Great Ormond Street handbook of paediatrics

737 Pages·2016·250.893 MB·English

by  Hospital for Sick Children (London, England), Marks, Stephen D., Spitz, Lewis, Strobel, Stephan

Great Ormond
Street Handbook of
Paediatrics
Second Edition

Great Ormond
Street Handbook of
Paediatrics
Second Edition
Edited by
Stephan Strobel
MD, PhD, MRCP(Hon), FRCP, FRCPCH
Honorary Professor of Paediatrics and Clinical Immunology
University College London Institute of Child Health, London
Lewis Spitz
MBChB, PhD, MD(Hon), FRCS(Edin), FRCS(Eng), FAAP(Hon), FRCPCH, FACS(Hon)
Emeritus Nuffield Professor of Paediatric Surgery
Great Ormond Street Hospital for Children NHS Foundation Trust
and University College London Institute of Child Health, London
Stephen D. Marks
MD, MBChB, MSc, MRCP(UK), DCH, FRCPCH
Consultant Paediatric Nephrologist
Great Ormond Street Hospital for Children NHS Foundation Trust
and University College London Institute of Child Health, London
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Contents
Foreword .................................xiii CHAPTER 3 Preschool wheeze .....................83
Contributors .............................xv Infectious Diseases Asthma .....................................85
Abbreviations ...........................xix Bacteria .................................43 Bronchiolitis .............................87
Diphtheria ................................43 Pneumonia ...............................88
CHAPTER 1 Tetanus ....................................44 Empyema .................................90
Emergency Medicine Meningococcal infections .........45 Non-CF bronchiectasis .............91
Introduction ..............................1 Tuberculosis .............................47 Interstitial lung disease .............93
Upper airway obstruction ...........1 Tuberculous meningitis ............48 Chronic aspiration ....................95
Anaphylaxis ................................4 Non-tuberculous mycobacterial Pneumothorax..........................96
Asthma .......................................5 infections .............................49 Pierre Robin sequence ..............98
Bronchiolitis ...............................7 Cat-scratch disease ...................50 Pulmonary agenesis, aplasia
Cardiac emergencies ................8 Lyme disease ............................52 and hypoplasia. .....................98
Cyanosis .....................................8 Pyogenic liver abscess ...............53 Scimitar syndrome....................99
Cardiogenic pulmonary oedema ...9 Staphylococcal toxic shock Congenital pulmonary airway
Cardiogenic shock ......................9 syndrome .............................54 malformations ......................99
Arrhythmias .............................11 Tularaemia ...............................55 Lung transplantation ..............103
Acute encephalopathic illness...11 Viruses ..................................56 Further reading ......................106
Convulsive status epilepticus ....11 HIV infection and AIDS. .........56
Other encephalopathic illness ...12 Congenital cytomegalovirus .....60 CHAPTER 5
Diabetic ketoacidosis ................15 Infectious mononucleosis .........61 Cardiology
Acute respiratory distress Measles .....................................62 Developmental cardiology ......109
syndrome .............................16 Neonatal herpes simplex virus ....63 Cardiac assessment ..................110
Sepsis .......................................18 Varicella (chicken pox) ..............64 Congenital heart disease ......113
Trauma..................................19 Herpes zoster (shingles)............65 Ventricular septal defect ..........115
Traumatic brain injury..............19 Protozoa/fungi/ Patent ductus arteriosus ..........116
The child with multiple injuries ...21 tropical diseases/ Pulmonary stenosis.................117
Burns .......................................23 miscellaneous ....................66 Coarctation of the aorta .........118
Poisoning .................................24 Congenital toxoplasmosis .........66 Atrial septal defect ..................119
References/further reading ......25 Cryptosporidiosis .....................67 Fallot tetralogy .......................121
Cysticercosis Aortic stenosis ........................122
CHAPTER 2 (neurocysticercosis) ..............68 Transposition of the great
Child Protection Invasive aspergillosis .................69 arteries ...............................123 C
o
