsy

200, 214 childhood epilepsy with

occipital paroxysms 200 chloral hydrate 517 chlormethiazole 519 cholestatic liver disease

378 cholinergic crisis 491 chorea 168, 386–7, 387 chorea mollis 426 choroid plexus tumours

354–5 chronic fatigue syndrome

361 chronic infantile neuro-

logical cutaneous and articular (CINCA) syndrome 430

chronic inflammatory demyelinating poly- neuropathy 264

chronic progressive external ophthalmo- plegia 367

CINCA syndrome 430 circle of Willis 54 clobazam 517–18 clomethiazole 519 clonazepam 518 clonic partial motor seizure

132 clonic seizure 107, 110 clonidine 518–19 cluster headache 234–5 COACH syndrome 389 cobalamin 375–6, 376 cocktail part syndrome 191 coeliac disease 433 cognitive function 12–13,

13 cognitive syndromes 12–13 collagen vascular disease

348 collagen VI-related

myopathies 246 coma 408–10, 434, 494,

494–8, 496 traumatic 408, 500–4

communication 12, 300 complex partial seizures

110 complex regional pain

syndrome 144–5

INDEX 549

compressive optic neuro- pathies 124

computerized tomography 44

concentration 12 conduct disorder 438,

441 conduction block 63 confusional arousal 106,

399, 400 confusional migraine 233 confusional state 116–17,

117 congenital muscular dystro-

phies 245–6, 246 congenital myasthenic

syndrome 175, 258 congenital myopathies

249–51 consciousness 12, 306, 423,

494 consultation 2–3, 406 contractures 286–7, 286 coordination 26 cord tethering syndrome

180 cornea 121

opacity 20 reflex 21

corona radiata 52 corpus callosum 282 corpus striatum 53 cortical atrophy 282 cortical blindness 120 cortical infarctions 281 cortical visual impairment

302 cover test 18 cramps 152 cranial bruits 113 cranial nerves 14, 14–22,

15, 16, 17, 18, 19, 20, 21, 32–3

palsies 127, 424 reflexes 410–11

cranial ultrasound 48 craniopharyngioma 354 craniosynostosis 164–5 creatinine (phospho) kinase

271–2 Creutzfeld–Jakob disease

337 Crouzon syndrome 164 crying, asymmetric 21, 33 cryptococcal infection

340–1 cryptococcosis 336 CSF 70–1 CT angiography 44 cyanotic breath holding

106, 231 cyclical vomiting 233, 432 cyclosporin 423

cystic encephalomalacia 281

cytomegalovirus 329, 341–2

D dancing eyes and dancing

feet 130, 386 Dandy–Walker syndrome

186 dantrolene 519–20 daydreaming 231 daytime sleepiness 402 death 3 Dejerine–Sottas disease

261 delayed sleep phase

syndrome 398 delayed visual maturation

120 delirium 116–17, 117, 506,

506–7 dementia 13, 117 demyelination 63, 66,

344–6 dermatomes 27, 136 dermatomyositis 251 developmental delay

88–94, 89, 92, 93 developmental history 7 Devic disease 345 DeVivo syndrome 447 dexamethasone 520–1 dexamfetamine 520 diazepam 521–2 diencephalic syndrome 433 digital subtraction angio-

graphy 48 dihydropteridine reductase

deficiency 370 diplopia 17–20, 18 disability

care 286–92, 286, 290 giving news of 3, 3

disc herniation 146 discitis 146 distraction 107 dizziness 158 DNA testing 74 dolicocephaly 164 doll’s eye reflex 495–6 domains 84 Doose syndrome 201 dopamine B-hydroxylase

deficiency 369 Down syndrome 165,

436 Dravet syndrome 196–7 drooling 296 drowning 412 DRPLA 389, 391

drugs induced encephalopathy

423 reactions 107 unwanted effects 439

Duane retraction syndrome 19, 127

Duchenne muscular dystrophy 244, 271

dying 3 dysarthria 140–1 dysautonomia 8 dysembryoplastic neuro-

epithelial tumour 355 dysgeusia 308 dyskinesia 166, 167–9 dysmorphology 10 dyspraxia 26, 159 dystonia 30, 168–9

action 168 diseases associated with

381–2, 382 measurement 288 postural 168 secondary 383, 383 treatment 383

dystrophinopathies 244

E early infantile epileptic

encephalopathy 196 early myoclonic encephalo-

pathy 196 echinococcosis 335 edrophonium 522 electroencephalography

(EEG) 56, 56–8, 58 acquired brain injury 412 brainstem death 411 epilepsy 57, 109, 204 neonatal seizures 445

