Ebook Paediatrics and child health: Part 1

The Great Ormond Street Colour Handbook of

Paediatrics and
Child Health
Stephan Strobel
MD, PhD, MRCP(Hon), FRCP, FRCPCH

Honorary Professor of Paediatrics and Clinical Immunology
UCL Institute of Child Health, University College London, UK

Director
Peninsula Postgraduate Health Institute, Peninsula Medical School, Plymouth, UK

Stephen D Marks
MBChB, MSc, MRCP(UK), DCH, FRCPCH

Consultant Paediatric Nephrologist
Great Ormond Street Hospital for Children NHS Trust, London, UK

Peter K Smith
BMedSci, MBBS, FRACP, PhD

Consultant Paediatric Allergist
Bond University, Queensland, Australia

Magdi H El Habbal
MSc, MD, MRCPCH

Consultant in Paediatrics and Cardiology

Hull Royal Infirmary, UK

Lewis Spitz
MBChB, PhD, MD(Hon), FRCS(Edin), FRCS(Eng), FAAP(Hon), FRCPCH

Nuffield Professor of Paediatric Surgery
Great Ormond Street Hospital for Children NHS Trust, London, UK

MANSON
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ACKNOWLEDGEMENTS
The authors and editors would like to extend sincere thanks to the following people, who loaned clinical
photographs and illustrations, advised, commented, and inspired. In particular we are grateful to the children
and families who have consented to the inclusion of their photographs in this handbook – which would not
have been possible without their help and cooperation – and to the dedicated staff who cared for them.
Chapter 2, Child Protection: Professor Christine Hall, Great Ormond Street Hospital NHS Trust.
Chapter 3, Infectious Diseases: Dr Jane Crawley, John Radcliffe Hospital, Oxford.
Chapter 7, Ophthalmology: Professor Stephen A Vernon, University Hospital, Nottingham.
Chapter 8, Neurology: Professor Brian Neville, Professor Richard Robinson, Dr Helen Cross,

Professor Robert Surtees, Dr Lucinda Carr, Dr Carlos de Sousa, Dr Sarah Benton, Dr Vijeya Ganesan,
Dr John Wilson, Dr Edward Brett, Dr Colin Kennedy, and Dr Neil Thomas.
Chapter 9, Gastroenterology: Peter Milla (Professor of Paediatric Gastroenterology), Virpe Smith,
Alan Ramsay, Peter Clayton (Professor of Metabolic Medicine) and the Histopathology Department
of Great Ormond Street Hospital NHS Trust.
Chapter 10, Renal Diseases: Professor T M Barratt, Professor Michael Dillon, and Adrian Woolf.
Chapter 11, Blood Diseases: Dr Jon Pritchard (Hodgkin’s lymphoma).
Chapter 13, Endocrinology: Professor M A Preece and Dr P C Hindmarsh.
Chapter 20, Otolaryngology: Tony Wright.
Chapter 22, Orthopaedics and fractures: Mr H Noordeen (Spinal problems) and Mr R Birch
(Brachial plexus injuries).


Contents
CONTENTS
Contributors . . . . . . . . . . . . 9
Foreword . . . . . . . . . . . . . 12
Preface . . . . . . . . . . . . . . . 13

CHAPTER 1
Emergency Medicine
Introduction . . . . . . . . . . . . 15
Anaphylaxis . . . . . . . . . . . . . 15
Upper airway obstruction . . 17
Asthma . . . . . . . . . . . . . . . . . 20
Bronchiolitis . . . . . . . . . . . . . 23
Cardiac emergencies . . . . . . . 25
Cyanosis
Cardiogenic shock
Arrythmias

Septic shock and
multi-organ failure . . . . . 28
The head-injured child . . . . . 30
The child with multiple
injuries . . . . . . . . . . . . . . 32
Burns . . . . . . . . . . . . . . . . . . 34
Diabetic ketoacidosis . . . . . . 35
Status epilepticus . . . . . . . . . 37
Poisoning . . . . . . . . . . . . . . . 40
Sedation in PICU . . . . . . . . 41
Methods of oxygen
delivery . . . . . . . . . . . . . . 45

CHAPTER 2
Child Protection
Forms of child abuse . . . . . . 46
Physical abuse . . . . . . . . . . . 48
Bite marks
Bruises
Burns and scalds
Fractures
Shaken baby syndrome
Fabricated or induced illness

Neglect . . . . . . . . . . . . . . . . 54
Sexual abuse . . . . . . . . . . . . . 55
Management of child abuse 57

CHAPTER 3

Infectious Diseases
Bacteria . . . . . . . . . . . . . . . . 59
Diphtheria
Tetanus
Meningococcal infections
Tuberculosis
Tuberculous meningitis
(TBM)

Non-tuberculous
mycobacterial infections (NTM)
Staphylococcal toxic shock
syndrome (TSS)
Pyogenic liver abscess

Viruses . . . . . . . . . . . . . . . . . 69
HIV infection and AIDS
Infectious mononucleosis
Neonatal herpes simplex
virus
Varicella (chicken pox)
Herpes zoster (shingles)
Measles

Protozoa/fungi/tropical
diseases/miscellaneous . . 79
Congenital toxoplasmosis
(CT)
Cryptosporidiosis
Cysticercosis

(neurocysticercosis)
Invasive aspergillosis
Malaria
Schistosomiasis (urinary)
Kawasaki disease

CHAPTER 4
Respiratory Medicine
Cystic fibrosis . . . . . . . . . . . . 88
Asthma and recurrent
wheeze . . . . . . . . . . . . . . 90
Bronchiolitis . . . . . . . . . . . . . 91
Pneumonia . . . . . . . . . . . . . . 92
Chronic aspiration . . . . . . . . 93
Pneumothorax . . . . . . . . . . . 94
Empyema . . . . . . . . . . . . . . . 95
Bronchiectasis . . . . . . . . . . . 90
Pierre Robin anomalad . . . . . 96
CHARGE association . . . . . 97
Tracheobronchomalacia . . . . 98
Diaphragmatic hernia . . . . . . 99
Foreign body . . . . . . . . . . . 100
Miliary pattern
on chest imaging . . . . . . 101
Primary ciliary dyskinesia . . 102
Mycoplasma pneumoniae . . 103
Asphyxiating thoracic
dystrophy . . . . . . . . . . . 104
Pulmonary agenesis and
aplasia . . . . . . . . . . . . . . 105

Congenital lobar
emphysema (CLE) . . . . 105
Bronchogenic cyst . . . . . . . 106

Congenital cystic adenomatoid
malformation
(CCAM) . . . . . . . . . . . . 107
Scimitar syndrome . . . . . . . 108
Desquamative interstitial
pneumonitis/fibrosing
alveolitis . . . . . . . . . . . . 108

CHAPTER 5
Cardiology
Ventricular septal defect
(VSD) . . . . . . . . . . . . . . 110
Atrial septal defect
(ASD) . . . . . . . . . . . . . . 112
Coarctation of the aorta . . . 113
Patent arterial duct
(PAD) . . . . . . . . . . . . . . 114
Tetralogy of Fallot (ToF) . . 116
Pulmonary stenosis . . . . . . 118
Aortic stenosis . . . . . . . . . . 119
Cardiomyopathy . . . . . . . . 120
Supraventricular
tachycardia (SVT) . . . . . 121
Pericarditis and pericardial
effusion . . . . . . . . . . . . . 122
Heart block . . . . . . . . . . . . 123

Anomalous pulmonary
venous drainage . . . . . . 124
Endocarditis . . . . . . . . . . . . 125
Tricuspid atresia . . . . . . . . . 126
Transposition of great
arteries . . . . . . . . . . . . . 127
Corrected transposition of
great arteries . . . . . . . . . 128
Vascular ring . . . . . . . . . . . 129

CHAPTER 6
Dermatology
Viral warts . . . . . . . . . . . . . 131
Molluscum contagiosum . . 132
Atopic dermatitis
(atopic eczema) . . . . . . . 133
Scabies . . . . . . . . . . . . . . . . 134
Haemangioma . . . . . . . . . . 135
Orofacial herpes simplex . . . 136
Pyogenic granuloma . . . . . . 137
Keloid . . . . . . . . . . . . . . . . 138
Pityriasis versicolor . . . . . . . 139
Pityriasis rosacea . . . . . . . . . 140
Vitiligo . . . . . . . . . . . . . . . . 140