Introduction ............................27 Neonatal systemic candidiasis ...71 Hypoplastic left heart .............124 n
Types of abuse and neglect .......29 Malaria .....................................72 Atrioventricular septal defect ...125 te
Paediatric assessment of Schistosomiasis (urinary) ..........73 Other cardiac lesions ...........126 nt
a child with suspicion of Visceral leishmaniasis Total anomalous pulmonary s
maltreatment ........................31 (Kala-azar) ............................74 venous drainage ................126
Physical abuse ...........................32 Kawasaki disease ......................75 Tricuspid atresia .....................126
Neglect.....................................36 Further reading ........................77 Double inlet left ventricle .......126
Sexual abuse .............................37 Pulmonary atresia with an
Other considerations in child CHAPTER 4 intact septum ....................127
protection ............................39 Respiratory Medicine Pulmonary atresia with a VSD . ..127
What to do when abuse is Cystic fibrosis ...........................79 Ebstein anomaly .....................127
suspected .............................40 Chronic lung disease of Interrupted aortic arch and
Further reading ........................41 prematurity ..........................81 truncus arteriosus ..............127
v
Congenitally corrected Eczema herpeticum ................150 Pupil anomalies ...................174
transposition ......................127 Generalised pustular psoriasis ...150 Leukocoria ..............................174
Vascular ring and sling ...........128 Malignant skin conditions ......150 Dyscoria ..................................174
Heart muscle disease ...........129 Further reading .......................151 Miosis .....................................174
Dilated cardiomyopathy .........129 Mydriasis .................................174
Myocarditis ............................129 CHAPTER 7 Corectopia..............................175
Pericarditis .............................129 Ophthalmology Anisocoria ..............................175
Hypertrophic cardiomyopathy ...129 Anatomy of the eye ................153 Lens anomalies ....................176
Restrictive cardiomyopathy ....129 Visual development ................155 Aphakia ...................................176
Arrhythmogenic right Lids .....................................156 Abnormal shape ......................176
ventricular cardiomyopathy ...129 Ablepharon.............................156 Dislocated lens ........................176
Endocarditis ...........................130 Cryptophthalmos ...................156 Lens opacity ...........................177
Kawasaki disease ...................130 Coloboma ..............................156 Retinal anomalies ................178
Arrhythmias ...........................130 Epicanthus .............................156 Haemorrhages ........................179
Heart transplantation .............132 Entropion ...............................156 Hard exudates ........................179
Further reading ......................132 Ectropion ................................157 Cotton wool spots ..................180
Symblepharon .........................157 Retinal neovascularisation ......180
CHAPTER 6 Blepharitis ...............................157 Retinal vasculitis ....................180
Dermatology Stye .........................................157 Foveal hypoplasia ...................180
Vascular lesions – tumours ...133 Molluscum contagiosum ........158 Maculopathy ...........................181
Infantile haemangioma ...........133 Capillary haemangioma ..........158 Coloured macular lesions ........181
Rare vascular tumours ............134 Port wine stain .......................159 Pale retinal lesions ..................182
Vascular lesions – Ptosis .....................................159 Non-inflammatory lesions ......182
malformations .................134 Lid retraction .........................160 Retinal detachment ................184
Capillary malformations .........134 Preseptal cellulitis ...................160 Folds in the fundus ................185
Venous malformations ............135 Lid lag .....................................161 The optic disc ......................185
Arteriovenous malformations ...136 The watering eye .....................161 Optic disc swelling .................185
Pigmentary lesions ..............136 Cornea – developmental Optic atrophy .........................186
