Examination paediatrics 2011

Examination
Paediatrics
4th edition


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Examination
Paediatrics
4th edition
Wayne Harris
MBBS, MRCP (UK), FRACP
Senior Staff Specialist in Paediatrics,
West Moreton South Burnett Health Service District
Senior Lecturer, Department of Paediatrics and Child Health,
University of Queensland, Brisbane

Sydney Edinburgh London New York Philadelphia St Louis Toronto


Churchill Livingstone
is an imprint of Elsevier
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and/or damage to persons or property arising from any error in or omission from this publication.
National Library of Australia Cataloguing-in-Publication Data
___________________________________________________________________
Author: Harris, Wayne
Title: Examination paediatrics / Wayne Harris.
Edition: 4th ed.
ISBN: 9780729539401 (pbk.)
Notes: Includes index.
Subjects: Pediatrics. Pediatrics--Examinations, questions, etc.
Dewey Number: 618.92
___________________________________________________________________
Publisher: Sophie Kaliniecki
Developmental Editor: Neli Bryant
Publishing Services Manager: Helena Klijn
Project Coordinators: Geraldine Minto & Mohanambal Natarajan
Edited by Geoffrey Palmer
Proofread by Ian Ross
Index by Annette Musker
Cover design by Stan Lamond from Lamond Art & Design

Internal design adapted by Stan Lamond from Lamond Art & Design
Typeset by TNQ Books and Journals Pvt Ltd
Printed by China Translation & Printing Services Ltd


Dedication
To the late Steve Irwin, the ‘Crocodile
Hunter’
(22.2.1962–4.9.2006),
The original Wildlife Warrior,
a remarkable larger-than-life father,
husband and superhero

Steve Irwin was world famous for his remarkably enthusiastic efforts to educate our
planet about the importance of wildlife and conservation. His honours included:
1997, discovery of new species of turtle, Elseya irwini; 2000, Honorary Senior
Fellowship (University of the Sunshine Coast); 2001, Centenary Medal (for global
conservation); 2002, Queensland Museum Medal; 2003, Queenslander of the Year;
and—posthumously—2007, baby gorilla named after Steve (Rwandan government);
2007, Adjunct Professorship (University of Queensland School of Integrative Biology);
2009, Australian Land Snail named Crikey steveirwini. I will always remember Steve
as my friend. I was privileged to get to know him, initially as a fellow parent, where
our daughters attended the same preschool and became best friends. I  was always
impressed with Steve: his unparalleled devotion to his family; giving freely of his
time to launch a fund-raising charity month supporting the local children’s ward,
appearing on local radio and giving free entry to over 150 chronic paediatric patients
from my hospital to his Australia Zoo; and opening the magnificent wildlife hospital.
I respected his intelligence, his passion for his cause and his genuine compassion for
sick children, but most of all I was touched by what a fantastic father and husband he
was. His enthusiasm touched the lives of, and inspired, everyone he met. He is greatly

missed.

v


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Contents
Dedication  v
Foreword  ix
Preface  xi
Preface to the first edition  xiii
Acknowledgements  xv
Abbreviation  xvii
Introduction  xxxiii
1 
2 
3 
4 
5 

Obesity  157
Normal puberty  163
Precocious puberty  164
Delayed puberty  169
Disorders of Sexual Development (virilisation in the post-­
neonatal period)  177

Thyroid disorders  182
Thyroid disorders in infants  186

Approach to the examination  1
The long case  7
The short case  14
Achievement psychology  17
Behavioural and developmental
paediatrics  25
Long Cases
Anorexia nervosa  25
Attention deficit hyperactivity
disorder (ADHD)  35
Autistic disorder (autism)  49
Short Cases
Child suspected of having
ADHD  61
Child with possible autism/autistic
spectrum disorder (ASD)  64

8  Gastroenterology  190
Long Cases
Inflammatory bowel disease  190
Chronic liver disease (CLD)  200
Malabsorption/maldigestion  212
Short Cases
Gastrointestinal system  217
The abdomen  222
Jaundice  229
Nutritional assessment  236

Failure to thrive  244
Poor feeding  246
Weight loss—older child/­
adolescent  246

6  Cardiology  67
Long Case
Cardiac disease  67
Short Case
The cardiovascular system  91

9  Genetics and dysmorphology  253
Long Cases
Down syndrome  253
Turner syndrome  265
Short Case
The dysmorphic child  277