Contents

4
Psoriasis . . . . . . . . . . . . . . . 141

Port wine stain . . . . . . . . . . 142
Urticaria pigmentosa . . . . . 143
Eczema herpecticum . . . . . 144
Erythema multiforme . . . . . 145
Anogenital warts . . . . . . . . 147
Lichen striatus . . . . . . . . . . 148
Sebaceous naevus . . . . . . . . 148
Verrucous epidermal naevi 149
Langerhans cell histiocytosis
(LCH) . . . . . . . . . . . . . 151
Infantile acne vulgaris . . . . . 152
Tuberous sclerosis . . . . . . . 152
Juvenile dermatomyositis . . 153
Klippel-Trenaunay
syndrome . . . . . . . . . . . 154
Incontinentia pigmenti . . . . 155
Epidermolysis bullosa . . . . . 156
Acrodermatitis
enteropathica . . . . . . . . 158

CHAPTER 7
Ophthalmology
Anatomy of the eye . . . . . . 161
Visual development . . . . . . 163
Lids . . . . . . . . . . . . . . . . . . 164
Coloboma
Symblepharon
Blepharitis
Molluscum contagiosum
Capillary haemangioma

Port wine stain
Ptosis
Lid retraction
Preseptal cellulitis
The watering eye

Cornea . . . . . . . . . . . . . . . . 167
Developmental disorders
Corneal dystrophies
Keratitis

Conjunctiva . . . . . . . . . . . . 174
Infection-related conjunctivitis
Non infection-related
conjunctivitis
Conjunctival pigmentation
Elevated conjunctival lesions
Diffusely elevated conjunctival
lesions
Conjunctival telangiectasia

Sclera . . . . . . . . . . . . . . . . . 177
Pigmentation of the sclera
Scleral inflammation

Developmental anomalies of
the globe . . . . . . . . . . . .178

Iris . . . . . . . . . . . . . . . . . . . 179
Congenital iris defects

Aquired iris defects
Changes in iris colour
Heterochromia irides

Pupil anomalies . . . . . . . . . 182
Leukocoria
Dyscoria
Miosis
Mydriasis
Corectopia
Anisocoria

Lens anomalies . . . . . . . . . . 184
Aphakia
Abnormal shape
Dislocated lens
Lens opacity

Retinal anomalies . . . . . . . . 186
Haemorrhages
Hard exudates
Cotton wool spots
Retinal neovascularization
Retinal vasculitis
Maculopathy
Pale retinal lesions
Retinal detachment
Folds in the fundus

The optic disc . . . . . . . . . . 191

Optic disc swelling
Optic atrophy
Small optic disc
Large optic disc
Large optic disc cup

The orbit . . . . . . . . . . . . . . 194
Abnormalities of globe
position
Lacrimal gland enlargement

Eye movement disorders . . 196
Ocular deviation in primary
gaze
Anomalous eye movements
Abnormal head positions

CHAPTER 8
Neurology
Neurological examination:
cranial nerves . . . . . . . . 205
Myasthenia . . . . . . . . . . . . . 207
Disorders of eye movement 208
Facial palsy . . . . . . . . . . . . .209
Lower cranial nerve
abnormalities . . . . . . . . 211
Wilson’s disease . . . . . . . . . 212
Sydenham’s chorea . . . . . . . 212
Motor system . . . . . . . . . . . 213
Segawa syndrome (Doparesponsive dystonia) . . . 215

Ataxia . . . . . . . . . . . . . . . . . 216
Ataxia-telangiectasia
Friedreich’s ataxia

Hypotonia in infancy . . . . . 218
Hereditary motor and sensory
neuropathy (CharcotMarie-Tooth disease) . . 220
Spinal muscular atrophy
type 1 (WerdnigHoffman disease) . . . . . 221
Acute generalized weakness
in a previously well child 221
Guillain-Barré syndrome . . 222
Dermatomyositis . . . . . . . . 223
Spinal cord disorders . . . . . 224
Chronic and progressive
weakness in the older
child . . . . . . . . . . . . . . . 225
Cerebral palsy . . . . . . . . . . . 227
Spina bifida . . . . . . . . . . . . 229
Headaches . . . . . . . . . . . . . 230
Migraine
Psychogenic headaches
Intracranial hypertension

Hydrocephalus . . . . . . . . . . 232
Brain tumours . . . . . . . . . . 234
Common brain tumours in
children . . . . . . . . . . . . . 236
Macrocephaly . . . . . . . . . . . 237

Psuedotumor cerebri
(benign intracranial
hypertension) . . . . . . . . 237
Learning difficulties . . . . . . 238
Epilepsy . . . . . . . . . . . . . . . 240
Neurological and cognitive
deterioration . . . . . . . . . 243
Common conditions
with neurological
deterioration . . . . . . . . . 244
Multiple sclerosis
Adrenoleukodystrophy
Krabbe’s (globoid cell)
leukodystrophy
Metachromic leukodystrophy
Ceroid lipofuscinoses
Tay Sach’s disease
Leigh’s disease

Coma and acute
encephalopathies . . . . . . 246
Stroke . . . . . . . . . . . . . . . . 249


Contents
CHAPTER 9
Gastroenterology
Clinical presentation . . . . . .253
Acute gastroenteritis
Failure to thrive

Constipation
Infantile colic
Recurrent abdominal pain
Toddler’s diarrhoea
Chronic intractable diarrhoea
Chronic intestinal failure

Gastrointestinal diagnoses . .261
Fabricated and induced illness
Coeliac disease
Food-sensitive enteropathy
Autoimmune enteropathy
Eosinophilic
gastroenteropathy
Classic inflammatory bowel
disease
Ulcerative colitis
Crohn’s disease
Allergic colitis
Lymphangiectasia
Ulcers
Polyps

Infections and infestations . .272
Helicobacter pylori
Campylobacter jejuni
Clostridium difficile
Salmonella
Pathogenic Escherichia coli
Giardia lamblia

Yersinia enterocolitica
Cryptosporidium
Ascaris lumbricoides
(roundworm)
Enterobius vermicularis
(threadworm)

Feeding problems . . . . . . . 277
Gastro-oesophageal reflux 278
Intestinal pseudoobstruction . . . . . . . . . . 279
Short bowel syndrome . . . . 279
Congenital and inherited
disorders . . . . . . . . . . . . 281
Congenital chloride diarrhoea
Glucose galactose
malabsorption
Sucrose-isomaltase deficiency
Lactose malabsorption
Cystic fibrosis

Pancreatic disease . . . . . . . . 284
Shwachman-Diamond
syndrome
Acute pancreatitis
Chronic/hereditary
pancreatitis

Liver disease . . . . . . . . . . . . 286
Sclerosing cholangitis
Chronic hepatitis

Acute hepatitis
Alagille syndrome

Mineral deficiencies . . . . . . 288
Zinc deficiency
Iron deficiency
Copper deficiency
Copper excess: Wilson’s
disease
Selenium deficiency

Vitamin deficiencies . . . . . . 291
Scurvy, vitamin C/ascorbic
acid deficiency
Beriberi, vitamin B1, thiamin
deficiency
Pellagra/niacin deficiency
Riboflavin/vitamin B2
deficiency
Cyanocobalamin/vitamin B12
deficiency
Vitamin K/napthaquinone
deficiency
Retinol/vitamin A deficiency
Tocopherol/vitamin E
deficiency
Vitamin D deficiency

CHAPTER 10
Renal Diseases

Haemolytic uraemic
syndrome (HUS) . . . . . 297
Nephrotic syndrome . . . . . 299
Polycystic kidney diseases . . 301
Vesico-ureteric reflux and
its nephropathy . . . . . . . 302
Henoch-Schönlein purpura 304
Renal agenesis and dysplasia 305
Renal Fanconi syndrome . . 306
Childhood hypertension due
to reno-vascular disease . 307
Renal bone disease in
children with chronic
renal failure . . . . . . . . . . 308
Acute renal failure . . . . . . . 310

CHAPTER 11
Blood Diseases
Hodgkin’s lymphoma . . . . .313
B-cell non-Hodgkin’s
lymphoma . . . . . . . . . . . 314
T-cell non-Hodgkin’s
lymphoma
(NHL)/leukaemia . . . . 315
Monocytic and
myelomonocytic
leukaemia . . . . . . . . . . . 316

