250 Questions For The MRCPCH Part 2

AHMED HAMMOODI
Comrnissioning Editor: Ellen Green

Development Editor: Helen Leng
Project Manager: Nancy Arnott
Designer: Erik Bigland
Illustration Manager: Bruce Hogarth
250 QUESTIONS FOR THE
MRCPCH
Part 2
J L Robertson MB chB MRcPcH
Associate Specialist
W irral Hospita l NHS Trust
Wirral, Merseysi de, UK
AP Hughes MB chB FRcPcH
AHMED HAMMOODI
Consultant Paediatrician
Wirral Hospital NHS Trust
Wirral, Merseyside, UK
SECOND EDITION
ELSEVIER
EDINBURGH LON DON NEW YORK OXFORD PHILADELPHIA ST LOUIS SYDNEY TOR ONTO 2006
CHURCHILL
LIVINGSTONE
ELSEVIER
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First edition 2001
Second edition 2006
AHMED HAMMOODI
ISBN 044310199X
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Preface
The first edition of this book came about as a result of a single request from
one of our SHOs. In preparing for the written section of the MRCPCH Part 2
examination, she asked if we had any data questions that she could use for
practice. 'One or two' might have been the initial reply. Instead, however, we
started writing d own our collection, many of which are real-life scenarios,
actually seen and managed in our hospital. These questions started life in a
simple format of blocks of 10. Inevitably, however, with our usual desire to
explore the limits of opportunity, this very rapidly evolved into a major
project, culminating in the first edition.
The second edition has been developed as a result of the college changing
the style of the exam. We have written as many of the questions as possible
in the new style and added many more.
Some questions we have not been able to rewrite but we believe they are
AHMED HAMMOODI
still educational.
JLR
APH
v
AHMED HAMMOODI
Contents .,
Introduction 1
1. Respiratory medicine
Questions (1) 5
Answers (1) 9
Helpful hints - Lung function tests J1
Questions (2) 12
Answers (2) 17
2. Cardiology
Questions (1) 19
Answers (1) 22
Helpful hints - Interpretation of cardiac catheterization 24
AHMED HAMMOODI
Questions (2) 26
Answers (2) 30
3. ECGs
Questions (1) 31
Answers (1) 37
Helpful hints - How to read an ECG 38
Questions (2) 43
Answers (2) 47
4 . Audiometry
Questions (1) 49
Answers (1) 53
Helpful hints - Audiometry 54
Rinne and Weber tests 55
Questions (2) 56
Answers (2) 58
5. Neurology
Questions (1) 59
Answers (1) 66
Helpful hints - The EEG 68
Questions (2) 70
Answers (2) 76
vii
6. Genetics
Questions (1) 77
Answers (1) 81
Helpful hints - Genetics 83
Questions (2) 84
Answers (2) 88
7. Statistics
Questions (1) 89
Answers (1) 91
Helpful hints - 2 x 2 charts 92
Questions (2) 93
Answers (2) 94
8. Electrolytes
Questions (1) 95
Answers (1) 98
Helpful hints - Electrolyte and dextrose solutions 99
Questions (2) 101
Answers (2) 103
AHMED HAMMOODI
9. Emergency medicine
Questions (1) 105
Answers (1) 108
Helpful hints - Blood gases 109
Questions (2) 110
Answers (2) 113
10. Haematology
Questions 115
Answers 125
11. Gastroenterology
Questions 129
Answers 134
12. Syndromes
Questions (1) 137
Answers (1) 139
Helpful hints - Syndromes 140
Questions (2) 141
Answers (2) 147
13. Neonates
Questions 149
Answers 154
vi ii
14. Miscellaneous
Questions 155
Answers 166
15. Exam 1
Questions 171
Answers 177
16. Exam 2
Questions 179
Answers 184
17. Exam 3
Questions 187
Answers 195
18. Themed questions

How to answer themed questions 197
Questions 198
Answers 209
AHMED HAMMOODI
19. Practice exam
Questions 213
Answers 218
20. Practice exam long questions

Questions 219
Answers 229
Index 231
ix
AHMED HAMMOODI
Introduction
Answering any exam question is a mixture of knowledge and technique. In

our experience, the best technique for answering data questions is as follows:
1. First highlight those parts of the question which you believe are relevant.
2. Then read all the stems of the question, before attempting to answer it.
AHMED HAMMOODI
3. Having answered the question, see if the answers are appropriate for all
the highlighted parts.
4. lf not, think again - it may be that the answer is wrong; or
5. It may be that certain things underlined are not relevant.
For instance, beware the haematological question with 'Greek child' in it.
Thalassaernia may be the correct association, but some Greek children will
be iron deficient. The information may or may not be relevant.
The following example demonstrates the usefulness of this answering
system (the italicized words are those you will have highlighted):
1. A 10-day-old female infant presents to you with vomiting and

drowsiness. On examination she is dehydrated and has normal genitalia:
Sodium 118 mmol/L

Urea 20.8 mmol/L
Glucose 1.8 mmol/L
(a) What is the cause of this child's presenting illness?

(i) salt-losing crisis
(ii) inappropriate feeding
(iii) poor blood sample
(iv) salt poisoning
(v) bowel obstruction
(b) What is the underlying diagnosis?

(i) pyloric stenosis
AHMED HAMMOODI
(ii) congenital adrenal hyperplasia
(iii) Munchausen's syndrome by proxy
(iv) congenital adrenal hypoplasia
(v) gastroenteritis
You may answer that the child has a salt-losing crisis and congenital adrenal
hyperplasia. This may well be right. However, the question specifically says
that the baby has normal genitalia and therefore the better answer is that of
congenital adrenal hypoplasia.
With some questions this will let you know the answer but, if it doesn't, look
again. This time, cross out the wrong answers; you will then find you are focusing
on only two answers instead of five.
2
HOW TO USE THIS BOOK
This book is designed to explain how to answer the questions, as opposed to

explaining the answers. Most of the chapters are divided into five sections: ...
:I
aa.
• Questions (1 ).
c
~
• Answers to questions (1) with brief explanations where relevant. c;·
:I
• Helpful hints. This may need reading several times but will help get you
to the answers.
You should now be in a position to answer the second set of questions more
appropriately and improve your performance in doing so.
• Questions (2).
• Answers to questions (2).
The book then has three exams. Each should be completed in one sitting before
looking at the answer. We have finished with themed and long questions and
we have tried to offer advice as to the best way to answer these.
AHMED HAMMOODI
3
AHMED HAMMOODI
Respiratory
medicine
QUESTIONS (1)
1.1 You are asked to review the lung function tests on a nine-year-old boy:
AHMED HAMMOODI
Predicted Measured
-
FVC 2.06 1.30 (63%)
FEV 1 1.86 1.05 (51%)
PEF 272 212
(a) What type of picture do these results demonstrate?

(i) restrictive
(ii) obstructive
(iii) normal
(iv) mixed restrictive and obstructive
(v) poor technique
(b) Give the most likely underlying diagnosis:

(i) pneumonia
(ii) astluna
(iii) muscular dystrophy
(iv) normal
(v) croup
5
1.2 A six-year-old boy is reviewed in your respiratory clinic. He is known
to have cystic fibrosis:
FVC 70%
FEV 1 45%
Flow
(litres/second)
2 3 volume (litres)
(a) What type of picture do these results demonstrate?

(i) restrictive
(ii) obstructive
(iii) normal
N
(iv) mixed restrictive and obstructive
I (v) poor technique
.....
w
(b) What is an appropriate follow-up test?
AHMED HAMMOODI
(i) repeat investigation
(ii) repeat after bronchodilator
(iii) repeat after one month of DNase
(iv) no need to do anything
(v) admit for antibiotics
1.3 A 16-year-old girl has had well-controlled asthma for the past two
years. When reviewed in clinic this time, the following test results were
found:
Predicted Measured
FVC (lit res) 3.97 3.02

FEV 1 (litres) 3.82 1.72
FEF (25-75%) 4.05 1.08
Suggest two possible explanations.
6
1.4 The following lung function tests were obtained from a 10-year-old boy
with cystic fibrosis before and after a one-month course of treatment:
:a
Predicted Measured 1 month later

,,::;·
ID
VI
...0
Ill
FVC
FEVI
PEF
2.1
1.90
277
1.21 (57%)
1.00 (53%)
205
1.59 (76%)
1.25 (65%)
197
'<
..
3
ID
Q.
i=i'
:;·
ID
(a) What is the likely treatment? .0
c
lb
(b) What is the percentage rise in FEV1 ? ~
o·
(i) 10 :::i
(ii) 15 "'
{iii) 20 !i.n
(iv) 25
(v) 50
AHMED HAMMOODI
1.5 These are the lung function tests of a 15-year-old asthmatic girl with
exercise intolerance:
Predicted Measured
FVC 3.91 3.68

FEVI 3.75 2.96
PEF 47 1 425
She is on moderate doses of inhaled steroids. Give two possible

treatment options.
7
1.6 Below is a diagram of lung volumes:
~ ---------------- ---------:-:--:-:1~
C])
E
::i
g
Time (s)
(a) What do the letters A and B represent?

(i) vital capacity
(ii) residual volume
(iii) functional residual capacity
AHMED HAMMOODI
(iv) expiratory reserve volume
(v) inspiratory reserve volume
(vi) tidal volume
(vii) total lung capacity
(b) Mark the vital capacity (as C) and expiratory reserve volume
(as D) on the diagram.
8
ANSWERS (1)
1.1 (a) (i)
(b) (iii)
Comment: Both FVC and FEV1 are markedly reduced. This may also
occur in fibrosing alveolitis or fibrosis from other conditions, and in
kyphoscoliosis. Note that cystic fibrosis is usually mixed.
1.2 (a) (iv)
(b) (ii)
Comment: FVC is reduced but FEV1 is reduced by a lot more.
1.3 Poor compliance, smoking or a worsening of her asthma.

The GP had in fact reduced the dose as the patient was well controlled.
Comment: Always put the most likely answer first.
AHMED HAMMOODI
1.4 (a) DNase.
(b) (iv)
Comment: (1.25 x 1.00)
- - - - - x 100 = 25%.
1.00
1.5 Add an inhaled long-acting beta-agonist, increase the inhaled steroids,

or give oral anti-leukotrienes.
Comment: Asthma guidelines.
You do not need to name specific drugs.
9
1.6 (a) A = (v); B =(ii)
(b) Mark the vital capacity (as C) and expiratory reserve volume
(as D) on the diagram:
Time (s)
Comment: Remember that one division is always a volume and more

than one is always a capacity.
AHMED HAMMOODI
10
Helpful hints
LUNG FUNCTION TESTS
1. FVC + FEVJ: if both are low this suggests a restrictive picture.
2. FVC near normal with low FEV1 suggests an obstructive picture.
3. FVC low, but FEV1 a lot lower suggests a mixed picture.

For example:
I
11)
-0....,
Predicted Result (1) Result (2) Result (3) c
:::;
FVC 2.00 1.30.I. 1 . 8~ 1.5.J.
FEV 1 1.86 1.05.I. 1.2.I. 1.os H
....
::::l
.,,
Restricted Obstructive Mixed
AHMED HAMMOODI
4. This may be expressed as a graph with only the percentage predicted for
FVC and FEV1 (e.g. see Question 1.2).
5. The most common restrictive pattern in children is muscular dystrophy

and severe scoliosis.
6. The most common obstructive pattern is asthma.
7. CF may be shown as a purely restrictive set of results but is often mixed.
11
QUESTIONS (2)
1.7 Draw a diagram of lung volumes showing the following:
A= Vital capacity
B = Fnnctional residual capacity
C = Tidal volume
D = Expiratory reserve volume
2(])
E
:::i
0
AHMED HAMMOODI
>
Time (s)
1.8 For the past two winters, a three-year-old child had been noted to
suffer from lethargy and coughing which seems to settle each spring.
This has been associated with poor feeding. The house is old but not
damp and has no central heating. The local authority intervened three
weeks ago and the child is now much better.
(a) What is the diagnosis?
(b) What has the conncil done?
12
1.9 A 16-year-old boy has been followed up in your clinic for several years.
These are his latest lung function tests:
Predicted Measured %
FVC 4.04 3.50 85
FEVI 3.88 2.2 1 57
PEF 48 1 253 53
FEF (25-75%) 4.09 1.70 41

(i) asthma
(ii) fibrosing alveolitis
(iii) muscular dystrophy
(iv) cystic fibrosis
(v) bronchiectasis
(b) Which of the above measurements is best for monitoring his
AHMED HAMMOODI
condition?
(i) FVC
(ii) FEV1
(iii) PEF
(iv) FEF (25-75%)
(v) none of the above
13
1.10 The following results were found when reviewing a 15-year-old
asthmatic girl. She is on inhaled steroids (800 µg b.d.) and a long-
acting beta-2 agonist (two puffs b.d.):
:a
ID
"'
"D
Measured %
....0~·
Predicted
FVC 3.97 4.51 114

-< FEV 1 3.82 3.75 98
3 PEF 476 491 103
ID FEF (25-75%) 4.05 3.76 93
CL
;:;·
:;·
ID
0
c(1) What is your management plan?
~-
0
::i (i) review in 3 months
"' (ii) stop the long-acting beta agonist
:...
(iii) decrease the long acting beta agonist to one puff b.d.
~ (iv) decrease the steroids
:...
IV
(v) stop the steroids
AHMED HAMMOODI
1.11 This seven-year-old has cystic fibrosis and poor exercise tolerance.
These are his lung function tests:
FVC 83% predicted

FEV 1 50% predicted
FEF (25-75%) 50% predicted
(a) What test would you do next?
(b) What treatment would you try?
1.12 A nine-year-old boy has asthma. Most of the year he has good control;
however, he complains that for the last two weeks the control has
been poor. Which of the following tests will best show this?
(i) FVC
(ii) FEV1
(iii) peak flow
(iv) peak flow diary
(v) FEF (25- 75'Yo)
14
1.13 Causes of hypoxia:
(i) hypoventilation
(ii) altih.lde
(iii) intrapulmonary shunt
(iv) cardiac shunt
(v) adult respiratory distress syndrome
(vi) pneumonia
(vii) pure Va/Q mismatch
(viii) diffusion effect
Which of the above best explain the mechanism of hypoxia below?
(a) You are reviewing a 12-year-old boy in out-patients who you

have been following up for the last seven years since being
diagnosed as having muscular dystrophy.
:....
(b) You have been caring for a 15-year-old girl who was diagnosed as w
I
having Raynaud's at five years. She is then noticed to have .....
.....
increased tightness of the facial skin. You suspect scleroderma. .!::>
AHMED HAMMOODI
(c) You are seeing a 10-week-old baby with cyanosis. She seems quite
settled and you decide to do an echo. This is normal.
1.14 A seven-year-old is coming up for his three-monthly review. He was

diagnosed as having cystic fibrosis four years ago. On questioning, he
also has some exercise intolerance which has been helped by the GP
prescribing a beta agonist. Which one of the following lung function
tests best fits?
FVC FEV1 PEF
Predicted 2.0 1.9 280

(i) 2.2 1.7 21 0
(ii) 1.6 1.1 200
(iii) 1.5 1.4 170
(iv) 1.7 1.8 250
(v) 1.9 1.0 160
15
1.15 A 16-year-old has asthma. He is on prophylactic steroids and long-
acting beta-2 agonists. You haven't seen him for three months. Which
of the following show poor control?
FVC FEV 1
Predicted 4.00 3.70

(i) 3.90 3.00
(ii) 3.50 3.05
(iii) 2.5 2.3
(iv) 3.00 2.2
(v) 3.60 3.70
:.....
V'1
AHMED HAMMOODI
16
ANSWERS (2)
1.7
2(])
E
:i
0
>
Time (s)
Comment: .R emember one space is a volume.
AHMED HAMMOODI
1.8 (a) Carbon monoxide poisoning.
(b) Changed the gas heating.

Comment: Nothing else fits all the relevant features - for example,
asthma would not usually cause poor feeding.
1.9 (a) (i)
(b) (iv)
Comment: FEF (25-75%) is the best measurement for small airway
disease. Peak flows are used because of their ease in measurement but
they mainly reflect large airways.
1.10 (iv)
Comment: 800 µg b.d. is a high dose and the results showed control.
1.11 (a) Bronchodilator response.
(b) Bronchodilators/ inhaled steroids/oral steroids.

Comment: FEV 1 and FEF (25-75%) are markedly reduced, suggesting
airway obstruction. If there is a bronchodilator response, treatment
with bronchodilators plus inhaler or oral steroids may not help.
17
1.12 (iv)
Comment: Although FEF (25-75°1<,) is the best one-off indicator, the
diary is best over time.
~
Ill
~.
... 1.13 (a) (i) (b) (viii) (c) (iii)
....0
Ill
Comment: For learning try to think of a diagnosis to go with all the
~ answers.
3
Ill
a.
2!: 1.14 (ii)
::s
Ill
)>
Comment: Decide what you would expect the FVC, FEV, PEF should
:i
VI
do, then look at the answers.
~
fl>
.....
VI
:..... 1.15 (i)

N
I
:.....
AHMED HAMMOODI
18
Cardiology
QUESTIONS (1)
2.1 The following are cardiac catheter results in a non-cyanotic 18-month-

old child:
AHMED HAMMOODI
Saturation (%) Pressure (mmHg)
SVC 79
RA 88
RV 86
PA 86
LA 96 -/6
LV 96
A 96
(a) What is the underlying diagnosis?

(i) normal
(ii) ASD
(iii) Eisenmenger's through an ASD
(iv) VSD
(v) Eisenmenger's through a VSD
(b) What pressure would you expect in the right atrium?
19
2.2 These cardiac catheterization results were obtained on a four-rnonth-
old premature baby:
Saturation (%)
RA 50
RV 50
PA 50
LA 80
LV 80
A 86
N
r..i
I
N
w (a) Give the most likely diagnosis:
(i) normal
(ii) ASD
(iii) TAPVD
(iv) chronic lung disease
(v) acute respiratory illness
AHMED HAMMOODI
(b) What further information do you need to confirm?
2.3 Match the three groups of cardiac lesions to the three syndromes:
trisomy 13, 18 and 21.
(a) PDA, septa! defects, pulmonary, aortic stenosis.
(b) AVSD, VSD, PDA.
(c) VSD, polyvalvular disease, coronary abnormalities.
20
2.4 A three-year-old has a cardiac catheterization:
Saturation(%) BP n
Ill
RA 74 -13 a.o·
RV 74 70130
PA 74 25/10 0
IC
LA 96 '<
LV 96 0
c(1)
VI
r+
er
::i
(a) What is the diagnosis? VI
N
{i) PDA
(ii) pulmonary stenosis N
t
V1
{iii) ASD
(iv) pulmonary atresia
(v) coarctation
(b) Name two changes that may occur on the ECG.
AHMED HAMMOODI
2.5 You are asked to see a six-year-old boy who has seen his GP for
headaches. His blood pressure is 150/70. You notice he has a murmur.
(a) What is the most likely diagnosis?

