دانلود کتاب Illustrated Textbook of Paediatrics

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Cover
Illustrated Textbook of Paediatrics
Copyright
Contents
Foreword by Dr Ranj Singh
Foreword by Professor Sir Alan Craft
Why paediatrics is such a great speciality
Quotes from Dr Ranj Singh
Quotes from Professor Sir Alan Craft
Preface
List of Contributors
1. Paediatrics and child health
The child and young person’s world
The child’s immediate social environment
Family structure
Parenting styles
Siblings and extended family
Cultural attitudes to child-rearing
Peers
Socio-economic status
Local social fabric
Neighbourhood
Health services
Schools
Travel
Air quality
National and international environment
Economic wealth
Media and technology
War and natural disasters
Wellbeing
Major issues in child health in the UK and high-income countries
Child mortality
Comparison with other European countries
Inequalities in child heath
COVID-19 pandemic
Child protection (safeguarding)
Obesity
Emotional and behavioural difficulties
Disability
Smoking, alcohol and drugs
Conclusion
Acknowledgements
Further reading
Websites
2. History and examination
Taking a history
Introduction
Involving children and young people
Presenting symptom
Focus the history
General enquiry and systems review
Past medical history
Medication
Family history
Social history
Development
An approach to examining children or young people
Warm, clean hands
Obtaining the child’s cooperation
Undressing children and young people
Developmental skills of young children
Examination
Initial observations – watch before you examine
Severity of illness
Measurements
Conducting the examination
Peripheral examination
Respiratory rate and increased work (effort) of breathing
Chest appearance
Chest palpation
Percussion and auscultation
Peripheral examination
Pulses
Chest inspection
Palpation
Auscultation
General appearance
Respiratory system
Cardiovascular system
Gastrointestinal system
Peripheral examination
Abdominal inspection
Auscultation
Genital area
Neurology examination
Detailed neurological examination
Observation of the face and limbs
Tone
Limbs
Trunk
Limb power
Coordination
Reflexes
Plantar responses
Sensation
Spine
Patterns of movement – gait
Cranial nerve examination (Table 2.13)
Musculoskeletal examination
Head and neck examination
Communicating with children and young people
Investigations
Blood pressure
Measurement
Peak flow or lung function tests
Urinalysis
Transcutaneous bilirubin
Summary and management plan
Acknowledgements
Further Reading
3. Normal child development, hearing and vision
Influence of nature and nurture on development
Developmental domains
Developmental milestones
Median and red flag ages
Variation in the pattern of development
Adjusting for prematurity
Assessing if development is normal
Pattern of child development
Cognitive development
Checking developmental progress
A focused approach to developmental assessment
Observation during questioning
Equipment for developmental testing
Formal developmental screening and assessment
Child health surveillance
Hearing
Neonatal hearing screening
Behavioural hearing tests in children
Visual reinforced audiometry
Pure tone audiometry (a performance test)
Bone conduction testing
Middle ear testing
Audiology referral
Vision
Vision screening
Vision testing
Acknowledgements
Further reading
Websites
4. Developmental problems and the child with special needs
Definitions
The approach to a child with developmental problems and special needs
Developmental assessment
Physical examination
Investigations
Management
Abnormal motor development
Cerebral palsy (CP)
Causes
Presentation
Examination
Types of cerebral palsy
Spastic cerebral palsy
Dyskinetic cerebral palsy
Ataxic (hypotonic) cerebral palsy
Mixed cerebral palsy
Management
Prognosis
Speech, language and communication needs
Speech and language delay
Developmental language disorder
Autism spectrum disorders
Management
Learning disability
Specific learning difficulties
Developmental coordination disorder
Problems with concentration and attention
Attention deficit hyperactivity disorder (ADHD)
Hearing impairment
Sensorineural hearing loss
Conductive hearing loss
Visual impairment
Nystagmus
Squint (strabismus)
Corneal light reflex test
Cover test
Refractive errors
Hypermetropia (long sightedness)
Myopia (short sightedness)
Astigmatism (abnormal corneal curvature in two planes)
Amblyopia
Severe visual impairment
Multidisciplinary approach – child development services
Education
The biopsychosocial model of disability, disability rights and advocacy
Transition
Acknowledgements
Further reading
5. Care of the ill child and young person
Medical care
Urgent and emergency care
Hospital admission rates
Children in hospital
Subspecialist care and networks
Discharge from hospital
Pain in children
Acute pain
Chronic pain
Management
Recognition of pain
Responding to pain
Reassessment
Prescribing medicines for children
Absorption
Biology
Clearance
Distribution
Prescribing errors
Avoiding errors
Communicating serious problems
Palliative and end-of-life care
Care plan
End-of-life care
Caring for staff
Ethics
Consent
Best interests
Evidence-based practice
To what extent is paediatric practice based on sound evidence?
