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Illustrated Textbook of Paediatrics

Illustrated Textbook of Paediatrics

Tom Lissauer | Will Carroll

(2017)

Additional Information

Book Details

Abstract

Thoroughly revised and updated, the fifth edition of this prize-winning title retains the high level of illustration and accessibility that has made it so popular worldwide with medical students and trainees approaching clinical specialty exams. Illustrated Textbook of Paediatrics has been translated into eight languages over its life.

  • Case studies.
  • Summary boxes.
  • Tips for patient education.
  • Highly illustrated with 100s of colour images.
  • Diseases consistently presented by Clinical features; Investigations; Management; Prognosis; and, where appropriate, Prevention.

Separate chapters on

  • Accidents
  • Child protection
  • Diabetes and endocrinology
  • Inborn Errors of Metabolism

New chapter on Global child health

New co-editor, Will Carroll, Chair of MRCPCH Theory Examinations.


Table of Contents

Section Title Page Action Price
Front Cover cover
Inside Front Cover ifc1
Illustrated Textbook of Paediatrics i
Copyright Page iv
Table Of Contents v
Foreword vi
Preface vii
List of Contributors viii
Acknowledgements xii
1 The child in society 1
The child’s world 1
The child 1
Immediate social environment 1
Family structure 1
Parenting styles 3
Siblings and extended family 3
Cultural attitudes to child-rearing 3
Peers 4
Socioeconomic status 4
Local social fabric 4
Neighbourhood 4
Health service delivery 4
Schools 4
Travel 5
National and international environment 5
Economic wealth 5
Media and technology 5
War and natural disasters 5
Well-being 5
Important public health issues for children and young people 5
Child mortality (Fig. 1.4) 5
Comparison with other European countries 6
Inequalities in child heath 7
What causes inequalities? 7
Child protection and variation in outcomes 7
Obesity 7
Emotional and behavioural difficulties 7
Disability 7
Smoking, alcohol, and drugs 7
Major public child health initiatives 7
National Service Framework 7
Every Child Matters 7
The Healthy Child Programme and Family Nurse Partnership 7
Sure Start 8
Conclusion 8
Acknowledgements 8
Further reading 8
Websites (Accessed November 2016) 8
Child health initiatives 8
2 History and examination 9
Taking a history 10
Introduction 10
Presenting symptoms 10
General enquiry and systems review 11
Past medical history 11
Medication 11
Family history 11
Social history 11
Development 12
An approach to examining children 12
Adapting to the child’s age 12
Obtaining the child’s cooperation 13
Undressing children 13
Warm, clean hands 13
Developmental skills 13
Examination 13
Initial observations – watch before you examine 13
Severity of illness 13
Measurements 13
Approach to examination 14
General appearance 14
Respiratory system 14
3 Normal child development, hearing and vision 27
Influence of heredity and environment 27
Fields of development 28
Developmental milestones 28
Median and limit ages 29
Variation in the pattern of development 29
Why motor development is most rapid in the first years of life 29
Adjusting for prematurity 29
Is development normal? 29
Pattern of child development 30
Cognitive development 30
Analysing developmental progress 36
Detailed assessment 36
The short-cut approach 36
Observation during questioning 37
Equipment for developmental testing 37
Developmental screening and assessment 37
Child health surveillance 38
Hearing 39
Hearing tests 39
Newborn 39
Distraction testing 39
Visual reinforcement audiometry 39
Performance and speech discrimination testing 39
Audiometry 42
Parental concern 42
Vision 42
Vision testing 42
Acknowledgements 43
Further reading 43
Websites (accessed November 2016) 43
4 Developmental problems and the child with special needs 44
Abnormal development – key concepts 46
Developmental delay 47
Abnormal motor development 47
Cerebral palsy 48
Causes 49
Clinical presentation 49
Spastic cerebral palsy 49
Dyskinetic cerebral palsy 51
Ataxic (hypotonic) cerebral palsy 51
Management 51
Disordered speech and language development 53
Abnormal development of social/communication skills (autism spectrum disorders) 53
Management 54
Slow acquisition of cognitive skills/general learning difficulty 54
Specific learning difficulty 54
Developmental coordination disorder or dyspraxia 54
Dyslexia 55
Dyscalculia, dysgraphia 55
Disorder of executive functions 55
Associated comorbidities of specific learning disorders 55
Management of specific learning disorders 55