(i) aortic stenosis
(ii) PDA
(iii) renal scarring
(iv) coarctation
(v) essential hypertension
(b) Draw a table of approximate pressures and saturations for the left
side:
Saturations Pressures
LA 96 -/10
LV
Ascending aorta
Descending aorta
21
ANSWERS (1)
n 2.1 (a) (ii)

Al
a.
s· <b> -/6.
~ Comment: Saturations are too high in the right atrium so this is the level
'< of the shunt.
)>
::i
~ 2.2 (a) (iv)

11>
.....
V1
!'.J
_. (b) Echocardiogram.
I
N Comment: Chronic lung disease is the diagnosis because you would not
~
get Eisenmenger's syndrome through an atrial septal defect by four
months.
2.3 (a) 18.
(b) 21.
AHMED HAMMOODI
(c) 13.
2.4 (a) (ii)
(b) Right ventricular hypertrophy - upright T-wave V1 .

Tall R-wave V1 .
Right axis deviation.
Comment: The saturations are appropriate so it must be a valve
problem; therefore look at the pressures.
22
2.5 (a) (iv)
(b)
Saturations Pressures
LA 96 - /10
LV 96 150/70
Ascending aorta 96 150/70
Descending abdominal aorta 96 70130
Comment: An acyanotic lesion, so there is no drop in saturations. The

pressures do not have to be precise but there is already one in the
question.
Clue to answer (b): include ascending and descending.
AHMED HAMMOODI
23
Helpful hints
n
Ill
INTERPRETATION OF CARDIAC CATHETERIZATION
a
~
o Draw a schematic heart. For example:
ID
'<
RA LA
RV LV
PA AD
AHMED HAMMOODI
1. Mark the saturations in the boxes.
(a) Ask:
Are the saturations on the left greater than 90? Yes = normal.
Are the saturations on the right less than 80? Yes = normal.
Are they staying the same as the blood passes from one chamber
to the next?
(b) A step up on the right indicates a left-to-right shunt.
(c) A step down on the left indicates a right-to-left shunt.
24
2. Now mark all the blood pressures in the boxes.
(a) All the right sides should be lower than the left.
(b) If they are equal at any level then there may be shunting.
(c) If there is a s tep down across a valve then it is suggestive of

stenosis.
(d) This is especially true if you see a higher than expected pressure
in the chamber before the step d own; for example, in pulmonary
stenosis this would be in the right ventricle.
Examples:
~ m
AHMED HAMMOODI
80 96 87 96 88 96 96 80
Normal ASD VSD TGA
-/4 -17 -17 -17 -14 - 17
20/4 100/10 20/4 100/10 60/30 100/10
20/10 100/70 20/10 100/70 20/10 100/70

Normal ASD Pulmonary stenosis
25
QUESTIONS (2)
n 2.6 You are reviewing a two-year-old with the following cardiac pressures.
DI
a.
o·
He is acyanotic:
0
IO
'< Pressure (mmHg)
.0 -------
c
11)
VI
RA - 13
!:!'. RV 50/20
0
::J Pulmonary 50/20
N LA -n
"' LV
Aorta
10ono
10ono

(i) ASD
(ii) VSD
(iii) PDA
AHMED HAMMOODI
(iv) Normal
(v) Pulmonary stenosis
(b) What saturations would you expect in:

(i) RA?
{ii) RV?
26
2.7 You see a three-week-old baby whom you suspect has cyanotic heart
disease. These are the cardiac catheterization results:
Saturation (%)
RA 80
RV 80
Pulmonary 95
LA 95
LV 95
Aortic 80
(a) Are you right?
(b) What is the diagnosis?

(i) normal
(ii) VSD
(iii) tetralogy of Fallot
(iv) TGA
AHMED HAMMOODI
(v) PDA
2.8 A five-year-old child is seen by the cardiologist having been referred

for a murmur that radiates to his back.
Cardiac catheterization shows:
Pressure (mmHg) Saturation (%)
RV 41/6 80
Left pulmonary 25/15 89
Aorta 98/53 99

(i) pulmonary stenosis
(ii) left pulmonary stenosis
(iii) coarctation
(iv) right pulmonary stenosis
(v) PDA
(b) What is the treatment of choice?

(i) leave - stenosis will settle
(ii) balloon dilatation
(iii) coil device
(iv) PDA ligation
27
(v) open correction of coarctation
2.9 These are the cardiac catheterization pressures of a 13-year-old pre and
post intervention:
Pre Intervention Post Intervention
Left vent ricle 155/30 139/23

Ascending aorta 95n 98/54
Descending aorta 109/63

(i) aortic stenosis
(ii) coarctation
(iii) hypoplastic arch
(iv) PDA
(v) corrected tetralogy of Fallot
(b) Give two ways he may have presented.
AHMED HAMMOODI
2.10 A six-month-old baby with known Fallot's is up for cardiac review.
Pick two of the following which are most likely to be on the ECG:
(i) RVH
(ii) LVH
{iii) RAH
(iv) RBBB
(v) partial RBBB
(vi) R axis deviation
(vii) L axis deviation
(viii) heart block
2.11 You are reviewing the ECG of a one-year-old baby. The rate is 76 and
you are trying to work out the axis. Which of the following would stop
that being possible?
(i) partial RBBB

(ii) first-degree heart block
(iii) complete RBBB
(iv) intermittent ventricular ectopics
(v) biventricular hypertrophy
28
2.12 A three-month-old is reviewed by the cardiologist. The echo confirms
he has an ostium primum. Which of the following would you find on
ECG (choose two)?
(i) RBBB
(ii) partial LBBB
(iii) RVH
(iv) RAH
(v) L axis deviation
(vi) R axis deviation
(vii) LBBB
(viii) partial RBBB !'V
(ix) LVH N
I
(x) LAH !'V
w
2.13 A three-month-old is referred to the regional cardiologist with a

suspected VSD. Which of the following cardiac cat11eterizations would
confirm your diagnosis?
AHMED HAMMOODI
RA RV PA LA LV A
(i) 60 70 69 96 96 96
(ii) 60 60 60 95 96 95
(iii) 80 80 80 96 96 96
(iv) 65 65 75 96 96 96
(v) 60 62 60 85 85 85
29
ANSWERS (2)
2.6 (a) (ii) (could be patent ductus arteriosus (PDA) but part (b) suggests
VSD)
(b) (i) 80 (ii) 86

Comment: The pressure is increased in the right ventricle so in (b) show
a step up here.
2.7 (a) Yes.
(b) (iv)
w Comment: Be careful - at first glance the saturations look normal.
2.8 (a) (v)
(b) (iii)
Comment: The increase in both saturations and pressure shows a left-to-
right shunt.
AHMED HAMMOODI
2.9 (a) (i)
(b) Incidental murmur or collapse.

Comment: This is caused by a drop in blood pressure across the valve.
2.10 (i) and (vi)

Comment: If in doubt write the four clinical points of Fallot's - RVH,
overriding aorta, VSD and pulmonary stenosis - and think how they
could affect the ECG.
2.11 (iii)
Comment: Complete right or left bundle branch block makes the axis
impossible.
2.12 (v) and (viii)

Comment: Ostium Primum = left axis; ostium secundum = Right axis.
There is one R in each.
2.13 (i)
Comment: Draw the boxes; if in doubt write the diagnosis for each.
There is plenty of time.
30
EC Gs
QUESTIONS (1)
3.1 Comment on the axis of this ECG:
(i) normal
AHMED HAMMOODI
(ii) superior axis
(iii) left axis
(iv) right axis
(v) cannot comment
31
Ill
m
32
a
AHMED HAMMOODI
3.2 This is the ECG of a 14-year-old girl who had a Fontan operation for
tricuspid atresia and pulmonary stenosis. Comment on the right
atrium and ventricle:
0
c
ID
VI
r+
5·
:J
w
;..,,
AHMED HAMMOODI
er: ~ u..
> > >
"' "' "'
= =
(i} normal atrium and ventricle

(ii} normal atrium and absent ventricle
(iii) enlarged atrium and absent ventricle
(iv) enlarged atrium and normal ventricle
(v) enlarged atrium and enlarged ventricle
33
3.3 This is the ECG of a five-year-old girl who was operated on for
transposition. List three features on it that indicate right ventricular
hypertrophy:
m
a
VI
0
c
ID
~
6'
:::J
w
w
AHMED HAMMOODI
34
3.4 This 20-day-old baby with Down's syndrome has cyanosis.
AHMED HAMMOODI
35
(a) Comment on the ECG:
(i) complete RBBB
(ii) partial RBBB with right axis deviation
m (iii) partial RBBB
a
Ill
(iv) partial RBBB with left axis deviation
0 (v) normal ECG
c:
11)
~
o· (b) What is the cause of the cyanosis?
::J
w
~
AHMED HAMMOODI
36
ANSWERS (1)
3.1 (v) m
Comment: Cannot comment as complete heart block. Look at VcM- n
wave; therefore RBBB (see hints). "
Ill
3.2 (iii)
Comment: Peaked P-wave and V 3 R is all negative.
3.3 Right axis.

Upright T-wave V 1 V 2 .
Peaked R-wave V 1 .
3.4 (a) (iv)
(b) Right to left shunt, through AVSD - secondary to pulmonary

hypertension.
Comment: Associate the answer with the syndrome! It is not
Eisenmenger 's, because at this age it is caused by pulmonary
AHMED HAMMOODI
hypertension and is reversible.
37
Helpful hints
m HOW TO READ AN ECG
n
C'I
Ill
I
l'O 1. Look at the rhythm strip for:
"'O
......
c
(a) Rate.
::r
::::i (b) Rhythm.
vi- (c) Is there a P-wave for each QRS?
2. Look at leads VcV6 to see where V 4R is. Look at the standardization

mark to check millivoltage.
3. Look at the axis.

Either:
(a) 1 and a VF.
AHMED HAMMOODI
Work out the number of positive or n egative squares and then plot
the axis.
For example:
a VF
a VF
Or:
38
(b) The axis is at right angles to the smallest most equiphasic lead.
Then look at the lead at right angles; if it is positive the axis is
towards it.
m
For example, if the equiphasic lead is a Vf look at lead I: a
Ill
I
11>
~
c
:s-
....
:i
VI
AHMED HAMMOODI
39
4. Look for bundle branch block {BBB). This is usually right BBB with M
in V 1 • Left BBB is exceptionally uncommon both in child and paediatric
examinations (largely because it is not associated with congenital heart
disease).
Pnemonic: Marrow and William
M Min lead V 1
R R for right
w win lead v6
AHMED HAMMOODI
w win lead vl
L L for left
M Min lead V6
NB:
(a) Complete BBB (that is, wide QRS complex) means you cannot
comment on the axis.
(b) Partial BBB (that is, normal-width QRS complex) means you can
comment on the axis.
(c) RBBB means you cannot comment on right ventricular

hypertrophy.
40
5. Look for atrial hypertrophy in leads II, Vl.
(a) P-wave too tall = right atrium.
(b) P-wave bifid = left atrium.

6. Remember age dominance:
For example, at birth right ventricle
Then mixed dominance
Progressing to left ventricle.
(a) Right ventricle dominant Mainly R-wave V1
Mainly S-wave V6
(b) Left ventricle dominant Mainly S-wave vl
AHMED HAMMOODI
Mainly R-wave V6
Dominance usually changes from right to left in the first months.
7. Look for ventricular hypertrophy:
(a) Right ventricular hypertrophy:
R-wave > 20 mm V1
S-wave > 5 mm V6
Right axis deviation
Positive T-wave Vr
(b) Left ventricular hyp ertrophy:
S-wave > 20 mm V1
R-wave > 25 mm V6 .
(c) Combined is a mixture of the above.
41
8. Look for a delta wave. This must be associated with a short P-R
interval. (P-R is from start of P-wave until start of QRS complex.
Normal 0.12 ms= 3 squares.) It may help to place a piece of paper
along the R-wave.
NB: This may be mistaken for BBB.
9. The T-wave should be negative from day 7 until 12 years in V1.
10. Flat T = K+ J.. or= Ca2+ i
Peaked T = K+ i or = Ca2+ J..
Now you have read the ECG, read the question and fit it together.
For example:
(a) Partial RBBB = ASD
AHMED HAMMOODI
Then right axis = secundwn
Left axis = primum
(Remember one R in each.)
(b) Left ventricular hypertrophy.
Think coarctation and aortic stenosis, for example.
42
QUESTIONS (2)
3.5 This is the ECG of a 12-year-old girl who had a Fontan procedure for
tricuspid atresia. There is no murmur and BP is 85/50.
What does the ECG show?
AHMED HAMMOODI
a:
><ll
= 43
3.6 You have seen a three-month-old baby with the cardiologist. The baby
has poor weight gain and feeding difficulty. The echocardiogram
shows significant pulmonary artery branch stenosis.
m
n
"
UI (a) What is the likely diagnosis?
(i) Down's syndrome
(ii) cri du chat
(iii) Prader- Willi syndrome
(iv) Williams' syndrome
(v) Angelman's syndrome
(b) How is this confirmed?
(c) What other blood test needs checking?
AHMED HAMMOODI
44
3.7 This is an ECG of a 16-year-old boy who is normally asymptomatic but
was noted to have ectopics during surgery:
m
n
"'
Ill
>"'
0::: AHMED HAMMOODI

>
It)
(a) What does the ECG show?
(b) Is he likely to need an operation?
(c) How might you confirm that they are benign? 45

3.8 You are reviewing a five-month-old baby with known pulmonary
artery branch stenosis with the following ECG.
What features are notable on the ECG?
>'¢
AHMED HAMMOODI
46
ANSWERS (2)
3.5 Right atrial hypertrophy.
Left axis deviation.
3.6 (a) (iv)
(b) FISH test: deletion long arm chromosome 7.
(c) Calcium can be hypercalcaemic.

Comment: You can use initials but where possible write in full.
3.7 (a) Bigemini with unifocal ventricular ectopics.
(b) No.
(c) They disappear with exercise.

Comment: Asymptomatic and norma l complex in between.
AHMED HAMMOODI
3.8 Upright T-wave V1.
Inverted T-wave V6.

Comment: Look for the clue in the question - for example: pulmonary
stenosis, therefore look at the right ventricle.
47
AHMED HAMMOODI
Audiometry
QUESTIONS (1)
4.1 You are asked to see a five-year-old boy whose mother is worried that
he watches television with the volume turned up too loud.
AHMED HAMMOODI
0
10 0 / ...............0 - 0 - - 0
0V'l 20
x--~-~
o::l
:s 30
"'
Qi
~ 40
u
Q)
0
so
60
1
400 800 1600 2000 5000

Hertz (Hz)
What is the diagnosis?
(i) right conductive deafness

(ii) left conductive deafness
(iii) right and left conductive deafness
(iv) right sensorineural deafness
(v) left sensorineural deafness
49
4.2 You are asked to review the following Rinne and Weber results:
Right Rinne positive

Left Rinne negative
Weber to the left
What would you expect the audiogram to show?
(i) normal right and left ear

(ii) normal left and conductive loss right
(iii) normal right and conductive loss left
(iv) normal right and sensorineural loss left
(v) normal left and sensorineural loss right
AHMED HAMMOODI
50
4.3 You are shown the following audiogram of a six-year-old who has a
complication of a childhood illness:
10
520
V1
[lJ
::9,30
VI
Qj
,,Q 40
v
(lJ
Cl
so
60
400 800 1600 2000 5000

Hertz (Hz)
AHMED HAMMOODI
(a) What does it show?
(i) left conductive loss
(ii) bilateral conductive loss
(iii) bilateral sensorineural loss
(iv) left sensorineural loss
{v) right sensorineural loss
(b) Name a possible childhood illness.
4.4 A four-year-old boy is tired during the day and dribbling a lot. He is
developmentally normal.
(a) What two questions would you ask?
(b) Name two tests to confirm the diagnosis.
51
.. 4.5 A child has sensorineural deafness on the left. What would be the
results from Rinne and Weber tests?
c>
a.
c;·
3 Rinne left Rinne right Weber
....ID (i) - ive +ive right
~
(ii) -ive -ive right
.0
c(!) (iii) +ive -ive left
v>
.-+
(iv) +ive +ive centra l
c»
::i
(v) - ive -ive left
v>
-!">
l.n
~
O'I
4.6 These are the tympanogram results from a three-year-old boy.
ml compliance ml compliance
AHMED HAMMOODI
-200 +200 -200 +200
Pressure d apa Pressure dapa
Right ear Left ear
What diagnosis does it suggest?
(i) otitis media left

(ii) otitis m edia right
(iii) perforation left
(iv) poor seal on the left
(v) poor seal on the right
52
ANSWERS (1)
4.1 (ii)
Comments: Always make sure you indicate which ear. The hearing loss
is less than 40 d ecibels, so is conductive.
4.2 (iii)
Normal right ear.

Comment: The ear that is Rinne negative is always the abnormal one.
4.3 (a) (v)
(b) Mumps or meningitis.
4.4 (a) Does he snore? Does he have pauses in his snoring?
(b) Overnight saturations. Arterial blood gas while asleep.

Comment: Diagnosis is usually made on history.
AHMED HAMMOODI
4.5 (i)
4.6 (i)
Comment: Left tympanogram flattened and shifted to the left.
53
Helpful hints
AUDIOMETRY
1. Which ear? This is easily remembered by Right 0 (chaps), and therefore

Xis left.
2. Normal hearing is from 0 ~ -20.
3. Conductive hearing loss from -20 ~ -40.
4. Sensorineural loss is from -40+.
5. If the examiners give you a conductive hearing loss of greater than -40
then they will also give bone conduction, which will be a lot better.
6. If the examiners give you a sensorineural hearing loss of less than -40
then they will show bone conduction at a similar level.
AHMED HAMMOODI
Examples
a b
20 _.......o......._ _.--o 20
0 o-o
40 40
60 60 ~x
Conductive loss Sensorineural
Right ear Left ear
c d
20 c--c-c--c 20
40 40 ~~
0-0-0--0
60 60
Conductive Sensor[ neural

Right ear Left ear
54
RINNE AND WEBER TESTS
The Rinne test compares air and bone conduction for one ear, and is
performed by putting the tuning fork near the ear until it cannot be heard,
then putting it on the mastoid process. If it is audible again then it is Rinne
negative.
The Weber test compares the bone conduction of both ears. The tuning
fork is placed in the centre of the forehead.
1. The ear that is Rinne negative is always the abnormal one.
2. If the Weber test is towards the abnormal ear it is conductive hearing

loss.
3. If the Weber test is away from that ear it is sensorineural hearing loss.
4. If both Rinne tests are negative then:
(a) Weber central means that both ears have either sensorineural or
AHMED HAMMOODI
conductive loss.
(b) Weber towards one ear means that ear has conductive loss and the
other ear sensorineural loss.
55
QUESTIONS (2)
4.7 This is the audiogram of a five-year-old girl:
10
o:J 30
~
] 40
,,~~~.--~---.~~~~~---.~~~
400 800 1600 2000 5000

Hertz (Hz)
AHMED HAMMOODI
(a) Which ear is it?
(b) Add:
(i) bone conduction for sensorineural deafness
(ii) bone conduction for conductive deafness
4.8 These are the tympanograms of a two-year-old boy:
ml compliance ml compliance
- 200 +200 -200 +200

Pressure da pa Pressure dapa
Right ear Left ear
If the left ear is normal, what would you expect to see in the right ear
on examination?
56
4.9 This is the hearing test of a six-year-old boy with Dow n's syndrome:
Rinne negative
l>
Right c
Left Rinne negative Q.
Weber central
c;·
3
....ID
-<
0
c
(a) What is the d ifferential diagnosis? II>
.....
VI
6'
:J
(b) Which diagnosis is more likely? VI
"""
4.10 This is an audiogram of a three-year-old referred to an ENT surgeon:

t
0
1oc-0~
AHMED HAMMOODI
~ 20
0
~
al 30
~
.,,
] 40
·;::;
<I.I
Cl 50
60 /0~0/0~
0 0
~--~---'
400 800 1600 2000 5000

Hertz (Hz)
(a) What does it show?