Postinflammatory pigmentary disorders .........................161 Small optic disc ......................187
changes ..............................136 Microcornea ............................161 Large optic disc .....................187
Vitiligo ...................................136 Cornea plana ...........................161 Large optic disc cup ...............188
Hypomelanotic macules .........137 Megalocornea .........................162 Optic disc vascular
Pigmentary mosaicism ............137 Keratoconus ...........................162 abnormalities .....................188
Café-au-lait macules ...............137 Congenital corneal Optic disc haemorrhages ........188
Congenital melanocytic naevi ...138 opacification .......................163 Lesions obscuring the optic
Blistering conditions ...........139 Corneal dystrophies ...............164 disc ....................................188
Epidermolysis bullosa .............139 Posterior embryotoxon ...........165 The orbit .............................189
Immunobullous disorders ......139 Corneal deposits .....................165 Abnormalities of globe
Inflammatory conditions .....140 Keratitis .................................165 position ..............................189
Eczema...................................140 Conjunctiva .........................167 Lacrimal gland enlargement ....191
Morphoea (localised Infection-related Eye movement disorders ......191
scleroderma) ........................141 conjunctivitis .....................167 Ocular deviation in primary
Psoriasis ..................................141 Non infection-related gaze ....................................191
Lumps and bumps ...............142 conjunctivitis......................168 Anomalous eye movements.....194
Anogenital warts ....................142 Conjunctival pigmentation .....168 Abnormal head positions ........196
Molluscum contagiosum ........142 Elevated conjunctival lesions ....169 Nystagmus .............................197
Sebaceous naevus ....................143 Diffusely elevated conjunctival Further reading ......................198
Aplasia cutis ............................143 lesions ..................................169
Other important conditions ...144 Sclera ..................................170 CHAPTER 8
Acrodermatitis enteropathica ...144 Pigmentation of the sclera ......170 Neurology
ts Incontinentia pigmenti ...........144 Scleral inflammation ...............170 Neurological examination:
n
e Cutaneous mast cell disease .....145 Developmental anomalies cranial nerves ..................199
nt Ichthyosis ...............................146 of the globe .....................170 The eye ................................199
o Linear epidermal naevi ............147 Nanophthalmos ......................170 Ptosis .....................................200
C
Ectodermal dysplasia ...............147 Simple microphthalmos ..........170 Myasthenia .............................202
Paediatric dermatological Complex microphthalmos ......171 Disorders of eye movement ...203
emergencies .....................148 Anophthalmia ........................171 Third nerve palsy ....................203
Stevens–Johnson syndrome and Iris ......................................172 Fourth nerve palsy ..................203
toxic epidermal necrolysis .....148 Congenital iris defects ............172 Sixth nerve palsy ....................203
Staphylococcal scalded skin Acquired iris defects ...............172 Ophthalmoplegia ...................203
syndrome ...........................149 Changes in iris colour .............173 Upward gaze palsy .................203
Collodion baby and harlequin Leukaemia/lymphoma ...........173 Lateral gaze palsy ...................203
ichthyosis ...........................150 Heterochromia irides ..............173 Facial palsy ..........................205
vi
Lower motor neuron facial CHAPTER 9 Alagille syndrome...................290
palsy ...................................205 Gastroenterology Mineral disorders (deficiencies,
Upper motor neuron facial Clinical presentation ...........251 high level poisoning) .........290
palsy ...................................206 Acute gastroenteritis ...............251 Zinc deficiency .......................290
Lower cranial nerve Faltering growth/failure to Iron deficiency........................291
abnormalities .....................207 thrive .................................253 Copper deficiency ...................292
Motor system ......................208 Constipation ..........................253 Copper excess: Wilson disease ...292