Problems with concentration and attention 55
Attention deficit hyperactivity disorder 55
Hearing impairment 56
Sensorineural hearing loss 56
Conductive hearing loss 56
Abnormalities of vision and the ocular system 58
Nystagmus 58
Squint (strabismus) 58
Corneal light reflex test 59
Cover test 59
Refractive errors 59
Hypermetropia (long sight) 59
Myopia (short sight) 59
Astigmatism (abnormal corneal curvature) 59
Amblyopia 59
Severe visual impairment 59
Multidisciplinary child development services 60
Education 62
Transition of care to adult services 62
The rights of disabled children 63
Acknowledgements 63
Further reading 63
Websites (Accessed November 2016) 63
5 Care of the sick child and young person 64
Primary care 64
Secondary care 65
Emergency and urgent care 65
Hospital admission rates 65
Children in hospital 67
Putting the family and child at the centre of care 67
Child-orientated environment 67
Information and psychosocial support 67
Skilled staff 67
Multidisciplinary care – coordinating care across boundaries 67
Tertiary care and networks 67
Discharge from hospital 68
Pain in children 69
Acute pain 69
Chronic pain 69
Management 69
Recognizing pain 69
Responding to pain 69
Reassessing pain 70
Prescribing medicines for children 70
Absorption 70
Biology 70
Clearance 70
Distribution 70
Communicating serious problems 71
Initial interview 71
Palliative and end-of-life care 71
Care plan 71
Place of care 71
Care after death 71
Caring for staff 71
Ethics 72
Definitions of the principles of medical ethics 72
Application of ethical principles to paediatrics 72
Non-maleficence 72
Beneficence 73
Justice 73
Autonomy 73
Truth telling 73
Consent 73
Confidentiality 73
Best interests 73
The ethics of research in paediatrics 73
Evidence-based paediatrics 75
Why practise evidence-based paediatrics? 75
To what extent is paediatric practice based on sound evidence? 78
Acknowledgements 79
Further reading 79
Websites (Accessed November 2016) 79
6 Paediatric emergencies 80
The seriously ill child 80
Cardiopulmonary resuscitation 83
Paediatric basic life support 83
Paediatric advanced life support 83
The seriously injured child 83
Respiratory failure 83
Assessment 83
Supportive therapy 83
Oxygen 83
Noninvasive ventilation 83
Invasive ventilatory support 87
Shock 87
Why are children so susceptible to fluid loss? 87
Clinical features 87
Management priorities 88
Fluid resuscitation 88
Subsequent management 88
Sepsis 88
Clinical features 89
Management priorities 89
Antibiotics 89
Fluids 89
Circulatory support 89
Disseminated intravascular coagulation 89
Anaphylaxis 89
Neurological emergencies 90
Convulsive status epilepticus 90
Other encephalopathic illness 90
Apparent life-threatening events 94
Unexpected death of a child 94
Sudden infant death syndrome 94
Acknowledgements 96
Further reading 96
Websites (Accessed November 2016) 96
7 Accidents and poisoning 97
Accidents 97
Accident prevention 98
Head and neck injuries 98
Internal injuries 100
Choking, suffocation and strangulation 101
Drowning 101
Burns and scalds 102
Assessment 102
Further management 102
Poisoning 103
Investigation and management 104
Chronic environmental poisoning 104
Acknowledgements 108
Further reading 108
Websites (Accessed November 2016) 108
8 Child protection 109
Types of child abuse and neglect 110
Physical abuse 110
Emotional abuse 110
Sexual abuse and sexual exploitation 111
Neglect 111
Fabricated or induced illness 111
Intimate partner violence 111
Female genital mutilation 111
Prevalence of child maltreatment 111
Safeguarding children 113
Risk factors 113
Presentation 113
Child abuse and neglect 113
Neglect 116
Emotional abuse 116
Sexual abuse 116
Recognition 116
Physical symptoms 116
Behavioural symptoms 116
Signs 116
Investigation 116
Management 118
Acknowledgements 120
Further reading 120
Websites (Accessed November 2016) 120
9 Genetics 121
Chromosomal abnormalities 121
Disorders of chromosome number 122
Down syndrome (trisomy 21) 122
Clinical features 122
Cytogenetics 122
Meiotic nondisjunction (94%) 122
Translocation (5%) 124
Mosaicism (1%) 124
Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) 125
Turner syndrome (45, X) 125
Klinefelter syndrome (47, XXY) 126
Structural chromosome anomalies 126
Reciprocal translocations 126
Deletions 126
Duplications 126
Testing for submicroscopic copy number variants 126
Mendelian inheritance 127
Autosomal dominant inheritance 128
Variation in expression 128
Non-penetrance 128
De novo mutation 128
Homozygosity 128
Knudson two-hit hypothesis 128
Autosomal recessive inheritance 129