5
Extramedullary acute

lymphoblastic leukaemia 317
Juvenile myelomonocytic
leukaemia . . . . . . . . . . . 318
Eosinophilic
myeloproliferative disorder
with chromosomal 5;12
translocation (t5;12) . . . 319
Severe haemophilia A and B
(classic haemophilia and
Christmas disease) . . . . . 320
Kasabach-Merritt syndrome 321
Von Willebrand’s disease
(vWD) . . . . . . . . . . . . . 321
Thrombocytopenia with
absent radius (TAR) . . . 322
Bernard-Soulier syndrome 323
Transcobalamin II
deficiency . . . . . . . . . . . 324
Fanconi anaemia . . . . . . . . 324
Dyskeratosis congenita . . . . 325
Congenital erythropoietic
porphyria (CEP) . . . . . . 326
Idiopathic pulmonary
haemosiderosis . . . . . . . 327
Beta thalassaemia major . . . 328
Pyruvate kinase deficiency 330
Sickle cell disease . . . . . . . . 330
Hereditary elliptocytosis . . . 332
Iron deficiency anaemia . . . 332
Sideroblastic anaemia . . . . . 333

Glucose-6-phosphate
deficiency . . . . . . . . . . . 333
Leishmaniasis . . . . . . . . . . . 334
Gaucher disease . . . . . . . . . 334
Osteopetrosis . . . . . . . . . . . 335

CHAPTER 12
Solid Tumours and
Histiocytosis
Introduction . . . . . . . . . . . 337
Wilms’ tumour and other
renal tumours . . . . . . . . 338
Liver tumours . . . . . . . . . . 341
Histiocytosis . . . . . . . . . . . . 342
Langerhans cell histiocytosis
(LCH)
Haemophagocytic
lymphohistiocytosis (HLH)

Rhabdomyosarcoma, other
soft tissue sarcomas and
fibromatosis . . . . . . . . . 348
Neuroblastoma . . . . . . . . . .352
Retinoblastoma . . . . . . . . . 354


Contents

6
Ewing’s sarcoma and

peripheral primitive
neuroectodermal
tumour (pPNET) . . . . . 355
Osteosarcoma . . . . . . . . . . 356
Extracranial malignant
germ cell tumours . . . . . 357
Tumours of the central
nervous system . . . . . . . .358
Ependymoma
Medulloblastoma/pNET
High-grade supratentorial
glioma
Brain stem glioma
Low grade astrocytoma

Rare tumours and rare
manifestations of
common tumours . . . . . 361
Carcinomas . . . . . . . . . . . . .361
Thyroid carcinoma
Nasopharyngeal carcinoma
(NPC)
Adrenocortical carcinoma
(ACC)
Salivary gland tumours
Renal cell carcinoma (RCC)

Skin cancers . . . . . . . . . . . .364
Late effects of cancer
treatment . . . . . . . . . . . .365

CHAPTER 13
Endocrinology
Ambiguous genitalia . . . . . 367
The short child . . . . . . . . . 368
Turner syndrome . . . . . . . . 370
Low birth weight syndrome 371
Prader-Willi syndrome . . . . 372
Skeletal dysplasias . . . . . . . . 373
Growth hormone
deficiency/insufficiency 374
Laron-type dwarfism . . . . . 376
Tall stature . . . . . . . . . . . . . 377
Marfan syndrome . . . . . . . . 378
Pituitary gigantism . . . . . . . 379
Early puberty . . . . . . . . . . . 380
Premature thelarche/thelarche
variant or ‘benign’
precocious puberty . . . . 381
Gonadotrophin-dependent
(central) precocious
puberty . . . . . . . . . . . . . 382
McCune-Albright
syndrome . . . . . . . . . . . .383
Polycystic ovarian disease . . 384
Late puberty . . . . . . . . . . . 385
Klinefelter syndrome . . . . . 386
Congenital hypothyroidism 387
Acquired hypothyroidism . . 388

Primary adrenal
insufficiency . . . . . . . . . 389
Cushing syndrome . . . . . . . 390
Congenital adrenal
hyperplasia . . . . . . . . . . 392
Rickets . . . . . . . . . . . . . . . . 393
Graves’ disease . . . . . . . . . . 394
Hypoparathyroidism/pseudohypoparathyroidism . . . 395
Williams syndrome . . . . . . . 397
Hyperinsulinism . . . . . . . . . 398
Insulin resistance
syndromes . . . . . . . . . . . 399
Diabetes mellitus . . . . . . . . .400

Adrenoleukodystrophy . . . . 406
Gaucher disease . . . . . . . . . 407
Hurler’s disease . . . . . . . . . 408
Urea cycle disorders . . . . . . 409
Galactosaemia . . . . . . . . . . 410
Fatty acid oxidation defects 411
Tyrosinaemia . . . . . . . . . . . 412
Glycogen storage disease
type 1 . . . . . . . . . . . . . . 413
Peroxisomal biogenesis
disorders . . . . . . . . . . . . 414
Leigh syndrome . . . . . . . . . 415
Menke’s disease . . . . . . . . . 416
Wilson’s disease . . . . . . . . . 417
Phenylketonuria . . . . . . . . . 418
Biotin disorders . . . . . . . . . 419

Alpha-1-antitypsin
deficiency (AT) . . . . . . . 420

De Lange syndrome . . . . . . 428
Angelman syndrome . . . . . 429
Frontonasal dysplasia . . . . . 430
VATER association . . . . . . . 430
Goldenhar syndrome . . . . . 431
Bardet-Biedl syndrome . . . . 432
CHARGE association . . . . 432
Marfan syndrome . . . . . . . . 433
Velocardiofacial syndrome . .433
Tuberous sclerosis . . . . . . . 434
Neurofibromatosis type 1 . . 435
Moebius syndrome . . . . . . . 436
Stickler syndrome . . . . . . . . 436
Russell-Silver syndrome . . . 437
Achondroplasia . . . . . . . . . 437
Hypochondroplasia . . . . . . 438
Osteogenesis imperfecta . . . 438
Ehlers-Danlos syndrome . . 439
Beckwith-Wiedemann
syndrome . . . . . . . . . . . 440
Sotos syndrome . . . . . . . . . 440
Robinow syndrome . . . . . . 441
EEC syndrome . . . . . . . . . . 441
Cockayne syndrome . . . . . . 442
Apert syndrome . . . . . . . . . 442
Pfeiffer syndrome . . . . . . . . 443
Crouzon syndrome . . . . . . 444

Holoprosencephaly . . . . . . 444
Coffin-Lowry syndrome . . . 445
Blepharophimosis, ptosis,
epicanthus inversus
syndrome (BPES) . . . . . 445
Meckel-Gruber syndrome 446
Greig syndrome . . . . . . . . . 446
Holt-Oram syndrome . . . . 447
Roberts syndrome . . . . . . . 447
Microcephaly . . . . . . . . . . . 448
Fanconi anaemia . . . . . . . . 448

CHAPTER 15
Genetics

CHAPTER 16
Immunology

Down syndrome
(trisomy 21) . . . . . . . . . 421
Edwards syndrome
(trisomy 18) . . . . . . . . . 422
Patau syndrome
(trisomy 13) . . . . . . . . . 422
Wolf-Hirschhorn syndrome
(4p–) . . . . . . . . . . . . . . . 423
Cri-du-chat syndrome
(5p–) . . . . . . . . . . . . . . . 423
Turner syndrome (XO) . . . 424
Noonan syndrome . . . . . . . 424

Chromosome mosaicism . . 425
Fragile X syndrome . . . . . . 426
Williams syndrome . . . . . . . 426
Rubinstein-Taybi syndrome 427

Common variable
immunodeficiency
(CVID) . . . . . . . . . . . . . 449
Hypogammaglobulinaemia
with hyper-IgM (CD40
ligand deficiency) . . . . . 450
Wiskott-Aldrich syndrome 451
X-linked agammaglobulinemia
(Bruton’s disease) . . . . . 452
Chronic mucocutaneous
candidiasis (CMC) . . . . 453
Ataxia-telangiectasia . . . . . . 454
X-linked lymphoproliferative
disease (XLP, Duncan’s
syndrome) . . . . . . . . . . . 455
Chediak-Higashi syndrome 456
Leukocyte adhesion defects 457

Type 1 diabetes
Type 2 diabetes
Maturity Onset Diabetes of
the Young (MODY)

CHAPTER 14
Metabolic Diseases

Contents
Di George syndrome . . . . . 459
Chronic granulomatous
disease (CGD) . . . . . . . 460
Hyper-IgE syndrome . . . . . 461
Severe combined
immunodeficiency
(SCID) . . . . . . . . . . . . . 462
Omenn syndrome (SCID
variant) . . . . . . . . . . . . . 463
Adenosine deaminase
(ADA) deficiency (SCID
variant) . . . . . . . . . . . . . 464
MHC (major histocompatibility
complex) class II
deficiency . . . . . . . . . . . 465

CHAPTER 17
Rheumatology
Juvenile idiopathic arthritis
(JIA) . . . . . . . . . . . . . . . 467
Systemic onset JIA
Polyarticular onset:
rheumatoid factor negative
JIA
Polyarticular onset:
rheumatoid factor positive
JIA