electrographic status epilepticus in sleep 203, 471–2

electromyography (EMG) 64, 64–5

electrooculogram (EOG) 66–7

electroretinogram (ERG) 66–7

Emery–Dreifus muscular dystrophy 244

endocrine myopathies 251 endocrinology 9, 434–5 endoscopic third

ventriculostomy 189 enterovirus 71 332 enteroviruses 328 entrapment neuropathies

266–7 ependymoma 353

INDEX

550

epidermal nevus syndrome 397

epilepsy 104, 108, 108–10, 109, 110, 194–225

air travel 225 alcohol 224 antiepileptic drugs

212–16, 213–15, 433, 546

autism 441–2 behavioural management

440 with continuous spike–

waves in slow-wave sleep 203, 215, 471–2

contraception 224–5, 225 cycling 224 daily life 222–5, 225 death 219–20 driving 224 EEG 57, 109, 204 emotional adjustment

223 epileptic encephalopathy

98–9, 198 genetic abnormalities

206–7 idiopathic 194 imaging 204, 204–5 investigations 204, 204–7 ketogenic diet 217–18 metabolic disorders 209 with myoclonic absences

199 with myoclonic–astatic

seizures 201 neurodegenerative disor-

ders 209, 209–10 pregnancy 224–5, 225 presumed symptomatic

194 psychomotor regression

98–9 pure epilepsies 206 reflex epilepsies 108–9 reproductive health

224–5, 225 responses 223 schooling 222–3 SUDEP 220 surgical treatment 216–17 symptomatic 194 syndromes 194–203, 195,

198 treatment 212–20,

213–15, 216 vagus nerve stimulation

218–19 water 223

episodic ataxia 107, 228 Epstein–Barr virus 329 equinus deformity 150 Erb palsy 34, 266

esotropia 126 ethosuximide 522 evoked potentials 66–8,

412–13 examination 4, 8–9, 8–10,

36–9 executive function 85 exercise limitation 152–3 exercise test 65 exotropia 126 external appearance 8–9 external hydrocephalus

163, 186 extra-axial bleeding 458 extradural haemorrhage

458 extraocular muscles 19 extubation 415 eye

examination 14, 14–20, 15, 16, 17, 18, 19

findings in neurological disease 20

movements 17, 17–20, 19, 32–3, 119, 126–30, 127

neonates 32–3

F face

asymmetric crying 21, 33 dermatomes 136 movements 21, 33, 132,

132–5, 134 numbness 136 pain 136 sensation 21, 136 weakness 132, 132–4, 134

facial nerve (VII) 21 facioscapulohumeral

dystrophy 245 factitious or induced illness

361–3 falls 158–60 fatiguability 25 fatty acid oxidation defects

249 febrile convulsions 106 feeding 294–6, 432 FISH 73–4 flaccid foot drop 29 flaccid weakness 486–91,

487, 488, 489 floppiness 174–6, 462 flunarizine 523 fluorescent in situ hybridiza-

tion (FISH) 73–74 focal cortical necrosis 451 focal epilepsies 214 focal seizure 107, 213 Fog’s test 38

folate 377–8 folinic acid 377–8, 447 fontanelle 8, 165 foot deformities 150 fosphenytoin, see phenytoin Friedreich ataxia 103, 318,

389 frontal lobe 12 frontal lobe epilepsy 206,

400 fucosidosis 321 Fukuyama congenital

muscular dystrophy 246 functional endoscopic

evaluation of swallowing (FEES) 143, 295

functional illness 358, 358–363

functional MRI 46 functional visual loss 122 fundoscopy 15, 33 fungal encephalitis 331–2 F-wave 61–2, 63

G GABA metabolism 370 gabapentin 523 GABA transaminase

deficiency 370 gag reflex 22 gait 29–30, 30, 148–9

functional illness 359 oncology 424 surgery 291

galactosialidosis 321 ganglioglioma 355 gangliosidoses 101, 321 gastroenterology consults

432–3 gastrointestinal problems 9 gastro-oesophageal reflux

disease (GERD) 294, 432

management 296 paroxysmal events 106,

226 gastrostomy 295, 296 Gaucher disease 210, 321

type 2 101 type 3 102, 316–17

gaze palsies 128 generalized epilepsy with

febrile convulsions plus 206

generalized tonic-clonic seizures 213, 214

germ cell tumours 354 germinal matrix haemor-

rhage 460, 461 gestational age 32 Glasgow Coma Scale 494

INDEX 551

glaucoma 20 glioblastoma multiforme

352–3 gliomas 351–3 global dementia 13 global developmental delay

88–9 globus pallidus 280 glossopharyngeal nerve (IX)