Consanguinity 129
X-linked inheritance 130
Y-linked inheritance 132
Unusual genetic mechanisms 132
Trinucleotide repeat expansion mutations 132
Fragile X syndrome 132
Mitochondrial or cytoplasmic inheritance 132
Imprinting and uniparental disomy 133
Polygenic, multifactorial or complex inheritance 134
Dysmorphology 135
Pathogenic mechanisms 135
Malformation 135
Deformation 135
Disruption 135
Dysplasia 135
Clinical classification of birth defects 135
Single-system defects 135
Sequence 135
Association 136
Syndrome 136
Syndrome diagnosis 136
Gene-based therapies 137
Genetic services 138
Genetic investigations 138
Mutation analysis 138
Next-generation sequencing 139
Genetic counselling 139
Presymptomatic (predictive) testing 140
Acknowledgements 140
Further reading 140
Website (Accessed November 2016) 140
Online resources 140
10 Perinatal medicine 142
Pre-pregnancy care 142
Antenatal diagnosis 143
Fetal medicine 143
Fetal surgery 146
Obstetric conditions affecting the fetus 146
Pre-eclampsia 146
Placental insufficiency and intrauterine growth restriction (IUGR) 146
Preterm delivery 146
Multiple births 147
Maternal conditions affecting the fetus 148
Diabetes mellitus 148
Hyperthyroidism 148
Systemic lupus erythematosus 149
Autoimmune thrombocytopenic purpura 149
Maternal drugs affecting the fetus 149
Alcohol and smoking 149
Drug abuse 150
Drugs given during labour 150
Congenital infections 150
Rubella 150
Cytomegalovirus 151
Toxoplasmosis 151
Varicella zoster 151
Syphilis 151
Adaptation to extrauterine life 152
Neonatal resuscitation 153
Meconium aspiration 158
Resuscitation of the preterm infant 158
Post-resuscitation care 158
Failure to respond to resuscitation 158
Size at birth 158
Definitions 158
Patterns of growth restriction 158
Monitoring the growth-restricted fetus 159
The growth-restricted infant 159
Large for gestational age infants 160
Routine examination of the newborn infant 160
Red reflex to identify eye abnormalities 160
Detection of undescended testes in boys 160
Checking for developmental dysplasia of the hip (DDH) 160
Vitamin K therapy 161
Newborn hearing screening 165
Oxygen saturation screening for critical congenital heart disease 165
Biochemical screening 165
Acknowledgements 165
Further reading 165
Websites (Accessed November 2016) 165
11 Neonatal medicine 166
Hypoxic-ischaemic encephalopathy 167
Management 167
Prognosis 167
Birth injuries 169
Soft-tissue injuries 169
Nerve palsies 169
Fractures 170
Clavicle 170
Humerus/femur 170
Stabilizing the preterm or sick infant 171
The preterm infant 171
Respiratory distress syndrome 171
Pneumothorax 171
Apnoea and bradycardia and desaturation 174
Temperature control 174
Patent ductus arteriosus 174
Fluid balance 175
Nutrition 175
Infection 176
Necrotizing enterocolitis 176
Preterm brain injury 176
Retinopathy of prematurity 178
Bronchopulmonary dysplasia 178
Problems following discharge 178
Jaundice 181
Kernicterus 181
Clinical evaluation 181
Age at onset 181
Jaundice <24 hours of age 181
Haemolytic disorders 181
Rhesus haemolytic disease 181
ABO incompatibility 181
G6PD (glucose-6-phosphate dehydrogenase) deficiency (see Ch. 23) 183
Spherocytosis 183
Congenital infection 183
Jaundice at 2 days–2 weeks of age 183
Physiological jaundice 183
Breast milk jaundice 183
Dehydration 183
Infection 183
Other causes 183
Severity of jaundice 183
Rate of change 183
Gestation 183
Clinical condition 183
Management 183
Phototherapy 184
Exchange transfusion 184
Jaundice at >2 weeks of age 185
Respiratory distress in term infants 185
Transient tachypnoea of the newborn 185
Meconium aspiration 186
Pneumonia 186
Pneumothorax 186
Milk aspiration 186
Persistent pulmonary hypertension of the newborn 186
Diaphragmatic hernia 186
Other causes 187
Infection 187
Early-onset infection 187
Late-onset infection 187
Some specific infections 188
Group B streptococcal infection 188
L. monocytogenes infection 188
Gram-negative infections 188
Conjunctivitis 188
Umbilical infection 188
Herpes simplex virus infections 189
Hepatitis B 189
Hypoglycaemia 189
Neonatal seizures 189
Perinatal stroke 190
Craniofacial disorders 190
Cleft lip and palate 190
Pierre Robin sequence 191
Gastrointestinal disorders 191
Oesophageal atresia 191
Small bowel obstruction 191
Large bowel obstruction 192
Exomphalos/gastroschisis 192
Child protection and the newborn 192
Acknowledgements 193
Further reading 193
Websites (Accessed November 2016) 193
12 Growth and puberty 194
Normal growth 194
Fetal 194
Infantile phase 194
Childhood phase 194
Pubertal growth spurt 194