Oligoarticular arthritis

Enthesitis-related arthritis 470
Psoriatic arthritis . . . . . . . . 471
Arthritis associated with
other chronic diseases . . 471
Scleroderma . . . . . . . . . . . . 472
Systemic sclerosis
Localized scleroderma

Dermatomyositis . . . . . . . . 473
Vasculitides . . . . . . . . . . . . 474
Kawasaki disease
Polyarteritis nodosa (PAN)

Henoch-Schönlein purpura 475
Mixed connective tissue
disease (MCTD) . . . . . . 475
Systemic lupus
erythematosus (SLE) . . 476
Overlap connective tissue
disease (CTD) . . . . . . . . 476
Chronic infantile neurological
cutaneous and articular
syndrome (CINCA) . . . 477
Chronic recurrent
multifocal osteomyelitis
(CRMO) . . . . . . . . . . . 478
Periodic fever syndromes . . 478
Familial Mediterranean fever

Other genetic periodic fevers

Chronic pain syndrome . . . .479
Fibromyalgia . . . . . . . . . . . 479
Reflex sympathetic dystrophy
(algodystrophy) . . . . . . . 479

Benign joint hypermobility
syndrome . . . . . . . . . . . 480

CHAPTER 18
Speech and Language
Therapy
Introduction . . . . . . . . . . . 481
Developmental difficulties:
speech . . . . . . . . . . . . . . 482
Developmental difficulties:
language . . . . . . . . . . . . 483
Alternative and augmentative
communication (AAC) 484
Acquired neurological speech
and language disorders 484
Acquired childhood aphasia
Aquired childhood dysarthria
Acquired childhood
articulatory dyspraxia

Stammering/stuttering
dysfluency . . . . . . . . . . . 486
Voice disorders/dysphonia . 487

Tracheostomy . . . . . . . . . . 488
Resonance/airflow
disorders . . . . . . . . . . . .489
Dysphagia . . . . . . . . . . . . . 490
Craniofacial conditions . . . . 491
Cleft lip/palate . . . . . . . . . 492

CHAPTER 19
Neonatal and General
Paediatric Surgery
Oesophageal atresia . . . . . . 496
Congenital diaphragmatic
hernia . . . . . . . . . . . . . . 497
Neonatal intestinal
obstruction . . . . . . . . . . 499
Meconium ileus
Duodenal atresia
Intestinal atresia
Anorectal anomalies
Hirschsprung’s disease
Malrotation
Duplications of the alimentary
tract
Necrotizing enterocolitis
(NEC)
Exomphalos
Gastroschisis
Umbilical hernia

Umbilical anomalies . . . . . . 510

Gastrointestinal
haemorrhage . . . . . . . . . 511
Meckel’s diverticulum . . . . 512
Intussusception . . . . . . . . . 513
Sacrococcygeal teratoma . . 514

7
Appendicitis . . . . . . . . . . . . 515
Neck lesions . . . . . . . . . . . . 516
Cystic hygroma
Branchial sinus/cyst
Preauricular sinus
Dermoid cysts
Thyroglossal cysts/fistulae

Inguinal hernia . . . . . . . . . . 518
Hydrocoele . . . . . . . . . . . . 519
Undescended testis . . . . . . 520
Torsion of the testis . . . . . . 520
Phimosis . . . . . . . . . . . . . . 521
Biliary atresia . . . . . . . . . . . 522
Choledochal cyst . . . . . . . . 522
Vascular malformations . . . 525
Haemangioma
Congenital vascular
malformations
Klippel-Trenaunay
syndrome

Lymphoedema . . . . . . . . . . 525

Spina bifida . . . . . . . . . . . . 526

CHAPTER 20
Otorhinolaryngology
Otitis media with effusion
(OME, ‘glue ear’) . . . . 529
Acute otitis media (AOM) 531
Cholesteatoma . . . . . . . . . . 532
Chronic suppurative otitis
media (CSOM) . . . . . . . 533
Otitis externa . . . . . . . . . . . 534
Aural polyps . . . . . . . . . . . . 534
Aural foreign bodies . . . . . . 535
Congenital anomalies of
the ear . . . . . . . . . . . . . . 535
Pre-auricular sinus and
abscess
External ear
Middle ear anomalies
Inner ear anomalies

Nasal polyps . . . . . . . . . . . . 536
Rhinosinusitis . . . . . . . . . . . 537
Nasal mass . . . . . . . . . . . . . 538
Nasal glioma
Postnasal angiofibroma

Nasal foreign bodies . . . . . . 539
Choanal atresia . . . . . . . . . . 539
Tonsillitis (acute, chronic

and recurrent) . . . . . . . . 540
Peritonsillar abscess
(quinsy) . . . . . . . . . . . . 541
Retropharyngeal abscess . . . 541
Obstructive sleep apnoea
(OSA) . . . . . . . . . . . . . . 541


Contents

8
Laryngomalacia . . . . . . . . . 542
Recurrent respiratory
papillomatosis . . . . . . . . 542
Subglottic stenosis . . . . . . . 543
Laryngeal and
tracheobronchial foreign
bodies . . . . . . . . . . . . . .544
Branchial sinuses and cysts 545
Paediatric head and neck
masses . . . . . . . . . . . . . . 546
Thyroglossal duct cyst . . . . 546
Oropharyngeal and
oesophageal foreign
bodies . . . . . . . . . . . . . . 547

CHAPTER 21
Oral and Dental
Surgery
Dental fluorosis . . . . . . . . . 548

Gingival inflammation . . . . 548
Herpetic gingivostomatitis 549
Tetracycline staining . . . . . . 550
Fissure sealant . . . . . . . . . . 550
Retained deciduous incisors 551
Unerupted (displaced)
upper left central incisor 551
Dentigerous cyst . . . . . . . . 552
Odontodysplasia . . . . . . . . 552
Autotransplantation . . . . . . 553
Complex periodontitis . . . . 553
Enamel hypoplasia . . . . . . . 554
Dentinogenesis imperfecta 554
Amelogenesis imperfecta
(hypoplastic variety) . . . 555
Amelogenesis imperfecta
(hypomineralized
variety) . . . . . . . . . . . . . 556
Infected tooth germ . . . . . . 556
Facial abscess . . . . . . . . . . . 557
Dens invaginatus . . . . . . . . 557
Hypodontia . . . . . . . . . . . . 558
Cavernous haemangioma
of the tongue . . . . . . . . 559
Cervico-facial
lymphadenitis . . . . . . . . 559
Eosinophilic granuloma . . . 559
Congenital epulis . . . . . . . . 560
Pyogenic granuloma . . . . . . 560
Severe gingivitis . . . . . . . . . 565

Benign migratory glossitis
(geographic tongue) . . . 561
Mucous cyst . . . . . . . . . . . . 562
Candidiasis and radiation
mucositis . . . . . . . . . . . . 562

Herpes labialis (recurrent
herpes) . . . . . . . . . . . . . 563

CHAPTER 22
Orthopaedics and
Fractures
Introduction . . . . . . . . . . . .564
Common normal variants . . 564
Tibiofemoral angle
Torsional deformity
Flat feet

Lower limb anomalies . . . . 568
Flat feet
Pes cavus
Genu valgum and genu
varum
In-toe/out-toe gait
Club foot (congenital talipes
equinovarum)
Developmental dysplasia of
the hip (DDH)
Limb length discrepancy
Proximal femoral focal

deficiency
Congenital tibial deficiency
Cngenital fibular deficiency
Painful limp

Digital anomalies . . . . . . . . 580
Syndactyly
Polydactyly

Upper limb anomalies . . . . 582
Pseudarthrosis of the clavicle
Sprengel’s congenital
scapular elevation
Congenital dislocation of
radial head
Radioulnar synostosis
Madelung’s deformity
Radial club hand
Ulnar deficiency
Flexed thmb

Forearm fractures
Femoral fractures
Patellar fractires
Proximal tibial fractures
Traction injuries and stress
fractures
Non-accidental fractures
Pathological fractures