22 glucose transporter

deficiency 447 glue ear 21 GLUT1DS 447 glutaric aciduria type 1 162,

209 glycerine metabolism 370 glycogenoses 248–9 glycopyrrolate 523–4 glycopyrronium bromide

523–4 glycosylation disorders 389 ‘going-off feet’ 283 Gower sign 30 grasp 34 grey matter disorders 99,

100 Gross Motor Function

Classification System 288

Gross Motor Function Measure 288

growth hormone treatment 434

GTPCH I deficiency 370 guanidinoacetate methyl-

transferase (GAMT) deficiency 209

Guillain–Barré syndrome 146, 262–5, 263, 486–8, 487, 488

H haemolytic–uraemic

syndrome 420 haemorrhagic stroke

239–40 hair 8 haloperidol 524 hand, foot and mouth

disease 332 head

shape 164, 164–5 size 8, 162–3

headache 112, 112–14, 113, 232–6, 418

analgesia overuse 113, 234

cluster 234–5 management and therapy

235–6

oncology 424 raised intracranial

pressure 113, 114, 234

refractive errors 234 stress-related 234 tension-type 114

hearing 21–2, 302 loss 9, 138, 138–9, 139 neonates 33 tuning fork tests 21–2

heart abnormalities 8 hemifacial spasm 132 hemiplegia 484 Henoch–Schönlein purpura

420 heparin 524–5, 525 hepatocellular failure

432–3, 433 hepato-lenticular degenera-

tion 319–20 hereditary motor and

sensory neuropathies (HMSNs) 260–262

hereditary myoclonic dystonia 382

hereditary neuropathy with liability to pressure palsies 261

hereditary sensory and autonomic neuropathy 262

hereditary spastic para- paresis 320

herniation 495–6, 496 herpes viruses 329, 341–2 herpes zoster encephalitis

330 heterophoria 126 heteroplasmy 364 heterotropia 126 HHV-6 329, 342 higher cognitive function

12–13, 13 hip deformity/dislocation

292 histamine 526 history 4, 4–5, 6–7, 7 HIV

dementia 103 progressive encephalo-

pathy 329 hoarseness 8 holocarboxylase synthase

deficiency 379 Horner syndrome 16 H-reflex 47, 61 HSV-1/HSV-2 329 Hunter syndrome 321 Huntington disease 103,

210, 319 Hurler syndrome 321 Huttenlocher disease 316

hydrocephalus 186–92, 190, 191

antenatal detection 187 communicating 186, 187 endoscopic third ventri-

culostomy 189 external 163, 186 normal pressure 186 obstructive 186, 186–7 progressive ventricular

dilatation 188–9 shunts 189–7, 190, 418 spina bifida 180 X-linked 187

hyperammonaemia 456, 458

hyperekplexia 107, 227 hyperkalaemic periodic

paralysis 248 hypertension 114 hypertensive encephalo-

pathy 420–1 hyperventilation 228 hypnagogic hallucinations

401 hypnopompic hallucinations

401 hypocretin 173 hypoglossal nerve (XII) 22 hypokalaemic periodic

paralysis 248 hypokinesia 166 hypokinetic-rigid syndrome

169, 380, 366 hypomelanosis of Ito 397 hypomyelination 280 hyponatraemia 502–4 hypothalamic hamartoma

434 hypothalamic–midbrain

dysregulation 307 hypoxic–ischaemic ence-

phalopathy 450–3 hypoxic–ischaemic injury

309

I I-cell disease 321 ice pack test, myasthenia

129 idiopathic (benign) intra-

cranial hypertension 191, 191–2, 421

idiopathic torsion dystonia 382

ifosfamide 423 IgG 70 illness behaviour 358 immunocompromised, CNS

infection 333, 339–41 impairment 286

INDEX

552

inborn errors of meta- bolism 444, 446, 498

incontinence 298, 298–9 incontinentia pigmenti 397 infantile neuroaxonal

dystrophy (INAD) 101, 315

infantile neuronal ceroid lipofuscinosis 101, 314, 321

infantile poliodystrophy 316

infantile spasms 107, 197, 214

infective myositis 251 inflammatory myopathies

251 inflicted traumatic brain

injury 502 intelligence 84 intensive care unit 408–16,

413 intention tremor 168 International Classification

of Functioning 286 internuclear ophthalmo-

plegia 128 intoxication 107 intra-axial bleeding 458 intracerebral haemorrhage

418 intracranial haemorrhage

187, 458–61 intracranial pressure, raised

danger 495–6 headache 113, 114, 234 management 498 paroxysmal events 107

intraocular tumours 124 intraparenchymal haemor-

rhage 460, 501 intrapartum hypoxia 277 intrathecal medicine 80 intravenous immuno-