(i) severe sensorineural loss - right
(ii) moderate sensorineural loss - left
(iii) severe conductive loss - left
(iv) severe conductive loss - right
(v) m oderate conductive loss - right
(b) Does he need an operation?
57
ANSWERS (2)
4.7 (a) The left ear.
(b)
)>
::J 10
"'~
..,ID
"' ...... 20
~ 0
..., !:!2
~ .a:J
~
30
0 _.!!!
] 40
'Ci (i)Sensorineural
(IJ
Cl so - ---:=!--_,__.....-J--J-J
~x-~-x-x-x
60 x
AHMED HAMMOODI
400 800 1600 2000 5000
Hertz (Hz)
4.8 The right ear may be normal, but may have a thin eardrum
(hypermobile) or ossicular discontinuity.
4.9 (a) Bilateral conductive or sensorineural hearing loss.
(b) Conductive.
Comment: Conductive hearing loss is more common in Down's
syndrome babies, but also in any child with a facial problem such as
cleft palate or snoring.
4.10 (a) (iv)
(b) Yes.
58
Neurology
QUESTIONS (1)
5.1 A 13-year-old boy is admitted with his second generalized tonic-clonic

seizure, but on closer questioning is said to be quite 'jumpy' in the
mornings, such that he tends to spill drinks at breakfast and drop his
AHMED HAMMOODI
pen at school. The EEG findings are shown below.
59
(a) Describe the EEG:
(i) generalized regular spike wave complex
(ii) burst suppression
z
ID
(iii) generalized irregular spike wave complex
c (iv) left-sided irregular spike wave complex
a0 (v) generalized spike discharge
IQ
'<
0
c: (i) juvenile myodonic epilepsy
rt>
.....
"' (ii) benign Rolandic epilepsy
()'
::J (iii) absence epilepsy
Y' (iv) partial epilepsy
(v) complex partial epilepsy
AHMED HAMMOODI
60
5.2 At six days old, a baby girl developed myoclonic and tonic seizures,
nnresponsive to standard anti-epilepsy drugs. Daily seizures continued
unabated, and the EEG at four weeks of age is shown:
AHMED HAMMOODI
61
(a) Describe the EEG pattern:
(i) generalized irregular spike wave pattern
(ii) hypsar rhythmia
(ill) temporal spike discharges
(iv) normal
(v) burst suppression pattern
(b) Suggest a likely diagnosis.
AHMED HAMMOODI
62
5.3 A seven-year-old girl was referred because of concerns about lapses in
concentration and deterioration in school work:
z
ID
c
lOOµV
I Fp2-F8 a0
IQ
I F8-T4 '<
I T4-T5 .0
c
ro
I T6-02 ....
VI
5·
I Fp1-F7 =i
V1
I F7- T3 w
I T3-T5
I TS-01
I Fp2-F4
I F4-C4
I C4-P4
AHMED HAMMOODI
I P4-02
I Fp1-F3
I F3-C3
I C3-P3
I P3-01
1 sec 10:41:1s 10:41:16 10:41:11 10:4 1:1s 10:4 1:19 10:41:20 10:41:21 10:41:22 10:41:23 10:41:24
(a) What does the EEG demonstrate?

(i) generalized 3 per second spike and wave discharge
(ii) burst suppression pattern
(iii) h ypsarrhythmia
(iv) normal
(v) generalized spike discharges
(b) What practical manoeuvre may help with the diagnosis in clinic?
(c) What is the diagnosis?
63
5.4 An eight-month-old infant, admitted with crying episodes, is noted to
have intermittent abnormal movements causing distress:
AHMED HAMMOODI
(a) What does his EEG show?
(i) normal
(ii) generalized spike discharges
(iii) hypsarrhythmia
(iv) burst suppression pattern
(v) temporal spike discharges

(i) neonatal myoclonic epilepsy
(ii) HIE grade III
(iii) normal
(iv) infantile spasms
(v) drug withdrawal
64
5.5 An 11-year-old girl presented with a three-month history of episodic
staring lasting two minutes, accompanied by excessive swallowing and
occasional inappropriate laughter:
AHMED HAMMOODI
5
7
8
(a) Describe the EEG findings.

(i) left temporal spike discharge
(ii) right temporal spike discharge
(iii) left parietal spike discharge
(iv) right parietal spike discharge
(v) left occipital spike discharge
(c) What is the most appropriate next investigation?
65
ANSWERS (1)
z 5.1 (a) (iii)

ID
c
0 (b) (i)
0 Comment: History and age are important: 'jumpy' with spills in the
IQ
'< morning (or when tired)""' myoclonic seizures; often presents as
~
::::J first/second generalized tonic--clonic seizure; EEG generalized (across
~
Cl)
whole montage) with short-lived spike-wave discharge.
......
VI
~
...... 5.2 (a) (v)
I
V1
w
(b) Severe early neonatal myoclonic epilepsy.
Comment: History, age, very early onset and progressive (malignant).
EEG shows bursts of abnormal chaotic activity on a very flat virtually
iso-electric background - very ominous and typical of burst
suppression.
5.3 (a) (i)
AHMED HAMMOODI
(b) Hyperventilation.
(c) Childhood onset typical of absence epilepsy.
Comment:
- The history may not make specific reference to absences.
- Watch out for the same question with normal EEG (the diagnosis
may then be attentional/learning difficulties).
- Age is important for precise diagnosis (childhood onset, juvenile

onset etc.)
- Do not use the term petit mal.
- Slower frequency may indicate atypical absence epilepsy.
- Beware hyperventilation indicator on montage.
This is a blueprint (diagnostic) EEG.
66
5.4 (a) (iii)
(b) (iv)
Comment: History - a common presentation masquerading as colic. It

could be West's syndrome, but there is no specific mention of
developmental delay at presentation. The underlying diagnosis (for
example, tuberous sclerosis) cannot be determined by EEG alone.
Blueprint EEG diagnostic when present - chaotic disorganized
background with multifocal high-amplitude spikes and slow waves.
V1
5.5 (a) (i) t
Y1
V1
(b) Complex partial seizures.
(c) MRI of the brain.
Comment: History- episodes too long for typical absence, and

associated with unusual mannerisms, suggest complex partial seizures
(formerly known as temporal lobe epilepsy). EEG - focal spike
AHMED HAMMOODI
discharges in leads 6 and 7 (left temporal region). MRI is now the first-
choice investigation for looking at temporal lobes in detail.
67
Helpfu l hints
z
ID
THE EEG
c
0
'8 1. Read the history carefully as this can give the diagnosis before looking at
'< the EEG.
I
I'll
"§: 2. EEG abnormalities are likely to be obvious or 'blueprint' I diagnostic.
c
';;1"
~ 3. Montage (that is, orientation of leads):
"'
• Left is left and right is right as you look at the montage.
• Labelling may vary but should always allow you to match up the
labels on the montage with the corresponding leads on the EEG (and
hence identify relevant area of the brain).
• Ignore the montage if the abnormality is apparent across all leads
(that is, generalized).
• If there is no montage in the examination the EEG is very likely to
AHMED HAMMOODI
show a generalized abnormality.
4. Basic principles:
• Is the abnormality across all leads? If so, this is a generalized epilepsy.

• ls the abnormality across the leads of one side/one or two leads only?
If so, this is a partial/focal epilepsy.
• Is the abnormality paroxysmal, for example spike-wave
discharges I spike discharges?
• Is the abnormality periodic, for example burst suppression or SSPE?
• Is the abnormality continuous, for example hypsarrhythmia or status
epilepticus?
• Is the abnormality rhythmic or disorganized I chaotic?
68
5. Look for:
(a) Second (time-scale) marker to identify frequency (for instance,

3 per second spike-wave discharge).
(b) Photic stimulation marker - may precede photo-paroxysmal

response.
(c) Hyperventilation marker - may precede 3 per second spike-wave

discharges.
(d) ECG trace (at the bottom of the EEG recording). This may identify
alternative (for example, cardiac) cause for collapse.
AHMED HAMMOODI
69
QUESTIONS (2)
5.6 A 14-year-old girl with moderate learning difficulties and myoclonic

epilepsy presented with a 24-hour history of unresponsiveness, staring
and fumbling with her clothes. The EEG shown is representative of the
whole 20-minute EEG recording:
AHMED HAMMOODI
(i) encephalopathy
(ii) complex partial status epilepticus
(iii) Lennox-Gastaut syndrome
(iv) subacute sclerosing panencephalitis
(v) benign
(b) What would be your immediate management?
70
5.7 A 10-year-old boy, initially referred to the child psychiatrist with a
.,
behavioural disorder, has shown a progressive deterioration in written
work over the last six months at school. More recently he has fallen
over a number of times, appearing to lose his balance: 2
ID
c
a0
IC
'<
.0
c
11)
;.
0
:::l
lJ1
-.J
AHMED HAMMOODI
4
(a) What does his EEG show?

(i) normal
(ii) hypsarrhythmia
(iii) burst suppression wave
(iv) large-amplitude periodic slow-wave complexes
(v) spike waves discharge

(i) encephalopathy
(iii) Lennox- Gastaut syndrome
(v) benign Rolandic
71
5.8 An eight-year-old boy presents in the early hours of the morning,
following his first generalized tonic-clonic seizure. On closer
questioning, it is found that he has experienced frequent episodes of
~ unilateral facial paraesthesia for four months, followed by choking
c sensations and twitching of the lips and cheek. These occur on
a0 awakening, and he is unable to communicate during such episodes:
IC
'<
0
c
ID
"'
......
6'
::i
V1
Oo
Fp2-F8
2 F8-T4
AHMED HAMMOODI
3 ~ T4-T6
4 T6-02
5 Fp1-F7
6 F7- T3
7 T3-TS
8 TS-01
(a) What does his EEG demonstrate?

(i) unilateral right sided centro-temporal spike waves
(ii} unilateral left sided centro-temporal spike waves
(iii) bilateral centro-temporal spike waves
(iv) bilateral centro-temporal spikes
(v) normal
72
(i) encephalopathy
(iii) Lennox-Gastaut syndrome z
ID
(iv) subacute sclerosing panencephalitis c
(v) benign Rolandic a0
IQ
'<
0
c
11>
~
a·
::I
U1
Oo
AHMED HAMMOODI
73
5.9 A seven-year-old boy with severe learning difficulties was diagnosed
with West's syndrome at six months of age, and continues to
experience frequent multiple seizure types (including tonic, atonic and
~ myoclonic seizures):
c
0
0
IQ
'<
0
c
ID
~
5·
:I
U1
io
AHMED HAMMOODI
(a) Describe his EEG:
(i) normal
(ii) generalized multiple discharges of spike-wave and poly-
spike complexes
(iii) hypsarrhythmia
(iv) burst suppression
(v) generalized spike-wave complexes

(i) encephalopathy
(iii) Lennox-Gastaut syndrome
(v) benign Rolandic
74
5.10 A teenage boy has juvenile myoclonic epilepsy:
(a) What has the technician done? AHMED HAMMOODI

(i) hyperventilation
(ii) sleep-deprived EEG
(iii) got the child to talk
(iv) nothing
(v) photostimulation
(b) What might the technician have witnessed during this period of
the recording?
75
ANSWERS (2)
2 5.6 (a) (ii)

ID
c
~
0 (b) Intravenous bolus of diazepam.
0 Comment: The history is very suggestive of complex partial/ atypical
~ absence/non-convulsive status epilepticus. EEG shows a virtually
)>
::J continuous slow wave activity across all leads, and throughout the
"'
~ whole of the recording. Treatment is with intravenous benzodiazepine
ID
.... rather than rectal (because of 24-hour history). May need infusion; this
"'
vi
er, is often undertaken 'under EEG control', but this is not essential and
I will usually see the patient 'wake up' following/during administration.
~
0
5.7 (a) (iv)
(b) (iv)
Comment: Look at the history and age (in fact 10 years is quite young
for SSPE). Patients are often referred as having behavioural/psychiatric
problems. There is progressive neurological regression including
AHMED HAMMOODI
ataxia. EEG shows typical periodic appearance across all leads.
5.8 (a) (i)
(b) (v)
Comment: The history and age are important. Typical presentation in
early hours of the morning (usually during sleep); typical history of
partial sensory motor seizures (involving face, plus or minus upper
limb). Beware, as this often presents as apparent first generalized
tonic-clonic seizure (but is a partial epilepsy). Alternative
label/ diagnosis is 'benign partial epilepsy of childhood with centro-
temporal {Rolandic) spikes'. Blueprint EEG and diagnostic.
5.9 (a) (ii)
(b) (iii)
Comment: History - Important cause of developmental arrest-
intractable multiple seizure types are often resistant to standard anti-
epileptic drugs. Age at presentation is important. Previous history of
West's syndrome is common. EEG is not as chaotic as hypsarrhythmia -
multiple spikes and poly-spikes are typical.
5.10 (a) (v)
(b) Myoclonic jerk.

Comment: Look at the EEG photic stimulation ' markers' . It would be
reasonable to suggest myoclonic jerk, absence or eyelid flickering as a
76 clinical (photo-convulsive) response. May have similar EEG photo-
paroxysmal response without any clinical change.
Genetics
QUESTIONS (1)
6.1 You are seeing patients (a) and (b) below who show you the following
family tree:
AHMED HAMMOODI
(a)
(b)
(i)
77
(a) What is the mode of inheritance?
(i) autosomal recessive
(ii) autosomal dominant
Cl (iii) X-linked recessive
"'
:I (iv) X-linked dominant
"'....;::;·
Ill
(v) mitochondrial
.0 (b) If you were seeing (a) and (b) antenataUy, what is the chance of (a)
c
11)
"'
...... having the condition?
o·
::J (i) 1/8
?" (ii) 1/10
(iii) 1/12
(iv) 1/14
(v) 1/16
AHMED HAMMOODI
78
6.2 The following family history has been worked out:
c=Carrier
What is the mode of inheritance?

(iii) X-linked recessive
(iv) X-linked dominant
AHMED HAMMOODI
(v) mitochondrial
6.3 A baby is born with a cleft palate and found to have a heart murmur.
This is shown to be tetralogy of Fallot.
(a) What is the likely diagnosis?

(i) Down's syndrome
(ii) Crouzon's syndrome
(iii) Di George's syndrome
(iv) Patau's syndrome
(v) Edwards' syndrome
(b) Name a confirmatory test.
79
6.4
G'\
ro
:s
ro....
ri'
Ill
0
c
11>
.....
VI
5·
:J
VI
O"I
t
O"I
O"I
What is the mode of inheritance?
AHMED HAMMOODI
(v) mitochondrial
6.5 The karyotype is 46 XY - 14 + t (14q 2lq).
Describe the above.
6.6 A girl is admitted, drowsy, having had a history of a viral illness. There
is a family history of SIDS and her mother has an increased orotic acid.
(b) What is its mode of inheritance?

(ii) autosomal domina nt
(v) mitochondrial
(c) How will you confirm the diagnosis?
80
ANSWERS (1)
'!
6.1 (a) (i)
(b) (iii)
Comment:
(1)
(3)
(2)
AHMED HAMMOODI
Look at one generation at a time.
For example (1) =
Condition Carrier Carrier Normal
As we already know that (1) has not got the condition, %are carriers.
Then (2) = ~ because we assume that (1) marries a non-carrier.

(3) Again, assuming that the father is a non-carrier then the mother
must pass the affected gene on.
81
6.2 (iii)
Comment: The father passes it to all his daughters, but they are only
carriers, and none of his sons. The mother can make daughters carriers
and affect sons.
6.3 (a) (iii)
(b) FISH assay looking at chromosome 22.

Comment: This is an example of best fitting a syndrome to a set of
clinical features.
6.4 (iv)
Comment: Always look to see who can inherit from whom. It could be
autosomal dominant but the tree shows two sons not getting it from
their father.
6.5 Male unbalanced Robertsonian 14, 21 translocation.

Comment: Do not forget to mention the sex of the fetus.
6.6 (a) Omithine carbamyl transferase deficiency.
AHMED HAMMOODI
(b) (iii)
(c) Urinary orotic acid levels.
82
Helpful hints
GENETICS
1. Autosomal dominant + recessive can go from mother and father to sons

and daughters.
2. Autosomal recessive usually results from relations marrying.
3. X-linked recessive: mothers can only give it to sons and daughters have
50 I 50 chance of carriage.
4. X-linked recessive: fathers cannot give it to sons and all daughters carry it.
5. X-linked dominant: mothers may give it to sons or daughters (50/50).
6. X-linked dominant: fathers cannot give it to sons and give it to all

daughters.
AHMED HAMMOODI
7. Do not forget the occasional mitochondrial inheritance which comes
only from mothers.
83
QUESTIONS (2)
C\ 6.7 A 19-year-old girl asks to see you. Her brother has cystic fibrosis.
ID
;:,
....
ID
;:;·
What is the approximate risk of her child having it?
Ill
0
c
(i) 1in100
ID (ii) 1in120
"'
.-+
a· (iii) 1in160
::J
"' (iv) 1in200
O"I
:....I (v) 1in360
O"I
i.o
6.8 You are asked to see a four-month-old girl who has lines of warts on her
limbs. She was noted to have some vesicles in the first few days of life.
(b) What is the mode of inheritance?
AHMED HAMMOODI
(v) mitochondrial
6.9 You are asked to see a 13-year-old girl because of her short stature. She
has not entered puberty. Her LH/FSH are greatly raised.
(b) How would you confirm this?
84
6.10
a u u a
0
c
<D
V>
r+
(5'
:J
V>
?'
0
I
?'
u a a
u"unaffected
a"affected
u a
If this is not X-linked, what is the mode of inheritance?
AHMED HAMMOODI
(v) mitochondrial
6.11 You are reviewing a one-year-old child known to be hypertensive

(127 /65). He has the following investigation results:
Extra part of chromosome 15 on 19
Peripheral pulmonary branch stenosis
Horseshoe kidney - bilateral patchy uptake left 55% and right 45'Yo.
(a) Why is he hypertensive?