7  Endocrinology  107
Long Cases
Congenital adrenal
­hyperplasia  107
Diabetes mellitus  116
Short Cases
Disorders of Sexual Development
(ambiguous genitalia)  132
Diabetes  135
Short stature  136
Tall stature  150

10  Haematology  287
Long Cases
Haemophilia  287
Sickle cell disease (SCD)  297
Thalassaemia: β-thalassaemia
major  311
Short Cases
The haematological system  321
Thalassaemia  329

vii


viii

Contents

11  Neonatology  332
Short Cases
The neonatal examination  332
The 6-week check  337
12  Nephrology  338
Long Cases
Chronic kidney disease
(CKD)  338
Nephrotic syndrome  356
Short Cases
Renal examination  365
Hypertension  369
Oedema  374

13  Neurology  377
Long Cases
Cerebral palsy  377
Dystrophinopathies: ­Duchenne
muscular dystrophy
(DMD)  391
Seizures and epileptic
­syndromes  403
Spina bifida  420
Short Cases
Developmental assessment  430
Eye examination  432
Motor cranial nerves  438
Neurological assessment of the
­upper limbs  439
Gait: a short-case approach  443
Neurological assessment of the
lower limbs  444
Cerebellar function  447
Large head  447
Small head  450
Seizures  459
Facial weakness  462
Floppy infant  464
Hemiplegia  469
Intellectual impairment  472
Involuntary movements  475
Neurofibromatosis, type 1
­(NF-1)  477

Neuromuscular assessment  479
Scoliosis  480
Spina bifida  482
14  Oncology  487
Long Case
Oncology  487
Short Case
Late effects of oncology
­treatment  498
15  The respiratory system  503
Long Cases
Asthma  503
Neonatal intensive care unit
graduate: chronic lung disease/
bronchopulmonary dysplasia
(CLD/BPD)  513
Cystic fibrosis (CF)  521
Obstructive sleep apnoea
(OSA)  546
Short Cases
The respiratory system  552
The chest  556
Stridor  556
Chest X-rays  558
16  Rheumatology  561
Long Cases
Juvenile idiopathic arthritis
(JIA)  561
Juvenile idiopathic inflammatory
myopathies (JIIMs): juvenile

dermatomyositis (JDM)  577
Systemic lupus erythematosus
(SLE)  587
Short Case
Joints  598
Suggested reading  604
Quick Reference Mnemonics  607
Picture Credits  623
Index  625


Foreword
The fourth edition of Examination Paediatrics by Dr Wayne Harris updates this widely
used text to assist paediatric trainees undertaking the current clinical examinations
as part of their vocational training and qualifications. Examination candidates in
Australia, New Zealand, South-East Asia, the United Kingdom and North America
have benefited from the previous editions over the last 18 years. Next to extensive
experience and practice in assessing children in clinical situations, this book equips
candidates with a systematic approach to both the long- and short-case elements used
in examinations.
The first four chapters outline the general approach to examination procedures,
including interaction with examiners and practical preparation for the differing
objectives of short- and long-case examinations. The chapter on achievement psy­
chology is of particular relevance to those who find examination settings and experi­
ence extremely difficult.
Subsequent chapters highlight each of the different areas of paediatrics by subspeciality organ system. As in previous editions, there is extensive use of mnemonics
to assist candidates with recalling the significant issues in examining patients or
discussing conditions.
Although the book is primarily intended for paediatric trainees, it will also be
of use for others undertaking clinical examination of children, including medical

students or general practice trainees. The comprehensive coverage of conditions given
in the text assists examination candidates to review the scope of their experience and
knowledge, and identify areas where more experience or practice is needed.
Dr Harris (and his two co-authors of the previous first and second editions of
Examination Paediatrics) has an extensive involvement in general paediatrics and
examination experience, on which this book is based. In this new edition, he has
provided updates in important areas where understanding of causation of disease
and/or treatment have changed in the last 4 years.
This latest edition will prove to be an invaluable asset to those preparing for and
undertaking paediatric clinic examinations, especially those in paediatric generalist
or specialist vocational training.
Professor Allan Carmichael, OAM, MBBS (Monash), M.D. (Melb), FRACP
Professor of Paediatrics and Child Health
Dean, Faculty of Health Science
University of Tasmania

ix


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Preface
‘Geez, mate, that’s pretty good. You could be a vet!’
Steve Irwin, giving the author the greatest compliment
a paediatrician can receive, for cannulating his child.