Research
Practical difficulties in conducting research in children and young people
Why is research so important?
Acknowledgements
Websites
6. Paediatric emergencies
The seriously ill child
Resuscitation – Basic and Advanced Paediatric Life Support
Airway obstruction
Breathing – respiratory failure
Assessment
Supportive therapy
Supplementary oxygen
Respiratory support
Circulatory failure – shock
Clinical features
Dehydration
Fluid resuscitation
Fluid management
Disability – disordered consciousness
Sepsis
Clinical features
Management priorities
Antibiotics
Fluids
Circulatory support
Disseminated intravascular coagulation
Status epilepticus
Anaphylaxis
Brief resolved unexplained events (BRUE)
Sudden unexpected death in infancy
Acknowledgements
Further reading
Websites
7. Accidents and poisoning
Accidents
Accident prevention
The seriously injured child
Head and neck injuries
Management
Internal injuries
Choking, suffocation and strangulation
Drowning
Burns and scalds
Burn first aid
Estimation of burn surface area
Burn depth assessment
Major burns
Further management
Burns that require specialist burns service review
Poisoning
Investigation and management
Chronic environmental poisoning
Acknowledgements
Further reading
Websites
8. Maltreatment of children and young people
Adverse effects of maltreatment
Effects of multiple ACEs across the life course
Resilience
Types of maltreatment
Physical abuse
Emotional abuse
Sexual abuse and sexual exploitation
Neglect
Fabricated or induced illness
Intimate partner violence
Bullying
Other forms
Prevalence
Safeguarding
Risk factors
Presentation
Physical abuse
Neglect
Emotional abuse
Sexual abuse
Recognition
Physical symptoms
Behavioural symptoms
Signs
Investigation
Management
Acknowledgements
Further reading
9. Genetics
Chromosomal abnormalities
Disorders of chromosome number
Down syndrome (trisomy 21)
Clinical features
Cytogenetics
Meiotic nondisjunction (94%)
Translocation (5%)
Mosaicism (1%)
Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13)
Turner syndrome
Klinefelter syndrome (47, XXY)
Disorders of chromosome structure
Deletions
Duplications
Translocations
Patterns of inheritance
Mendelian inheritance
Autosomal dominant inheritance
Homozygosity
Variation in expression
Non-penetrance
De novo mutation
Knudson two-hit hypothesis
Autosomal recessive inheritance
Consanguinity
X-linked inheritance
Y-linked inheritance
Unusual genetic mechanisms
Trinucleotide repeat expansion mutations
Fragile X syndrome
Mitochondrial or cytoplasmic inheritance
Imprinting and uniparental disomy
Multifactorial and polygenic inheritance
Epigenetic factors
Dysmorphology
Pathogenic mechanisms
Malformation
Deformation
Disruption
Dysplasia
Clinical classification of birth defects
Single-system defects
Sequence
Association
Syndrome
Syndrome diagnosis
Rare diseases
Genetic investigations
Cytogenetic analysis
Next-generation sequencing
Genetic services
Genetic counselling
Presymptomatic (predictive) testing
Gene-based therapies
Acknowledgements
Further reading
Websites
Online resources
10. Perinatal medicine
Pre-pregnancy care
Antenatal diagnosis
Fetal medicine
Fetal surgery
Obstetric conditions affecting the fetus
Pre-eclampsia
Placental insufficiency and intrauterine growth restriction (IUGR)
Preterm delivery
Multiple births
Maternal conditions affecting the fetus
Diabetes mellitus
Maternal thyroid disease
Maternal hyperthyroidism
Maternal hypothyroidism
Systemic lupus erythematosus
Immune thrombocytopenia
Maternal drugs affecting the fetus
Alcohol and smoking
Substance misuse
Congenital infections
Rubella
Cytomegalovirus
Toxoplasmosis
Congenital parvovirus B19
Varicella zoster
Syphilis
Adaptation to extrauterine life
Delivery
Apgar score
Neonatal resuscitation
Meconium aspiration
Stabilization of the preterm infant
Post-resuscitation care
Failure to respond to resuscitation
Size at birth
Definitions
Patterns of growth restriction
Monitoring the growth-restricted fetus
The growth-restricted infant
Large-for-gestational-age infants
Newborn infant physical examination (NIPE)
Red reflex to identify eye abnormalities
Detection of undescended testes in boys
Checking for developmental dysplasia of the hip (DDH)
Vitamin K
Newborn hearing screening
Oxygen saturation screening for critical congenital heart disease
Newborn blood spot screening
Acknowledgements
Further Reading
11. Neonatal medicine
Admission to a neonatal unit
Stabilizing the preterm or sick infant
The preterm infant
Respiratory distress syndrome
Pneumothorax
Apnoea and bradycardia and desaturation
Temperature control