Pyramidal disorders ............209 Infantile colic .........................255 Selenium deficiency ................293
Extrapyramidal disorders ....209 Recurrent abdominal pain ......255 Vitamin deficiencies ................293
Wilson disease .........................210 Toddler’s diarrhoea ................256 Scurvy, vitamin C/ascorbic
Sydenham chorea and other Chronic intractable diarrhoea ...256 acid deficiency ....................293
poststreptococcal movement Chronic intestinal failure ........259 Beriberi, vitamin B/thiamin
1
disorders ..............................210 Gastrointestinal diagnoses ...260 deficiency ...........................293
Anti-N-methyl-D-aspartate Fabricated and induced illness ...260 Pellagra, niacin deficiency .......294
receptor (NMDAR) Coeliac disease .......................261 Riboflavin/vitamin B
2
encephalitis .........................211 Food allergic enteropathy .......262 deficiency .............................294
Sandifer syndrome ...................211 Autoimmune enteropathy .......263 Pyridoxine/vitamin B
6
Segawa syndrome (DOPA- Eosinophilic gastrointestinal deficiency ...........................295
responsive dystonia) ............211 disease .............................264 Cyanocobalamin/vitamin B
12
Ataxia .....................................213 Eosinophilic oesophagitis .......264 deficiency ...........................295
Ataxia telangiectasia ................214 Eosinophilic enteropathy ........265 Vitamin K/napthaquinone
Friedreich ataxia ......................215 Eosinophilic disease of the deficiency ...........................295
Acute generalised weakness in colon (EDC) allergic Retinol/vitamin A deficiency ...295
a previously well child .........215 colitis ...............................265 Tocopherol/vitamin E
Guillain–Barré syndrome ........217 Classic inflammatory bowel deficiency ...........................296
Dermatomyositis .....................217 disease .............................266 Vitamin D deficiency ..............296
Spinal cord disorders ...............217 Ulcerative colitis .....................266 Further reading ......................297
Hypotonia in infancy. ..............218 Crohn disease .........................267
Myotonic dystrophy (DM1) .....219 Lymphangiectasia ...................270 CHAPTER 10
Spinal muscular atrophy (SMA) Ulcers ..................................270 Renal Diseases
type 1 (Werdnig–Hoffman Gastric ulcer ...........................270 Acute kidney injury ................299
disease) ..............................220 Duodenal ulcers .....................271 Haemolytic uraemic syndrome ...300
Spinal muscular atrophy Polyps .................................271 Glomerulonephritis ................302
(SMA) type 2 and type 3 ....221 Isolated inflammatory/juvenile IgA vasculitis ...........................304
Chronic and progressive polyp ..................................271 Nephrotic syndrome ...............305
weakness in the older child ...221 Juvenile polyposis syndrome ...272 Chronic kidney disease ...........308
Duchenne/Becker muscular Familial polyposis coli and Cystic kidney diseases .............309
dystrophy ...........................224 Gardner syndrome .............272 Congenital anomalies of
Hereditary motor and sensory Peutz–Jegher syndrome ..........273 the kidney and urinary
neuropathy (CMT).............224 Infections and infestations ...273 tract ..................................310
Cerebral palsy .........................225 Bacterial enteric infections ......273 Vesicoureteric reflux ...............312
Spina bifida ............................226 Feeding difficulties .................277 Renovascular hypertension ......313
Headaches...............................227 Gastro-oesophageal reflux ......278 Renal Fanconi syndrome .........314
Migraine ................................227 Cyclical vomiting ...................279 Further reading .......................315
Psychogenic headaches ...........228 Intestinal pseudo-obstruction ...280
Intracranial hypertension .......228 Short bowel syndrome ............281 CHAPTER 11
Idiopathic intracranial Congenital and inherited Haematology
hypertension (‘benign’ disorders .........................282 Non-Hodgkin lymphoma ........317
intracranial hypertension, Congenital chloride diarrhoea ...282 Haematological disorders
pseudotumour cerebri) .......229 Glucose–galactose and Down syndrome .......320
Macrocephaly .........................230 malabsorption ....................282 Transient myeloproliferative C