The first edition of this book was written in 1992 to assist candidates preparing for

the Fellowship of the Royal Australasian College of Physicians (Part 1) Examination
in Paediatrics, or for the Membership of the Royal College of Physicians (Part 2)
Examination in Paediatrics, inspired by Talley and O’Connor’s book Examination
Medicine. The second edition came out in 2002, and the third in 2006. Much to my
amazement, it has continued to sell well enough to justify ongoing editions. More
changes are needed with each edition, as the progress of medical knowledge has been
staggering. I shall try to continue in Talley and O’Connor’s adult-sized footsteps,
and hope that this edition is yet more useful than the previous one. I believe there
is much of relevance to senior medical students and general practitioners, as well
as to paediatric trainees. All previous long cases have been extensively updated and
rewritten, and a new one (obstructive sleep apnoea) added; previous short cases have
been updated, and a new one (virilisation) added; there are new expanded sections
of previous chapters, new mnemonics and broader background information, and a
new section covering William’s syndrome. As noted in previous editions, this is not
the ‘Einstein Encyclopaedia of Paediatrics’; its purpose is to make the hurdle of any
paediatric examination easier to clear.
Don’t panic! Good luck!
Wayne Harris
July 2010

xi


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Preface to the first edition
‘Don’t panic.’

The Hitchhiker’s Guide to the Galaxy, Douglas Adams

This book has been written to assist candidates preparing for the Fellowship of the
Royal Australasian College of Physicians (Part 1) Examination in Paediatrics. It is
also intended to assist candidates preparing for the Membership of the Royal College
of Physicians (Part 2) Examination in Paediatrics. It was inspired by Talley and
O’Connor’s book Examination Medicine, written to assist in the preparation for the
Royal Australasian College of Physicians’ Internal Medicine (Part I) Examination.
We have tried to present a structured and comprehensive approach to the clinical
examination of the paediatric patient in a way that is particularly relevant for the
postgraduate degrees of the FRACP (Part 1) and the MRCP (Part 2). Approaches are
presented for most of the common-examination long and short cases.
This book is not designed to be the ‘Einstein Encyclopaedia of Paediatrics’. As a
supplement to the major texts and journal articles, it aims to demonstrate approaches
that the authors have found successful.
Our combined experience of the FRACP examination comprises six written
examinations, and six clinical examinations (including two ‘extra time’ cases), and
for the MRCP, one clinical examination. This broad coverage of most conceivable
contingencies ensures that many of the approaches have been tested (successfully) in
the actual examination settings by the authors, while others have been tested by our
peers in their examinations.
We hope that this book will be useful for examination candidates, and also
helpful to paediatric residents/house officers, senior medical students and general
practitioners who deal with children.
While every effort has been made to ensure the accuracy of the information herein,
especially with regard to drug selection and dosage, appropriate information sources
should be consulted, particularly for new or uncommon drugs. It is the clinician’s
responsibility to check the appropriateness of an opinion in relation to acute clinical
situations and new developments. Any comments or suggestions will be gratefully
and humbly received, so that future editions of this book may prove to be more useful.

Good luck!
Wayne Harris
Brian Timms
Robin Choong
1992

xiii


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Acknowledgements
Special thanks…
To my family for supporting me throughout the months spent producing this edition.
To my friends and colleagues, Dr Brian Timms and Dr Robin Choong, two of my
favourite people, for supporting me as co-authors over the first and second editions
of this book, and for encouraging me to complete the third edition, and this edition.
To the following wonderful people, for your unwavering support, and
encouragement: Dr John Arranga, Dr Benjamin Cheung, Dr Lisa Gotley, Mrs Terri
Irwin, Dr Herminia Narvaez, Dr Joseph Pasion, Mr Rob Penfold, Dr Alberto Pinzon,
Dr Sonia Reichert, Ms Junko Tanaka and, Mr Charles Waterstreet.