globulin 526 intraventricular haemor-

rhage 186, 460, 461 investigation 42, 42–3, 43 ischaemic lactate test 74

J Jansky–Bielschovsky

syndrome 315–16 Japanese encephalitis virus

332 jaw jerk 21 JC virus 341 Jeavon syndrome 201 jitteriness 34, 384 joint abnormalities 9 Joubert syndrome 304, 389

juvenile absence epilepsy 202, 214

juvenile dermatomyositis 251

juvenile Huntington disease 103, 319

juvenile myasthenia gravis 254–5

juvenile myoclonic epilepsy 202, 214

juvenile neuronal ceroid lipofuscinosis 102, 317

K karyotype analysis 73 Kawasaki’s disease 427–8 Kearn–Sayre syndrome 367 kernicterus 276, 280 ketamine 526–7 ketogenic diet 217–18 kidney problems 9 kinesiogenic paroxysmal

dystonias/dyskinesias 106, 107, 229

Kinsbourne syndrome 386 Klein–Levin syndrome 401 Klumpke paralysis 266 Kouska’s fallacy 40 Krabbe leucodystrophy

101, 314, 321 Kugelberg–Welander

disease 268

L labyrinthitis 158 lactate:pyruvate ratio 73 Lafora body disease 103,

320 Lambert–Eaton myasthenic

syndrome 256 lamotrigine 527 Lance –Adams syndrome

386 Landau–Kleffner syndrome

139, 202–3, 215, 472 language

delay 91–2, 92 giving bad news 3

late infantile neuronal ceroid lipofuscinosis 102, 315–16, 321

latex allergy 181 L-DOPA 528 Leber congenital amaurosis

120 Leber hereditary optic

neuropathy 367 Leigh disease/syndrome

102, 304, 367

Lennox–Gastaut syndrome 201, 215

lens 20, 121 lesion

age of insult 5 location 4 momentum 5

leucoencephalopathy with vanishing white matter disease 319

levetiracetam 527–8 levodopa 528 Lhermitte’s sign 425 limb ataxia 26 limb girdle muscular

dystrophy 245, 246 linear sebaceous nevus 397 lipomyelomeningocoele

178 locked-in syndrome 306 lorazepam 528 low molecular weight

heparin 524–5, 525 lumbar puncture 79–80 Lyme disease 338–9 lymphocytes, vacuolated 73 lymphocytic chorio-

meningitis 329 lysinuric protein intolerance

432 lysosomal (white cell)

enzymes 72, 320–1

M macrocephaly 162–3 macro-electromyography

65 macula 20, 121 magnetic resonance imaging

(MRI) 44–8, 47, 48 malabsorption states 433 malignant hyperthermia

250–1 mannitol 529 mannosidosis 321 manometry 79–80 Marcus–Gunn jaw-winking

129 masturbation 228 McArdle disease 249 measles 329 medulloblastoma 353 MELAS 367 melatonin 529–30 memory 12 meningeal tumours 356 meningitis 324, 324–8, 342 meningocoele 178 mental retardation 88–94,

89, 92, 93 mental status 85

INDEX 553

metabolic acidosis 457 metabolic disorders 162,

209 metabolic encephalopathies

453–8, 456, 457, 458, 459, 461

metabolic myopathies 248–9

metachromatic leuco- dystrophy (MLD) 101, 175, 315, 321

methylphenidate 530 methylprednisolone

530–1 microcephaly 162, 163 midazolam 531 migraine 232–3

abdominal 233, 432 aura 232 basilar-type 233 complicated 233 confusional 233 diagnosis 114, 232 management and therapy