(i) chromosome anomaly
(ii) cardiac lesion
(iii) renal scar
(iv) horseshoe kidney
(v) Essential hypertension
(b) Name a possible treatment.
85
6.12 You are reviewing a nine-year-old boy with learning difficulties who
you last saw six months ago. He appears to have a prominent jaw and
large, prominent ears. You also note some stereotype behaviour. You
"....::s
ID
ID
feel he has fragile X and chromosomal analysis confirms this. In what
range would you expect the mother's repeat frequency to be?
n·
Ill
(i) <10
0 (ii) 10-50
r::
(!)
~ (iii) 50-200
5· (iv) 200-500
:I
VI
!" (v) 500-1000

__.
N
I
!" 6.13 A couple come to you for genetic counselling. Their first child was a
__.
w late miscarriage. Chromosome analysis showed Down's syndrome
caused by translocation. This leads you to check the parents'
chromos.omes.
(a) If the mother is a carrier the recurrence risk is:

(i) 1- 3%
(ii) 3-6%
AHMED HAMMOODI
(iii) 6-10%
(iv) 10-20%
(v) 20-50%
(b) If the father is a carrier the recurrence risk is:

(i) l-3'Yo
(ii) 3-6%
(iii) 6-10%
(iv) 10- 20%
(v) 20-50%
86
6.14 A family tree is shown below:
Cl
ID
:I
...;:;·
ID
Ill
.0
c
11>
....
"'
6'
:J
Died
?'
~
Died
The pattern of inheritance is:
{i) autosomal recessive

AHMED HAMMOODI
{iv) mitochondrial
(v) X-linked dominant
87
ANSWERS (2)
" 6.7 % x Y. x ~. = Xw = (ii)

ID
::s
~ % = her chance of being a carrier.
~·
Y. = chance of offspring having cystic fibrosis if both parents have it.
%0 = carrier rate (between %0 and ~).
~ 6.8 (a) Incontinentia pigmenti.
(b) (iv)
Comment: May also be presented as male deaths.
6.9 (a) Turner's syndrome.
(b) Chromosomes looking for 45XO.
AHMED HAMMOODI
6.10 (v)
Comment: Inheritance is only passed down the female line but to
either sex.
6.11 (a) (iii)
(b) ACE inhibitor.
6.12 (iii)
6.13 (a) (iv)
(b) (i)
6.14 (v)
Comment: You are not being asked to show your knowledge of the
chromosomal diagnosis.
88
Statistics
QUESTIONS (1)
7.1 A trial of a new test gives the following results:
Has disease Does not have disease
AHMED HAMMOODI
Positive 90 10
Negative 10 90
(a) What is the sensitivity?

(i) 10%
(ii) 90%
(iii) 500%
(iv) 100%
(v) 5%
(b) What is the specificity?

(i) 10%
(ii) 90%
(iii) 50%
(iv) 100%
(v) 5%
89
7.2 On auditing urine results you find the following:
Pure growth organism Multiple growth
>50 WBC 95 15
<50 WBC 10 200
(a) What is the positive predictive value?

(i) 95/105
(ii) 95/110
(iii) 95/210
(iv) 95/200
(v) 95/320
(b) What is the negative predictive value?

(i) 10/210
(ii) 200/215
(iii) 200/210
AHMED HAMMOODI
(iv) 10/105
(v) 10/320
90
ANSWERS (1)
7.1 (a) (ii)
(b) (ii)
7.2 (a) (ii) )>

::J
VI
~
ID
...,
(b) (iii} VI
:-.i
_.
I
......
iv
AHMED HAMMOODI
91
Helpfu l hints
~ 2 x2 CHARTS
....
Ill
iii'
....
;;· Sensitivity = the proportion of people with the condition that the test
"'I picks up.
ro
.....
"'O
c: Specificity= the proportion of people without the condition that have
";:j"
:3 a negative test.
....+
"'
Positive predictive value = the chance that someone has the condition
if the test is positive.
Negative predictive value= the chance that someone does not have
the condition if the test is negative.
For example:
AHMED HAMMOODI
a
Sensitivity = a+c
Specificity = d
d+b
a
Positive predictive va lue = a+b
Negative predictive value = d
d+c
Have Do not
condition have condition
Positive test a b
Negative test c d
Comment: Make sure the chart is correctly oriented.
92
QUESTIONS (2) .
7.3 A test has a positive predictive value of 90 and a negative predictive
...
Ill
value of 95. Draw an appropriate 2 x 2 table.
.
Ill
iii'
i=i'
Ill
.0
c::
(!)
.....
"'5·
:i
"'-..J
w
I
-..J
~
7.4 List five of the criteria for a screening programme.
AHMED HAMMOODI
93
ANSWERS (2)
7.3
Have condition Do not have condition

)>
:J Positive 90 10
~
rt)
Negative 5 95
.....
VI
-..J
w
~
:i:. 7.4 The condition is a serious one.
An acceptable test can pick up the condition before it is clinically

detectable.
The disease course can be altered by early detection.
The test is highly sensitive and specific.
AHMED HAMMOODI
The programme is cost effective.
94
Electrolytes
QUESTIONS (1)
8.1 The following blood results were obtained from an 18-month-old

failing to thrive:
AHMED HAMMOODI
Sodiu m 127 mmol/L
Potassium 2.6 mmol/L
Ch loride 80 mmo l/L

(i) salt-losing congenital adrenal hyperplasia
(ii) salt poisoning
(iii) Bartter's syndrome
(iv) pseudo-Bartter's syndrome
(v) Addison's disease
(b) 'What is the pathophysiology?
95
8.2 The following results occurred in a three-day-old 26-week gestation
neonate while on a radiant warmer:
Sodium 147 mmol/L

Urea 6.0 mmol/L
Creatinine 97 ~1 mol/L

(i) normal
(ii) inappropriate ADH
(iii) diabetes insipidus
(iv) sodium overload
(v) dehydration
(b) Give two management strategies.
AHMED HAMMOODI
8.3 The following blood results were obtained on an ill six-year-old:
Sodium 135 mmol/L

Potassiu m 4.6 mmol/L
Urea 10.0 mmol/L
Osmolality 310 mOsm/kg
(a) What blood result is missing?
(b) Approximately what should the result be?

(i) 5
(ii) 10
(iii) 15
(iv) 20
(v ) 25
96
8.4 A 10-year-old child w ith diabetes is admitted semi-conscious. Urgent
blood results are as follows:
Blood glucose 40+ mmol/L

Osmolality 350 mOsm/kg
pH 7.26
What is the diagnosis?

(i) ketotic hyperglycaemia coma
(ii) non-ketotic hyperglycaemia coma
(iii) ketotic hyperosmolar coma
(iv) non-ketotic hyperosmolar coma
{v) drug overdose
AHMED HAMMOODI
97
ANSWERS (1)
8.1 (a) (iii)
(b) Vascular unresponsiveness to angiotensin; renal loss of chloride.

Comment: You need to always try to make the data fit the answer. In
this case there is a low chloride; it may also give the pH. In Bartter' s
syndrome the pH shows an alkalosis; Pseudo-Bartter's syndrome may
produce similar results but there is not enough information.
!'_.Cl 8.2 (a) (v)
6o
:::. (b) Place in a humidified incubator and increase the fluids.
Comment: Always put answers in order of importance as they may
include things like 'recheck electrolytes later, cover with bubble sheet',
and so on.
8.3 (a) Blood glucose.
AHMED HAMMOODI
(b) (iv)
Comment: Whenever osmolality is mentioned, work out approximately
what it should be, for example 2 x [Na + K] + urea + glucose - often
one is missing in the question.
8.4 (iv)
Comment: The high glucose would be appropriate for diabetic
ketoacidosis (DKA) but you would expect a low pH if the patient was
semi-conscious.
98
Helpful hints
ELECTROLYTE AND DEXTROSE SOLUTIONS
1. Dextrose as mg/ kg/h
10 x % dextrose x ml/h
wtx60
For example, 1 kg neonate on 7.5% dextrose at 120 ml/kg/ day
10 x 7.5 x 12%.
60
mg/ kg/ h = -10 - x 5 -~

x 7.5-- 37.5 - 6.25
60 6
AHMED HAMMOODI
N ormal is 5 mg/kg/h. There is a need to investigate only if low BM and
> 12 mg/ kg/ h.
2. Sodium: formula to work out deficit:
0.6 x deficit x wt in mmol/L
Be careful as dextrose is usually expressed in mg whereas everything else

is in mmol.
99
3. 0.18% = 30 rnmol/L
0.9% = 150 mmol/L
Note that 30% is usually easier to remember per millilitre
= 5mmol/ml
Examples
(a) 12 kg child with sodium 115 mmol/L
Normal 135 mmol/L =:}deficit= (135 -115) x 0.6 x 12 = 144 mmol
(b) Neonate on 1 ml/h of 0.45% saline
150 ml/kg/ day of dextrose 10°/., + 0.18% saline
Is this neonate getting enough sodium?
AHMED HAMMOODI
(They usually need 4 mmol/kg/ day)
Assume 1 kg
(24 x 75) (150 x 30)

+ 6.3 mmol/kg/day
1000 1000
4. Potassium: 10 mmol/500 ml= 0.15% KCL
100
QUESTIONS (2)
8.5 A child has a sodium of 118 mmol/L. The child weighs 20 kg and you
want to increase his sodium to 135 mmol/ L.
What is the deficit?

(i) 104
(ii) 154
(iii) 204
(iv) 254
(v) 304
8.6 A seven-day-old neonate who is known to have septicaemia has the

following results from his arterial line:
Sodium 135 mmol/L

AHMED HAMMOODI
Urea 12.4 mmol/L
Creatinine 165 µmol/L
(a) What is the most likely cause of his high potassium?

(i) renal failure
(ii) inappropriate TPN
(iii) inappropriate ADH secretion
(iv) pre-renal failure
(v) h aemolysis
(b) List three treatment options to bring it down.
8.7 A four-da y-old 28-week gestation neonate had a blood sugar reading of
1.6 mmol/L and this was only stabilized on 150 ml/kg / day of 10%
dextrose.
(a) Does this warrant further investigation?
(b) Justify your answer.
101
8.8 You are asked to review a 29-week-gestation neonate who is one day
old with poor urine output. The following results are available:
Hb 14.3 g/dl
WBC 3.5 x 109 /L
Platelets 139 x 109 /L
Sodium 127 mmol/L
0 Potassium 3.3 mmol/L
c(!)
~
o·
:J
VI
00
(a) What is the most likely diagnosis and cause?
cri
00 (i) fluid overload
i.o
(ii) inappropriate ADH
(iii) inappropriate TPN
(iv) Bartter' s syndrome
(v) pseudo-Bartter's syndrome
(b) What fluid management is appropriate?
AHMED HAMMOODI
8.9 A 1 kg baby is receiving the following i.v. fluids:
UAC 0.45% NaCl 1 ml/h
Peripheral line 200 ml/kg/day of dextrose 10% + 0.18% NaCl
How many mmol/kg of sodium is this baby on?
(i) 5.8
(ii) 8.8
(iii) 9.8
(iv) 6.8
(v) 7.8
102
ANSWERS (2)
8.5 (iii) (135 - 118) x 0.6 x 20 = 204 mmol

Comment: See hints.
8.6 (a) (iv)
(b) Fluid bolus; intravenous B dextrose and insulin; intravenous

salbutamol.
Comment: Try to expand renal failure to fit with the history given.
8.7 (a) No.
(b)
s
+G-x 4-0- x
=10 mg/kg/h
60
AHMED HAMMOODI
-:J-
Do not investigate until >12 mg/kg/h.

Comment: Write down the calculation, then look at the answers.
8.8 (a) (ii)
(b) Fluid restriction.

Comment: Poor urine output is often because neonates are dehydrated,
but here the sodium is low.
103
8.9 (v)
Umbilical artery catheter (UAC) 24 ml/ day
0.45% NaCl = 75 mmol/L
3 3
~ 9
-tee& x ~ = S mmol
-4()...
Peripheral line 150 ml/ day
0.18% = 30 mmol/L
_:. x 3a =6 mmol
AHMED HAMMOODI
Total = 7.8 mmol
104
Emergency
medicine
QUESTIONS (1)
9.1 You are crash called to a two-year-old in A&E who is unresponsive to

initial attempts to resuscitate.
AHMED HAMMOODI
(a) How much would you expect him to weigh?
(i) 8 kg
(ii) 10 kg
(iii) 12 kg
(iv) 14 kg
(v) 16 kg
(b) What is an appropriate dose of adrenaline if administered via the

endotracheal tube?
(i) 0.8 ml of 1 in 1000
(ii) 1 ml of 1 in 10 000
(iii) 1.2 ml of 1 in 1000
(iv) 0.8 ml of 1 in 10 000
(v) 1.4 ml of l in 1000
9.2 A five-year-old child in intensive care is intubated with intravenous

access, but has a cardiac arrest.
(a) What are the first two things to do?
(b) What are the first and subsequent doses of intravenous

adrenaline?
105
9.3 A three-year-old patient has a prolonged febrile convulsion.
(a) What is the rectal dose of diazepam?

m (i) 56 mg
3
..,11> (ii) 10 mg
IQ (iii) 3 mg
11>
::J (iv) 4.8 mg
~
(v) 5.6 m g
3
11>
a.
a:
::J
(b) What is the loading dose of phenytoin?
(i) 126 mg
11>
0 (ii) 252 mg
c:
Cl) (iii) 504 mg
~ (iv) 126 µg
5·
::J
Ill
(v) 252 µg
~
i..v
I
~
U1 9.4 You are urgently called to A&E to see a six-week-old baby who is
centrally cyanosed, but not in distress. The casualty officer has started
facial oxygen and the saturations are 76%.
AHMED HAMMOODI
(b) What is your first action?
9.5 The following blood gas was obtained from a sick eight-year-old:
pH 7.15
Anion gap 40 mmol/L
K+ 5.7 mmol/L
What is the likely diagnosis?

(i) diabetic ketoacidosis
(ii) sepsis
(iii) proximal renal tubular acidosis
(iv) distal renal tubular acidosis
(v) aspirin overdose
106
9.6 A pre-term neonate is being ventilated for respiratory distress
.,
syndrome on the following setting:
Rate 60 b.p.m.
Inspiration 0.3 s
Pressure 24/4
02 40%
He is active and over the course of 15 min his oxygen requirement

goes up.
His gas is:
7.1
90 mmHg
45 mmHg
AHMED HAMMOODI
(a) Give three possible explanations for this change.
(b) Give management instructions in appropriate order.
9.7 A neonate who has been ventilated for two days has a base deficit of
16. He has had a bolus of saline and you want to give him bicarbonate.
His weight is 1.5 kg.
How much is a half correction of his acidosis?

(i) 2 ml of 4.2%
(ii) 4 ml of 4.2%
(iii) 6 ml of 4.2%
(iv) 8 ml of 4.2%
(v) 10 ml of 4.2%
107
ANSWERS (1)
9.1 (a) (iii) (Age + 4) x 2 = 12 kg
(b) (iii) 0.1 ml/kg of 1 in 1000 = 1.2 ml

Comment: All emergency medicine follows national recognized
guidelines - learn them.
9.2 (a) Check airway and breathing.
(b) First dose: 0.1 ml/kg of 1 in 10 000 = 1.8 ml

Subsequent dose: 1.8 ml of 1 in 1000.
9.3 (a) (v) 14 x 0.4 mg = 5.6 mg

~
....
~
:...i (b) (ii) 14 x 18 mg= 252 mg, but only if not already on phenytoin
Comment: Writing the extra guide in (b) shows a greater understanding.
9.4 (a) Congenital heart disease.
AHMED HAMMOODI
(b) Stop the oxygen.
Comment: The child is blue but happy.
9.5 (i)
Comment: Acidosis with increased anion gap.
9.6 (a) Blocked/ dislodged tube; pneumothorax; worsening disease.
(b) (1) Listen to air entry. (2) Cold light chest to exclude
pneumothorax. (3) Reintubate as needed and then increase
ventilation setting.
Comment: Think also sepsis and intraventricular haemorrhage. If there
is coordination with the ventilator you may need to increase sedation.
9.7 (iv) 1.5 x '%= 8 x 0.5 = 8 ml of 4.2% bicarbonate.
108
Helpful hints
BLOOD GASES
1. Always convert the gas into the units you are used to, using the
factor 7.5.
For example, mmHg = 7.5 x kPa.
2. Make sure the diagnosis fits the age of the patient.
For example:
Alkalosis in a six-week-old? Think pyloric stenosis.
Alkalosis in a teenager? Think aspirin.
AHMED HAMMOODI
3. Decide whether the gas demonstrates a respiratory or a metabolic
problem.
If it is metabolic with normal anion gap it is either RIA or pyloric

stenosis.
4. Neonatal causes:
Respiratory acidosis Metabolic acidosis
RDS Sepsis
Pneumothorax Dehydrated
Blocked tube Renal
Pneumonia Metabolic
Cardiac
IVH
5. NB: Raised C02 with cyanosis is rarely cardiac.
109
QUESTIONS (2)
9.8 A three-day-old with RDS is improving when you are asked to review
the following arterial gas:
pH 7.29
pC02 70 mmHg
p02 80 mmHg
BE - 6 mmol/L
What would you like to do?
(i) increase the vent setting

(ii) saline bolus
(iii) repeat gas in one hour
(iv) bicarbonate bolus
AHMED HAMMOODI
(v) repeat gas
9.9 A six-hour-old 27-weeker is ventilated at a rate of 50 b.p.m. when you

are asked to review the following gas:
7.25
58 mmHg
76 mmHg
The baby is in 60% oxygen and has intermittent uncoordinated

respirations.
List three treatment options.
110
9.10 You are crash called to the emergency room where a four-year-old,
who has fallen through the ice on a frozen pond, is in ventricular
fibrillation.
m
3fl)
(a) Give the appropriate defibrillation settings for three shocks:
8 8 16
(i)
(ii)
(iii)
16 16
32 32
32
64
'::s°
n
'<
fl)
(iv) 64 64 128
3fl)
Q.
(v) 128 128 256 n'
;·
fl)
(b) List three measures to warm him. 0
c
Cl>
~
o·
9.11 You are crash called to A&E to review a three-year-old boy who has ::J
V\
been in a road traffic accident. You assess him using the paediatric ~
....
Glasgow Coma Scale and demonstrate the following: ?\.D
Eyes open to speech1 verbal - cries to pain, flexing to pain
AHMED HAMMOODI
What total does this give?
(i) 7
(ii) 8
(iii) 9
(iv) 10
(v) 11
9.12 The same boy now needs a fluid bolus. You want to give him normal
saline.
Which volume is appropriate?
(i) 260 ml
(ii) 450 ml
(iii) 900 ml
(iv) 520 ml
(v ) 1000 ml
111
9.13 You are crash called to a six-year-old boy who is being bagged in A&E
and needs intubating.
m What size of tube would you like?