Reviewers
I would like to thank the following specialists who were kind enough to review
different sections of the book. Their comments were invaluable. However, the book
does not necessarily reflect the opinions of these specialists.
Navid Adib, FRACP, Paediatric Rheumatologist, The Royal Children’s Hospital,

Brisbane.
Chris Barnes, FRACP, Paediatric Haematologist, The Royal Children’s Hospital,
Parkville.
Phillip Britton, MBBS, DCH, Advanced Trainee in Paediatrics, Deputy Chief
Resident Medical Officer, The Children’s Hospital at Westmead, New South Wales
(The Royal Alexandria Hospital for Children), General Paediatrics.
Anita Cairns, FRACP, Paediatric Neurologist, The Royal Children’s Hospital,
Brisbane.
Sophie Calvert, FRACP, Paediatric Neurologist, Mater Children’s Hospital, Brisbane.
A Carmichael, MD, FRACP, Dean, Faculty of Health Science, University of Tasmania,
Hobart.
Anne Chang, FRACP, Paediatric Respiratory Consultant, The Royal Children’s
Hospital, Brisbane.
R Choong, FRACP, AIMM, Senior Staff Specialist, Paediatric Intensive Care and
Paediatric Emergency Medicine, The Children’s Hospital at Westmead, New South
Wales.
Andrew Cotterill, FRACP, Director, Department of Endocrinology, Mater Children’s
Hospital, Brisbane
Luciano Dalla Pozza, FRACP, Paediatric Oncologist, The Children’s Hospital at
Westmead, New South Wales.
Alexa Dierig, Clinical Research Fellow NCIRS (National Centre for Immunisation,
Research and Surveillance), The Children’s Hospital at Westmead, New South
Wales
Elisabeth Hodson, FRACP, Paediatric Nephrologist, The Children’s Hospital at
Westmead, New South Wales.
Rick Jarman, FRACP, Consultant Paediatrician, The Royal Children’s Hospital,
Parkville.

xv

xvi

Acknowledgements

Maina Kava, MBBS, MD, DCH, DNB, FCPS, Paediatric Neurology Fellow, Princess
Margaret Hospital, Western Australia
Gulam Khandaker, MBBS, MPH, DCH, PhD candidate, The Children’s Hospital at
Westmead, New South Wales; Clinical Research Fellow, NCIRS (National Centre
for Immunisation, Research and Surveillance)
Johnny Kwei, MBBS, Plastic Surgical Advance Trainee, The Children’s Hospital at
Westmead, New South Wales
I B Masters, FRACP, Director, Department of Respiratory Medicine, The Royal
Children’s Hospital, Brisbane
Jim McGill, FRACP, Director, Department of Metabolic Medicine, The Royal
Children’s Hospital, Brisbane.
Martha F Mherekumombe, MBCHB, M Med, DCH, FRACP, Paediatric Trainee,
Senior Registrar, The Children’s Hospital at Westmead, New South Wales
Ahmed Moustafa, MBChB, AMC, DCH, Paediatric Registrar, The Children’s
Hospital at Westmead, New South Wales
Edward O'Loughlin, MD, FRACP, Paediatric Gastroenterologist, The Children’s
Hospital at Westmead, New South Wales.
Robert Ouvrier, FRACP, Paediatric Neurologist, The Children’s Hospital at
Westmead, New South Wales.
Marilyn Paull, MBBS, B Med Sci (Hons), Hons in Neurophysiology Advanced
Trainee, DCRMO Advanced Paediatric Trainee and Deputy Chief Resident at
Children’s Hospital at Westmead, New South Wales.
James Pelekanos, FRACP, Paediatric Neurologist, Brisbane; Senior Lecturer,
University of Queensland.
Susan Sawyer, MD, FRACP, Director, Centre for Adolescent Health, The Royal

Children’s Hospital, Parkville
Brian Timms, FRACP, Consultant Paediatrician, Consultant Neonatologist,
Melbourne.
Peter van Asperen, FRACP, Paediatric Thoracic Physician, The Children’s Hospital at
Westmead, New South Wales.
Garry Warne, FRACP, Paediatric Endocrinologist, The Royal Children’s Hospital,
Parkville.
Chris Whight, FRACP, Paediatric Cardiologist, The Royal Children’s Hospital,
Brisbane.