Treatment of late
deformities . . . . . . . . . . 598

CHAPTER 23
Urology
Multicystic dysplastic
kidney . . . . . . . . . . . . . .600
Neuropathic voiding
dysfunction
and incontinence . . . . . . 601
Exstrophy/epispadias
complex . . . . . . . . . . . . 602
Testicular tumours . . . . . . . 603
Hypospadias . . . . . . . . . . . . 604
Wilms’ tumour . . . . . . . . . . 604
Urogenital
rhabdomyosarcoma . . . . 606
Prune-belly syndrome . . . . 606
Congenital abnormalities
of urine flow (PUJ and
UVJ anomalies) . . . . . . 607
Urolithiasis . . . . . . . . . . . . . 608
Posterior urethral valves . . . 609
Cryptorchidism . . . . . . . . . 610
Ambiguous genitalia . . . . . 611
Anomalies of kidney
position and number . . . 612
Ureteral duplication . . . . . . 613
Vesicoureteric reflux . . . . . . 614
Ureterocoele . . . . . . . . . . . 615

Spinal problems . . . . . . . . . 584
Scoliosis
Backpain
Spina bifida

Brachial plexus injuries . . . . 587
Torticollis . . . . . . . . . . . . . . 588
Cerebral palsy . . . . . . . . . . . 588
Arthrogryposis . . . . . . . . . .589
Brittle bones (osteogenesis
imperfecta) . . . . . . . . . . 589
Fractures . . . . . . . . . . . . . . 590
Growth plate injuries

‘Special’ paediatric fractures 593
Supracondylar fracture of the
humerus
(Epi)condylar fracture of the
humerus
Radial neck fracture

CHAPTER 24
Heart and Lung
Transplant
Heart transplantation:
endomyocardial biopsy 617
Heart and lung
transplantation . . . . . . . 618
Lung function monitoring 618

Transbronchial biopsy . . . . 619
Acute allograft rejection . . . 620
Bronchiolitis obliterans
syndrome . . . . . . . . . . . 622
Glossary . . . . . . . . . . . . . 626


Contributors

9

CONTRIBUTORS
Dr Huda Al-Ansari, MD DTM&H
Consultant Paediatrician in Infectious
Diseases
Department of Paediatrics
Salmaniya Hospital
Bahrain
Dr David J Atherton, MA MB
BChir FRCP
Consultant Paediatric Dermatologist
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Mr C Martin Bailey, BSc FRCS
Senior Consultant ENT Surgeon
Department Of Paediatric
Otolaryngology
Great Ormond Street Children
Hospital for Children NHS Trust

London, UK
Dr Michael Baraitser, BSc MBChB
FRCP
Previously Consultant in Clinical
Genetics
Great Ormond Street Children
Hospital for Children NHS Trust
London, UK
Dr J Harry Baumer, MBChB FRCP
FRCPCH
Consultant Paediatrician
Derriford Hospital
Plymouth, UK
Professor Charles GD Brook, MD
FRCPCH FRCP
Emeritus Professor of Paediatric
Endocrinology
University College London Hospitals
and Great Ormond Street Hospital
for Children
London, UK
Dr Rose de Bruyn, MBBCh DMRD
FRCR
Consultant Paediatric Radiologist
Department of Radiology
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Ms Lesley Cavalli
Specialist Speech & Language

Therapist
ENT Team – Team Leader
Speech & Language Therapy
Department
Great Ormond Street Children
Hospital for Children NHS Trust
London, UK
Ms Frances M Cook
Principal Speech and Language
Therapist
The Michael Palin Centre for
Stammering Children
London, UK

Dr Mehul T Dattani, MD DCH
FRCPCH FRCP
Reader and Honorary Consultant in
Paediatric Endocrinology
Biochemistry, Endocrinology and
Metabolism Unit
UCL Institute of Child Health
London, UK
Dr Robert Dinwiddie, FRCPCH
Honorary Consultant Paediatrician
Department of Respiratory Medicine
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Sally A Feather, MA MB BChir
MRCP PhD

Consultant Paediatric Nephrologist
Department of Paediatric Nephrology
St James’s University Hospital
Leeds, UK
Mr John A Fixsen, MChir FRCS
Previously Consultant Orthopaedic
Surgeon
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Mark N Gaze, MD FRCP FRCR
Consultant Clinical Oncologist
Department of Oncology
University College Hospital and
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Bert JA Gerritsen, MD, PhD
Consultant Paediatrician
Oosterschelde Hospital
Goes, Netherlands
Professor David Goldblatt, MBChB
PhD MRCP FRCPCH,
Professor of Vaccinology and
Immunology
Honorary Consultant Paediatric
Immunologist
UCL Institute of Child Health
London, UK
Dr Chula DA Goonasekera, PhD

Consultant Paediatric Nephrologist
Faculty of Medicine
University of Peradeniya
Peradeniya, Sri Lanka
The late Dr David B Grant, MD
FRCP
Previously Consultant in Paediatric
Endocrinology
Great Ormond Street Hospital for
Children NHS Trust
London, UK

Professor Richard Grundy, BSc
MBChB MSc MRCP FRCPCH
PhD
Professor of Paediatric NeuroOncology and Cancer Biology
The Children's Brain Tumour Research
Centre
University of Nottingham Medical
School
Nottingham, UK
Dr Magdi H El Habbal, MBChB
MSc MD FRCPCH
Consultant in Paediatrics and
Cardiology
Department of Paediatrics
Hull Royal Infirmary
Hull, UK
Professor Ian M Hann, MD
FRCPath FRCP

Consultant in Paediatric Haematology
Professor of Haematology / Oncology
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Paul I Hargreaves, MBBS
FRCPCH MSc CCDS
Consultant Paediatrician and
Designated Doctor for Child
Protection
Chelsea and Westminster Hospital,
London, UK
Professor John I Harper, MD FRCP
FRCPCH
Professor of Paediatric Dermatology
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Mr Robert A Hill, FRCS
Consultant Orthopaedic Surgeon
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Susan M Hill, BM MRCP(UK)
MRCPCH DM
Consultant Paediatric
Gastroenterologist
Department of Paediatric
Gastroenterology,
Great Ormond Street Hospital for

Children NHS Trust
London, UK
Mr John M Hodapp, MD
Staff Pediatric Urologist
Pediatric Urology Division
Children’s Specialisits of San Diego
San Diego, California, USA
Dr David P Inwald, MBBChir
MRCP MRCPCH PhD
Consultant Paediatric Intensivist
St Mary's Hospital NHS Trust
London, UK


Contributors

10
Dr Alan D Irvine, MD FRCPI
MRCP
Consultant Paediatric Dermatologist
Our Lady’s Hospital for Sick Children
Dublin, Ireland
Dr Alison M Jones, MBBCh
FRCPCH PhD
Consultant Paediatric Immunologist
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Mr David HA Jones, FRCS
Consultant Orthopaedic Surgeon

Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Fenella J Kirkham, MBBChir
FRCPCH
Reader in Paediatric Neurology
Neurosciences Unit
The Wolfson Centre
UCL Institute of Child Health and
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Sarah E Ledermann, MB MRCP
Associate Specialist in Paediatric
Nephrology
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Gill A Levitt, BSc MRCP DCH
Consultant Paediatric Oncologist
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Debra Lomas, MA MB BChir
MRCP
Associate Specialist in Paediatric
Dermatology
Great Ormond Street Hospital for
Children NHS Trust
London, UK

Mr Murali Mahadevan, FRACS
Clinical Director and Consultant
Surgeon
Department of Paediatric
Otolaryngology, Head & Neck
Surgery
Starship Children's Hospital
Auckland, New Zealand
Dr Katie M Mallam, MBChB
MRCPCH
Specialist Registrar in Paediatric
Endocrinology
Bristol Royal Hospital for Children
Bristol, UK

Dr Stephen D Marks, MBChB MSc
MRCP DCH FRCPCH
Consultant Paediatric Nephrologist
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Michael Mars, PhD BDS FDS
DoOrth
Consultant Orthodontist
Great Ormond Street Children
Hospital for Children NHS Trust
London, UK
Dr Anthea G Masarei, BAppSc PhD
MRCSLT
Previously Specialist Speech and

Language Therapist
Great Ormond Street Children
Hospital for Children NHS Trust
London, UK
Dr Antony J Michalski, FRCPCH
PhD
Consultant Paediatric Oncologist
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Professor Pierre DE Mouriquand,
MD, FRCS
Professor of Pediatric Surgery
(Urology)
Department of Paediatric Urology
Debrousse Hospital
Lyon, France
Dr Kevin J Murray, MBBS FRACP
Consultant Paediatric Rheumatologist
Department of Rheumatology
Princess Margaret Hospital for
Children
Perth, Australia
Dr Margot C Nash, MBBS FRACP
MD
Consultant Paediatrician
Department of General Paediatrics
Royal Children's Hospital
Parkville, Victoria, Australia
Ms Jennifer Nayak