Patent ductus arteriosus
Fluid balance
Nutrition
Infection
Necrotizing enterocolitis
Preterm brain injury
Retinopathy of prematurity
Bronchopulmonary dysplasia
Problems following discharge
Jaundice
Kernicterus
Clinical evaluation
Age at onset
Jaundice <24 hours of age
Haemolytic disorders
Rh (rhesus) haemolytic disease
ABO incompatibility
G6PD (glucose-6-phosphate dehydrogenase) deficiency (see Ch. 23, Haematological disorders)
Spherocytosis
Congenital infection
Jaundice at 2 days–2 weeks of age
Physiological jaundice
Breast milk jaundice
Dehydration
Infection
Other causes
Severity of jaundice
Rate of change
Gestation
Clinical condition
Management
Phototherapy
Exchange transfusion
Jaundice at >2 weeks of age
Respiratory distress in term infants
Transient tachypnoea of the newborn
Meconium aspiration
Pneumonia
Pneumothorax
Milk aspiration
Persistent pulmonary hypertension of the newborn
Diaphragmatic hernia
Other causes
Infection
Early-onset infection
Late-onset infection
Some specific infections
Group B streptococcal (GBS) infection
L. monocytogenes infection
Gram-negative infections
Conjunctivitis
Umbilical infection
Herpes simplex virus infections
Hepatitis B
Hypoglycaemia
Hypoxic–ischaemic encephalopathy
Management
Prognosis
Birth injuries
Soft-tissue injuries
Nerve palsies
Fractures
Clavicle
Humerus/femur
Neonatal seizures
Perinatal stroke
Craniofacial disorders
Cleft lip and palate
Pierre Robin sequence
Gastrointestinal disorders
Oesophageal atresia
Small bowel obstruction
Large bowel obstruction
Exomphalos and gastroschisis
Safeguarding and the newborn
Acknowledgements
Further reading
Websites
12. Growth and puberty
Normal growth
Fetal
Infantile phase
Childhood phase
Pubertal growth spurt
Measurement
Growth charts
Mid-parental centile (MPC)
Correction for gestational age
Puberty
Short stature
Familial
Constitutional delay of growth and puberty
Genetic disorders
Nutrition
General health
Endocrine
Investigations for short stature
Tall stature
Genetic
Nutrition
Endocrine
Abnormal head growth
Microcephaly
Macrocephaly
Asymmetric heads
Craniosynostosis
Early puberty
Premature breast development (thelarche)
Adrenarche
Precocious puberty (PP)
Girls
Boys
Management
Delayed puberty
Boys
Girls
Acknowledgements
Further reading
Websites
13. Nutrition
The nutritional vulnerability of infants and children
High nutritional requirements
Low nutritional stores
Rapid brain growth and development
Illness or surgery
Long-term outcome of early nutritional deficiency
Linear growth of populations
Disease in adult life
Infant feeding
Breastfeeding
Advantages
Physiology
Perceived barriers and potential complications of breastfeeding
Promotion of breastfeeding
Formula feeding
Introduction of whole, pasteurized cow’s milk as main drink
Specialized infant formula
Weaning
Additional nutritional support
Enteral nutrition
Parenteral nutrition (PN)
Faltering growth
Identifying weight faltering
Clinical features and investigation
Management
Vitamin D deficiency
Rickets
Aetiology
Clinical manifestations
Diagnosis
Management
Other vitamin deficiencies
Malnutrition
Assessment of nutritional status
Anthropometry
Other methods to assess nutritional status
Consequences of malnutrition
Severe malnutrition
Management
Stunting
Obesity
Definitions
Aetiology
Prevention
Endogenous causes
Management
Drug treatment and surgery
Early childhood caries
Aetiology of dental caries
Prevention of childhood caries
Acknowledgements
Further reading
14. Gastroenterology
Acute abdominal pain
Acute appendicitis
Non-specific acute abdominal pain and mesenteric adenitis
Intussusception
Meckel diverticulum
Malrotation and volvulus
Recurrent abdominal pain
Irritable bowel syndrome (IBS)
Pathogenesis
Abdominal migraine
Functional dyspepsia
Management
Peptic ulcer disease
Vomiting
Gastro-oesophageal reflux
Investigation
Management
Pyloric stenosis
Diagnosis
Management
Eosinophilic oesophagitis
Gastroenteritis
Assessment
Isonatraemic and hyponatraemic dehydration
Hypernatraemic dehydration
Investigation
Management
Oral rehydration therapy
Hypernatraemic dehydration
Antidiarrhoeal drugs (e.g. loperamide, Lomotil) and antiemetics
Antibiotics
Outcome
Postgastroenteritis syndrome
Malabsorption
Coeliac disease
Diagnosis
Management
Food allergy
Lactose intolerance
Other causes of nutrient malabsorption
Chronic non-specific diarrhoea
Inflammatory bowel disease
Crohn disease
Ulcerative colitis
Constipation
Management
Hirschsprung disease
Acknowledgements
Further reading
15. Infection and immunity
The febrile child
Clinical features
(i) How is fever identified in children?