3
ID
~
IQ
ID (i) 6~
:I
l"I (ii) 4
'<
(iii) 6
3
ID (iv) 5~
a.
n' (v) 5
;·
ID
0
c
Ill 9.14 A four-year-old boy is intubated in A&E with meningococcal sepsis.
.....
VI
You arrive with the transfer team. It is your hospital's policy to transfer
c;·
:J
VI children after nasal reintubation.
~
w What length would you expect the ET to be?
I
~
\J1
(i) 14
(ii) 17
AHMED HAMMOODI
(iii) 16
(iv) 19
(v) 20
9.15 A 10-year-old has been admitted to A&E with SVT on several

occasions. You have tried vagal manoeuvres and one dose of adenosine
without success.
What is your second dose of adenosine?
(i) 2600 µg
(ii) 2800 µg
(ill) 26 mg
(iv) 28 mg
(v) 3000 µg
112
ANSWERS (2)
9.8 (v)
Comment: Raised C02 would need a positive base excess to have a pH
of 7.29, so it must be wrong.
9.9 Increase the rate.
Increase the sedation.
Paralyse.
Comment: Try to decide the order you would use in practice.
9.10 (a) (iii)
2 x wt= 32 J
2 x wt = 32 J
AHMED HAMMOODI
4 xwt = 64J
(b) Remove wet clothing; warm blankets; warm i.v. fluids; peritoneal
warming (or bladder/stomach); cardiac bypass.
NB: Do not use a space blanket - it keeps warm but does not warm.
9.11 (iii)
Comment: Easy to write questions on but not easy to remember.
9.12 (iv)
Comment: All fluid boluses are 20 ml/kg.
9.13 (iv)
Comment: With questions that are formula based, do the calculation
and hopefully the answer will be there.
9.14 (i)
9.15 (ii)
113
AHMED HAMMOODI
Haematology
QUESTIONS
10.1 Further investigation of a three-year-old with suspected platelet

disease has the following results:
AHMED HAMMOODI
On film, platelets appear normal
Normal aggregation to ADP and collagen
But abnormal aggregation to ristocetin
(i) Bernard-Soulier disease

(ii) ITP
(iii) haemophilia
(iv) von Willebrand's disease
(v) DIC
11 5
10.2 A four-month-old is thought to be pale when seen by a GP.
A full blood count is taken:
Hb 4.6 g/dl
wee 11 .2 x 109 /L
Platelets 225 x 109/L
Reticulocytes 0.5%
(a) Suggest a possible diagnosis:

(i) iron deficiency
(ii) leukaemia
(iii) malaria
(iv) Blackfan-Diamond syndrome
(v) lead poisoning
(b) How would you confirm it?
AHMED HAMMOODI
10.3 A four-year-old being investigated for anaemia had the following
electrophoresis results:
HbA 85%
HbA 2 5%
HbF 3%
What is the reason for his anaemia?
(i) ~-thalassaemia trait

(ii) o.-thalassaernia trait
(iii) iron deficiency
(iv) normal
(v) ~-thala ssaemia major
116
10.4 A six-year-old boy suffering from recurrent infections with associated
eczema has his FBC checked:
:c
Ill
ID
Hb 12.1 g/dl 3
Ill
wee 10.6 x 109/L
S'
Platelets 45 x 109/L 0
ID
'<
D
c:
Cl)
(a) What is the likely diagnosis? VI

.....
5·
(i) histiocytosis ::l
VI
(ii) SCID 0
(iii) Wiskott-Aldrich syndrome
(iv) recovering ITP with eczema t
0
(v) poor sample
°'
(b) What are the immunoglobulin levels (lgA, IgE, lgM)?
10.5 An Asian child is suspected of having a-thalassaemia. FBC shows he
AHMED HAMMOODI
has a mean cell haemoglobin (MCH) of 30 pg.
Does he need further investigation?
10.6 You are asked to see a two-year-old girl who complains of back pain
and has a history of frequent illness. Her mother feels she has been
pale for about six months.
FBC:
Hb 5.7 g/dl
wee 7.3 x 109 /L
MeV 78 fl
Blood film normal
(a) What is your primary concern?

(i) Blackfan-Diamond syndrome
(ii) SCID
(iii) malignancy
(iv) infection
(v) iron deficiency anaemia
(b) List two further investigations you would m ake.

117
10.7 You are asked to see a child with a rash. Your clinical diagnosis is
urticarial but because of marked bruising you ask for an FBC:
Hb 9.3 g/dl
wee 10.4 x 109/L
MCH 22.4 pg
MCV 69.6 fl
Zinc protoporphyrin 63 µmol ZPP/mol haem
HbA2 3.9 (2.1 - 3.4%)
HbF 2.6 (<0.8%)
0
:..._i
.!.. (a) What is the diagnosis?
0
Co (i) a-thalassaemia
(ii) ~-thalassaemia
(iii) iron deficiency anaemia
(iv) ~-thalassaemia with iron deficiency
(v) a-thalassaemia with iron deficiency
AHMED HAMMOODI
(b) Can this present as neonatal jaundice?
10.8 You review a three-year-old with lower back pain who has poor
appetite and drinks 4-5 pints of milk a day. She is thriving.
The results of an FBC:
Hb 10.1 g/L
wee 4.4 x 109/L
MCV 68.5 fl

(i) iron deficiency
(ii) ~-thalassaemia
(iii) Blackfan- Diamond syndrome
(iv) sepsis
(v ) leukaemia
(b) What confirmatory blood test is there?
118
10.9 You are reviewing a four-year-old with bruises. There is a history of a
pyrexial illness with red cheeks:
Hb 12.6 g/dl
wee 2.5 x 109/L
[ Platelets 10 x 109/L
(a) What illness has she had?

(i) 1st disease of childhood
(ii) 6th disease of childhood
(iii) 2nd disease of childhood 0
(iv) 4th disease of childhood i.o
(v) 5th disease of childhood
(b) What is the causative agent?

(i) parvovirus B 19
(ii) adenovirus
(iii) Herpesvirus typ e VI
AHMED HAMMOODI
(iv) Herpesvirus type I
(v) RSV
119
10.10 You are asked to see a 10-year-old child in out-patients whose father is
Chinese. He has presented with non-specific abdominal pain:
Hb 11 .8 g/dl
MCV 70.6 fl
MCH 22.1 pg
HbA2 2.8 (normal 2.1 - 3.4%)
HbF 0.5 (<0.8%)
Zinc protoporphyrin 43 (normal 0-80} µmol ZPP/mol haem
Film microcytosis, hypochromia
(i) G6PD deficiency

(ii) P-thalassaemia
(iii) sickle cell
(iv) a-thalassaemia
(v) iron deficiency
AHMED HAMMOODI
(b) Is it causing her abdominal pain?
(c) What neonatal problems may it cause?
10.11 You are asked to see a jaundiced baby on day 1:
Bi lirubin 110 µmol/L

Baby's blood group O Rh-positive
Mother's blood group 0 Rh-negative
Mother tells you that she has had a splenectomy.
(a) Give two possible diagnoses.
(b) Give two differentiating tests.
120
10.12 You are reviewing a thriving two-year-old in clinic with a 2 cm spleen
and a family history of spherocytosis.
FBC results:
Hb 9.0 g/dl
wee 10.4 x 109/L
MCV 29 f l
Zinc protoporphyrin 87 (0-80) pmol ZPP/mol haem
Reticulocytes 10.2%
(a) Name one medication this child should be given:

(i) iron
w
(ii) folic acid
(iii) multi-vitamins
(iv) penicillin
(v) B12
AHMED HAMMOODI
(b) If this child needs a splenectomy give two management
requirements.
10.13 A two-year-old has been in for six days with a pyrexia, cough and a
fine macular rash which seems to appear with the evening rise in
temperature. Palpable spleen 2 cm:
Hb 8.1 g/dl
wee 17.4 x 109/L
MeV 70.6 fl
ESR 120 mm/h

(i) leukaemia
(ii) malaria
(iii) systemic juvenile arthritis
(iv) tuberculosis
(v) Kawasaki's syndrome
(b) What would be your initial treatment?
121
10.14 A 2~-year-old with Still's disease is not well controlled so is admitted
for a bone marrow biopsy.
:z:
Ill (a) Why has he had a bone marrow biopsy?
ID
..
3
Ill
0
0
(b) How would you monitor the Still's disease?
U2 10.15 You are asked to take over the care of a term neonate under double
'<
.0 lights for a high bilirubin. Its blood group is AB negative and the DCT
c is positive. The mother is also AB negative.
II>
~
()"
:l Which of the following blood groups can the father not be?
"'
_.
~
_.
.i::. (i) A negative
_.I
(ii) 0 negative
~
(iii) A positive
" (iv) AB positive
(v) B negative
AHMED HAMMOODI
10.16 You are reviewing a three-day-old baby on the postnatal wards. The
mother wants to know whether the baby has passive immunization
from her. For which of the following, if the mother has had, will the
child not have passive immunization?
(i) chickenpox
(ii) herpes
(iii) whooping cough
(iv) rubella
(v) HIV
10.17 A six-year-old boy with a family history of bruising comes to see you.
You suspect he has von Willebrand's disease and so order the
following tests.
Which two would most help to confirm the diagnosis?
(i) platelet count

(ii) bleeding time
(iii) PT
(iv) APPT
(v) factor VIII levels
(vi) factor IX levels
(vii) ristocetin-induced platelet aggregation
122
10.18 A four-day-old neonate goes off with what is believed to be sepsis.
One of the nurses is checking the baby's blood glucose and comments
that the heel is still bleeding 10 minutes later:
Bleeding time PT APTT TT Fibrinogen

(i) ~~ ~ ~ J,
(ii) i i i i J,
(iii) i ~ i ~ ~
(iv) ~ ~r ~ ~
(v) ~ i ~r i ~
(a) Which of the above would suggest the baby has DIC? !=>
(b) Which of the above would suggest haemophilia?

!
0
iv
0
10.19 You are asked to see a 10-day-old girl w hose cord fell off on day 6 but
the cord has been oozing ever since. You order the following tests:
AHMED HAMMOODI
Platelets - normal
PT-normal
APPT - normal
Bleeding time - normal
Which of the following may be deficient?
(i) plasminogen
(ii) factor VU
(iii) vitamin K
(iv) factor XIII
(v) factor IX
10.20 A nine-year-old boy presents with bruises. He is otherwise well. You

have excluded ITP and leukaemia. You suspect he has haemophilia.
Which of the following levels of factor VIII would be consistent with
moderate levels?
(i) 0- 1%
(ii) 1-..5%
(iii) 5-10%
(iv) 10-20'Yo
(v) 20-50%
123
10.21 You are looking after a newborn baby on the neonatal unit. He has
suspected pneumonia and you have ordered an FBC. What is the
normal range for his mean cell volume?
(i) 80- 90
(ii) 90- 100
(iii) 100-110
(iv) 110-120
(v) 120- 130
AHMED HAMMOODI
124
ANSWERS
'•
10.1 (a) (iv)

Comment: Normal-size platelets; if large then consider Bernard-Soulier
disease.
10.2 (a) (iv)
(b) Bone marrow biopsy.

Comment: Best fit to age; may also mention hypoplasia of the thumb.
10.3 (i) !==>

.....
Comment: The presence of HbF tells you it is j) and the presence of .....I
HbA tells you it is trait. !==>
00
10.4 (a) (iii)
(b) IgA i, IgE i, IgM t.

Comment: There is a group of syndromes with altered
AHMED HAMMOODI
immunoglobulin levels but there is no logic to them so they have to be
learnt.
10.5 No.
Comment: You only need to investigate if it is less than 27 pg.
10.6 (a) (iii)
(b) MRI scan of spine; bone marrow biopsy.

Comment: It is very unusual for a child to complain of back pain. It
may also be infection, but in view of the low haemoglobin the prime
concern is malignancy.
10.7 (a) (ii)
(b) No.
Comment: Increased HbAi + HbF j) chains are not present at birth so
do not cause neonatal problems.
10.8 (a) (i)
(b) Zinc protoporphyrin levels or ferritin levels.

Comment: Milk allows a baby to thrive but is a very poor source of
iron.
125
10.9 (a) (v) (also known as slapped cheek syndrome or erythema
infectiosum)
(b) (i)
10.10 (a) (iv)
(b) No.
(c) Neonatal hydrops; intrauterine death.

Comment: Low normal haemoglobin with a very low mean cell
haemoglobin is usually either thalassaemia or iron deficiency.
0
i.o
....I 10.11 (a) Rhesus incompatibility; spherocytosis .
!=>
°' (b) Direct Coombs test; blood film; red cell fragility test.
Comment: In (a) the order is probably not relevant as both are likely. In
(b) two tests are needed that differentiate between your diagnosis in (a).
AHMED HAMMOODI
10.12 (a) (ii) (fewer marks for iron)
(b) Pneumococcal/meningococcal/haemophilus B vaccination -

encapsulated organisms; prophylactic penicillin.
Comment: The reticulocyte count is much higher than the zinc
protoporphyrin level. In (b), do not put down two vaccinations.
10.13 (a) (iii)
(b) NSAIDs.
Comment: Evening rise of temperature is the clue here.
10.14 (a) To exclude leukaemia before starting oral steroids.
(b) ESR; platelets; clinically.

Comment: All children who are going on to steroids need a biopsy -
that includes those with idiopathic thrombocytopenia purpura (ITP).
10.15 (ii)
Comment: This is the sort of question that just needs to be written
down.
10.16 (iii)
Comment: This can be worked out, e.g. which illness would cause most
problems for a month-old baby?
126
10.17 (ii, vii)
Comment: Cross off the answers you know are wrong.
10.18 (a) (ii) :::c

Ill
ID
(b) (iv) ...30

Ill
Comment: Sorry- no easy way to do this. Just work your way through
0
each line. ID
'<
)>
::J
10.19 (iv)
~
...,
11>
10.20 (ii) "'
10.21 (iv)
Comment: It is worth knowing which variables change with age, as
then one can assume the rest don't.
AHMED HAMMOODI
127
AHMED HAMMOODI
Gastro-
enterology
QUESTIONS
11.1 You are reviewing a two-year-old with a family history of coeliac

disease, who is not thriving:
AHMED HAMMOODI
Total protein 50 g/L
lgA <0.2 g/L
Anti-endomysial antibodies not detected
Please comment.
11.2 A four-week-old is referred because of mild jaundice. She is breast-fed

and feeding well:
Bilirubin total 110 µmol/L

Indirect 20 µmol/L
What is the most likely diagnosis?
129
11.3 You are requested to do the following investigation on a three-year-
•! old who is chesty:
pH
0.0 ·- --· . -- -. ·,..----.---..----
9.0
~~l·m ~~l!l/IJI!
l
8.0
7.0
6.0
5.0 .
4.0
3.0
2.0
1.0 -
w
I
0.0
16:00 20:00
_____L______i,._ , __~_,____, _ __..____ , _ __ _.!__ ••~- '-- -'
00:00 04:00
-- - ' _, - ~~·-__J._·'--- '----'
08:00
_.
(a) What is the investigation?
(b) Have you found the reason for his chestiness?
AHMED HAMMOODI
11.4 The tracing below was taken from a child who has been having
frequent absences. These were thought to have been caused by reflux:
pH
o.o ..---~~....,...,..--.-~ - · - ~ ··--T··-·- . - .--··--· • ···-·1 ··-·· x · ~ -··· 1 - ?< , ---.--..-----...- -__,,..-.. ----!X:-- ~"X -, -~
~~
i
i'
2.0
\.0
Q,QI •._ . ~~X~'i"<~~-'Af

~ · -~·~--~~·~X
16:00
!· ,...,,
~c-·~"'~~~-~~~~~~
20:00 00:00 04:00 08:00
J 12:00
(a) Are there any indications of reflux?
(b) Is reflux the cause of these episodes?
130
11.5 The child below has cerebral palsy. He is to have a percutaneous
endoscopic gastrostomy (PEG):
pH
0.01~ - :..-. ,~,~x·· --.---, -----··-.. ----~.----.- r-.-- ··---.-·' -----,--·-··-.----~~·
f
9.0r
s.oL
7.0 .
6.0
s.0' ·
4.0.1
3.0
I
2.0~
'I
1.oU i
0.0~- ----- ~-- x__._,y'.,,_.____._,__ L__._~~-·- ·~--~~~-~~~~~~~,~~~~~
·.,...__.~~-~
.
1.11
20:00 00:00 04:00 08:00 12:00 16:00 I
~
(a) Is he having the right operation?
AHMED HAMMOODI
11.6 You are reviewing a six-month-old baby with constipation. There is
some improvement with lactulose and senna. Reviewing his notes he
was initially breast-fed and first opened his bowels on day 6.
What would you do next?
(i) continue
(ii) rule out coeliac disease
(iii) rule out Hirschsprung's disease
(iv) rule out hypothyroidism
(v) rule out CF.
11.7 A four-year-old with an acute abdomen has the following findings:

Abdomen: tender on the right, bowel sounds present.
FBC:
Hb 15 g/dl
wee 20 x 109/L (90% neutrophils)
Amylase 650 IU/l
Ultrasound free f luid - 2.5 cm mass behind the bladder
(b) Give two possible aetiologies.

131
(c) Give one complication.
11.8 A 14-year-old girl presents with anorexia and weight loss. She has
some painful lesions on her shins. The rest of the examination is
unremarkable. You suspect erythema nodosum.
"....
Cl
Ill
Which of the following causes would be top of your list?
a
Ill
....:::s (i) the pill
...0
Ill
(ii) mycoplasma
0 (iii) Crohn's disease
l,Q
'< (iv) sarcoid
.0 (v) strep throat
c
ID
.....
VI
a·
:l
VI 11.9 A 10-year-old girl with good diabetic control starts to fail to thrive.
You have checked her TFTs; they are normal.
Oo
I
--"
Which of the following would most likely give an explanation?
:.....
(i) HbAlC
(ii) LH/FSH
AHMED HAMMOODI
(iii) Anti-endomysial antibodies
(iv) GH
(v) CF screen
11.10 You have been reviewing an eight-year-old girl with abdominal pain
and intermittent diarrhoea. There is no history of weight loss and she
looks well. You have done a few baseline investigations which are all
normal. You believe she has irritable bowel syndrome.
What type of diarrhoea is this?
(i) secretory
(ii) osmotic
(iii) decreased surface area
(iv) increased motility
(v) mucosa invasion
11.11 You are called to see a six-hour-old baby because he choked and vomited
his first feed. He has lots of secretions. You suspect an oesophageal
atresia. X-ray with repogal tube confirms the diagnosis. There is no air in
the stomach. Which of the following could it be (pick two)?
(i) type A
(ii) type B
(iii) type C
132 (iv) type D
(v) type E
11.12 You see a six-week-old baby because the health visitor is worried. He
is fully breast-fed and beginning to smile. He has no diarrhoea but
possets a lot and has only put on 90 g in the last week. You suspect he
has significant reflux and start him on Gaviscon.
If you are successful, what would be an appropriate weight gain each

week?
(i) 120 g
(ii) 150 g
(iii) 180 g
(iv) 210 g
(v) 240 g
11.13 Matthew is admitted to the acute ward with a seven-day history of

bloody diarrhoea and vomiting. He is apyrexial but has generalized :...
N
I
tenderness. Initial results are: ~
Hb 13.2
AHMED HAMMOODI
wee 12.9
Na 135
K 3.5
He03 18
Stool culture negative
(a) VI/hat is the most likely diagnosis?