235 pointers 113 prophylaxis 236 triggers 233 visual disturbances 122

milkmaid phenomenon 168

milkscan 295 Miller–Dieker syndrome

206 Miller–Fisher syndrome

262, 264 minicore disease 250 minimally conscious state

306 Mini-Mental State

Examination 13 mirror movements 167 mitochondrial disease 102,

249, 364–7 mitochondrial myopathy,

encephalopathy, lactic acidosis and stroke- like episodes (MELAS) 367

Miyoshi myopathy 245 Modified Ashworth Scale

287 modules 84 Moebius syndrome 19, 33 Mohr–Tranebjaerg

syndrome 382 Mollaret disease 342 molybdenum cofactor

deficiency 165 momentum of lesion 5 monoamine oxidase

deficiency 369 Moro reflex 34

mosaicism 364 motor delay 90 motor impairment 287–9 movement disorders 166,

380–91, 381, 382, 383, 387, 391

moya-moya 239 MRI 44–8, 47, 48 mucolipidoses 266, 321 mucopolysaccharidoses

266, 316, 321 multifocal cortical necrosis

451 multiple sclerosis 344, 346 multiple sleep latency test

173 mumps 329 muscle

biopsy 75–6, 78–9 disorders 244–52, 246 pain 152–3 strengthening and

stretching exercises 289

muscle eye brain disease 246

muscular dystrophies 244–6, 246

myalgic encephalomyelitis 361

myasthenia gravis 491 ice pack test 129 juvenile 254–5 neonatal 175

myasthenic crisis 491 myasthenic syndromes 254,

254–8, 256–7, 258 mycotic infections 335 myelination, delayed 280 myelomeningocoele 178 myelopathy 425 myoclonic astatic epilepsy

215 myoclonic epilepsies 385 myoclonic epilepsy with

ragged-fibres 367 myoclonic seizures 110,

210, 213 myoclonic status epilepticus

201 myoclonus 169, 385–6 myoglobinaemia 475 myoglobinuria 421 myokimia 132 myophosphorylase

deficiency 249 myotonia 155 myotonia congenita 247 myotonic disorders

246–8 myotonic dystrophy

246–7 myotubular myopathy 250

N narcolepsy 173, 231, 401,

402 nasogastric tubes 295 near-drowning 412 neck

asymmetric tonic reflex 34

movements 22 negative predictive value

42 nemaline rod myopathy

250 neonatal onset multisystem

inflammatory disease (NOMID) 430

neonates brain death 452 depression 450 encephalopathy 450–62,

451, 456, 457, 458, 459, 461

examination 32–5, 34, 36 floppiness 462 myasthenia 175 neurology 444, 444–9,

446, 448 seizures 208, 444, 444–9,

446, 448, 470 status epilepticus 469–70,

470 stroke 462 weakness 462

neoplasms 9 neostigmine 531–2 nerve

biopsy 76 conduction studies 60,

60–3, 61, 62, 63 nesidioblastosis–

hyperinsulinism 435 neuroanatomy 50, 50–4,

51, 52, 53, 54 neuroblastoma 355 neurocutaneous melanosis

397 neurocutaneous syndrome

32, 392–7, 395 neurocysticercosis 335 neurodegeneration 209,

209–10, 312–22, 314, 321 neurodegeneration with

brain iron accumulation (NBIA) 102, 318

neurofibromatosis type 1 392–3

neurofibromatosis type 2 393

neuroleptic malignant syndrome 439, 478

neuromuscular conditions 242, 270–2

INDEX

554

neuromyelitis optica 345 neuronal ceroid lipofusci-

noses (NCL) 101, 102, 124, 314, 315–16, 317, 321

neuronal intranuclear inclusion disease 380

neuropathies 260, 260–7, 263, 264

neurophysiology 56, 56–68, 58, 60, 61, 62, 63, 64

neuropsychiatric liaison work 440–2

neuropsychological testing 84–6

neuroradiology 44–54, 47, 48, 50, 51, 52, 53, 54

neurosurgical consults 418

neurotransmitter disorders 368–72

Niemann-Pick disease 101, 102, 318, 321

nightmares 400 night terrors 106, 400 nitrazepam 532 nodes, enlarged 8 NOMID 430 non-accidental traumatic

brain injury 502 Nonaka myopathy 245 non-epileptic attack

disorder (NEAD) 231 non-ketotic hyper-

glycinaemia 446–9 non-paralytic squint 126 non-progressive pan-

cerebellar atrophy 389 non-verbal communication

12 nose-picking principle 43 numbness 144–5 nutrition 294 nutritional amblyopia 124 nystagmus 17, 20, 129–30

O object permanence 7 ocular motor apraxia 128 oculocephalic reflex 495–6 oculomotor apraxia 20,