(ii) How old is the child?
(iii) Are there risk factors for infection?
(iv) How ill is the child?
(v) Is there a rash?
(vi) Is there a focus for infection?
Management
Serious life-threatening infections
Sepsis
Meningitis
Bacterial meningitis
Pathophysiology
Organisms
Presentation
Investigations
Management
Cerebral complications
Prophylaxis
Partially treated bacterial meningitis
Viral meningitis
Uncommon pathogens and other causes
Neonatal meningitis
Encephalitis/encephalopathy
Toxic shock syndrome
Necrotizing fasciitis/cellulitis
Specific bacterial infections
Meningococcal infection
Pneumococcal infections
H. influenzae infection
Staphylococcal and group A streptococcal infections
Scarlet fever
Impetigo
Boils
Periorbital cellulitis
Staphylococcal scalded skin syndrome
Antimicrobial resistance
Common viral infections
The human herpesviruses
Herpes simplex virus infections
Asymptomatic
Gingivostomatitis
Skin manifestations
Eye disease
Disseminated infection
Chickenpox (primary varicella zoster infection)
Clinical features
Treatment and prevention
Shingles (herpes zoster)
Epstein–Barr virus: infectious mononucleosis (glandular fever)
Cytomegalovirus
Human herpesvirus 6 and human herpesvirus 7
Human parvovirus B19
Enteroviruses
Hand, foot, and mouth disease
Herpangina
Meningitis/encephalitis
Pleurodynia (Bornholm disease)
Myocarditis and pericarditis
Eczema coxsackium
Enteroviral neonatal sepsis syndrome
Enterovirus D68
Seasonal viral infections
Influenza
COVID-19
Uncommon viral infections
Measles
Clinical features
Treatment
Prevention
Mumps
Clinical features
Viral meningitis and encephalitis
Orchitis
Rubella (German measles)
Prolonged fever
Kawasaki disease
Paediatric multisystem inflammatory syndrome
Tuberculosis
Clinical features
Diagnosis
Treatment
Prevention and contact tracing
Non-tuberculous mycobacterial infections
Tropical infections
HIV infection
Diagnosis
Clinical features
Treatment
Reduction of vertical transmission
Lyme disease
Clinical features
Diagnosis
Treatment
Immunization
Rationale behind the current immunization programme
Global immunization programme
Contraindications
Vaccine confidence
Immunodeficiency
Primary immunodeficiencies
Investigation
Management
Acknowledgements
Further reading
Websites
16. Allergy
Mechanisms of allergic disease
The hygiene hypothesis
Clinical evaluation
History and examination
Investigations
Skin prick tests
IgE blood tests
Spirometry and other lung function tests
Allergen challenge
Organization of care
Age of onset of allergic conditions
Prevention of allergic diseases
Food allergy and food intolerance
Clinical features
Diagnosis
Management
Eczema
Allergic rhinitis and conjunctivitis (rhinoconjunctivitis)
Asthma
Urticaria and angioedema
Drug allergy
Vaccines
Insect sting hypersensitivity
Anaphylaxis
Acknowledgements
Further reading
Websites
17. Respiratory disorders
Upper respiratory tract infections
The common cold (coryza)
Sore throat (pharyngitis and tonsillitis)
Acute otitis media
Sinusitis
Upper airways obstruction
Croup
Bacterial tracheitis and acute epiglottitis
Other causes of stridor
Lower respiratory tract infections
Bronchiolitis
Investigations and decision to admit
Management
Prevention of bronchiolitis
Pneumonia
Clinical features and investigations
Management
Prognosis and follow-up
Whooping cough (pertussis)
Asthma
Pathophysiology of asthma
Clinical features
The preschool child
Viral episodic wheeze
Multiple trigger wheeze and asthma
Investigations
Differential diagnosis
Management of asthma
Bronchodilator therapy
Preventer therapy
Inhaled corticosteroids (ICS)
Add-on therapy
MART therapy
Additional therapies for children and young people with severe asthma
Escalating and de-escalating treatment
Allergen avoidance and other nonpharmacological measures
Acute asthma
Assessment
Criteria for admission to hospital
Management
Patient education
Cough
Chronic cough
Protracted bacterial bronchitis (PBB)
Less common causes of chronic cough
Bronchiectasis
Cystic fibrosis (CF)
Pathophysiology
Newborn screening
Diagnosis
Clinical features
Respiratory
Gastrointestinal
Other complications
Management
Respiratory management
Nutritional management
CFTR modulators
Primary ciliary dyskinesia (PCD)
Immunodeficiency
Sleep-disordered breathing
Respiratory care in children with complex needs
Tracheostomy
Long-term ventilation
Acknowledgements
Further reading
18. Cardiac disorders
Epidemiology
Aetiology
Circulatory changes at birth
Presentation
Antenatal diagnosis
Heart murmurs
Heart failure
Symptoms
Signs
Cyanosis
Diagnosis
Nomenclature
Left-to-right shunts
Atrial septal defect
Clinical features
Symptoms
Physical signs