Specialist Speech and Language
Therapist
Trent Regional Centre for Cleft Lip
and Palate
Nottingham City Hospital
Nottingham, UK
Mr Ken K Nischal, FRCOphth
Consultant Ophthalmic Surgeon
Great Ormond Street Hospital for
Children NHS Trust
London, UK

Dr Vas M Novelli, FRCP, FRACP,
FRCPCH
Consultant and Lead Clinician in
Paediatric Infectious Diseases
Clinical Infectious Diseases Unit
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Ms Valerie Pereira
Previously Part Time Visiting Assistant
Professor
University of Hong Kong, Division of
Speech and Hearing Sciences
London, UK
Dr Mark J Peters, MBChB MRCP
FRCPCH PhD
Consultant Paediatric Intensivist
Great Ormond Street Hospital for

Children NHS Trust
London, UK
Dr Andy J Petros, MBBS MSc
FRCP FRCPCH FFARCSI MA
Consultant Paediatric Intensivist
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Clarissa A Pilkington, MBBS
BSc MRCP
Consultant Paediatric Rheumatologist
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Ms Katie Price
Specialist Speech and Language
Therapist
Neurodisability
The Wolfson Centre
Great Ormond Street Children
Hospital for Children NHS Trust
London, UK
Dr. Jon Pritchard, FRCPCH
FRCPE
Consultant Paediatric Oncologist
Department of Oncology &
Haematology
Royal Hospital for Sick Children
Edinburgh,UK
Dr Lesley Rees, MD FRCP

FRCPCH
Consultant Paediatric Nephrologist
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Professor Sheena Reilly
Professor of Paediatric Speech
Pathology
Royal Children's Hospital
Murdoch Children’s Research Institute
La Trobe University
Melbourne, Australia


Contributors
Professor Graham J Roberts, BDS
PhD FDSRCS MDS MPhil
ILTM
Consultant and Professor in Paediatric
Dentistry
The Eastman Dental Hospital
University College Hospitals London
and King's College London
London, UK
Dr Sushmita Roy, MBBS DCH
MRCP MSc
Consultant Paediatrician
Calcutta Medical Research Institute
and Institute of Child Health
Calcutta, India

Ms Martina Ryan
Specialist Speech & Language
Therapist
Dysphagia Team – Team Leader
Speech & Language Therapy
Department
Great Ormond Street Children
Hospital for Children NHS Trust
London, UK
Dr Neil J Sebire, MBBS BClinSci
MD DRCOG MRCPath
Consultant Paediatric Pathologist
Great Ormond Street Children
Hospital for Children NHS Trust
London, UK
Dr Debbie Sell, PhD, Cert.
MRCSLT, FRCSLT
Lead SLT, North Thames Regional
Cleft Lip and Palate Service
Head of Speech and Language Therapy
Department
Honorary Senior Lecturer – UCL
Institute of Child Health and Great
Ormond Street Children Hospital
for Children NHS Trust
London, UK
Ms Caroleen Shipster
Specialist Speech & Language
Therapist
Craniofacial Team – Team Leader

Speech & Language Therapy
Department
Great Ormond Street Children
Hospital for Children NHS Trust
London, UK
Dr Peter K Smith, BMedSci MBBS
FRACP PhD
Associate Professor and Consultant
Paediatric Allergist
Bond University, Gold Coast,
Queensland, Australia
Professor Owen P Smith, MA MB
BA FRCPCH FRCP FRCPI
FRCPath
Consultant Paediatric Haematologist
Our Lady's Hospital for Sick Children,
and St James's Hospital Dublin
Professor of Haematology, Trinity
College Dublin, Ireland

Mr Brian C Sommerlad, FRCS
Consultant Plastic Surgeon
Great Ormond Street Children
Hospital for Children NHS Trust
London, UK
Professor Lewis Spitz, MBChB PhD
MD(Hon) FRCS FAAP(Hon)
FRCPCH
Nuffield Professor of Paediatric
Surgery

UCL Institute of Child Health
London, UK
Professor Stephan Strobel, MD PhD
FRCP FRCPCH
Director of Clinical Education,
Peninsula Postgraduate Health
Institute
Professor of Paediatrics and Clinical
Immunology and Consultant
Paediatric Immunologist,
Plymouth Hospitals NHS Trust
Plymouth, UK
Dr Richard S Trompeter, MB FRCP
FRCPCH
Consultant Paediatric Nephrologist
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr William G van’t Hoff, BSc MD
FRCPCH
Consultant Paediatric Nephrologist
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Colin E Wallis, MD FRCPCH
Respiratory Paediatrician
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Dr Bruce Whitehead, MD MPhil

FRACP FRCP FRCPCH
Paediatric Respiratory & Sleep
Specialist
Kaleidoscope John Hunter Children's
Hospital
New Lambton, New South Wales,
Australia
Dr Callum J Wilson, FRACP
Metabolic Consultant
Starship Children's Hospital
Auckland, New Zealand
The late Professor Robin M Winter,
BSc FRCP PhD
Previously Professor of Clinical
Genetics & Dysmorphology
UCL Institute of Child Health
London, UK

11
Dr Paul JD Winyard, MA MRCP
PhD
Senior Lecturer in Paediatric
Nephrology
Nephro-Urology Unit
UCL Institute of Child Health
London, UK
Dr Jackson YW Wong, MBBS DCH
MRCP FRCPCH FHKAM
FHKCPaed
Locum Consultant Respiratory

Paediatrician
Department of Respiratory Medicine
Bristol Royal Hospital for Children
Bristol, UK
Professor Pat Woo, CBE BSc MBBS
PhD FRCP FRCPH FMedSci
Professor of Paediatric Rheumatology
Great Ormond Street Hospital for
Children NHS Trust
London, UK
Mr Victor J Woolf, MBBS FRCS
Consultant Orthopaedic Surgeon
North Middlesex University Hospital
NHS Trust
London, UK


12

FOREWORD
Dr Charles West was the inspiration behind the first ever children’s hospital in the
United Kingdom, known as Great Ormond Street. The hospital opened its doors on
14 February 1852 with just 10 beds. The hospital’s neighbour, who was a friend of
Charles West, was none other than Charles Dickens, one of Britain’s leading novelists.
Charles Dickens was one of its first celebrity supporters and wrote a powerful article
in his popular magazine ‘Household Words’ to publicise the hospital when it opened.
Great Ormond Street Hospital for Children is now one of the most famous children’s
hospitals in the world. The hospital receives referrals from a huge population, not only
from London and the South East of England, but also from further afield in the United
Kingdom and indeed, internationally. The staff of Great Ormond Street Hospital

comprise experts in the whole range of child health, including all fields of paediatric
medicine and surgery.
A major part of this accumulated experience is brought together in this wonderful
compendium of paediatric practice and child health. It has been designed with the
clinician in mind and is an effective and practical tool, useful to anyone caring for sick
children. It will provide a valuable reference source for general practitioners, general
paediatricians, community paediatricians and students of medicine of all ages.
Due to the hospital’s excellent department of clinical photography and medical
illustration, this book exceeds any other paediatric atlas in the comprehensive nature
of its illustrations. The specialists of the hospital have immense teaching responsibilities
and, over the years, they have utilised their resources to build up what I believe is an
unrivalled collection of over 1100 illustrations and photographs. These show the
presentation of both common and less common children’s illnesses and their progress,
as well as illustrating normal appearances. This latter point is important, because so
often the task is to reassure oneself and the family concerned what is normal.
It is no easy task to bring together such a large number of authors and such a huge
amount of material into an easily accessible and digestible form. I think the authors
and editors have succeeded in this extremely difficult task that they set themselves, and
that this book will be on and off a large number of bookshelves all over the world over
the next few years.
I personally wish all the authors and editors success with what I believe is an excellent
paediatric handbook. I look forward to using this and subsequent editions in the future.

Sir Cyril Chantler
Chairman
Great Ormond Street Hospital


13

PREFACE
This Colour Handbook comprises concise text and clinical photographs covering the
full spectrum of childhood diseases. It is the culmination of many years of hard work
and we hope the final product will be well accepted and used for many years to come.
The book encompasses every paediatric medical and surgical specialty. The number of
authors (73) testifies to the scope and extent of the text. Most of the authors either
trained at Great Ormond Street Hospital NHS Trust or are current or past consultants
at the Trust. Others have been co-opted to provide expertise in their special area of
interest. One of us, Stephen Marks, was brought into the editorial team at a relatively
late stage. He has provided the additional impetus to drive the project forward to its
completion.
Special thanks are due to Patrick Daly and latterly to Ayala Kingsley for coordinating
the contributions, and to Michael Manson and his team for their patience and
forbearance.
We hope the book will be used not only in medical libraries and personal collections
but will be freely accessible on paediatric wards and in general practice, for use by
medical and nursing staff. The book aims to inform all of us who care professionally
for children, and to help explain to parents the details of their child's condition and
the help which is available.