Measurement 194
Puberty 196
Short stature 199
Familial 199
Constitutional delay in growth and puberty 199
Small for gestational age and extreme prematurity 199
Chromosomal disorder/syndromes 199
Nutritional/long-term illness 199
Psychosocial deprivation 202
Endocrine 202
Hypothyroidism 202
Growth hormone deficiency 202
Corticosteroid excess, Cushing syndrome 202
Extreme short stature 202
Disproportionate short stature 202
Examination and investigation 202
Growth hormone treatment of short stature 203
Tall stature 204
Abnormal head growth 204
Microcephaly 205
Macrocephaly 205
Asymmetric heads 205
Craniosynostosis 205
Premature sexual development 206
Precocious puberty 206
Females 206
Males 207
Management 208
Premature breast development (thelarche) 208
Premature pubarche (adrenarche) 208
Delayed puberty 209
Acknowledgements 210
Further reading 210
Websites (Accessed November 2016) 210
13 Nutrition 211
The nutritional vulnerability of infants and children 211
Low nutritional stores 211
High nutritional demands for growth 211
Rapid brain growth and development 212
Effects of acute illness or surgery 212
Long-term outcome of early nutritional deficiency 212
Linear growth of populations 212
Disease in adult life 213
Infant feeding 213
Breastfeeding 213
Advantages 214
Potential complications 214
Establishing breastfeeding 214
Formula feeding 215
Introduction of whole, pasteurized cow’s milk 216
Specialized infant formula 217
Weaning 217
Weight faltering 217
Identifying weight faltering 218
Causes of weight faltering 218
Clinical features and investigation 218
Management 219
Outcome 221
Malnutrition 221
Assessment of nutritional status 221
Dietary assessment 221
Anthropometry 222
Laboratory investigations 222
Consequences of malnutrition 222
The role of intensive nutritional support 222
Enteral nutrition 222
Parenteral nutrition (PN) 223
Severe malnutrition 223
Management 224
Stunting 224
Vitamin D deficiency 225
Rickets 226
Aetiology 226
Clinical manifestations 226
Diagnosis 226
Management 226
Other vitamin deficiencies 227
Obesity 227
Definitions 227
Aetiology 228
Prevention 229
Endogenous causes 231
Management 231
Drug treatment and surgery 231
Early childhood caries 232
Prevention of early childhood caries 232
Acknowledgements 232
Further reading 233
Websites (Accessed November 2016) 233
14 Gastroenterology 234
Vomiting 234
Gastro-oesophageal reflux 235
Investigation 236
15 Infection and immunity 256
The febrile child 256
Clinical features 256
Management 259
Serious life-threatening infections 259
Sepsis 259
Meningitis 259
Bacterial meningitis 259
Pathophysiology 259
Organisms 259
Presentation 259
Investigations 261
Management 261
Cerebral complications 261
Prophylaxis 261
Partially treated bacterial meningitis 261
Viral meningitis 261
Uncommon pathogens and other causes 261
Neonatal meningitis 261
Encephalitis/encephalopathy 261
Toxic shock syndrome 262
Necrotizing fasciitis/cellulitis 263
Specific bacterial infections 263
Meningococcal infection 263
Pneumococcal infections 264
H. influenzae infection 264
Staphylococcal and group A streptococcal infections 264
Impetigo 264
Boils 265
Periorbital cellulitis 265
Staphylococcal scalded skin syndrome 265
Common viral infections 265
The human herpesviruses 266
Herpes simplex virus infections 266
Asymptomatic 266
Gingivostomatitis 266
Skin manifestations 267
Eye disease 267
Disseminated infection 267
Chickenpox (primary varicella zoster infection) 267
Clinical features 267
Treatment and prevention 267
Shingles (herpes zoster) 268
Epstein–Barr virus: infectious mononucleosis (glandular fever) 269
Cytomegalovirus 269
Human herpesvirus 6 and human herpesvirus 7 270
Human parvovirus B19 270
Enteroviruses 270
Hand, foot, and mouth disease 270
Herpangina 270
Meningitis/encephalitis 270
Pleurodynia (Bornholm disease) 271
Myocarditis and pericarditis 271
Enteroviral neonatal sepsis syndrome 271
Uncommon viral infections 271
Measles 271
Clinical features 271
Treatment 271
Prevention 271
Mumps 272
Clinical features 272
Viral meningitis and encephalitis 272
Orchitis 272
Rubella (German measles) 272
Prolonged fever 273
Kawasaki disease 273
Tuberculosis 275
Clinical features 275
Diagnosis 275
Treatment 277
Prevention and contact tracing 277
Nontuberculous mycobacterial infections 277
Tropical infections 277
HIV infection 279
Diagnosis 280
Clinical features 280
Treatment 280
Reduction of vertical transmission 281
Lyme disease 281
Clinical features 281
Diagnosis 281
Treatment 281
Immunization 281
Rationale behind the immunization programme 282