389 oculomotor nerve (III) 17,

17–20, 19 oculovestibular reflex

495–6 Ohtahara syndrome 196 olfactory nerve (I) 14 oligodendroglioma 351–2 oligosaccharidoses 321 oncology consults 422–5

onset of symptoms and signs 4–5, 5

ophthalmoplegia 20 opisthotonus 107 oppositional defiant

disorder 441 opsoclonus 130 opsoclonus-myoclonus

syndrome 130, 386 optic atrophy 20 optic nerve (II) 14, 14–16,

15, 16, 121 optic neuritis 15, 122, 345 optic radiation 122 optokinetic nystagmus

(OKN) 17, 32–3 organomegaly 9 orientation 12 orphenadrine 532 orthopaedic surgery 291–2 osteochondritis 146 osteomyelitis 146 otitis media 21 overflow contraction 168 oxcarbazepine 533 oxidative phosphorylation

defects 249 oxycephaly 164

P paediatric ICU 408–16, 413 pain perception 25–6 palatal function 22 Panayiotopoulos syndrome

200 PANDAS 427 papillitis 15 papilloedema 15 paraesthesia 424 paraldehyde 533–4 paralysis 359, 486–91, 487,

488, 489 paralytic rabies 333 paralytic squint 126–8, 127 paramyotonia 155 paramyotonia congenita

247–8 parasitic encephalitis 332 parasitic infection 334–6 parasitic myositis 251 parasomnias 106, 172,

398–401 parietal lobe dysfunction

13 Parkinson disease 380–1 parkinsonism 169, 380–1 paroxysmal dystonias/

dyskinesias 106, 107, 228–9, 229

paroxysmal events 5, 104, 104–107, 106–7, 107,

226, 226–31, 229, 230, 436

paroxysmal tonic upgaze of infancy 227

participation 286 PEHO 209 Pelizaeus–Merzbacher

disease (PMD) 101, 315 percussion myotonia 155 percutaneous endoscopic

gastrostomy (PEG) 295, 296

perioral seizure 132 peripheral blood film 73 peripheral nerve tumours

356 peripheral nervous system

24–30, 26, 27, 28, 30, 33–5, 34

peripheral neuropathy 425 peripheral neurophysiology

60–5, 60, 61, 62, 63, 64 peripheral weakness 154–6,

156 periventricular haemor-

rhagic infarction 461 periventricular leucomalacia

279, 280 pervasive developmental

disorder 93, 93–4 pes cavus 150 pes planus 150 PET 49 pH 72 phenobarbital 534, 535 phenytoin 534–6, 535 3-phosphoglycerate

dehydrogenase deficiency 209

photosensitivity 108–9, 224 pineal parenchymal

tumours 355 pizotifen 536–7 PKAN 102 plagiocephaly 164 plantar reflex 25, 34 play, symbolic 7 pointing 7 polio 332 polyarteritis nodosa 427 polymyositis 251 polyradiculopathy 422 polysomnography 172–3 pontocerebellar hypoplasia

389 porencephaly 281 port wine stain 395 positioning 289 positive predictive value 42 positron emission tomo-

graphy (PET) 49 posterior fossa syndrome

357

INDEX 555

‘post-pump’ chorea 387 post-traumatic amnesia 12 postural dystonia 168 postural tremor 167 posture 29 power 24–5, 33–4 Prader–Willi syndrome 175 praxis 12 prednisolone 537 pregabalin 538 presenting complaint 6–7 primary dystonia–

parkinsonism syndromes 380

primitive neuroectodermal tumour 355–6

prion disease 337, 337–8 procyclidine 538 progressive myoclonic

epilepsy 210, 210 progressive neuronal

degeneration of child-hood 316, 367

progressive pan-cerebellar atrophy 389

pronator drift 24 propranolol 538–9 proto-linguistic pointing 7 protozoan infection 334–6 proximal myotonic myo-

pathy 247 proximal weakness 29 pseudobulbar palsy 133 pseudoseizure 231 pseudo-squint 126 pseudotumour cerebri

191–2 psychiatry 438–9 psychomotor regression

98–103, 100, 101, 102, 102–3, 103

psychosis 117, 438–9 ptosis 128–9 6-PTS deficiency 370 punctate haemorrhage

501 pupils 16, 33, 495–6 putamen 280, 280 pyknolepsy 200 pyridostigmine 539 pyridoxal phosphate 539 pyridoxine 374–5, 375,

446–9, 540

R radicular mononeuropathy

422 rapid eye movement sleep, see REM sleep

Rasmussen syndrome 317 red reflex 15

reflex anoxic seizure 106, 107, 230

reflex asystolic syncope 230

reflex epilepsies 108–9 reflexes 25, 27, 34 reflex sympathetic

dystrophy 144–5 refractive errors 234 Refsum disease 102 REM sleep 170

disorders 106, 401 renal consults 420–1 renal transplantation 421 respiratory disease 304 retina 20, 121 retro-orbital tumours 124 Rett syndrome 101, 304,