The Editors
London


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Chapter One

Emergency

Medicine
David Inwald
Andy Petros
Mark Peters
INTRODUCTION

ANAPHYLAXIS

A simple, structured approach to an acutely ill
child has been the focus of the recent initiatives
of Advanced Paediatric Life Support (APLS),
Paediatric Advanced Life Support (PALS) and
European Paediatric Life Support (EPLS)
courses.
The advantages of this structured approach
are clear: clinical problems are addressed in
order of urgency and the chances of significant
omissions are reduced. In all acutely ill children
the A airway, B breathing and C circulation
should be assessed (and supported if inadequate) before a more detailed assessment is
undertaken.
This chapter will outline the emergency
management of the most common conditions
requiring treatment in paediatric practice. In
contrast to the APLS/EPLS approach we
include details of ongoing care. This does not
mean to distract from the vital importance of
the initial assessment and resuscitation. All
readers involved in the care of acutely unwell
children are encouraged to train in

APLS/EPLS.

Anaphylaxis is a type I hypersensitivity reaction
triggered by crosslinking of IgE on mast cells. It
occurs when enough antigen enters the systemic
circulation to activate circulating basophils and
tissue mast cells. This results in the release of
inflammatory mediators, particularly histamine,
prostaglandins and leukotrienes. These mediators cause massive peripheral vasodilation
(cardiorespiratory arrest, shock), increased
vascular permeability (angiooedema, airway
obstruction and urticaria), intense contraction
of non-vascular smooth muscle (bronchoconstriction), abdominal pain, nausea, vomiting
and tachycardia. Anaphylaxis may be due to
drugs, insect stings (1.1), foods, plants,
chemicals or latex.

1.1 Severe anaphylaxis in a 11-month-old baby
caused by bee stings with oedematous eyelids
and lips, wheeze and shock.

15


16

Emergency Medicine
Anaphylaxis may progress slowly or rapidly
and may range from a mild cutaneous reaction
to circulatory arrest.

RECOGNITION
Clinical assessment should include rapid
physical examination, with attention to airway,
breathing and circulation, measurement of
peak expiratory flow rate (PEFR) in children
able to perform the technique and pulse
oximetry. Children should be examined for
generalized oedema, angiooedema, erythematous rash and urticaria (1.2) and a history
taken for substance exposure (with particular
reference to drugs or foodstuffs).
IMMEDIATE MANAGEMENT
Mild anaphylaxis
Mild reactions such as urticaria (1.2) should
respond to treatment with antihistamines and
steroids. Drug treatment should be followed
by a period of observation to ensure a more
serious response does not occur.

Severe anaphylaxis
Patients should be treated with high flow oxygen,
artificial ventilation and cardiac massage if
necessary. If stridor is present, airway angiooedema is likely and senior anaesthetic assistance
should be summoned to secure the airway.
Intramuscular adrenaline should be administered
as soon as possible in anaphylactic shock (doses
given below). The intravenous route should be
reserved for extreme emergency when there is
doubt as to the adequacy of the circulation.
The dose for intravenous epinephrine is
10 micrograms/kg (0.1 mL/kg of the dilute 1

in 10,000 epinephrine injection) by slow intravenous injection. However, when intramuscular
injection might succeed, time should not be
wasted seeking intravenous access. Adrenaline
doses may be repeated at 5-minute intervals if
necessary. Hypotension in anaphylaxis is due to
vasodilatation and capillary leak and resuscitation
with colloid is necessary to restore circulation.
Steroids and antihistamines should be given and
if the patient’s condition is not stable an adrenaline infusion should be commenced. Bronchospasm, if present, may resond to adrenaline and
steroids. If mechanical ventilation is necessary, a
slow rate and long expiratory time should be
used to allow full expiration to occur. Refractory
bronchospasm should be treated as severe asthma
(see also ‘Respiratory Medicine’ chapter).

Table 1.1 Dose of intramuscular injection of
adrenaline for anaphylactic shock
Under 6 months: epinephrine 50 micrograms
(0.05 ml of adrenaline 1 in 1,000 (1 mg/ml)
6 months to 6 years: epinephrine 120 micrograms
(0.12 ml of epinephrine 1 in 1,000 (1 mg/ml)
6–12 years: epinephrine 250 micrograms (0.25 ml of
epinephrine 1 in 1,000 (1 mg/ml)
Adult and adolescent: epinephrine 500 micrograms
(0.5 ml of epinephrine 1 in 1,000 (1 mg/ml)

1.2 Urticarial rash in a child presenting with
mild anaphylaxis caused by food allergy. If no
other features are present this can be safely
treated with antihistamines and allergen

avoidance.


Upper airway obstruction
FOLLOW UP
The causative allergen may be identified by
taking a careful history. Further investigation
may include skin prick testing (SPT). Radioabsorbent assays (RAST) for specific IgE is
often performed but 50% of those with positive
SPT/RAST will have no symptoms and 50% of
those with confirmed allergy will have negative
SPTs. The gold standard test for diagnosis of
food allergy remains the food challenge. This
should be carried out in a centre with adequate
resuscitation facilities.
Any child who has had a serious reaction to
peanuts should avoid all peanut products
including oil. Peanuts are legumes and, although
it is uncommon for patients to react to other
legumes, cross-reactivity with tree nuts can
occur. Peanut sensitive individuals should be
introduced to these singly and with caution.
If there is evidence of a severe food or other
allergy, the findings should be clearly documented and explained to the patient. Management primarily consists of avoidance. However,
patients should also be instructed to carry a
hand held summary and to wear a warning
bracelet or necklace. Patients or parents of
children at risk of anaphylactic reactions to
foods, environmental allergens, chemicals, or
plants should carry injectable adrenaline at all

times and know how to use it in an emergency.

17

UPPER AIRWAY
OBSTRUCTION
See also ‘Respiratory Medicine’ chapter.
Stridor is an inspiratory noise related to
obstruction of the extrathoracic airway.
Dynamic intrathoracic airway obstruction can
also result in expiratory stridor in conditions
such as broncho- or tracheomalacia. Obstruction of the extrathoracic airway is most
commonly due to viral tracheitis (1.3) but also

1.3 A two-year-old child with viral tracheitis
intubated in the ICU. As the lungs are
unaffected he does not require mechanical
ventilation. A humidification device is attached
to the end of the tube to prevent secretions
drying in the airway.

1.4 Bacterial tracheitis in an 18-month-old
child who presented with a high pyrexia, shock
and stridor.


18

Emergency Medicine

1.5 and 1.6 Inspiratory (left) and expiratory (right) chest radiographs in a four-year-old child with
an inhaled peanut in the left main bronchus.Though foreign bodies usually cause occlusion of the
entire airway lumen and distal collapse, in this case the peanut is causing a ball-valve effect and the
left lung does not deflate on expiration.
of accessory muscles) and pulse oximetry.
Cyanosis, distress, exhaustion or oxygen
saturations of <92% in air are all signs of severe
obstruction and impending collapse. Children
with these signs may require urgent intubation
and ventilation and senior anaesthetic help
should be summoned. Children with milder
obstruction may require intravenous fluids in
addition to more specific management (see
below). The presence of a high fever in a toxic
looking child should raise the possibility of
bacterial tracheitis or epiglottitis. If the child is
stable, a brief history should be taken with regard
to recent coryzal illness (suggestive of viral
tracheitis), foreign body aspiration and haemophilus influenza immunization.
1.7 Nail in the left main bronchus.This will
require removal with a rigid bronchoscope.
Physiotherapy and flexible bronchoscopy are
contraindicated, as both may cause the foreign
body to slip further down the airway.

occurs in bacterial tracheitis (1.4), foreign
body aspiration (1.5–1.7) and other conditions
such as quinsy and epiglottitis. As these
conditions have very different management,
part of the assessment involves a process of

differentiation between them.
IMMEDIATE ASSESSMENT AND
MANAGEMENT
Initial assessment should include rapid physical
examination of the airway, breathing and
circulation, with particular attention to the work
of breathing (ie, respiratory rate, recession, use

INVESTIGATIONS
Radiological investigations are not routinely
required. Lateral neck x-rays are rarely helpful
and immediate management (including
intubation if necessary) is more important. A
lateral neck film and chest radiograph should
only be performed when the child is stable.
Laboratory investigations need only be
performed if intravenous access is required.
FURTHER MANAGEMENT
Bacterial tracheitis and viral tracheitis
Children with mild or moderately severe viral
tracheitis who do not require immediate
intubation should be commenced on steroids,
which have been shown to be of benefit in
randomized controlled trials. However, children
with bacterial tracheitis or severe viral tracheitis
occasionally require intubation. A senior anaesthetist should be called as the child will almost