Complications and contraindications 284
Immunodeficiency 284
Primary immunodeficiencies 284
Investigation 284
Management 286
Acknowledgements 286
Further reading 286
Websites (Accessed November 2016) 287
16 Allergy 288
Mechanisms of allergic disease 288
The hygiene hypothesis 289
The allergic march 289
Prevention of allergic diseases 289
History and examination 289
Management 290
Food allergy and food intolerance 290
Clinical features 290
Diagnosis 291
Management 292
Eczema 292
Allergic rhinitis and conjunctivitis (rhinoconjunctivitis) 292
Asthma 292
Urticaria and angioedema 293
Drug allergy 293
Insect sting hypersensitivity 293
Anaphylaxis 293
Acknowledgements 293
Further reading 293
Websites (Accessed December 2016) 293
17 Respiratory disorders 294
Physiology of stridor and wheeze 295
Upper respiratory tract infection 295
The common cold (coryza) 296
Sore throat (pharyngitis and tonsillitis) 296
Acute otitis media 296
Sinusitis 297
Tonsillectomy and adenoidectomy 297
Stridor 297
Croup 298
Acute epiglottitis 298
Bacterial tracheitis (pseudomembranous croup) 299
Other causes of stridor 299
Wheeze 300
Bronchiolitis 300
Investigations and decision to admit 301
Management 301
Prevention of bronchiolitis 301
Asthma 301
Viral episodic wheeze 302
Multiple trigger wheeze and asthma 302
Pathophysiology of asthma 302
Clinical features 303
Investigations 303
Management 303
Bronchodilator therapy 303
Preventer therapy 304
Inhaled corticosteroids 304
Add-on therapy 304
Other therapies 304
Allergen avoidance and other nonpharmacological measures 304
Acute asthma 305
Assessment 305
Criteria for admission to hospital 305
Management 306
Patient education 308
Other causes of acute wheezing 309
Cough 310
Acute cough 310
Whooping cough (pertussis) 310
Persistent or recurrent cough 310
Pneumonia 311
Clinical features 311
Management 311
Prognosis and follow-up 312
Chronic lung infection 313
Cystic fibrosis 313
Epidemiology, genetics, and basic defect 313
Pathophysiology 314
Clinical features 314
Diagnosis 315
Management 315
Respiratory management 315
Nutritional management 316
Teenagers and adults 316
Primary ciliary dyskinesia 317
Immunodeficiency 317
Tuberculosis 317
Sleep-disordered breathing 317
Tracheostomy 318
Long-term ventilation 318
Acknowledgements 319
Further reading 319
Websites (Accessed November 2016) 319
18 Cardiac disorders 320
Epidemiology 320
Aetiology 321
Circulatory changes at birth 321
Presentation 322
Antenatal diagnosis 322
Heart murmurs 322
Heart failure 322
Symptoms 322
Signs 322
Cyanosis 323
Diagnosis 323
Nomenclature 325
Left-to-right shunts 325
Atrial septal defect 325
Clinical features 325
Symptoms 325
Physical signs 325
Investigations 325
Chest radiograph 325
ECG 325
Echocardiography 325
Management 325
Ventricular septal defects 326
Small VSDs 326
Clinical features 326
Symptoms 326
Physical signs 326
Investigations 327
Chest radiograph 327
ECG 327
Echocardiography 327
Management 327
Large VSDs 327
Clinical features 327
Symptoms 327
Physical signs (Fig. 18.5b) 327
19 Kidney and urinary tract disorders 344
Assessment of the kidneys and urinary tract 344
Congenital abnormalities 344
Anomalies detectable on antenatal ultrasound screening 344
Antenatal treatment 348
Postnatal management 348
Urinary tract infection 349
Clinical features 349
Collection of samples 350
Bacterial and host factors that predispose to infection 350
Infecting organism 350
Antenatally diagnosed renal or urinary tract abnormality 351
Incomplete bladder emptying 351
Vesicoureteric reflux 351
Investigation 351
Management 352
Medical measures for the prevention of UTI 352
Follow-up of children with recurrent UTIs, renal scarring, or reflux 352
Enuresis 353
Primary nocturnal enuresis 353
Daytime enuresis 353
Secondary (onset) enuresis 354
Proteinuria 355
Nephrotic syndrome 355
Steroid-sensitive nephrotic syndrome 355
Management 355
Prognosis 356
Steroid-resistant nephrotic syndrome 357
Congenital nephrotic syndrome 357
Haematuria 357
Acute nephritis 358
Post-streptococcal and post-infectious nephritis 358
Henoch–Schönlein purpura 358
Clinical findings 359
IgA nephropathy 359
Familial nephritis 359
Vasculitis 359
Systemic lupus erythematosus (SLE) 359
Hypertension 360
Renal masses 360
Renal calculi 360
Renal tubular disorders 361
Generalized proximal tubular dysfunction (Fanconi syndrome) 361
Specific transport defects 361
Acute kidney injury 361
Management 361
Prerenal failure 361
Renal failure 361
Postrenal failure 361
Dialysis 363
Haemolytic uraemic syndrome 363
Chronic kidney disease 363