(i) salmonella
(ii) amoebic dysentery
(iii) coeliac disease
(iv) Crohn's disease
(v) ulcerative colitis
(b) VI/hat is the investigation to confirm?

(i) repeat stool cultures
(ii) small bowel meal
(iii) jejunal biopsy
(iv) barium enema
(v) colonoscopy and biopsy
(c) What is the treatment of choice?

(i) metronidazole
(ii) remove gluten
(iii) i.v. steroids
(iv) oral steroids
(v) supportive
133
ANSWERS
11.1 Anti-endomysial is IgA, so as the IgA levels are very low it is not a
useful test. The child needs a jejunal biopsy.
11.2 Biliary atresia.

Comment: Do not be fooled when you are given results that you are
not used to, for example indirect bilirubin.
11.3 (a) 24 h oesophageal pH.
(b) No.
Comment: Now you have seen a 24 h reading then the pH readings
:... will be easy.
I
~
00 11.4 (a) Minimal evidence, as only two episodes are below pH 4.0.
(b) No: the lines are episodes of absence and they are not related to
reflux.
AHMED HAMMOODI
11.5 (a) No.
(b) The 24 h pH recording has demonstrated numerous episodes of

reflux. It is not possible to perform an anti-reflux procedure such
as Nissan's with an endoscope. Reflux should normally be less
than 10°/c, of the total times.
11.6 (iii) Take a rectal biopsy to rule out Hirschsprung's.
11.7 (a) Pancreatitis.
(b) Mumps; cystic fibrosis; trauma.
(c) Pseudocyst.
Comment: This question is easy if you put next to each answer 'high' ,
'low' or 'normal'.
11.8 (iii)
Comment: Erythema nodosum with anorexia and weight loss. Make
sure answer fits with all three.
134
11.9 (iii)
Comment: Coeliac disease is associated with Down's syndrome.
11.10 (iv) Try to think of examples of the others.

Comment: Examples - osmotic, laxative abuse, coeliac disease,
decreased surface area, short gut.
11.11 (i, iii)
11.12 (iv)
11.13 (a) (v}
(b) (v)
(c) (iii)
Comment: Another good example of crossing out answers, e.g. culture .....
w
negative so unlikely to be salmonella.
AHMED HAMMOODI
135
AHMED HAMMOODI
Syndromes
12
QUESTIONS (1)
12.1 A three-week-old baby presents with vomiting and diarrhoea. An

observant SHO notices lens clouding.
AHMED HAMMOODI
(i) rubella
(ii) galactosaemia
(iii) tyrosinaemia
(iv) hypothyroidism
(v) renal tubular acidosis
(b) Name a confirmatory test.
12.2 A three-year-old child with learning difficulties is referred to you by

the ophthalmologist.

(i) Marfan's syndrome
(ii) galactosaemia
(iii) Tay-Sachs disease
(iv) homocystinuria
(v) cerebral palsy
(b) Name a confirmatory test on the urine.
137
12.3 A 10-year-old is referred to you for intermittent mild jaundice. His
urine and stools are normal.
Ill (a) What is the most likely diagnosis?

'<
::s (i) hepatitis B
a.
a (ii) Gilbert's syndrome
3
~
(iii) Dubin- Johnson syndrome
Ill
(iv) Rotor's syndrome
IV
w (v) hepatitis A
.!...
IV
Vl (b) What is the mode of inheritance?
(i) sporadic
(ii) X-linked dominant
(iv) autosomal dominant
(v) autosomal recessive
12.4 A seven-year-old girl is referred with tiredness and symmetrical

proximal muscle weakness. There is some tenderness.
AHMED HAMMOODI
(a) Give two other features you would look for.
(b) What is the mainstay of treatment?

(i) paracetamol
(ii) splinting
(iii) steroids
(iv) interferon
(v) ibuprofen
12.5 You are asked to see a three-year-old boy who has pubic hair and an
enlarged penis. His electrolytes, h owever, are normal.
What is the most likely diagnosis?
(i) congenital adrenal hyperplasia

(ii) congenital adrenal hypoplasia
(iii) central precocious puberty
(iv) adrenal tumom
(v) normal
138
ANSWERS (1)
12.1 (a) (ii)
(b) Galactose-1-phosphate uridyl transferase (Gal-I-PUT) blood test.

Comment: Give the full test names.
12.2 (a) (iv)
(b) Homocystine levels.

Comment: Other syndromes have eye changes, but the diagnosis needs
to be made on a urine sample.
12.3 (a) (ii)
(b) (v)
12.4 (a) Facial purple heliotrope rash; oedema in hands or feet;

subcutaneous nodules.
AHMED HAMMOODI
(b) (iii)
Comment: The child has dermatomyositis.
12.5 (i)
Comment: Use all the information in the question. Adrenal pubertal
growth does not affect the testes or ovaries as they are controlled by
LH/FSH.
139
Helpful hints
SYNDROMES
1. The syndromes that you remember are the ones that you have seen.
2. To facilitate this there are two options:
(a) Go to your local special schools even before the clinical part of
this examination.
(b) After answering any question on syndromes take notes, then look
in the syndrome book.
3. 2(a) is the best option as most syndromes that you will be asked about
rarely come in as patients.
4. These questions are quite common in the slide section and hint
AHMED HAMMOODI
no. 2 helps because features run true. It is not wasted time.
140
QUESTIONS (2)
12.6 A seven"year-old with acne is referred to you. You notice that she is Ill
'<
obese. :::J
a.
a
(a) What is the most likely diagnosis? 3
II)
(i) precocious puberty Ill
(ii) Addison's disease .0

c
(iii) Conn's syndrome ro
;,
(iv) Cushing's syndrome 0
:::i
(v) congenital adrenal hyperplasia VI
(b) Give two other clinical features.
12.7 A 13-year-old girl is referred to you through the school nurse because
she looks tired although she says she doesn't feel it.
(a) What is a possible diagnosis?

(i) chronic fatigue syndrome
AHMED HAMMOODI
(ii) drug abuse
(iii) myasthenia gravis
(iv) normal
(v) myotonia
(b) Give two treatment options.
141
12.8 You are referred an eight-year-old boy who has hypermobile joints.
There is a history of numerous abscesses.
Ill (a) What is the most likely diagnosis?

'<
..
:::J
CL
0
(i) Job's syndrome
(ii) Ehlers- Danlos syndrome
3 {iii) Marfan's syndrome
"
Ill
(iv) Homocystinuria
D
c (v) SCID
ro
VI
r+
5·
:J (b) Name one possible treatment.
VI
(i) regular immunoglobulins
N
00 (ii) cimetidine
.!.. (iii) routine antibiotics
!'J
0
(iv) antiseptic soap
(v) leave alone
12.9 You are reviewing a child with obesity in the follow-up clinic.
Reading his notes you see that a plastic surgeon has seen him for
polydactyly. He has also been diagnosed as having visual problems.
AHMED HAMMOODI
(a) What is the underlying diagnosis?
(b) Explain his visual problems.

(i) retinitis pigmentosa
(ii) cherry red spot
(iii) corneal clouding
(iv) cataract
(v) papilloedema
12.10 You are asked to see an 18-month-old who was developing normally
until seven months of age. Autism has been suggested but the child's
condition is getting worse. There are hyperventilation episodes and
head growth has slowed.

(i) Lesch- Nyhan syndrome
(ii) rubella
(iii) Asperger's syndrome
(iv) familial microcephaly
(v) Rett's syndrome
(b) What sex is the child?
142
12.11 A six-week-old baby is coming for routine foUow-up. She was growth
retarded and on the neonatal screen failed her hearing test. She
continues to fail to thrive and her mother is worried because she does
not appear to look at her. You suspect she has congenital rubella. U'I
'<
::s
a.
Which of the following eye changes would you not expect? a
3
ID
Ill
(i) chorioretinitis
0
(ii) retinitis pigmentosa c
ID
VI
(iii) cataracts r+
5·
(iv) glaucoma :J
VI
(v) corneal clouding
12.12 You are reviewing a six-hour-old baby with growth retardation and
petechiae. Examination of the eyes reveals glaucoma.
Which of the following is most likely?
(i) toxoplasmosis
AHMED HAMMOODI
(ii) rubella
(iii) CMV
(iv) herpes
(v) enterovirus
12.13 You are reviewing a four-year-old boy for assessment. He has

significant pubic hair growth and penile enlargement although his
testes are small. On plotting him on the centile charts he is on the 97th
centile. You diagnose pseudo-precocious puberty.
Which of the following tests will be of least use?
(i) urinary steroids

(ii) bone age
(iii) abdominal ultrasound
(iv) serum 17-hydroxyprogesterone levels
(v) MRI head
143
12.14 You are called to the high-dependency unit, where a six-day-old has
just arrived. She is semi-conscious and has fitted. There is also a
history of some vomiting. The blood glucose is low and you suspect
the b aby has maple syrup urine disease.
Which of the following tests is used to confirm the diagnosis?
(i) urinary and blood amino acids

0
c (ii) urinary organic acids
ID
"'0~. (iii) skin fibroblasts
::::> (iv) urinary amino acids and organic acids
"'..... (v) urinary ketoacidosis
!'-'
!!'-'
12.15 A two-week-old is continuing to cause concern on the neonatal unit.
V1
He is drowsy and difficult to feed. He is also significantly hypotonic.
The nurses feel he is fitting. Having excluded many metabolic
problems your consultant speaks to the regional centre. They suggest
you rule out non-ketotic hyperglycinaemia. What paired sample do
you need to send?
AHMED HAMMOODI
(i) blood and urine
(ii) CSF and urine
(iii) CSF and blood
(iv) blood and stools
(v) stools and urine
144
12.16 Bethany was admitted to SCBU because of prolonged resuscitation.
She had been intubated for 15 minutes. She settled very quickly on
SCBU and, although she looked slightly dysmorphic, her mother said
she looked like her other children. She was due to be seen in out-
patients at 6 / 52 and because of the neonatal period had two hearing
tests, which she had failed. At three weeks she was admitted with a
cold and she had lost 300 g. On examination she had an
antimongoloid slant and high palate and small lower jaw. There was
0
no defect with the eyes and the ears were slightly small and primitive. c
11>
The geneticist came to look and said she looks classical. "'
~.
0
::i
(a) Which syndrome is this? !'J
(i) Alagille's .....
O'I
(ii) Down's
(iii) Pierre Robin's
(iv) Williams'
(v) Stickler's
(b) What would you expect her IQ to be?

(i) normal
AHMED HAMMOODI
(ii) low normal
(iii) mild mental retardation
(iv) moderate mental retardation
(v) severe mental retardation
145
12.17 Mark is nine and referred by his GP for polyuria and polydipsia. He
has also been losing weight for the last five months. He drinks mostly
in the evening but also at night. His blood results are as follows:
Ill
'<
:::s
a.
a3 Hb 12.9
ID wee 7.0
Ill
Platelets 366
0 Glu 6.3
c
(I)
Na 134
.....
"'
o· K 4.6
:J u 3.2
ereatinine 56

(i) psychogenic polydipsia
(ii) diabetes insipidus
(iii) diabetes mellitus
(iv) anorexia
AHMED HAMMOODI
(v) UTI
(b) What investigation would you do?

(i) morning urine
(ii) water deprivation test
(iii) trial of DDAVP
(iv) urine for MC & S
(v) none
146
ANSWERS (2)
12.6 (a) (iv)
(b) Stretch marks; hirsutism.

Comment: Increased BP would not be a clinical feature.
)>
12.7 (a) (iii) :::>
~
(b)Neostigmine; thymectomy.
..,
11>
"'.....
Comment: Thymectomy fits with female sex. N
12.8 (a) (i)

!!'J
.....
V1
(b) (ii)
Comment: It is also known as hyper-IgE syndrome.
12.9 (a) Laurence-Moon- Biedl.
AHMED HAMMOODI
(b) (i)
12.10 (a) (v)
(b) Female.
Comment: When asked what sex a child is, do not assume the child is
male!
12.11 (ii)
Comment: Always read questions carefully as the word ' not' is the
crucial one.
12.12 (ii)
Comment: If you read any of the answers and know their typical
finding then cross them out.
12.13 (v)
Comment: Pseudo-precocious puberty is non-central in origin.
12.14 (iii)
Comment: Clue - the word 'confirm'.
12.15 (iii)
147
12.16 (a) (iv)
(b) (i)
Comment: Sorne syndromes are obvious at birth but most are not and
then some are retrospectively obvious, e.g. Prader-Willi and neonatal
hypotonia.
)>
12.17 (a) (i)
::J
VI
~ (b) (i)
ID
....
VI
Comment: Normal electrolytes are unlikely to have pathology.
AHMED HAMMOODI
148
Neonates
QUESTIONS
13.1 A 32-week-old neonate has the following vent settings: 40 b.p.m.,

0.3 s, 18/4, 50%, when you are doing the following gas:
AHMED HAMMOODI
7.24
6.0
5.7
20
- 3.0
What alteration would you like to do?
(i) increase rate

(ii) increase inspiratory time
(iii) increase pressure
(iv) saline bolus
(v) repeat in 1 hour
149
13.2 A 26-week-old neonate on the ventilator is on 60 b .p.m., 0.34 s, 18/ 4,
when you do the following gas:
pH 7.23
pC02 4.1
p02 7.9
,() HC03 17
c BE -8
11>
"'r+
6'
::J
"' What will you do?
(i) treat the base deficit

(ii) repeat the gas
(iii) increase the vent and treat the base deficit
(iv) increase the vent
(v) decrease the vent and treat the base deficit
13.3 A term neonate is born weighing 1.8 kg. On examination there are no
AHMED HAMMOODI
murmurs and ears are not low set. There is some overlapping of
fingers and he is hungry.
What test is top of the list?
(i) gas
(ii) TORCH screen
(iii) Screen for Down's
(iv) eye examination
(v) screen for Edwards' syndrome
13.4 A mother is asking you about the Guthrie test.
Which of the following will not be covered?
(i) thyroid dyshormonogenesis

(ii) absent thyroid
(iii) central hypothyroidism
(iv) cystic fibrosis
(v) phenylketonuria
150
13.S You are checking the results of a neonate.
Which of the following has a different normal range from adults?
(i) sodium
(ii) potassium
(iii) phosphate
(iv) urea
(v) glucose
13.6 You are discussing vitamins with the dietitian and you are
particularly interested in antioxidants.
w
00
Which of the following is an antioxidant?
(i) vitamin K
(ii) vitamin D
(iii) vitamin B6
(iv) vitamin B12
AHMED HAMMOODI
(v) vitamin E
13.7 You are doing a metabolic screen on the neonatal unit.
Which of the following tests has to be sent on ice?
(i) lactate
(ii) venous gas
(iii) ammonia
(iv) Gal-I-PUT
(v) amino acid screen
13.8 You are speaking to parents-to-be of a potential 23-weeker who want

to know the prognosis. The survival rate is:
(i) 1%
(ii) 5%
(iii) 10%
(iv) 25%
(v) 45%
151
13.9 You are reviewing the vitamin K policy for the newborn.
Which of the following is right when comparing the different types?

z
ID
0 (i) v itamin K i.m. is best
:::s
....
Ill
ID
(ii) vitamin Koral is best
Ill (iii) vitamin K i.v. is best
0 (iv) v itamin K i.m. or i.v. is best
c
11>
.....
V'I (v) all are equally as good
5·
::l
V'I
_.
w 13.10 You are asked to give a 2 kg baby sodium supplements for low
'.E sodium. The registrar asks for 4 mmol/kg/ day.
!"'
N
Which is the right dose of 30'Yo?
(i) 0.4 ml q.d.s.

(ii) 0.2 ml q.d.s.
(iii) 0.5 ml q.d.s.
(iv) 0.2 ml b.d.
AHMED HAMMOODI
(v) 0.5 ml b.d.
13.11 You are reviewing a baby on day 3 with what you believe is
physiological jaundice.
Which of the following is relevant to pathological jaundice only?
(i) increase destruction

(ii) decreased life span
(iii) altered binding
(iv) decreased albumin
(v) increased enterohepatic shunting
13.12 The energy requirements of a premature baby are being looked at as a

part of the neonatal ward round. The infant needs approximately 120
kcal/kg/ day.
H ow many calories does a premature infant expend at rest?
(i) 5
(ii) 10
(iii} 20
(iv) 50
(v) 100
152
13.13 You are discussing passive immunization by IgG transfer from the
mother to a woman in early labour.
At what gestation does efficient transport begin? z

ID
0
(i)
(ii)
24 weeks
28 weeks
=
....
Ill
ID
Ill
(iii) 30weeks
.0
(iv) 32 weeks c
rt>
(v) 34 weeks ~
c;·
:l
VI
!--"
13.14 You are reviewing the serology of a mother who is known to be
w
hepatitis B positive. .....I
w
Which of the following shows the highest infection risk?
(i) HBs Ag
(ii) HBe Ag
(iii) Anti-HBe
AHMED HAMMOODI
(iv) Anti-HBs
(v) H Bs Ag and HBe Ag
153
ANSWERS
AHMED HAMMOODI
Miscellaneous
QUESTIONS
14.1 A 12-year-old boy presents to you with a painful left leg. There is
some restriction of movement.
AHMED HAMMOODI
(i) irritable hip
(ii) pathological fracture
(iii) septic arthritis
(iv) Perthes' disease
(v) Slipped femoral epiphysis
(b) What is the investigation of choice?
14.2 A three-year-old presents w ith a limp and pain that wakes her at
night. The hip X-ray is normal and so are the FBC and ESR.
What is the next investigation?
155
14.3
100% of
adult level
lgG
.0
c
ro
"'r+
6'
:::J
Birth 2 3 4
"'
Time (years}
Explain the Ig levels in the graph.
14.4 A child can lift his leg against gravity but not if there is added resistance.
AHMED HAMMOODI
What muscle strength is this?
(i) l /5
(ii) 2/5
(iii) 3/5
{iv) 4/5
(v) 5/5
14.5 A GP has asked you to see a toddler with a painless swelling above
his right eye.
(a) Suggest a diagnosis.
(i) sebaceous cyst

(ii) dermoid
(iii) infected sweat gland
(iv) entropia
(v) lipoma
(b) Name one other site.
156
14.6 A baby is born with a swelling of the left side of the scrotum. Over the
next 24 hit goes blue/black.

(i) congenital torsion
(ii) hydrocele
Ill
(iii) obstructed hernia ::s
ft)
(iv) non-obstructed hernia 0
c
(v) haemangioma Ill
.0
c
11)
(b) What is the prognosis? VI
.....
5·
::i
VI
(c) Does the child need an operation?
14.7 Two children have their visual fields tested.
AHMED HAMMOODI
A B
(a) Where is the lesion in child A?

{i) optic chiasm
(ii) left optic tract
(iii) right optic tract
(iv) left optic nerve
(v) right optic nerve
(b) Where is the lesion in child B?