Upper airway obstruction
certainly require inhalation anaesthesia. The use

of paralysing agents in this setting is not
recommended as when muscle tone is lost the
airway may completely obstruct. While waiting
for help nebulized adrenaline can be helpful in
reducing airway oedema, but this should only
be given in a high dependency area as reactive
hyperaemia with worsening obstruction can
occur when the nebulizer is completed. Children with suspected bacterial tracheitis (4) may
be septic and will require volume resuscitation
prior to intubation. They should also have blood
cultures sent and be commenced on antibiotics
with good Staphylococcus and Streptococcus cover
such as cefuroxime and flucloxacillin.
Foreign body
Aspiration of a foreign body (1.5–1.7) may
result in an asymptomatic child or cardiorespiratory collapse. Clearly, partial or complete
obstruction at the level of the larynx or trachea
may require urgent resuscitation. Again, senior
anaesthetic help should be summoned. It may
be possible to remove the foreign body at
laryngoscopy with a Magill’s forceps. If not,
urgent tracheostomy may be required as a
temporizing measure. A foreign body further
down the airway may cause partial or complete
obstruction of one or more major bronchi. A
chest radiograph may demonstrate areas of
hyperinflation or collapse, depending on the
degree of airway obstruction. If in any doubt,
inspiratory and expiratory films and the radiographic appearance of the pulmonary vascular
tree will help to determine which lung is abnormal. These children will need to be referred

to a specialist centre where rigid bronchoscopy
can be performed to remove the foreign body.
Other
Epiglottitis has become extremely rare since
the introduction of Haemophilus influenza
immunization. If it is suspected, however,
senior anaesthetic, ENT and paediatric advice
should be sought. The airway will require
securing, by tracheostomy if necessary, and the
child will need volume resuscitation and
antibiotic therapy with cefotaxime, which has
good Haemophilus spp. cover.
Quinsy (peritonsillar abscess) can often be
seen on a lateral neck radiograph and will
require incision and drainage, sometimes with
a period of airway support while postoperative
oedema settles.
Airway haemangiomas and tonsillar hypertrophy may require specific surgical management (1.8–1.10).

1.8 An airway haemangioma in a six-month-old
child who presented with stridor.These lesions
often present during viral lower respiratory
tract infections when they are unmasked by
additional airway swelling.The clue to the
diagnosis may be the presence of haemangiomas
elsewhere, 1.9.Treatment is with local or
systemic steroids.They usually regress at
around two years of age, but some infants
require a tracheostomy.

1.10 Gross tonsillar hypertrophy in a child
with recurrent tonsillitis and obstructive sleep
apnoea who presented with airway obstruction.
The airway must be secured before the tonsils
are removed at surgery.

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Emergency Medicine

20

ASTHMA
See also ‘Respiratory Medicine’ chapter.
Asthma is a chronic disease characterized by
reversible airflow obstruction, particularly in the
bronchi, with recurrent bouts of wheezing and
breathlessness. However, all that wheezes is not
asthma and important differential diagnoses of
acute severe asthma include foreign body
aspiration and bronchiolitis. Asthma has increased in prevalence over recent years and now
affects 10–20% of children in the UK. Acute
exacerbations of asthma represent 10–15% of all
acute medical admissions in children. About 20
children and about 1600 adults die in the UK
every year due to acute severe asthma. Common
factors leading to acute exacerbations include
viral respiratory infections, irritants, exercise, and
allergens.

RECOGNITION
Clinical assessment should include rapid
physical examination, with attention to airway,
breathing and circulation, measurement of
peak expiratory flow rate (PEFR) and pulse
oximetry (see box below). Routine blood gas
analysis is not recommended as arterial
puncture is painful and may cause acute
decompensation. Clinical assessment is more
useful than blood gas analysis. Assessment of
pulsus paradoxus is no longer recommended.

Recognizing asthma symptoms
Severe

Life-threatening

Age 1–5
• Tachycardia
• Flaring
• Accessory muscles
• Recession
• Head retraction
• Unable to feed

• Cyanosis
• Silent chest
• Fatigue
• ↓ Conscious level

Age >5
• Tachycardia
• Accessory muscles
• Recession
• PEFR <50% best

• Cyanosis
• Unable to speak
• Silent chest
• Fatigue
• ↓ Conscious level
• PEFR <33% best

IMMEDIATE MANAGEMENT
Severe asthma without life-threatening features
should be treated with high-flow oxygen,
nebulized salbutamol and ipratropium bromide, and oral steroids. Salbutamol and ipratropium can safely be given continuously until
improvement has occurred, when the dose
frequency can be reduced. Oxygen should be
given before, during and after administration
of inhaled bronchodilators, to avoid hypoxaemia. The safest way to do this is via an
oxygen driven nebulizer rather than a holding
chamber.
If life-threatening features are present, senior
help and an experienced anaesthetist should be
summoned. In the meantime the airway should
be maintained, oxygen should be administered
by a rebreathing mask and intravenous access
secured for administration of steroids and
bronchodilators. Proven effective intravenous

bronchodilators include bolus salbutamol,
aminophylline, and magnesium sulphate. These
should be given with cardiac monitoring, as
salbutamol and aminophylline can cause
arrhythmias.
INVESTIGATIONS
A chest radiograph should be obtained after
initial stabilization in any child with features of
severe or life threatening asthma, or with a first
episode of wheeze, to exclude a foreign body,
pneumothorax and mucus plugging (1.11–
1.13). Routine chest radiographs in all cases of
acute asthma are not necessary.
INDICATIONS FOR VENTILATORY
SUPPORT
• Patients who are tired.
• Those with a reduced conscious level.
• Those who continue to deteriorate despite
maximal therapy.
Blood gas analysis is not a substitute for clinical
assessment and the focus should remain on the
clinical state of the patient.
Intubation
The patient should be pre-oxygenated and
10–20 mls/kg colloid given electively. Patients
with acute severe asthma are often volume
depleted and vasodilated. Ketamine (which has
some bronchodilator activity) is a useful
induction agent.

Asthma

1.11 Plugging of the left lingular bronchus in
acute severe asthma in an eight-year-old girl.
The left heart border is indistinct but the left
diaphragm is clearly seen.

1.13 Acute severe asthma in a 13-year-old
child.The lungs were grossly hyperinflated but
there is no evidence of a pneumothorax.This
child was ventilating at the top of his functional
residual capacity and had little reserve.

1.12 The plug seen in 1.11 was expectorated
after bronchodilators were given.

21


Emergency Medicine

22

Ventilation strategies
High airway resistance may lead to a very
prolonged expiratory phase during artificial
ventilation, and slow ventilation rates may be
required (10–15 breaths per min). Blood gases
should not be normalized and very high PaC02

values may be tolerated without harm
(‘permissive hypercapnia’) provided the pH
remains >7.2. Some PEEP is necessary to
counteract intrinsic PEEP. Neuromuscular
paralysis should be discontinued as soon as
possible as the combination of steroids and
paralysing agents is associated with an increased
risk of critical illness neuropathy.

WHILE VENTILATED
Key in the management are generous
humidification and physiotherapy to mobilize
secretions and mucus plugs (1.11, 1.12).
Drug treatment can include continued neuromuscular paralysis, ketamine by continuous
infusion (for both sedative and bronchodilator
effect) and intravenous bronchodilators such as
salbutamol and aminophylline. Some inhalational anaesthetic agents also have some
bronchodilator activity. Heliox (a mixture of
oxygen and helium with a lower density than
air) has been used to ventilate patients with
very high airway resistance. Weaning from
mechanical ventilation can be difficult.

Table 1.2 Common errors in resuscitation and subsequent management of asthma

Common errors

Action

• Failure to give high-flow oxygen to children

with severe or life threatening features.

Nebulize salbutamol and ipratropium with high-flow
oxygen. Give high-flow oxygen before and after nebulizers.
DO NOT use a holding chamber (spacer).

• Frequent blood gas analysis or examination
for pulsus paradoxus.

Focus on clinical state of child.
Pulse oximetry is a useful adjunct.

• Failure to recognize hypovolaemia.

Ensure adequate volume resuscitation prior to
intubation.

• Intubation and ventilation not initiated
until cardiorespiratory arrest.

Consider semi-elective intubation and ventilation in
presence of:
• Decreased conscious level
• Exhaustion
• Worsening respiratory failure.