Investigations
Chest radiograph
ECG
Echocardiography
Management
Ventricular septal defects
Small VSDs
Clinical features
Symptoms
Physical signs
Investigations
Chest radiograph
ECG
Echocardiography
Management
Large VSDs
Clinical features
Symptoms
Physical signs (Fig. 18.5b)
Investigations
Chest radiograph (Fig. 18.5c)
ECG (Fig. 18.5d)
Echocardiography
Management
Persistent ductus arteriosus (persistent arterial duct)
Clinical features
Investigations
Management
Right-to-left shunts
Hyperoxia (nitrogen washout) test
Management of the cyanosed neonate
Tetralogy of Fallot
Clinical features
Symptoms
Signs
Investigations
Chest radiograph (Fig. 18.8c)
ECG (Fig. 18.8d)
Echocardiography
Management
Transposition of the great arteries
Clinical features
Symptoms
Physical signs (Fig. 18.9b)
Investigations
Chest radiograph (Fig. 18.9c)
ECG (Fig. 18.9d)
Echocardiography
Management
Eisenmenger syndrome
Common mixing (blue and breathless)
Atrioventricular septal defect (complete)
Complex congenital heart disease
Tricuspid atresia
Clinical features
Management
Outflow obstruction in the well child
Aortic stenosis
Clinical features
Physical signs (Fig. 18.13b)
Investigations
Chest radiograph (Fig. 18.13c)
ECG (Fig. 18.13d)
Management
Pulmonary stenosis
Clinical features
Physical signs (Fig. 18.14b)
Investigations
Chest radiograph (Fig. 18.14c)
ECG (Fig. 18.14d)
Management
Adult-type coarctation of the aorta
Clinical features (Fig. 18.15b)
Investigations
Chest radiograph (Fig. 18.15c)
ECG
Management
Outflow obstruction in the sick infant
Coarctation of the aorta
Clinical features
Physical signs
Investigations
Chest radiograph
ECG
Management
Interruption of the aortic arch
Hypoplastic left heart syndrome
Clinical features
Management
Care following cardiac surgery
Cardiac arrhythmias
Supraventricular tachycardia
Investigation
Management
Congenital complete heart block
Other arrhythmias
Syncope
Chest pains
Rheumatic fever
Clinical features
Rheumatic heart disease
Management
Infective endocarditis
Clinical signs
Diagnosis
Prophylaxis
Myocarditis/cardiomyopathy
Kawasaki disease
Paediatric inflammatory multisystem syndrome temporarily associated with COVID-19 (PIMS-TS)
Pulmonary hypertension
Acknowledgements
Further reading
Website
19. Kidney and urinary tract disorders
Assessment of renal function
Radiological investigations
Congenital anomalies
Anomalies detectable on antenatal ultrasound screening
Urinary tract obstruction
Postnatal management
Vesicoureteric reflux
Urinary tract infection (UTI)
Clinical features
Collection of samples
Bacterial and host factors that predispose to infection
Infecting organism
Host factors
Investigation
Management
Medical measures for the prevention of UTI
Follow-up of children with recurrent UTIs, renal scarring, or reflux
Enuresis
Primary nocturnal enuresis
Daytime enuresis
Secondary (onset) nocturnal enuresis
Proteinuria
Nephrotic syndrome
Steroid-sensitive nephrotic syndrome
Management
Prognosis
Steroid-resistant nephrotic syndrome
Congenital nephrotic syndrome
Haematuria
Acute glomerulonephritis
Poststreptococcal and postinfectious glomerulonephritis
Henoch–Schönlein purpura
Clinical findings
IgA nephropathy
Genetic abnormalities of glomerular basement membrane
Vasculitis
Systemic lupus erythematosus (SLE)
Hypertension
Renal masses
Renal calculi
Renal tubular disorders
Fanconi syndrome (generalized proximal tubular dysfunction)
Specific transport defects
Acute kidney injury
Management
Prerenal failure
Renal failure
Postrenal failure
Renal replacement therapy
Haemolytic uraemic syndrome
Chronic kidney disease
Clinical features
Management
Nutrition
Prevention of renal osteodystrophy
Control of salt and water balance and acidosis
Anaemia
Hormonal abnormalities
Dialysis and transplantation
Acknowledgements
Further reading
Websites
20. Genital disorders
Inguinoscrotal conditions
Embryology
Inguinal hernia
Hydrocele
Varicocele
Undescended testis
Investigations and management
Testicular pain (‘the acute scrotum’)
Torsion of the testis
Torsion of appendix testis
Other acute inguinoscrotal conditions
Abnormalities of the penis
The foreskin
Non-retractile foreskin and phimosis
Paraphimosis
Circumcision
Hypospadias
Management
‘Buried’ penis
Genital disorders in girls
Normal anatomy
Vulvovaginitis / vaginal discharge
Labial adhesions
Acknowledgements
Further reading
21. Liver disorders
Neonatal cholestasis
Biliary atresia
Investigations
Treatment
Choledochal cysts
Neonatal hepatitis syndrome
Alagille syndrome
Progressive familial intrahepatic cholestasis
Neonatal metabolic liver disease
α1-Antitrypsin deficiency
Galactosaemia
Other causes
Viral hepatitis