Clinical features 363
Management 364
Diet 364
Prevention of renal osteodystrophy 364
Control of salt and water balance and acidosis 364
Anaemia 364
Hormonal abnormalities 364
Dialysis and transplantation 364
Acknowledgements 365
Further reading 366
Websites (Accessed November 2016) 366
20 Genital disorders 367
Inguinoscrotal conditions 367
Embryology 367
Inguinal hernia 367
Hydrocele 367
Varicocele 368
Undescended testis 368
Investigations and management 369
Acute inguinoscrotal conditions (‘the acute scrotum’) 370
Torsion of the testis 370
Torsion of appendix testis 370
Other acute inguinoscrotal conditions 371
Abnormalities of the penis 371
The foreskin 371
Non-retractile foreskin and phimosis 371
Paraphimosis 372
Circumcision 372
Hypospadias 372
Management 372
Other conditions of the penis 372
Genital disorders in girls 374
Normal anatomy 374
Vulvovaginitis/vaginal discharge 374
Labial adhesions 374
Other conditions 374
Acknowledgements 374
Further reading 374
21 Liver disorders 375
Neonatal cholestasis 375
Biliary atresia 375
Investigations 376
Treatment 376
Choledochal cysts 376
Neonatal hepatitis syndrome 376
Alagille syndrome 376
Progressive familial intrahepatic cholestasis 376
Neonatal metabolic liver disease 378
α1-Antitrypsin deficiency 378
Galactosaemia 378
Other causes 378
Viral hepatitis 378
Hepatitis A 378
Hepatitis B 378
Chronic hepatitis B 378
Prevention 379
Hepatitis C 379
Hepatitis D virus 379
Hepatitis E virus 379
Seronegative (non-A to G) hepatitis 380
Epstein–Barr virus 380
Acute liver failure (fulminant hepatitis) 380
Diagnosis 380
Management 380
Liver disease in older children 380
Autoimmune hepatitis and sclerosing cholangitis 380
Cystic fibrosis 381
Wilson disease 381
Fibropolycystic liver disease (ciliopathies) 381
Non-alcoholic fatty liver disease 381
Complications of chronic liver disease 382
Nutrition 382
Fat-soluble vitamins 382
Pruritus 382
Encephalopathy 382
Cirrhosis and portal hypertension 382
Oesophageal varices 383
Ascites 383
Spontaneous bacterial peritonitis 383
Renal failure 384
Liver transplantation 384
Acknowledgements 384
Further reading 384
22 Malignant disease 385
Aetiology 386
Clinical presentation 386
Investigations 386
Radiology 386
Tumour marker studies 387
Pathology 387
Management 387
Teenagers and young adults 387
Treatment 387
Chemotherapy 387
High-dose therapy with stem cell rescue 387
Targeted therapies 387
Radiotherapy 387
Surgery 388
Supportive care and side-effects of treatment 388
Infection from immunosuppression 388
Bone marrow suppression 388
Gastrointestinal damage, nausea and vomiting, and nutritional compromise 388
Drug-specific side-effects 388
Other supportive care issues 389
Fertility preservation 389
Venous access 389
Psychosocial support 389
Leukaemia 390
Clinical presentation 390
Investigations 390
Management of acute lymphoblastic leukaemia 390
Remission induction 390
Intensification 391
Central nervous system 391
Continuing therapy 391
Treatment of relapse 391
Brain tumours 391
Clinical features 392
Investigations 392
23 Haematological disorders 401
Haemoglobin production in the fetus and newborn 401
Haematological values at birth and the first few weeks of life 402
Anaemia 402
Anaemia due to impaired red cell production 403
Diagnosis of ineffective erythropoiesis 403
Iron deficiency 403
Clinical features 404
Diagnosis 405
Management 405
Treatment of iron deficiency with normal Hb 405
Red cell aplasia 405
Increased red cell destruction (haemolytic anaemia) 406
Hereditary spherocytosis 406
Clinical features 406
24 Child and adolescent mental health 424
How to ask about emotional and behavioural problems 424
How mental health problems evolve in childhood 425
Biological/developmental factors 425
Psychological factors 425
Self-esteem 425
Cognitive style 426
Social factors 426
Early relationships and attachment 426
Adversities in the family 427
Adversities outside the family 427
Resilience 427
Putting it together: the biopsychosocial formulation 427
Specific paediatric mental health problems 428
Problems of the preschool years 428
Meal refusal 428
Sleep-related problems 429
Difficulty in settling to sleep at bedtime 429
Waking at night 429
Nightmares 429
Night (sleep) terrors 429
Disobedience, defiance, and tantrums 430
Aggressive behaviour 431
Autism spectrum disorder and attention deficit hyperactivity disorder 431
Problems of middle childhood 431
Nocturnal enuresis 431
Explanation 431
Star chart 431
Enuresis alarm 431
Desmopressin 432
Self-help groups 432
Faecal soiling 432