(i) optic chiasrn
{ii) right temporal lobe radiation
(iii) left temporal lobe radiation
(iv) right parietal lobe radiation
(v) left parietal lobe radiation
157
14.8 You are asked to review the following cell count from a lumbar
puncture undertaken on a 12-year-old boy:
~
Ill
n RBe 214 000 x 106 /L
!. WBe 396 x 106/L
;-
::J
RI
0
c
Ill
0 Is it significant?
c
ro
"'...+
a· 14.9 A nine-year-old girl initially presents with some facial weakness. The
::i
"' following lumbar puncture result is available:
~
Co
.!...
~
0
wee < 5 x 106/L
Protei n 2.2 g/L
Glucose 3.6 mmol/L
AHMED HAMMOODI
(i) viral meningitis
(ii) Bell's palsy
(iii) Guillain-Barre syndrome
(iv) multiple sclerosis
(v) partially treated meningitis
(b) What monitoring is most important?
14.10 A 15-month-old is admitted; she is refusing to walk and has

prominence of the spine in the thoraco-lumbar area. She is apyrexial
and not distressed.
FBC:
Hb 11.49/dl
wee 11.5 x 109/L
Platelets 4 15 x 109/L
eRP 12 mg/L
Plain X-ray of spine erosion L1- L2
What are the main differential diagnoses?

158
14.11 You are taking over the care of a term infant with meconium
aspiration. It is 12 hours old and in 90% oxygen. The vent is set at 50
b.p.m. with pressures of 30/4 mean 14.
An arterial gas has an 0 2 of 6 kPa. What is the oxygen index?
(i) 14
(ii) 28
(iii) 32
(iv) 20
(v) 49
14.12 You are writing new guidelines for the management of

hypoglycaemia on the postnatal wards.
Which of the following is the cut-off for hypoglycaemia? w
(i) 2
(ii) 2.5
AHMED HAMMOODI
(iii) 2.7
(iv) 3.0
(v) 1.0
14.13 You are doing a septic screen on a term neonate for PROM. This
includes an LP.
Up to what number of white cells is acceptable?
(i) <10
(ii) <20
(iii) <30
(iv) <40
(v) <50
159
14.14 You are discussing the prognosis with a mother and father on the
postnatal wards. The baby had been diagnosed as having Down's
syndrome two days before.
3:
iii' (a) Which of the following complications is most frequent?
l'I
!. (i) gastrointestinal abnormalities
iii
~
II)
(ii) congenital heart disease
0 (iii) h ypothyroidism
c
Ill (iv) leukaemia
0 (v) hearing loss
c
11)
.....
VI
6' (b) At what age are they most likely to get leukaemia?
:i
VI
(i) less than 6 months
f:.
.... (ii) 2-3 years
:tf:. (iii) 5--10 years
(iv) teenagers
Vl (v) as adults
14.15 You are seeing a couple who have a family history of haemophilia.
AHMED HAMMOODI
They have come for antenatal counselling.
(a) Which of the following family trees fits with the condition?
160
(ii)
Mum to be Mum to be
(iii)
AHMED HAMMOODI
Mum to be
(b) What is the chance of her male offspring having the condition?
(i) none
(ii) 1/2
(iii) 1/4
(iv) 1/8
(v) 1/16
161
14.16 A three-year-old presents to you having had a cold a couple of weeks
before. He was noted at school to have bruises on knees and arms.
The teacher was worried that there are some petechiae but there is no
3: hepatosplenomegaly.
iii'
& (a) Which of the following is most likely?
iii'
:s (i) non-accidental injury
~
0
cIll {ii) idiopathic thrombocytopenia purpura
(iii) leukaemia
(iv) Henoch-Schonlein purpura
(v) childhood injuries
(b ) Which is the most appropriate treatment?

(i) immunoglobulins
(ii) case conference
(iii) s teroids
(iv) no treatment
(v) antibiotics
AHMED HAMMOODI
14.17 A 10-year-old girl comes in with diarrhoea and abdominal pain. Initial
examination shows she is pyrexial with a small node in her neck and a
soft abdomen. Her BP is 128/70. Initial tests show her to have large
blood and protein in her urine. Her electrolytes are Na 135, K 5.3, bil
16, urea 13.6, creatinine 132.
You suspect she has glomerulonephritis. What would you expect her
C3 and C4 results to be?
(i) C3 normal c4. normal

(ii) C3 low C4 low
(iii) C3 low C4 normal
(iv} C3 normal C4 low
(v} C3 high C4 high
14.18 You were asked to review a four-hour-old baby because of a swelling

on the scalp. Which one of the following would suggest a
cephalhaematoma as opposed to caput succedaneum?
(i) poorly defined outline
(ii) caused by pressure
(iii) still present at two weeks
(iv) noticed at birth
(v) swelling crosses the suture line
162
14.19 A three-hour-old baby who was born below the 3rd centile is being
closely monitored for symptoms of hypoglycaemia.
Which of the following is not a symptom?
(i) cyanosis
(ii) plethora
(iii) respiratory distress
(iv) temperature instability
(v) pallor .0
c
11)
.....
"'
c»
:J
14.20 It is 10.00 p.m. and you are rung by the GP out of hours because he "'
has a baby with a pyrexia. He says the temperature is 103.1°F.
What is this in centigrade?
(i) 38.o·c
(ii) 40.o·c
(iii) 38.5°C
AHMED HAMMOODI
(iv) 39.5°C
(v) 39.o·c
14.21 A six-year-old boy is admitted with a short history of frequency. The

SHO notices there is some swelling around the eyes and suspects
nephrotic syndrome.
Which of the following is not consistent wi th the diagnosis?
(i) proteinuria
(ii) hypoalbuminaemia
(iii) hypertension
(iv) generalized oedema
(v) hyperlipidaemia
14.22 A four-year-old boy comes in with a short illness and having not
passed urine for 12 hours. On admission his urea is 9 and his
creatinine is 150. Urine output continues to be very poor.
Which of the following is not a pre-renal cause?
(i) burns
(ii) nephrotic syndrome
(iii) acute gastroenteritis
(iv) haemolytic- uraemic syndrome
163
(v) septicaemic shock
14.23 A six-month-old baby is being assessed for development. Tone seems
all right and he is alert.
Which of the following reflexes would be normal at this age?
(i) Moro reflex

iii
:I (ii) asymmetric tonic neck reflex
ID
0
c (iii) hand grasp
Ill
(iv) parachute
0 (v) plantar grasp
c
ro
111
~-
0
:I
111
14.24 A seven-year-old is coming up for his three-monthly review. He was
~
rv diagnosed as having cystic fibrosis four years ago. He also, on
w questioning, has some exercise intolerance which has been helped by
.!...
:;:. the GP prescribing a beta agonist.
N
l.n
Which one of the following lung function tests best fits?
AHMED HAMMOODI
FVC FEV 1 PEF
Predicted 2.0 1.9 280

(i) 2.2 1.7 210
(ii) 1.6 1.1 200
(iii) 1.5 1.4 170
(iv) 1.7 1.8 250
(v) 1.9 1.0 160
14.25 You are referred a nine-year-old girl with short stature.

Cardiovascular and respiratory systems are normal. Assessment of her
pubertal development shows she has enlargement of the breast and
areola areas but there is no separation in their contours. There is a
sparse growth of slightly downy hair along the labia.
Her pubertal staging is:
Breast Pubic hair

(i) II Ill
(ii) II II
(iii) Ill Ill
(iv) Ill II
(v) Ill JV
164
14.26 You are asked to see a six-year-old boy who is causing disruption at
school and home. During the consultatjon he doesn't sit still. When
asked, his mother says he is sleeping no more than four hours a light.
s:
iii'
What should be his typical sleep needs?
~
iii
(i) 12 hours :::J
ID
(ii) 7hours 0
cIll
(iii) 11 hours
(iv) 9 hours
(v) 8 hours
14.27 You are reviewing the neonatal unit's yearly figures and one of the
many calculations you have been asked to do is the neonatal mortality
rate.
Which of the following is the correct calculation?
(i) deaths in 1st week of total births
AHMED HAMMOODI
(ii) deaths in 1st month of total births
(iii) deaths in 1st week of live births
(iv) deaths in 1st month of live births
(v) deaths in 1st month of total births (excluding lethal
malformation)
14.28 You are reviewing a baby on the neonatal unit who is cyanotic with a
heart murmur. An urgent echo shows that he has Fallot's tetralogy.
The mother and father are both solicitors and you are explaining the
cause of Fallot's. They understand the heart problem and wonder
when it happened. You explain that it occurred during the embryonic
stage of development.
This is up to what stage in pregnancy?
(i) 7weeks
(ii) 8 weeks
(iii) 9weeks
(iv) lOweeks
(v) 11 weeks
165
ANSWERS
s:
iii'
14.1 (a) (v)
!. (b) Lateral hip X-ray.

iii Comment: Fit the diagnosis with the patient's age. He would need to
:I
IO
0 be younger for Perthes' (four to eight years of age).
cIll
14.2 X-ray the rest of the leg.
Comment: P athology may have been missed; for example, Ewing's
sarcoma.
14.3 The first rise is transplacental IgG, which dips before the baby starts
producing its own.
14.4 (iii)
0 - no movement
1 - slight movement
AHMED HAMMOODI
2 - movement, but not against gravity
3 - movement against gravity
4 - near normal
5-normal
14.5 (a) (ii)
(b) Many places, commonly anterior to the ear or the middle of the
neck.
14.6 (a) (i)
(b) The swelling will settle, leaving a palpable remnant only.
(c) No.
Comment: Congenital torsion is usually on the left and, unlike torsion
in the older age group, the other testis does not need fixing.
166
14.7 (a) (ii)
(b) (iv)
3:
iii'
f"I
L R ~
Di"
:I
ID
Vision 0
c
Ill
L R
•
)>
Optic nerve
0 :I
"'~
..,
Ill
"'
.....
Optic chiasm
() () f'>
".....
I
f'>
Left optic tract

() () 0
J - -- - -- -Tempora l lobe radiation ~ ~
AHMED HAMMOODI
~--+-----Parietal lobe radiation ~ ~
Comment: Whenever answering a question on visual pathways, draw

the pathway.
14.8 No.
Comment: One WBC for 500 RBC = 214 000/500 = 428.
14.9 (a) (iii)
(b) Respiratory function using a spirometer.

Comment: Question (b) removes any uncertainty regarding question
(a).
14.10 Discitis; tumour.

Comment: In view of non-raised CRP it is difficult to put the answers
in order.
167
14.11 (ii) (14 x 90)/(6 x 7.5)
Comment: Just make sure whether the 0 2 is kPa or mmHg.
3: 14.12 (iii)
iii'
;_ Comment: 2.7 is the current recommendation.
DI
:I 14.13 (v) Some people will say up to a 100 but I believe 50 is generous
ID
0 enough.
c
Ill
5' 14.14 (a) (v)

"'~
II>
~ (b) (ii) VVhen do you believe you should mention this to parents?
~
I_. 14.15 <a> (ii)
~
t:: (b) (iv)
Comment: Go through one generation at a time.
14.16 (a) (ii)
AHMED HAMMOODI
(b) (iv)
Comment: It could almost be any of them but ITP can follow a cold, so
that is the right answer.
14.17 (ii)
14.18 (iii )
Comment: It may calcify and so last several weeks.
14.19 (ii)
Comment: This is cau se, whereas the rest are effect.
14.20 (iv)
Comment: C ~ F = temperature x 9/5 + 32.
14.21 (iii) Consistent with nephritic syndrome.

Comment: Renal cause.
14.22 (iv)
14.23 (ii)
Comment: It is worth preparing a table of development and reflexes as
this is also very useful for Part II.
168
14.24 (ii) = mixed picture
14.25 (iv)
14.26 (iii)
14.27 (ii)
Comment: It is useful to know the different definitions.
14.28 (iii)
AHMED HAMMOODI
169
AHMED HAMMOODI
Exam 1
QUESTIONS
15.1 A cardiologist is reviewing a two-year-old with a systolic murmur. He

is noted to have some soft dysmorphic features:
AHMED HAMMOODI
ECG - normal
Echo - mild supravalvular aortic stenosis

(i) Prader-Willi syndrome
(ii) Angelman's syndrome
(iii) cri du chat
(iv) Williams' syndrome
(v) Alagille's syndrome
(b) Give one other cardiac lesion.

(i) coarctation
(ii) peripheral pulmonary stenosis
(iii) pulmonary atresia
(iv) tetraJogy of Fallot
(v) transposition
(c) What blood test may be abnormal in the neonatal period?

(i) hypercalcaemia
(ii) hypocakaemia
(iii) hyperkalaemia
(iv) hypokalaemia
(v) hypoglycaemia
171
(d) What is the confirmatory test?
(i) chromosome analysis
(ii) FISH - chromosome 7
(iii) liver biopsy
(iv) FISH - chromosome 15
... (v) FISH- chromosome 5
AHMED HAMMOODI
172
15.2 A 15-year-old is admitted with meningitis. While in hospital he has
audiometry tests.
...
.0
c
11)
"'
r+
5·
:i
"'
U1
N
I
~
60
' r
400 800 1600 2000 5000
Hertz (Hz)
AHMED HAMMOODI
(a) Does he need an operation?
15.3 A five-year-old with known renal tubular acidosis has the following
test result: Bicarbonate loading - urine more alkaline
Which type of RTA does he have?
15.4 A boy presents to you in out-patients with a one-week history of a

cough; he is also pyrexial. H e has a history of frequent skin abscesses
and intermittent diarrhoea.
(a) What would you expect his immunoglobulins to be (lgA, IgM,

IgG)?
(b) What is the inheritance?

(i) X-linked recessive
(ii) X-linked dominant
(iii) autosom al dominant
(iv) autosomal recessive
(v) mitochondrial
(c) Name one confirmatory test.

173
(d) What treatment may be required ?
15.5 A newly diagnosed diabetic has high pre-breakfast blood sugars, but
is also noted to be sweaty in the night.
... (b) What is the treatment plan?

0
~ 15.6 A baby on the neonatal unit with prolonged jaundice is found to have
§"· a TSH of 150 mU /L.
::J
"'
Name two associated syndromes.
15.7 This is the family tree of a girl illlder your care. Her parents both have
the same condition.
AHMED HAMMOODI
Died
6 months old
(a) What is the condition?
(b) What caused her brother's death?
174
15.8 A six-year-old presents to the deparhnent with a pyrexia and neck
stiffness.
LP result: m
)(
DI
3
...
RBC 21 x 106/L
WBC 264 x 106/L
V1
Gram-positive diplococcus t
V1
i.o
(a) What is the likely organism?
(i) meningococcus
(ii) listeria
{iii) haemophilus
(iv) pneumococcus
(v) E. coli
AHMED HAMMOODI
(b) Suggest an antibiotic.
(c) What would you expect the glucose to be?
15.9 A two-year-old girl is admitted with a two-month history of polyuria

and polydipsia. She also vomits intermittently and has gained w eight:
On admission g lycosuria
Blood sugar 11.2 mmol/L
Blood gas normal
Overnight BMs 4-7 mmol/L
Next morning blood sugar 4.6 mmol/L

(i) diabe tes mellitus
(ii) cranial diabetes insipidus
(iii) nephrogenic diabetes insipidus
(iv ) psychogenic polydipsia
(v) normal
(b) What is the management?
175
15.10 A 6Yi-year-old is referred to you because of her short stature. The
following results are available:
m
~
3 FBC Normal
U&Es Normal
.0 GH 110 mU/L
c TSH Normal
II>
,,.
VI
r+
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(iii) X-linked dominant
(iv) X-linked recessive
(v) mitochondrial
AHMED HAMMOODI
176
ANSWERS
15.1 (a) (iv) m

)(
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(b) (ii)
3
-A
)>
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(c) (i)
"'~
11>
.....
(d) (iv) "'
Comment: I believe that all new information is collected on a card ...
~
system. There are lots of conditions linked to cardiac conditions. If ...

vi
I
you record them all together then if you do not know the right answer
you will know which are wrong. °'
15.2 (a) No (not with the information given).
(b) The tests show mild right conductive hearing loss. The worry in
meningitis is sensorineuronal loss.
AHMED HAMMOODI
15.3 Proximal renal tubular acidosis.
Comment: Acid or base loading will not change the pH in distal renal
tubular acidosis.
15.4 (a) All raised.
(b) (i)
(c) Nitroblue tetrazolium dye reduction test.
(d) Antibiotics, white cell transfusion, bone marrow transplant.

Comment: H e has chronic granulomatous disease.
15.5 (a) Somogyi effect.
(b) Decrease evening insulin.

Comment: Too much insulin causes nocturnal hypoglycaemia with
compensatory growth hormone and cortisol surges. As the influence
of exogenous insulin diminishes, early-morning hyperglycaemia
occurs.
15.6 Down's syndrome; Pendred 's syndrome.
177
15.7 (a) Achondroplasia.
(b) Constrictive thoracic dystrophy.

Comment: Caused by the double dominant.
~ 15.8 (a) (iv)

)>
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"'
~ (b) Ceftriaxone, cefotaxime etc., or penicillin.
ro
.....
"' (c) Low / less than 40% of the blood glucose.
!-r1
-..J
I
Comment: Remember the relationship between CSF and blood glucose.
~
!-r1
o 15.9 (a) (iv)
(b) Gradual decrease in fluids.
Comment: Does not fit with d.iabetes as blood gas is normal and settles
with no treatment. High glucose can be caused by glucose drinks.
15.10 (a) Laron dwarfism.
AHMED HAMMOODI
(b) (i)
Comment: End-organ growth hormone insensitivity.
178
Exam 2
QUESTIONS
16.1 Ibis is the spirometer reading of an eight-year-old girl.
AHMED HAMMOODI
FVC 1.2 litres
2 2 FEF(25-75%) 40%
Q)
E
::::!
c;1
>
O+-~~~..--~..-~.---,r--~
0 2 4 6 8 10
Time (s)
(a) What condition does she have?

(i) astluna
(ii) cystic fibrosis
(iii) pneumonia
(iv) fibrosing alveolitis
(v) pneumothorax
(b) What would you expect her FEV1 to be?

(i) normal
(ii) slightly increased
(iii) slightly decreased
(iv) markedly decreased
(v) markedly increased
179
16.2 How old are these children?
(i) 1 year
(ii) 18 months
m
)( (iii) 2 years
Ill (iv) 2Yz years
3
N (v) 3 years
0 (vi) 3Yz years
c
Ill (vii) 4 years
~
6' (viii) 4Yz years
::i
(ix) 5 years
"'
en (x) Sliz years
t
en
(xi) 6 years
w Give their age from the above list by their ability to do the following:
(a) Make a tower of five bricks.
(b) Copy a flight of stairs out of building blocks.
(c) Draw
AHMED HAMMOODI
0
D
D,
16.3 A four-year-old boy with a known hearing loss has the following test
result:
Right Rinne negative

Left Rinne positive
Weber right
(a) What hearing loss does he have?

(i) bilateral conductive hearing loss
(ii) right conductive hearing loss
(iii) left conductive hearing loss
(iv) right sensorineural loss
(v) left sensorineural loss
(b) What is his bone conduction on the affected side?
180
16.4 Two unrelated families have had the same spontaneous mutation:
Family 1 Family 2 m
)(
Ill
3
N
.0
c
11>
;,
0
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Ill
(a) What is the condition?