Hepatitis A
Hepatitis B
Chronic hepatitis B
Prevention
Hepatitis C
Hepatitis D virus
Hepatitis E virus
Seronegative (non-A to G) hepatitis
Epstein–Barr virus
Acute liver failure (fulminant hepatitis)
Diagnosis
Management
Liver disease in older children
Autoimmune hepatitis and sclerosing cholangitis
Cystic fibrosis
Wilson disease
Fibropolycystic liver disease (ciliopathies)
Non-alcoholic fatty liver disease
Complications of chronic liver disease
Nutrition
Fat-soluble vitamins
Pruritus
Encephalopathy
Cirrhosis and portal hypertension
Oesophageal varices
Ascites
Spontaneous bacterial peritonitis
Renal failure
Liver transplantation
Acknowledgements
Further reading
Websites
22. Malignant disease
Aetiology
Clinical presentation
Investigations
Radiology
Tumour marker studies
Pathology
Management
Teenagers and young adults
Treatment
Chemotherapy
High-dose therapy with stem cell rescue
Targeted therapies and immunotherapy
Radiotherapy
Surgery
Supportive care and side-effects of disease and treatment
Infection from immunosuppression
Bone marrow suppression
Gastrointestinal damage, nausea and vomiting, and nutritional compromise
Drug-specific side-effects
Pain
Other supportive care issues
Fertility preservation
Venous access
Psychosocial support
Leukaemia
Clinical presentation
Investigations
Management of acute lymphoblastic leukaemia
Remission induction
Intensification
Central nervous system
Continuing therapy
Treatment of relapse
Brain tumours
Clinical features
Investigations
Management
Neurorehabilitation and late effects
Lymphomas
Hodgkin lymphoma
Clinical features
Investigations
Management
Non-Hodgkin lymphoma
Investigations
Management
Burkitt lymphoma
Neuroblastoma
Clinical features
Investigations
Management
Wilms tumour (nephroblastoma)
Clinical features
Investigations
Management
Soft tissue sarcomas
Clinical features
Investigations
Management
Bone tumours
Clinical features
Investigations
Management
Retinoblastoma
Clinical features
Investigations
Treatment
Kaposi sarcoma
Rare tumours
Liver tumours
Germ cell tumours
Langerhans cell histiocytosis
Long-term survivors
Palliative and end-of-life care
Acknowledgements
Further reading
Websites
23. Haematological disorders
Haematological values at birth and the first few weeks of life
Anaemia
Increased red cell destruction (haemolytic anaemia)
Hereditary spherocytosis
Clinical features
Diagnosis and management
Glucose-6-phosphate dehydrogenase deficiency
Clinical manifestations
Diagnosis and management
Haemoglobinopathies
Sickle cell disease
Pathogenesis of sickling
Clinical features
Management
Prognosis
Prenatal diagnosis and screening
Haemoglobin SC disease
Sickle cell trait
β-Thalassaemias
Clinical features (Fig. 23.13)
Management
Prenatal diagnosis
β-Thalassaemia trait
α-Thalassaemias
Anaemia in the newborn
Blood loss
Anaemia of prematurity
Bone marrow failure syndromes
Inherited aplastic anaemia
Fanconi anaemia
Shwachman–Diamond syndrome
Diagnostic approach
Bleeding disorders
Normal haemostasis
Haemophilia
Clinical features
Management
von Willebrand disease (vWD)
Clinical features
Management
Acquired disorders of coagulation
Thrombocytopenia
Immune thrombocytopenia (ITP)
Clinical features
Diagnosis
Management
Chronic ITP
Disseminated intravascular coagulation
Thrombosis in children
Diagnosis
Acknowledgements
Further reading
Websites
24. Child and adolescent mental health
How to ask about emotional and behavioural problems
How mental health problems evolve in childhood
Biological factors
Psychological factors
Self-esteem
Cognitive style
Social factors
Early relationships and attachment
Adverse life experiences in the family
Social disadvantage
Peer groups and social media
Resilience
Putting it together: the biopsychosocial formulation
Specific paediatric emotional, behavioural and mental health problems
Common problems of the preschool years
The crying baby
Causes
Management
Meal refusal
Sleep-related problems
Difficulty in settling to sleep at bedtime
Waking at night
Nightmares
Night (sleep) terrors
Disobedience, defiance, and tantrums
Aggressive behaviour
Autism spectrum disorder and attention deficit hyperactivity disorder
Problems of middle childhood
Nocturnal enuresis
Explanation
Star chart
Enuresis alarm
Desmopressin
Self-help groups
Faecal soiling
Persistent unexplained physical symptoms (PUS)
Mind/body link
Assessment and management
Tics
Antisocial behaviour
Anxiety
School refusal
Educational underachievement
Problems of adolescence
Cognitive style
Anorexia nervosa and other eating disorders
Features of eating disorders
Other types of eating disorder
Causes of eating disorders
How do eating disorders present?