Recurrent unexplained somatic symptoms/somatisation 432
Tics 433
Antisocial behaviour 433
Anxiety 434
School refusal 434
Educational underachievement 435
Problems of adolescence 435
Cognitive style 435
Anorexia nervosa and other eating disorders 435
Management 436
Medical aspects 436
Prognosis 436
Chronic fatigue syndrome 437
Depression 437
Deliberate self-harm 438
How to ask about self-harm 438
Drug misuse 438
Psychosis 439
Management of emotional and behavioural problems 439
Cultural considerations 439
Treatment 439
Acknowledgements 441
Further reading 441
Websites (Accessed November 2016) 441
25 Dermatological disorders 442
The newborn 442
Bullous impetigo 442
Melanocytic naevi (moles) 442
Albinism 444
Epidermolysis bullosa 444
Collodion baby 444
Rashes of infancy 444
Nappy rashes 444
Infantile seborrhoeic dermatitis 445
Atopic eczema (atopic dermatitis) 445
Diagnosis 445
Clinical features 446
Complications 446
Management 446
Avoiding irritants and precipitants 446
Emollients 446
Topical corticosteroids 446
Immunomodulators 446
Occlusive bandages 447
Antibiotics, antiviral agents, and antihistamines 447
Dietary elimination 447
Psychosocial support 447
Infections and infestations 448
Viral infections 448
Viral warts 448
Molluscum contagiosum 448
Fungal infections 448
Ringworm 448
Parasitic infestations 449
Scabies 449
Complications 449
Treatment 449
Pediculosis 449
Other childhood skin disorders 450
Psoriasis 450
Pityriasis rosea 450
Alopecia areata 450
Granuloma annulare 450
Acne vulgaris 451
Rashes and systemic disease 451
Urticaria 452
Acknowledgements 452
Further reading 452
Website (Accessed November 2016) 452
26 Diabetes and endocrinology 453
Diabetes mellitus 453
Aetiology of type 1 diabetes 454
Clinical features 454
Diagnosis 455
Initial management of type 1 diabetes 455
Insulin 455
Diet 456
Blood glucose monitoring 457
Acute complications 458
Hypoglycaemia 458
Diabetic ketoacidosis 459
Long-term management 459
Problems in diabetes control 459
Management at school 459
Puberty and adolescence 461
Hypoglycaemia 462
Causes 463
Treatment 463
Thyroid disorders 464
Congenital hypothyroidism 464
Acquired hypothyroidism 465
Hyperthyroidism 465
Parathyroid disorders 466
Pituitary disorders 466
Adrenal disorders 466
Congenital adrenal hyperplasia 466
Diagnosis 467
Management 468
Primary adrenal insufficiency (Addison disease) 468
Presentation 468
Diagnosis 469
Management 469
Cushing syndrome 469
Disorders of sex development 469
Acknowledgements 470
Further reading 471
Websites (Accessed November 2016) 471
27 Inborn errors of metabolism 472
Overview 472
Classification 472
Frequency 472
Presentation 472
Genetics 473
Investigations 473
Management 474
Newborn screening 474
Metabolic disease and acid-base disturbance 475
The anion gap 475
Hyperammonaemia 476
Hypoglycaemia 476
Glycogen storage disorders 476
Lysosomal storage disorders 477
Mucopolysaccharidoses (MPS) 477
Mitochondrial disease 477
Lipid storage disorders 477
Disorders of lipid metabolism 479
Acknowledgements 481
Further reading 481
Websites (Accessed December 2016) 481
28 Musculoskeletal disorders 482
Assessment of the musculoskeletal system 482
Variations of normal posture 482
Bow legs (genu varum) 482
Knock-knees (genu valgum) 482
Flat feet (pes planus) 482
In-toeing 482
Toe walking 483
Abnormal posture 484
Talipes equinovarus (clubfoot) 484
Vertical talus 484
Talipes calcaneovalgus 485
Tarsal coalition 485
Pes cavus 485
Developmental dysplasia of the hip (DDH) 485
Scoliosis 485
Torticollis 485
The painful limb, knee, and back 486
Growing pains 486
Hypermobility 486
Complex regional pain syndromes 486
Acute-onset limb pain 487
Osteomyelitis 487
Presentation 487
Investigation 487
Treatment 487
Malignant disease 487
Bone tumours 487
The painful knee 488
Osgood–Schlatter disease 488
Chondromalacia patellae 488
Osteochondritis dissecans (segmental avascular necrosis of the subchondral bone) 489
Subluxation and dislocation of the patella 489
Injuries 489
Back pain 489
Limp 489
Transient synovitis (‘irritable hip’) 489
Perthes disease 489
Slipped capital femoral epiphysis 491
Arthritis 491
Reactive arthritis 491
Septic arthritis 492
Presentation 492
Investigation 492
Juvenile idiopathic arthritis (JIA) 493
Complications 493
Chronic anterior uveitis 493
Flexion contractures of the joints 493
Growth failure 493
Constitutional problems 495
Osteoporosis 495
Amyloidosis 495
Management 495
Prognosis 496
Henoch–Schönlein purpura 496
Systemic lupus erythematosus (SLE) 496
Juvenile dermatomyositis 496
Genetic skeletal conditions 497
Achondroplasia 497