313 review appointment 2 rhabdomyolysis 421, 475 rheumatic disease 146,

426–30 rickettsial encephalitis 331 Riley–Day syndrome 262 ring chromosome

20mosaicism 74, 206 Rinne tuning fork test 21–2 risperidone 540 ritualistic behaviour 107,

228 rocker bottom feet 150 Rolandic epilepsy 141, 199 Romberg tests 26, 29 rooting reflex 34 rubral tremor 168

S saccade initiation failure

128 saccadomania 130, 386 St Vitus dance 426–7 salivogram 295 Sandifer syndrome 106,

432 Sandoff disease 321 Sanfilippo syndrome 102,

316, 321 Santavouri–Haltia syndrome

314 sarcoidosis 429 Sarnat scoring system 451 scaphocephaly 164 Scheie syndrome 321 Schilder disease 345 schizencephaly 281 school

epilepsy 222–3 failing at 96–7

scissor gait 29 SCIWORA 184

scoliosis 146, 292 sedation 546 Seitelberger disease 315 seizures 104–5

functional illness 359 neonates 208, 444, 444–9,

446, 448, 470 neurosurgical disease 418 oncology 424

selective dorsal rhizotomy 291

selective neuronal necrosis 451

self-gratification 107, 228 Semelaigne syndrome 251 sensation 25–6 sensitivity 42 sensory ataxia 29 sensory disturbances

144–5, 359 sensory examination 35 sepiapterin reductase

deficiency 370 serial casting 289 severe myoclonic epilepsy

of infancy 196–7, 206, 215

shared attention 7 ship’s deck ataxia 158 shoes, wear patterns 24 shuddering 106, 107, 226 shunts 189–7, 190, 418

tapping 81, 81–2, 82 SIADH 502, 503 sialidosis type I 321 signs 4, 4–5, 5 simple partial motor seizure

132 single fibre EMG 65 single-gene disorders 206 single photon emission

computed tomography (SPECT) 49

skin abnormalities 8 biopsy 76, 78

sleep 170–3, 171, 172, 398–403, 400, 402

attacks 401 paralysis 106, 401 terrors 400 walking 106, 399

slit-ventricle syndrome 190 Sly syndrome 321 SMARD 268 social-emotional functions

85 somatosensory evoked

potentials 67–8, 413 sound and speech produc-

tion disorders 140 spasms 110 spasmus nutans 130, 384

INDEX

556

spastic dysarthria 140 spastic hemiparesis 29 spasticity 286–7, 286, 287,

289–92, 290 spastic paraparesis 29 specificity 42 specific language delay

91–92, 92 specific motor delay 90 SPECT 49 speech 140–1 speech and language

disorder 140 sphingolipidoses 321 spina bifida 178, 178–82,

180 spina bifida occulta 178 spinal cord

compression 489 infection 422 injury 184, 184–5

spinal muscular atrophy 268, 268

type I 175, 268 spinocerebellar ataxias

(SCA) 103, 389, 391 splints 289 spondylolisthesis 146 spondylolysis 146 squint 18, 119, 126–8, 127 SSPE 103, 336–7 status dystonicus 474–9,

476–7 status epilepticus 464,

464–472, 465, 466, 467, 467–8, 469, 470, 471

absence status epilepticus 471

clustering 469 conditions mistaken for

465 convulsive 464, 467,

467–8 electrographic status

epilepticus in sleep 203, 471–2

myoclonic 201 neonates 469–70, 470 non-convulsive 464, 471 refractory 416, 467,

467–8, treatment algorithm 465,

465–6, 466 stepping reflex 34 stereotypies 107, 167, 228 sternocleidomastoid 33 steroids 423 stiffness 152, 152–3 stigmata 32 stimulus deprivation

amblyopia 124 stiripentol 541 strength 28

stress-related headache 234

stridor 8 stroke 9, 238–41

cardiac procedures 436 neonatal 462 oncology 424

stroke-like episode 238 Sturge–Weber syndrome

394–5, 395 subacute sclerosing panen-

cephalitis (SSPE) 103, 336–7

subarachnoid haemorrhage 459, 501

subdural haemorrhage 459, 501

subtelomeric microdele-tions 89

succinic semialdehyde dehydrogenase deficiency 370

sucking reflex 34 SUDEP 220 sulphatide lipidosis 315 sulphite oxidase deficiency

165 sumatriptan 541 supranuclear gaze palsy 128 supratentorial primitive

neuroectodermal tumour 355–6

surgical sieve 4 swallowing 8, 142–3, 295 swinging penlight test 16 Sydenham chorea 426–7 symbolic play 7 symptoms 4–5, 5 syncope 106, 107, 230 syndrome of inappropriate