o
Hydrocephalus .......................230 Sucrose–isomaltase deficiency ...283 disorder ..............................320 n
Brain tumours ........................233 Lactose malabsorption............283 Myeloid leukaemia and DS ....321 te
Learning difficulties ...............235 Pancreatic disease ................284 Acute lymphoblastic leukaemia n
t
Epilepsy ..................................237 Cystic fibrosis .........................284 and DS ..............................322 s
Neurological and cognitive Shwachman–Bodian–Diamond Acute promyelocytic leukaemia
deterioration ......................240 syndrome ...........................285 and thrombosis ..................322
Common conditions with Acute pancreatitis ...................286 Congenital (monocytic
neurological deterioration ...240 Chronic pancreatitis ...............287 and myelomonocytic)
Coma and acute Liver disease ........................288 leukaemia .........................323
encephalopathies ................243 Primary sclerosing cholangitis ...288 Ophthalmic extramedullary
Stroke .....................................246 Chronic hepatitis ....................289 leukaemic deposits..............325
Further reading ......................250 Acute hepatitis........................289 Granulocytic sarcoma .............325
vii
Hypopyon ..............................325 Tumours of the central Hypercalcaemia ......................413
Severe aplastic anaemia ...........326 nervous system ................369 Williams syndrome .................413
Juvenile myelomonocytic Ependymoma .........................369 Further reading .......................414
leukaemia ...........................327 Medulloblastoma/PNET .......369
Paediatric myelodysplastic High-grade supratentorial CHAPTER 14
syndromes .........................329 glioma ................................370 Metabolic Diseases
Fanconi anaemia .....................331 Brainstem glioma ...................371 Adrenoleukodystrophy ...........417
Dyskeratosis congenita and Low-grade astrocytoma ..........371 Gaucher disease ......................418
TINF2 mutations ...............332 Rare tumours ......................372 Hurler disease, MPS I ...........419
Hypereosinophilic syndrome Thyroid carcinoma .................372 Sanfilippo syndrome, MPS III ...420
and T(5;12) ........................333 Nasopharyngeal carcinoma .....373 Morquio syndrome, MPS IV ...421
Acute febrile neutrophilic Adrenocortical carcinoma ........374 Homocystinuria – classical and
dermatosis – Sweet Renal cell carcinoma ................374 secondary to remethylation
syndrome ...........................334 Late effects of cancer disorders ............................422
Myelofibrosis and systemic treatment ...........................375 Wolman/cholesterol ester
lupus erythematosus ...........335 Further reading ......................376 disease ................................423
Infant megaloblastic anaemia: Fructose 1, 6-bisphosphatase
transcobalamin II CHAPTER 13 deficiency ..........................423
deficiency ..........................336 Endocrinology Neuronal ceroid lipofusinoses ...424
Congenital erythropoietic The short child ....................377 Urea cycle disorders ...............424
porphyria ...........................337 Growth hormone deficiency/ Galactosaemia ........................425
Kasabach–Merritt syndrome ...338 insufficiency .......................378 Fatty acid oxidation defects ....426
Thrombocytopenia absent Laron-type dwarfism ..............380 Disorders of ketone body
radius .................................339 Low birth weight syndrome ...381 metabolism ........................428
Bernard–Soulier syndrome .....340 Turner syndrome ....................382 Tyrosinaemia ..........................428
von Willebrand disease ...........340 Prader–Willi syndrome ...........383 Glycogen storage disease
Severe haemophilia A and B Skeletal dysplasias ...................384 type I .................................429
(classic haemophilia and The tall child .......................386 Peroxisomal biogenesis
Christmas disease) ..............340 Marfan syndrome ...................386 disorders ............................430
Red cell membrane Pituitary gigantism .................387 Leigh syndrome ......................431
abnormalities ...................342 Late puberty ........................388 Pyruvate dehydrogenase
Hereditary elliptocytosis .........342 Klinefelter syndrome ..............388 deficiency ...........................432