Thanatophoric dysplasia 497
Cleidocranial dysostosis 498
Arthrogryposis 498
Osteogenesis imperfecta (brittle bone disease) 498
Osteopetrosis (marble bone disease) 498
Marfan syndrome 499
Acknowledgements 499
Further reading 499
Websites (Accessed December 2016) 499
29 Neurological disorders 500
Headache 500
Primary headaches 500
Tension-type headache 500
Migraine 500
Migraine without aura 500
Migraine with aura 501
Uncommon forms of migraine 501
Secondary headaches 502
Raised intracranial pressure and space-occupying lesions 502
Medication overuse headache 503
Other causes 503
Management 503
Rescue treatments 503
Prophylactic treatments 503
Psychosocial support 503
Seizures 503
Epileptic seizures 503
Convulsions 503
Epilepsies 503
Acute symptomatic epileptic seizures 503
Febrile seizures 503
Paroxysmal disorders 504
Epilepsies of childhood 506
Diagnosis 506
Investigation 506
ECG 506
EEG (electroencephalogram) 506
Brain imaging 507
Other investigations 507
Management 509
Antiepileptic drug therapy 509
Other treatment options 510
Advice and prognosis 510
Status epilepticus 510
Motor disorders 510
Central motor disorders 511
Cerebral palsy 511
Peripheral motor disorders: the neuromuscular disorders 511
Investigations 512
Disorders of the anterior horn cell 512
Spinal muscular atrophy 512
Spinal muscular atrophy type 1 (Werdnig–Hoffmann disease) 513
Peripheral neuropathies 513
Charcot–Marie–Tooth disease (the hereditary motor sensory neuropathies) 513
Guillain–Barré syndrome (acute post-infectious polyneuropathy) 513
Bell palsy and facial nerve palsies 513
Disorders of neuromuscular transmission 514
Myasthenia gravis 514
Juvenile myasthenia 514
Congenital myasthenic syndromes 514
Muscle disorders 514
The muscular dystrophies 514
Duchenne muscular dystrophy 514
Management 515
Becker muscular dystrophy 515
Limb girdle muscular dystrophies 515
Congenital muscular dystrophies 515
Congenital myopathies 515
Metabolic myopathies 515
The inflammatory myopathies 515
Benign acute myositis 515
Dermatomyositis 516
Myotonic disorders 516
Dystrophia myotonica type I 516
The hypotonic or ‘floppy” infant 516
Ataxia 517
Friedreich ataxia 517
Ataxia telangiectasia 517
Other hereditary cerebellar ataxias 517
Cerebrovascular disease 517
Intracranial haemorrhage 517
Extradural haemorrhage 517
Subdural haematoma 517
Subarachnoid haemorrhage 518
Stroke 518
Microcephaly and macrocephaly 518
Neural tube defects and hydrocephalus 518
Neural tube defects 518
Anencephaly 518
Encephalocele 519
Spina bifida occulta 519
Meningocele and myelomeningocele 519
Management 520
Hydrocephalus 520
Clinical features 520
The neurocutaneous syndromes 521
Neurofibromatosis 521
Tuberous sclerosis 521
Sturge–Weber syndrome 522
Neurodegenerative disorders 522
Adrenoleukodystrophy 523
Acknowledgements 524
Further reading 524
Websites (Accessed November 2016) 524
Systematic reviews 524
30 Adolescent medicine 525
Communicating with adolescents 525
Consent and confidentiality 527
Consent 527
Confidentiality 527
Range of health problems 528
Mortality 528
Impact of chronic conditions 529
Adherence 529
Fatigue, headache, and other somatic symptoms 530
Mental health problems 531
Health-risk behaviour 531
Sexual health 531
Management of sexually transmitted infections 531
Contraception 532
Emergency contraception 532
Teenage parenthood 532
Health promotion 532
Transition to adult services 533
Acknowledgements 533
Further reading 534
Websites (Accessed November 2016) 534
31 Global child health 535
Child mortality 535
Where deaths occur 535
Determining child mortality rates and health outcomes in different countries 535
Why is child mortality so high? 536
Reducing child mortality 537
Improving neonatal survival 538
Maternal health and obstetric care 539
Saving newborn lives 539
Improving the survival of children 540
Infection 540
Nutrition 540
Trauma and road traffic injuries 540
Mental health 540
Coexisting multiple pathologies: a major threat to child survival 540
Children affected by conflict 542
Future developments 542
Sustainable development goals 542
Acknowledgements 543
Further reading 543
Websites (Accessed November 2016) 543
Appendix 544
Growth charts 544
Gestational age assessment of newborn infants 555
Management action plan for asthma 556
Blood pressure chart 557
Peak flow chart 557
Imaging in children 557
Blood tests 558
Taking blood from children 558
Index 560
A 560
B 562
C 563
D 565
E 566
F 568
G 568
H 569
I 571
J 572
K 572
L 573
M 573
N 575
O 576
P 576
Q 578
R 578
S 579
T 581
U 582
V 582
W 583
X 583
Y 583
Z 583