ADH secretion (SIADH) 502, 503

synthesis 40 syringomyelia 180, 185 systemic lupus erythe-

matosus 428–9

T tardive dyskinesia 439 Tay–Sachs disease 175,

314, 321 ‘teaching hospital

syndrome’ 406 telangectasia 20 temperature perception

25–6 temporal lobe dysfunction

13 Tensilon® test 254 tension-type headache 114 tetracosactide 511

tetrahydrobiopterin reclamation defects 370

tetrahydrobiopterin syn- thesis defects 369

thalamus 280 theory of mind 7 tiagabine 542 tickle 26 tics 107, 132, 167, 228, 388,

440 time-course 4–5, 5 tingling 144–5 toe walking 149 tone 24, 33–4 tongue movements 22 tonic seizures 107, 110,

213 tonic spasms 110 tonsils, enlarged orange 8 topiramate 543 torticollis 382, 382 total parenteral nutrition

433 touch perception 26 Tourette syndrome 388,

440 toxic amblyopia 124 toxic myopathies 251 toxoplasmosis 340 transferrin isoforms 74 transient idiopathic dystonia

of infants 381 transient ischaemic attack

238 transient neonatal

myasthenia 255 transverse myelitis 146,

345–6, 490 traumatic brain injury 306,

309 non-accidental 502

traumatic dissection 502 tremor 167–8, 384–5, 434 trigeminal nerve (V) 21 trigone 53 trigonocephaly 164 trihexyphenidyl 542 trochlear nerve (IV) 17,

17–20, 19 tuberculous meningitis 324,

327–8 tuberous sclerosis 393–4,

436 tuning fork tests 21–2 tyrosine hydroxylase

deficiency 369

U Ulrich myopathy 246 unconscious child 38–9 unsteadiness 158–60

INDEX 557

Unverricht–Lundborg disease 103, 318–19

uraemia 421 urea-cycle disorders 209 urine 71–2

V vagus nerve (X) 22 vagus nerve stimulation

218–19 valproate 543–5 vanishing white matter

disease 319 variant Creutzfeld–Jakob

disease (vCJD) 103, 320, 337, 337–8

varicella zoster 329, 342 vasculitis 348, 427 vaso vagal syncope 230 vegetative state 306 venous infarction 239 venous pulsation 15, 16 ventilator

abnormal movements 415

weaning 413, 413–15 ventriculomegaly 186, 187 verbal communication 12 vertical gaze palsy 128 vertigo 158 very long chain fatty acids

74–5 vestibular disease 159 videofluorographic swallow-

ing study 143, 295

vigabatrin 544 viral encephalitis 329–32 viral meningitis 324,

328–9 viral meningo-encephalitis

329–32 viral myositis 251 vision 118, 118–24, 119,

121, 122, 124, 302–3 visual acuity 14, 32 visual cortex 122 visual evoked potentials 66,

413 visual fields 14, 14–16 visual tracking 33 visuomotor function 85 visuoperception 303 visuospatial tests 85 vitamin B6 374–5, 540 vitamin B12 375–6, 376 vitamin D supplements

516–17 vitamin E 378, 378–9 vitamin-responsive

conditions 374–9, 375, 376, 378

voice disorders 140 vomiting 432 Von Hippel–Lindau disease

396–7 von Recklinghausen disease

392–3

W Walker Warburg syndrome

246

walking delayed 90 funny walks 148–9 suddenly stopping 480–2,

480–4, 483, 484 warfarin 544, 545 watershed infarction 451 water swallow test 143 weakness 152–3

emergencies 486–91, 487, 488, 489

neonates 462 patterns 28 peripheral 154–6, 156

Weber tuning fork test 22 Werdnig–Hoffman disease

175, 268 West Nile virus 332 West syndrome 197, 208 white cell enzymes 72,

320–1 white matter disorders

100 Wilson disease 103,

319–20, 433 withdrawal of care 413 Wolf–Hirschhorn

syndrome 206 Worster–Drought

phenotype 274

Z Zellweger syndrome 165,

175 zonisamide 545–6