Physical risks
Management
Prognosis
Depression
Deliberate self-harm
How to ask about self-harm
Drug misuse
Psychosis
Management of emotional and behavioural problems
Cultural considerations
Management
Coaching parents
Other treatment interventions
Acknowledgements
Further reading
25. Dermatological disorders
The newborn
Sebaceous gland hyperplasia
Miliaria
Bullous impetigo
Melanocytic naevi (moles)
Albinism
Epidermolysis bullosa
Collodion baby
Rashes of infancy
Nappy rashes
Infantile seborrhoeic dermatitis
Atopic eczema (atopic dermatitis)
Diagnosis
Clinical features
Complications
Management
Avoiding irritants and precipitants
Emollients
Topical corticosteroids
Immunomodulators
Occlusive bandages
Antibiotics, antiviral agents, and antihistamines
Dietary elimination
Psychosocial support
Infections and infestations
Viral infections
Viral warts
Molluscum contagiosum
Fungal infections
Ringworm
Parasitic infestations
Scabies
Complications
Treatment
Pediculosis
Other childhood skin disorders
Psoriasis
Pityriasis rosea
Alopecia areata
Granuloma annulare
Acne vulgaris
Rashes and systemic disease
Urticaria
Acknowledgements
Further reading
Website
26. Diabetes mellitus and endocrinology
Diabetes mellitus
Aetiology of type 1 diabetes
Clinical features
Diagnosis
Initial management of type 1 diabetes
Insulin
Diet
Blood glucose monitoring
Acute complications
Hypoglycaemia
Diabetic ketoacidosis
Long-term complications of diabetes
Challenges in diabetes management
Management at school
Puberty and adolescence
Type 2 diabetes
Hypoglycaemia
Causes
Investigations
Treatment
Thyroid disorders
Congenital hypothyroidism
Acquired hypothyroidism
Hyperthyroidism
Pituitary disorders
Growth hormone deficiency
Growth hormone treatment
Gonadotrophin (lutenizing hormone and follicle stimulating hormone) secretion
Diabetes insipidus secondary to antidiuretic hormone insufficiency
Adrenocorticotrophin hormone (ACTH) deficiency and excess
Adrenal disorders
Primary adrenal insufficiency
Presentation
Diagnosis
Management
Congenital adrenal hyperplasia
Diagnosis
Management
Cushing syndrome
Disorders of sex development
Parathyroid disorders
Acknowledgements
Further reading
27. Inborn errors of metabolism
Overview
Classification
Frequency
Presentation
Genetics
Investigations
Management
Newborn blood spot screening
Metabolic disease and acid–base disturbance
The anion gap
Hyperammonaemia
Hypoglycaemia
Glycogen storage disorders
Lysosomal storage disorders
Mucopolysaccharidoses (MPS)
Mitochondrial disease
Lipid storage disorders
Disorders of lipid metabolism
Acknowledgements
Websites
28. Musculoskeletal disorders
Assessment of the musculoskeletal system
Variations of normal posture
Bow legs (genu varum) and knock-knees (genu valgum)
Flat feet (pes planus)
In-toeing
Toe walking
Abnormal posture
Talipes equinovarus (clubfoot)
Vertical talus
Talipes calcaneovalgus
Tarsal coalition
Pes cavus
Developmental dysplasia of the hip (DDH)
Scoliosis
Torticollis
The painful limb, knee, and back
Growing pains
Hypermobility
Complex regional pain syndromes
Acute-onset limb pain
Osteomyelitis
Presentation
Investigation
Treatment
Malignant disease
Bone tumours
The painful knee
Osgood–Schlatter disease
Chondromalacia patellae
Osteochondritis dissecans (segmental avascular necrosis of the subchondral bone)
Subluxation and dislocation of the patella
Injuries
Back pain
Limp
Transient synovitis (‘irritable hip’)
Legg–Calve–Perthes disease
Slipped capital femoral epiphysis (SCFE)
Arthritis
Reactive arthritis
Septic arthritis
Presentation
Investigation and management
Juvenile idiopathic arthritis (JIA)
Complications
Chronic anterior uveitis
Joint contractures and erosions
Growth faltering
Macrophage activation syndrome
Constitutional problems
Osteoporosis
Amyloidosis
Management
Multidisciplinary team
Prognosis
Henoch–Schönlein purpura
Juvenile dermatomyositis
Auto-inflammatory syndromes
Genetic skeletal conditions
Achondroplasia
Thanatophoric dysplasia
Cleidocranial dysostosis