Hereditary spherocytosis ........342 Early puberty ......................390 Pyruvate carboxylase
Beta-thalassaemia major .........343 Premature thelarche/thelarche deficiency ...........................434
Sickle cell disease ...................344 variant or ‘benign’ precocious Menke disease ........................435
Glucose-6-phosphate puberty ................................391 Phenylketonuria .....................436
dehydrogenase deficiency ...345 Gonadotrophin-dependent Biotin disorders ......................437
Pyruvate kinase deficiency ......346 (central) precocious puberty ...392 Glutaric acidaemia type I ........438
Further reading ......................346 McCune–Albright syndrome ...393 GLUT 1 transporter
Polycystic ovarian disease .......394 deficiency...........................439
CHAPTER 12
Thyroid disorders ................395 Fabry disease ..........................440
Oncology
Congenital hypothyroidism ....395 Pompe disease ........................440
Introduction ..........................347 Acquired hypothyroidism .......397 Creatine deficiency disorders ...441
Renal tumours .......................348 Graves disease ........................398 Methylmalonic and
Liver tumours ........................351 Adrenal disorders ................399 propionic acidaemia
Langerhans cell histiocytosis ...353 Primary adrenal insufficiency ...399 (MMA, PA) .......................442
Rhabdomyosarcoma, other Cushing syndrome .................400 Neurotransmitter disorders
soft tissue sarcomas and
Ambiguous genitalia ..............402 (L-dopamine-responsive
fibromatosis ....................356
Congenital adrenal dystonia, tyrosine
Rhabdomyosarcoma ..............356
hyperplasia .........................403 hydroxylase deficiency,
ts Other soft tissue sarcomas ......359 Disorders of glucose pterin disorders) ..................443
n Neuroblastoma ...................360
e homeostasis .....................404 Sphingolipidosis disorders
nt Very low- and low-risk Hyperinsulinism .....................404 (Tay Sachs/Sandhoff/GM1/
o neuroblastoma ....................363 Type 1 diabetes mellitus .........406 Niemann–Pick/metachromatic
C Intermediate-risk
Type 2 diabetes mellitus .........408 dystrophy/Krabbe) ............443
neuroblastoma ....................363
Monogenic diabetes ...............409 Congenital disorders of
High-risk neuroblastoma ........364
Insulin resistance syndromes ...409 glycosylation .....................444
Retinoblastoma ......................364
Other forms of diabetes ..........410 Non-ketotic hyperglycinaemia
Ewing sarcoma and peripheral Disorders of calcium (glycine encephalopathy) ....445
primitive neuroectodermal metabolism ......................410 Smith–Lemli–Opitz syndrome ...446
tumour ..............................365 Rickets ...................................410 Hypercholesterolaemia ...........447
Osteosarcoma .........................366 Hypoparathyroidism/ Further reading ......................447
Extracranial malignant germ pseudohypoparathyroidism ...412
cell tumours ......................368
viii
CHAPTER 15 Albright hereditary osteodystrophy CHAPTER 17
Genetics (pseudohypopara thyroidism Rheumatology
Introduction ..........................449 type 1a) ..............................484 Introduction ..........................509
Common congenital Further reading ......................484 Juvenile idiopathic arthritis ...509
malformations ....................449 Systemic JIA ...........................509
Chromosome disorders ........450 CHAPTER 16 Polyarticular onset: rheumatoid
Chromosomes – structural Immunology (Primary factor (RF)-negative JIA .....510
abnormalities and Immunodeficiency Polyarticular onset:
imbalance ..........................450 Syndromes) RF-positive JIA .................. 512
Robertsonian translocation ....452 Background ............................485 Oligoarticular arthritis ........... 512
Chromosome mosaicism .........453 I Combined Enthesitis-related arthritis ......513
Trisomy 13 (Patau syndrome) ...453 immunodeficiencies .........488 Psoriatic arthritis .....................514
Trisomy 18 (Edwards Severe combined Arthritis associated with other
syndrome) ..........................454 immunodeficiency .............488 chronic diseases ...................515
Trisomy 21 (Down syndrome) ...455 Specific SCID sub-types ......491 Scleroderma ........................515
Turner syndrome, 45,X and Omenn syndrome (SCID Systemic sclerosis .....................515