Abbreviations
1,25(OH)2 D3
3β-HSD
3D
3DE
5-ASA
6-MP
6-MMP
6-TG
7vPCV
21OHD-CAH
11OHD-CAH
17OHD-CAH
17OHP
AAI
AAN
AAP
AAVC
ABC

ABPA
ACA
ACE
AChR
ACM
ACR
ACS
ACTH
AD
ADD
a-DGP
ADH
ADHD
ADI-R
ADL
ADLTLE
ADNFLE
ADOS
ADPEAF
ADR
AED
AFO
AGC
AGS
AHA
AHI
AIDs

calcitriol
3 beta-hydroxysteroid dehydrogenase

three-dimensional
three-dimensional echocardiography
5-aminosalicylate
6-mercaptopurine
6-methylmercaptopurine
6-thioguanine
heptavalent conjugated pneumococcal vaccine
congenital adrenal hyperplasia due to 21 hydroxylase deficiency
congenital adrenal hyperplasia due to 11 beta hydroxylase
deficiency
congenital adrenal hyperplasia due to 17 hydroxylase deficiency
17 hydroxyprogesterone
atlanto-axial instability
American Academy of Neurology
American Academy of Pediatrics
accessory atrioventricular connection
airway, breathing, circulation
allergic bronchopulmonary aspergillosis
anterior cerebral artery
angiotensin-converting enzyme
acetylcholine receptor
Arnold-Chiari malformation
acute cellular rejection and/or American College of
Rheumatology
acute chest syndrome (in sickle cell disease)
adrenocorticotropic hormone
autosomal dominant
attention deficit disorder
anti-deamidated gliadin-related peptide
antidiuretic hormone

attention deficit hyperactivity disorder
Autism Diagnostic Interview—Revised
activities of daily living
autosomal-dominant lateral temporal lobe epilepsy (aka
ADPEAF)
autosomal-dominant nocturnal frontal lobe epilepsy
Autism Diagnostic Observation Schedule
autosomal-dominant partial epilepsy + auditory features (aka
ADLTLE)
adriamycin
anti-epileptic drug
ankle-foot orthosis
aspartate glutamate carrier
Alagille syndrome
American Heart Association
apnoea hypoxic index
anti-inflammatory drugs
xvii


xviii Examination paediatrics

AIDS
AIR
aka
ALL
ALP
ALT
ALTE
AMH/MIS

AML
AN
ANA
ANC
ANLL
AP
APD
aPTT
AR
ARB
AS
ASCA
ASD
ASQ
AST
AT
ATG
ATN
ATNR
ATZ
AV
AVM
AVN
AVNRT
AZA
BAV
B–B
BDP-HFA
BDZ
BECTS

BFNS
BiPAP
BMD
BMI
BMTx
BN
BPD
BSL
BSS
BTX-A
BUD
B-W
C1
C2

acquired immune deficiency syndrome
anaesthesia-induced rhabdomyolysis
also known as
acute lymphoblastic leukaemia
alkaline phosphatase
alanine aminotransferase
apparent life threatening event
anti-Müllerian hormone/Müllerian inhibiting substance
acute myeloid leukaemia
anorexia nervosa
antinuclear antibody
absolute neutrophil count
acute non-lymphoblastic leukaemia
anteroposterior
automated peritoneal dialysis

activated partial thromboplastin time
autosomal recessive
angiotensin II receptor blocker
aortic stenosis
anti-Saccharomyces cerevisiae antibodies
atrial septal defect and/or autistic spectrum disorder
Ages and Stages Questionnaire
aspartate aminotransferase
alpha-1-antitrypsin
anti-thymocyte globulin
acute tubular necrosis
asymmetric tonic neck reflex
alpha-1-antitrypsin Z
atrioventricular
arteriovenous malformation
atrioventricular node
atrioventricular node re-entry tachycardia
azathioprine
bicuspid aortic valve
Bardet–Biedl syndrome
beclomethasone diproprionate
benzodiazepine
benign epilepsy with centrotemporal spikes
benign familial neonatal seizures
bilevel positive airways pressure
bone mineral density and/or Becker muscular dystrophy
body mass index
bone marrow transplantation
bulimia nervosa
bronchopulmonary dysplasia

blood sugar level (commonly used term for plasma glucose level)
Bernard-Soulier syndrome
botulinum toxin A
budesonide
Beckwith-Wiedemann syndrome
atlas; first cervical vertebra
axis; second cervical vertebra


