OXFORD MEDICAL PUBLICATIONS Paediatric Neurology
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OXFORD MEDICAL PUBLICATIONS
Paediatric Neurology
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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)
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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.
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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.
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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.
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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