Arthrogryposis
Osteogenesis imperfecta (brittle bone disease)
Osteopetrosis (marble bone disease)
Marfan syndrome
Acknowledgements
Further reading
29. Neurological disorders
Headache
Primary headaches
Tension-type headache
Migraine
Migraine without aura
Migraine with aura
Uncommon forms of migraine
Secondary headaches
Raised intracranial pressure and space-occupying lesions
Medication overuse headache
Other causes
Management
Rescue treatments
Prophylactic treatments
Psychosocial support
Epileptic seizures
Convulsions
Causes of seizures
Epilepsies
Acute symptomatic epileptic seizures
Seizures
Febrile seizures
Non-epileptic seizures (Paroxysmal disorders)
Diagnosis
Investigation
ECG
EEG (electroencephalogram)
Brain imaging
Other investigations
Management
Antiepileptic drug therapy
Other treatment options
Advice and prognosis
Epilepsies of childhood
Status epilepticus
Motor disorders
Central motor disorders
Cerebral palsy
Investigations
Peripheral motor disorders: the neuromuscular disorders
Disorders of the anterior horn cell
Spinal muscular atrophy
Spinal muscular atrophy type 1 (Werdnig–Hoffmann disease)
Peripheral neuropathies
Charcot–Marie–Tooth disease (the hereditary motor sensory neuropathies)
Guillain–Barré syndrome (acute post-infectious polyneuropathy)
Bell palsy and facial nerve palsies
Disorders of neuromuscular transmission
Myasthenia gravis
Juvenile myasthenia
Congenital myasthenic syndromes
Muscle disorders
The muscular dystrophies
Duchenne muscular dystrophy (DMD)
Management
Becker muscular dystrophy
Limb girdle muscular dystrophies
Congenital muscular dystrophies
Congenital myopathies
Metabolic myopathies
The inflammatory myopathies
Benign acute myositis
Dermatomyositis
Myotonic disorders
Dystrophia myotonica type I
The hypotonic or ‘floppy’ infant
Ataxia
Friedreich ataxia
Ataxia telangiectasia
Cerebrovascular disease
Intracranial haemorrhage
Extradural haemorrhage
Subdural haematoma
Subarachnoid haemorrhage
Stroke
Microcephaly and macrocephaly
Neural tube defects and hydrocephalus
Neural tube defects
Anencephaly
Encephalocele
Spina bifida occulta
Meningocele and myelomeningocele
Management
Hydrocephalus
Clinical features
Neurocutaneous syndromes
Neurofibromatosis
Tuberous sclerosis
Sturge–Weber syndrome
Neurodegenerative disorders
Leukodystrophies
Poliodystrophies
Acknowledgements
Further reading
30. Adolescent medicine
Communicating with adolescents
Consent and confidentiality
Consent
Confidentiality
Range of health problems
Mortality
Impact of chronic illness
Adherence
Fatigue, headache, and other somatic symptoms
Mental health problems
Health-risk behaviour
Sexual health
Management of sexually transmitted infections
Contraception
Emergency contraception
Teenage parenthood
Health promotion
Transition to adult services
Acknowledgements
Further reading
Websites
31. Global child health
Child mortality
Where deaths occur
Determining child mortality rates and health outcomes in different countries
Why is child mortality so high?
Reducing child mortality
Sustainable Development Goals
Improving neonatal survival
Maternal health and obstetric care
Saving newborn lives
Improving the survival and quality of life of children
Nutrition – undernutrition and obesity
Infection
Injuries
Non-communicable diseases (NCDs)
Mental health disorders
Coexisting multiple pathologies: a major threat to child survival
Children affected by conflict
Climate change
Outbreaks and emerging infections
Acknowledgements
Further reading
Appendix
Growth charts
Gestational age assessment of newborn infants (Fig. A.2)
Paediatric Early Warning Score (PEWS) (Fig. A.3)
Management action plan for asthma (Fig. A.4)
Blood pressure chart (Fig. A.5)
Peak flow chart (Fig. A.6)
Forced expiratory volume in 1 second (FEV1) (Fig. A.7)
Imaging in children
Blood tests
Taking blood from children
WETFLAG emergency management of resuscitation based on estimation of a child’s weight based on age (Table A.4)
Parkland formula for burns