  •  Abbreviations

CAB
CACN
CAE
CAH
CAL
CAPD
CAR
CARS
CAS
CATCH-22

CBAVD
CBCL
CB-SCT
CBZ
CCF
CCP
CCPD
CCPT

CD
CDA
CDH
CDI
CDP
CF
CFC
CFLD
CFR-BD
CFRD
CFTR
CGH
CGMS
CH
CHAQ
CHARGE
CHAT
CHD
CHILD
CHQ
CHR
CI
CIC
CKD
CKD-MBD
CLCN
CLD

xix

chlorambucil
calcium channel
childhood absence epilepsy
congenital adrenal hyperplasia and/or chronic active hepatitis
café-au-lait
continuous ambulatory peritoneal dialysis
Central Africa Republic
Childhood Autism Rating Scale
Child Assessment Schedule
cardiac defects, abnormal facies, thymic hypoplasia [and
T cell deficiency], cleft palate, hypoparathyroidism [and
hypocalcaemia] [chromosome 22: band 11 of long arm,
microdeletions (22q11)]
congenital bilateral absence of the vas deferens
Child Behaviour Checklist
cord-blood-derived stem cell transplantation
carbamazepine
congestive cardiac failure
citrullinated cyclic peptide
continuous cycling peritoneal dialysis
Connors continuous performance test
Crohn’s disease and/or cadaveric donor
Child Disability Allowance
congenital dislocation of the hip
Child Development Inventories
constitutional delayed puberty (and growth)
cystic fibrosis
cardio-facial-cutaneous syndrome and/or chlorinated
fluorocarbons
cystic fibrosis-associated liver disease

cystic fibrosis-related bone disease
cystic fibrosis-related diabetes
cystic fibrosis transmembrane conductance regulator
comparative genomic hybridization (array same as CMA)
continuous glucose monitoring system
congenital hemihypertrophy
Childhood Health Assessment Questionnaire
colobomatous malformation of eye, heart, atresia choanae,
retardation (cognitive & somatic), genital anomalies, ear
anomalies +/– deafness
Checklist for Autism in Toddlers
congenital heart disease
congenital hemidysplasia, ichthyosiform [erythroderma], limb
defects
Child Health Questionnaire
cholinergic receptor
cochlear implantation
ciclesonide
chronic kidney disease
chronic kidney disease mineral bone disease
chloride channel
chronic liver disease and/or chronic lung disease


xx

Examination paediatrics

CLZ
CMA

CML
CMP
CMT
CMV
CNF1
CNI
CNS
CNV
CO2
COFS
COG
COX-2
CP
CPA
CPAP
CPR
CRF
CRH
CRINS
CRP
CS
CSA
CSF
CSINS
CSWS
CT
CTAF
CTE
CTS
CVA

CVAD
CVS
CXR
CYP17A1
CYP21A2
DAP
DAT
dB
DBCL
DCCT
DCD
DCM
DDAVP
DDH
DDST
DDST-II
DEXA
DFO
DFP

clonazepam
chromosomal microarray analysis (same as CGH)
chronic myeloid leukaemia
cow’s milk protein
Charcot-Marie-Tooth disease
cytomegalovirus
congenital nephotic syndrome of the Finnish type
calcineurin inhibitor
central nervous system
copy-number variant

carbon dioxide
cerebro-oculo-facial-skeletal syndrome
children’s oncology group
cyclo-oxygenase 2
cerebral palsy
cyclophosphamide
continuous positive airways pressure
cardiopulmonary resuscitation
chronic renal failure
corticotrophin-releasing hormone
corticosteroid-resistant idiopathic nephrotic syndrome
C-reactive protein
corticosteroid
cyclosporine A
cerebrospinal fluid
corticosteroid-sensitive idiopathic nephrotic syndrome
epileptic encephalopathy with continuous spike-and-wave
during sleep
computed tomography
conotruncal anomaly face syndrome
CT enterography
centrotemporal spikes
cerebrovascular accident
central venous access device
cardiovascular system and/or chorionic villus sampling
chest X-ray
cytochrome P450 enzyme 17-hydroxylase
cytochrome P450 enzyme 21-hydroxylase
dystrophin-associated protein
dopamine transporter

decibel
Developmental Behaviour Checklist
Diabetes Control and Complications Trial
developmental coordination disorder (clumsiness)
dilated cardiomyopathy
desmopressin (1-deamino 8-D arginine vasopressin)
developmental dysplasia of the hip
Denver developmental screening test
Denver developmental screening test—II (revised)
dual X-ray absorptiometry
desferrioxamine
deferiprone