variants ..............................456 variant) ...............................491 Localised scleroderma
Williams syndrome .................457 Adenosine deaminase (ADA) (morphoea) .........................516
22q11 deletion syndrome deficiency ...........................492 Juvenile dermatomyositis ........516
(DiGeorge syndrome) ........458 II Other well-defined Vasculitides .........................517
Single gene disorders ...........459 syndromes .......................492 Henoch Schönlein purpura
Autosomal dominant Wiskott–Aldrich syndrome .....492 (IgA vasculitis) ....................517
inheritance .........................460 Cartilage hair hypoplasia ........493 Kawasaki disease ....................518
Autosomal recessive Ataxia telangiectasia ..............494 Polyarteritis nodosa ................519
inheritance .........................461 III Thymic defects ...............495 Anti-neutrophil cytoplasmic
X-linked inheritance ...............462 DiGeorge syndrome ...............495 antibody-associated
Mitochondrial conditions and IV Antibody deficiency vasculitides .........................521
inheritance .........................463 syndromes .......................496 Takayasu arteritis ...................524
Genetic syndromes with cardiac Common variable Systemic lupus erythematosus ...525
malformation as a major immunodeficiency ..............496 Overlap connective tissue
feature ................................464 X-linked agamma globulinaemia disease ...............................526
The floppy baby ...................465 (Bruton disease) .................497 Chronic recurrent multifocal
Prader–Willi syndrome ...........465 Hypogammaglobulinaemia osteomyelitis .....................526
Myotonic dystrophy with hyper-IgM (class-switch Periodic fever syndromes/
(myotonic dystrophy recombination [CSR] defects) autoinflammatory
type 1) ..............................466 (including CD40 ligand diseases .......................... 527
Syndromes associated with deficiency) ..........................498 Introduction .......................... 527
features of a connective V Hyper-IgE syndromes ......499 Familial Mediterranean fever ...527
tissue disorder .................466 Autosomal dominant hyper- Tumour necrosis factor
Children with severe IgE syndrome ...................499 receptor-associated periodic
developmental delay .........468 Autosomal recessive hyper-IgE syndrome ...........................530
Angelman syndrome ..............470 syndrome ...........................500 Mevalonate kinase deficiency/
Rett syndrome ........................471 VI Defects of immune hyperimmunoglobulin D
Other common single gene regulation ........................501 periodic fever syndrome ....530
disorders .........................472 X-linked lymphoproliferative Cryopyrin-associated periodic
Duchenne muscular dystrophy ...472 disease (Duncan syndrome) ...501 syndrome ............................531
Fragile X syndrome ................472 Chediak–Higashi syndrome ...502 Periodic fever, aphthous
Neurofibromatosis type 1 .......473 Autoimmune lymphoproliferative stomatitis, pharyngitis and
Tuberous sclerosis ....................474 syndrome ..............................503 adenitis .............................. 532
Other rare recognisable Chronic mucocutaneous Chronic pain syndrome .......... 532
syndromes .......................475 candidiasis .........................503 Complex regional pain C
o
Kabuki syndrome ...................475 VII Phagocytic defects ........504 syndrome ........................... 532 n
Rubinstein–Taybi syndrome ...476 Chronic granulomatous Joint hypermobility syndrome ...533 te
de Lange syndrome ................477 disease ...............................504 Further reading ...................... 533 nt
Sotos syndrome ......................478 Leukocyte adhesion s
Goldenhar syndrome deficiencies .........................506
(hemifacial microsomia) .....479 VIII Innate immune defects ...507 CHAPTER 18
VATER/VACTERL X-linked immunodeficiency Neonatal and
association. .........................480 associated with ectodermal General Paediatric
Bardet–Biedl syndrome ..........481 dysplasia ............................507 Surgery
Beckwith–Wiedemann Interferon-gamma/I L-12 Oesophageal atresia ................535
syndrome ...........................482 pathway defects .................507 Congenital diaphragmatic
Silver–Russell syndrome .........483 Further reading ......................508 hernia .................................536
ix