  •  Abbreviations

DFS
DFT
DFZ
DGGE
DGS
DHEA
DHEAS
DHT
DIC
DICA
DIDMOAD
DIOS
DISC
DISCO

DISIDA
DKA
DMARDs
DMD
DMSA
DNA
DQ
DS
DSD
dsDNA
DSM-IV
DTPA
D-W
EACA
EBV
ECA
ECG
ECMO
EDIC
EEG
EEN
EFD
EGTCSA
EHBA
EJA
EJM
ELBW
EMA
EM-AS
EME

EMG
ENT
EPR
EPS
ER

xxi

deferasirox
deferitrin
deflazacort
denaturing gradient gel electrophoresis
DiGeorge syndrome
dehydroepiandrosterone
dehydroepiandrosterone sulphate
dihydrotestosterone
disseminated intravascular coagulation
Diagnostic Interview for Children and Adolescents
diabetes insipidus-diabetes mellitus-optic atrophy-deafness
(Wolfram)
distal intestinal obstruction syndrome
Diagnostic Interview for Children
Diagnostic Interview for Social and Communications Disorders
di-iso-propyl-imino-di-acetic acid [disofenin hepatobiliary
scan]
diabetic ketoacidosis
disease-modifying antirheumatic drugs
Duchenne muscular dystrophy
di-mercapto-succinic-acid
deoxyribonucleic acid

developmental quotient
Down syndrome
disorder of sexual development
double-stranded DNA
Diagnostic and Standard Manual of Mental Disorders, 4th
edition
Tc99m diethylene triamine penta-acetic acid
Dandy-Walker syndrome
epsilon-aminocaproic acid
Epstein-Barr virus
epilepsy childhood absence
electrocardiogram
extracorporeal membrane oxygenation
Epidemiology of Diabetes Interventions and Complications
electroencephalogram
exclusive enteral nutrition
eformoterol fumarate dihydrate
epilepsy with generalised tonic-clonic seizures alone
extrahepatic biliary atresia
epilepsy juvenile absence
epilepsy juvenile myoclonus
extremely low birthweight
endomysial antibody
epilepsy with myoclonic atonic seizures (Doose syndrome)
early myoclonic encephalopathy
electromyogram
ears, nose and throat
early-phase allergic response
electrophysiologic study
endoplasmic reticulum and/or extended release

xxii Examination paediatrics

ERA
ERCP
ERG
ERPT
ESLD
ESM
ESR
ESRD
FA1AT
FAS
FBC
FDA
FET
FEV1.
ffDNA
FFP
FHM
FISH
F-IX
FLAIR
FLE
fMMC
fMRI
FP
FS
FS+

FSGS
FSH
FVC
F-VIIa
F-VIII
G6PD
GABA
GABR
GAD
GADA
GARS
GBM
GBS
GCDH
G-CSF
GEFS+
GFR
GGT
GH
GI
GIT
GLUT1-DS
GM-CSF
Gn
GN
GnRH

enthesitis-related arthritis
endoscopic retrograde cholangiography
electroretinogram

endorectal pull-through procedure
end-stage liver disease
ethosuximide and/or ejection systolic murmur
erythrocyte sedimentation rate
end-stage renal disease
faecal alpha-1-antitrypsin excretion test
foetal alcohol syndrome
full blood count
Food and Drug Administration
forced inspiratory time
forced expiratory volume in one second
cell-free foetal DNA
fresh frozen plasma
familial hemiplegic migraine
fluorescence in situ hybridisation
factor 9
fluid attenuation inversion recovery sequences
frontal lobe epilepsy
foetal myelomeningocoele
functional MRI
fluticasone proprionate
febrile seizures
febrile seizures plus
focal segmental glomerulosclerosis
facio-scapulo-humeral and/or follicle stimulating hormone
forced vital capacity
activated factor 7
factor 8
glucose-6-phosphate dehydrogenase
gamma-amino butyric acid

gamma-amino butyric acid receptor
glutamic acid decarboxylase
glutamic acid decarboxylase antibodies
Gilliam Autism Rating Scale
glomerular basement membrane
Guillain-Barre syndrome and/or group B streptococcus
glutaryl-CoA dehydrogenase
granulocyte colony stimulating factor
generalised epilepsy with febrile seizures plus
glomerular filtration rate
gamma glutamyl transferase
growth hormone
glycaemic index
gastrointestinal tract
glucose transporter 1 deficiency syndrome
granulocyte-macrophage colony stimulating factor
gonadotrophin
glomerulonephritis
gonadotrophin-releasing hormone (aka LHRH)


  •  Abbreviations xxiii

GOR
GORD
GSD
GSTM1
GTCS
GTT
GVHD

HACAs
HAT
Hb
HbA1C
Hb AS
HBB
HBeAg
Hb C
Hb F
Hb S
Hb SC
HBsAg
Hb SS
HC
HCC
hCG
HCM
HCV
HD
HDL
HEADS
HFA
HFI
HGPRT
HHT
HIDA
HIV
HKAFO
HLA
HLHS

HNF
HPA
HPG
HPOA
HPFH
HPLC
HRCT
HRQOL
HS
HSCT
HSE
HSP
HSTCL

gastro-oesophageal reflux
gastro-oesophageal reflux disease
glycogen storage disease
glutathione-S-transferase
generalised tonic clonic seizures
glucose tolerance test
graft versus host disease
human anti-chimeric antibodies
hepatic artery thrombosis
haemoglobin
haemoglobin A1C: glycosylated haemoglobin
haemoglobin AS (sickle cell trait)
haemoglobin subunit beta globin gene
hepatitis B e antigen
haemoglobin C
haemoglobin F (foetal)

haemoglobin S(sickle cell)
haemoglobin SC (sickle cell/haemoglobin C disease)
hepatitis B surface antigen
homozygous sickle cell disease
head circumference
hepatocellular carcinoma
human chorionic gonadotrophin
hypertrophic cardiomyopathy
hepatitis C
haemodialysis
high-density lipoprotein
Home, Education/Employment/Eating/Exercise, Activities,
Drugs & alcohol, Sexuality/Sexual health/Suicide/Self-harm &
depression/Safety
hydrofluoroalkane
hereditary fructose intolerance
hypoxanthine guanine phosphoribosyl-transferase
hereditary haemorrhagic telangiectasia
hepatobiliary iminodiacetic acid
human immunodeficiency virus
hip-knee-ankle-foot orthosis
human leucocyte antigen
hypoplastic left heart syndrome
human nephron filter
hypothalamic-pituitary-adrenal (axis)
hypothalamic-pituitary-gonadal (axis)
hypertrophic pulmonary osteoarthropathy
hereditary persistence of Hb F
high-performance liquid chromatography
high-resolution CT

health-related quality of life
hippocampal sclerosis
haematopoietic stem cell transplantation
herpes simplex encephalitis
Henoch–Schönlein purpura
hepatosplenic T-cell lymphoma


xxiv Examination paediatrics

HSV
HUS
HVZ
Hx
Hz
IA-2
IAA
IBD
IBW
IC
ICA
ICD
ICD-10
ICE-GTC
ICH
ICP
ICS
ICSI
ICU
ID

IDDM
IEM
IGF
IGFBP
Ig
IHH
IHH
IIMs
ILAE
ILAR
IM
IMP
INCS
INR
INS
IPTAS
IQ
IRT
ITT
IU
IUGR
IV
IVH
IVIG
IVC
JA
JAE
JBS
JDM
JIA

JLNS

herpes simplex virus
haemolytic uraemic syndrome
herpes varicella-zoster
history
hertz
tyrosine phosphatase
insulin autoantibodies
inflammatory bowel disease
ideal body weight
intracranial
internal carotid artery
implantable cardioverter defibrillator
international classification of diseases
intractable childhood epilepsy with generalised tonic-clonic
seizures
intracranial haemorrhage
intracranial pressure
inhaled cortico-steroids
intracytoplasmic sperm injection
intensive care unit
intellectual disability
insulin-dependent diabetes mellitus
inborn error of metabolism
insulin-like growth factor
insulin-like growth factor bonding protein
immunoglobulin
intermittent hypercarbic hypoxia and/or:
idiopathic hypogonadotrophic hypogonadism

idiopathic inflammatory myopathies
International League against epilepsy
International League against rheumatism
intramuscular and/or infectious mononucleosis
inosine monophosphate
intranasal corticosteroid
international normalised ratio
idiopathic nephrotic syndrome
isolated patients’ travel and accommodation scheme
intelligence quotient
immunoreactive trypsin
immune tolerance therapy
international units
intrauterine growth retardation
intravenous
intraventricular haemorrhage
intravenous immunoglobulin
inferior vena cava
juvenile arthritis
juvenile absence epilepsy
Johanson–Blizzard syndrome
juvenile dermatomyositis
juvenile idiopathic arthritis
Jervell and Lange-Nielsen syndrome