(i) autosomal dominant
(ii) autosomal recessive
AHMED HAMMOODI
(v) mitochondrial
16.5 A 15-year-old girl with well-controlled diabetes starts drinking

excessively and passing a lot of urine.
What is the underlying diagnosis?

(i) cranial diabetes insipid us
(ii) not taking her insulin
(iii) DIDMOAD
(iv) UTI
(v) nephrogenic diabetes insipidus
16.6 A 14-year-old child is causing concern because her standing height is

tailing off the centiles. She is developmentally normal and well. She is
also entering puberty.
(a) What is the likely underlying diagnosis?

(i) achondroplasia
(ii) Turner's syndrome
(iii) hypochondroplasia
(iv) rickets
(v) missed congenital adrenal hypoplasia
(b) How may this be confirmed clinically?

181
16.7 A school child is noticed to be jaundiced. The following results are
obtained:
m
)(
~lirubin
Ill
3 120 µmol/L
..... Direct 110 µmol/L
.0 Urinary coproporphyrins normal with greater than 80% coproporphyrin 1
c
ro
VI
~
a·
::J
VI
(i) hepatitis C
{ii) Dubin-Johnson syndrome
(iii) Gilbert's syndrome
(iv) Crigler-Najjar syndrome
(v) Rotor's syndrome
(b) What will the liver biopsy show?
16.8 A 3~year-old is brought to you with obesity. He also has
AHMED HAMMOODI
undescended testes. In the neonatal p eriod he needed tube feeding.
(b) What are the two modes of inheritance?
(c) Which mode is more common?
16.9 A 21'2-year-old is referred to your clinic because of irritability and

sweatiness. There has been poor weight gain in the last six months.

(i) cystic fibrosis
(ji) TB
(iii) hyperthyroidism
(iv) Bartter's syndrome
(v) pseudo-Bartter's syndrome
(b) Suggest a treatment.
(c) What is the natural history?
182
16.10 An eight-year-old boy is under your care and is having a glycogen
stimulation test.
Time (s) GH (mU/L) Cortisol (nmol/L)

0 6.4 93 N
30 5.4 270 0
60 2.6 187 c
CD
90 1.1 120 "'
r+
120 2.8 125 o·
::J
180 7.2 184
!"
0
(a) What does the test show?

(i) normal
(ii) GH normal, cortisol deficient
(iii) GH deficient, cortisol normal
(iv) both deficient
(v) inadequate test
(b) What is your management plan?
AHMED HAMMOODI
(i) repeat test
(ii) give GH
(iii) give cortisol
(iv) give GH and cortisol
(v) leave alone
183
ANSWERS
m 16.1 (a) (i)

)JC
Ill
3 (b) (iv)
N
)> Comment: Look at Respiratory medicine chapter.
:J
VI
~
'1)
.....
16.2 (a) (iii)
VI
......
O'I
(b) (vii)
(c) (v, x, viii)

Comment: Unfortunately this just has to be learned!
16.3 (a) (ii)
(b) Normal.
Comment: Rem ember Rinne negative is always the abnormal ear.
AHMED HAMMOODI
16.4 (a) Incontinentia pigmenti.
(b) (iv)
Comment: There are a few m ales with this condition but most do not
survive.
16.5 (iii)
Comment: Diabetes insipidus is the diagnosis but the above is the
rmderlying diagnosis.
DI = diabetic insipidus
DM = diabetes mellitus
OA optic atroph y
D deafness
16.6 (a) (ii)
(b) Sitting height.

Comment: Shortening of limbs becomes more obvious at puberty.
Sitting height is nearer normal.
16.7 (a) (ii)
(b) Normal.
Comment: If you do not know the answer then rule out the ones with
unconjugated jaundice, then you are only guessing from two.
184
16.8 (a) Prader-Willi syndrome.
(b) Paternal deletion; maternal disomy.
(c) Paternal deletion.

Comment: Paternal deletion/maternal disomy =Prader- Willi
syndrome. Paternal disomy / maternal deletion= Angelman's
syndrome.
16.9 (a) (iii)
(b) Carbimazole propranolol.
(c) The child will grow out of it.
16.10 (a) (iv)
(b) (iv) GH supplementation: one i.m. injection six days a week.

Cortisol supplementation: ¥.morning, Y, evening; increased with
AHMED HAMMOODI
illness and early admission if vomiting.
Comment: (b) tells you the answer to (a)
185
AHMED HAMMOODI
Exam 3
QUESTIONS
17.1 An eight-year-old boy is admitted with a painful left ankle associated

with a limp. There was also some pain in the left wrist. On
examination he looks well and is apyrexial. There is no obvious
AHMED HAMMOODI
swelling. The pain settled with ibuprofen. There was a history of a
mild sore throat about three weeks ago:
Hb 12.4 g/dl
wee 10.6 x 109/L
Plate lets 474 x 10 9/L
ESR 56 x 109/L
Rh factor <20 mm/h
Anti-nuclear antibodies negative
He is still well one year later.
Give the most likely diagnosis.

(i) monoarticular arthritis
(ii) reactive arthropathy
(iii) sprained ankle
(iv) Still's disease
(v) streptococcal septic arthritis
187
17.2 You are asked to review a five-year-old girl with a nine-month history
of tenderness over the breasts. She is also noted to have developed
some pubic hair in the last two months. She is on the 97th centile but
m her bone age is not advanced. The following results are available:
><
Ill
3
w
.0 TSH 2.2 mU/L
c
fD Oestradiol 400 pmol/L
:a.o· Prolactin 131 (normal 0-450) mU/L
.,..
:J
LHRH test time (min) LH (U/L) FSH (U/L)
0 <1 40
30 22.0 19.2
60 14.3 19.9
(a) What do the tests show?
(b) What other investigation is necessary and why?
AHMED HAMMOODI
17.3 A four-year-old child with a positive family history of spherocytosis
rmdergoes an osmotic fragility test:
Mean cell fragility fresh 4.6 g/L NaCl (4-4.45)
post-incubation 6.6 g/L NaCl (4.65-5.9)
Has the child got spherocytosis?
188
17.4 A two-year-old boy is admitted with a swollen face and abd ominal
distension of seven days' standing. He has been treated for a sore
throa t:
m
)(
Ill
3
Hb 12.2 g/dl w
wee 13.9 x 109/L [)
c
Platelets 547 x 109/L 11)
Urea 3.3 mmol/L ...."'

Sodium 138 mmol/L
a·
:J
BP 120nO mmHg '-I
Albumin 16 g/L :i::.
Uri ne protein +++

(i) haemolytic uraemic syndrome
(ii) Epstein- Barr
(iii) nephritic syndrome
(iv) nephrotic syndrome
AHMED HAMMOODI
(v) UTI
(b) What is the initial treatment?
(c) What is the long-term course?
189
17.5 On holiday, a five-year-old presents with haematuria. There is no
history of illness and he is well.
~ Urine:
DI
3
""
0
c: RBe Uncountable
ID
~
WBe <2006/L
c;· No organisms seen
::J
-...J
Vl
Blood:
Hb 12.4 g/dl
wee 10.1x109/L
Sodium 136 mmol/L
Urea 3.2 mmol/L
AHMED HAMMOODI
Albumin 44 g/L
(a) Give three possible diagnoses.
(b) Name three further observations / investigations.
190
17.6 You are reviewing a nine-year-old in clinic wh om you have b een
treating with vasopressin for four years. You have just plotted his
height and weight (see chart):
205 --~---.--~-~--~-~---.-- -.---. -r--

5 6 7 8 9 10 11 12 13 14 liS 16 17
w
aoo
0
5-18yrs - ---+- c
1
195 co
VI
With pro..Utou for eohool II- - - + - - - + - r+
190 reception olu• 5·
:::!
185 NAME ..................................... +-
0.0.B. •.•.•. ! ...... ! ..... .
175
170
...
165
160
...
040 •
155
160
f
145
AHMED HAMMOODI
140 rI
1311
130
/
125
/
120 / _.....-J 9 L1t
/
1111 /
71ilh
110
r;o1., _
105
100
...""' ---
95
90
o.tlll
40
35
30
25
20
lll
years
10 I
II 8 7 8 9 10 . U 12 13 14
(© Child Growth Foundation. Reproduced with permission.)
191
(a) Give a likely diagnosis for the growth chart.
(i) inadequate vasopressin
(ii) diabetes mellitus
(iii) hypothyroidism
(iv) coeliac disease
(v) growth hormone deficiency
(b) Give an underlying diagnosis.
(c) Name two other tests you should do.
AHMED HAMMOODI
192
17.7 A 10-year-old boy is admitted to A&E unable to walk and
complaining of pain in his thighs. He has previously been fit and well:
Hb 14.0 g/dl
WBC 3.1 x 109/L w
Neutrophils 1.3 x 109 /L D
Platelets 128 x 109/L c
ID
Potassium 4.4 mmol/L .....
"'
Urea 4.4 mmol/L 6"
:i
CPK 2987 IU/L "'
"".!...
"Oo
(i) Duchenne's disease
(ii) Ewing's sarcoma
(iii) viral myositis
(iv) dermatomyositis
(v) steroid-induced myositis
AHMED HAMMOODI
(b) What is the prognosis?
17.8 The following results are from a sample of milk:
Protein 3.3 g/dl

Fat 3.7 g/dl
Sodium 24 mmol/L
What kind of milk is it?

(i) breast milk
(ii) formula milk
(iii) goat's milk
(iv) cow's milk
(v) pre-term formula
193
17.9 A three-year-old boy, who has had recurrent otitis media, is now
having difficulties hearing the television. If his right and left ears are
equally affected, what would you expect his Rinne and Weber tests to
~ show?
Ill
3
I.II
D Rinne left Rinne right Weber
c
11)
......
"' (i) positive negative right
0· (ii) positive positive central
:;,
"' (iii) negative positive central
-..J (iv) negative negative central
i.o (v) negative negative right
I
_.
-..J
17.10 A 12-year-old, known to have a VSD, has a cardiac catheterization:
RA 81
RV 80
AHMED HAMMOODI
Pulmonary 82
LA 96
LV 90
Aorta 90
What does it show?
194
ANSWERS
17.1 (ii)
Comment: Good response to ibuprofen with no return of symptoms.
The ESR can be raised.
17.2 (a) Pubertal response to LHRH stimulation test.
(b) MRI, as central cause indicated.

Comment: Remember, if LH/FSH is pre-pubertal, you would have to
scan adrenals and ovaries.
17.3 Yes.
Comment: You do not even need to know the test to answer this, as the
result is outside the normal range.
17.4 (a) (iv)
(b) High-dose prednisolone.
AHMED HAMMOODI
(c) Relapsing, but usually remains steroid sensitive.
17.5 (a) Renal stone; nephritic syndrome; viral cystitis.
(b) Kidney/ureter/bladder X-ray; urine protein; blood pressure.

Comment: There is no test for viral cystitis so concentrate on the other
two diagnoses.
17.6 (a) (v)
(b) Histiocytosis X.
(c) ACTH, TSH studies.

Comment: This is a good example of how (b) and (c) give clues to (a).
17.7 (a) (iii)
(b) He will get better.

Comment: CPK is high enough for muscular dystrophy but unlikely
because of the acute onset.
17.8 (iv)
Comment: This is one of those questions where it is very difficult to
rule out any of the answers so you may just end up guessing.
195
17.9 (iv)
Comment: Look at the Audiometry chapter.
m 17.10 Eisenmenger's syndrome through the VSD.

)(
QI
3 Comment: You would lose marks for just Eisenmenger's syndrome.
""
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:::>
VI
~
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0
AHMED HAMMOODI
196
Themed
questions
HOW TO ANSWER THEMED QUESTIONS
It is quite easy to get confused with so many answers.
I believe doing them in your head is a sure way of making a mistake.
AHMED HAMMOODI
It is worth doing each part as a separate question as they are not related, so
why not use a different colour for each when looking for wrong answers?
It is also possible to think of the diagnosis without looking at the answers
when you know the theme.
Finally, remember that the parts can have the same answer.
197
QUESTIONS
18.1 Theme - Syndromes

(i) Williams' (ix) McCune-Albright
(ii) Down's (x) tubular sclerosis
(iii) Turner's (xi) Alagille's
(iv) Noonan's (xii) Angelman's
(v) Marfan's (xiii) cri du chat
(vi) homocystinuria (xiv) Alport's
(vii) neurofibroma tosis (xv) Edward's
(viii) congenital adrenal (xvi) Patau's
hyperplasia
(a) You are reviewing a six-year-old girl with mild learning problems
and short stature. The baby had a murmur noted in the neonatal
period. The cardiologist diagnosed a pulmonary valve stenosis
but it has settled with no treatment.
AHMED HAMMOODI
(b) You are following up a toddler who in the neonatal period was
picked up as having peripheral artery stenosis and also some
abnormal biochemistry results.
(c) A four-year-old girl is referred to you because of precocious

puberty. The GP has checked the electrolytes and they are
normal. The examination is unremarkable apart from a large
birthmark and a few smaller ones.
(d) You are asked to review a newborn baby girl. Antenatally she
was noted to have a horseshoe kidney. On examination she is
very growth retarded; she also has rockerbottom feet.
198
18.2 Theme - Cardiac catheterization
RA RV PA LA LV A
(i) 65 65 65 95 95 95
(ii) 65 65 95 95 95 65
(iii) 65 75 75 95 95 95 ,Q
(iv) 65 65 65 95 95 85
c
ID
(v) 65 65 65 95 85 85 ....
UI
(vi) 75 75 75 94 94 94
c;·
::s
UI
D
cfl)
"'
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Which of the above is consistent with: .....
~
N
(a) A cyanotic newborn with no murmur?
(b) A baby with a localized murmur at the LSE?
AHMED HAMMOODI
(c) An ejection systolic murmur radiating to the back?
199
18.3 Theme - Chromosomes
(i) 1 (xiii) 13
....
::r
(ii) 2 (xiv) 14
ID (iii) 3 (xv) 15
3 (iv) 4 (xvi) 16
ID
a.
.a (v) 5 (xvii) 17
c (vi) 6 (xviii) 18
ID
VI
rt- (vii) 7 (xix) 19
a·
::s (viii) 8 (xx) 20
VI
(ix) 9 (xxi) 21
0 (xxii) 22
c (x) 10
ID
VI
r+
5·
(xi) 11 (xxiii) x
:::i (xii) 12 (xxiv) y
00
w
(a) You are reviewing a four-year-old with increasing weight which
the mother is surprised about as she needed nasogastric feeds as
a neonate.
AHMED HAMMOODI
(b) You are reviewing a seven-year-old who has just started having
seizures. He also has some learning difficulties.
(c) You are seeing a seven-year-old girl with moderate bleeding

problems. Her results are as follows:
Bleeding time - increased
PT-normal
APPT - slightly increased
TT - normal
(d) You are reviewing a two-week-old baby with hepatitis. Two

relatives are under the respiratory physician for emphysema.
200
18.4 Theme - Vitamins and nutrients
(i) A (vii) K
(ii) B6 (viii) copper
(iii) 8 12 (ix) folate
(iv) c (x) iron
(v) D (xi) zinc
(vi) E (xii) calcium
Which of the above are the following children most at risk of being
deficient?
(a) A six-month-old baby who is fully breast-fed and the mother is

asking for advice about weaning (give two).
(b) An eight-month-old who is thriving but seems not to be very

hungry. On questioning he is drinking five to six bottles of
doorstep milk a day (give one).
AHMED HAMMOODI
(c) A 15-year-old who is on an elemental diet for his Crohn's disease.
He has had two operations for strictures (give two).
(d) A 10-year-old girl who, along with her mother, has been a strict
vegan for the last two years (give one).
201
18.5 Theme - Eye changes
(i) chorioretinitis
(ii) cataracts
(iii) corneal clouding
(iv) upward dislocation of lens
(v) downward dislocation of lens
(vi) retinitis pigmentosa
(vii) retinopathy of prematurity
(viii) glaucoma
(ix) papilloedema
Which eye change is most likely?
(a) An ex-premature 26/40 baby is being reviewed when you notice

nystagmus. He is also noted to have a small head and a
subsequent CT shows calcification. What is the most likely cause
of the nystagmus?
(b) You are asked to see an eight-year-old boy with some learning
AHMED HAMMOODI
difficulties as a possible Marfan's syndrome. However, you feel
that the child probably has homocystinuria. What eye signs
would confirm this?
202
18.6 Theme - Head - diagnostic tests
(i) FBC (ix) CRP
(ii) FBC +film (x) amylase -t
~
(iii) U&Es (xi) glucose ID
(iv) U&Es +chloride (xii) sweat test 3
ID
Q.
(v) arterial gas (xiii) anti-endomysial antibodies
.a
(vi) LFis (xiv) IgEand RAST c
ID
(vii) TFTs (xv) Group and Coombs VI
r+
(viii) C3 C4 (xvi) bilirubin Q-bone marrow c;·
:II
VI
Which single test will be most helpful in confirming a diagnosis? [.)
i:
(!)
(a) A 10-year-old girl presents with abdominal pain and diarrhoea. ....
V1
Ci'
:J
She is noted to have a node in her neck and her BP is 110/70. Her
urine has 3+ blood and 3+ protein.
(b) A newborn baby is the product of the third pregnancy of a 28-

year-old Caucasian. The mother is 0 rhesus positive and there is
jaundice noted at 15 hours.
AHMED HAMMOODI
(c) A six-year-old child presents with abdominal pain and diarrhoea.
You notice that she has a palpable spleen. Her mother says she
and her sister had splenectomies as teenagers.
(d) A three-week-old presents with increasingly forceful vomits.

There is no weight loss and he is still hungry.
(e) You are seeing a 15-year-old boy with severe abdominal pain. In
the past he has had a normal appendix removed. During this
episode he notices his stools are fatty. He is tender and pale but
otherwise well.
(£) You have been seeing a three-year-old in clinic for six months. He
has a history of diarrhoea and asthma. You notice his weight is
beginning to tail off.
(g) A 25-weeker is now eight weeks old and is on 0.2 L/min of

oxygen. He has twice failed to wean from this level and there is
talk of home oxygen.
203
18. 7 Theme - Arterial gases
....:::r pH PC02 HC03 BE

ID
P02
3 (i) 7.41 56 70 32 +9
ID
D. (ii) 7.45 30 60 33 +11
.Cl (iii) 7.48 22 130 25 - 10
c (iv)
ID 7.29 46 29 19.2 -4.4
....
Ill
{v) 7.37 33.8 46.5 20.5 -4.8
c;· (vi) 7.25 40 60 15 -9.0
:sIll
(vii) 7.10 25 80 5 -16.0
Which gases fit the clinical case?
(a) You are called by A&E, who have a 15-year-old who is said to
have ingested a mixture of aspirin and paracetamol two hours
earlier. She is previously known to have been in with alcohol
intoxication.
AHMED HAMMOODI
(b) A 25-weeker on SCBU has been stable for the past two hours
when suddenly the sats drop to the 70s and the blood pressure
drops to 27 /15, mean 19. Increasing the oxygen from 60% to
100% doesn't seem to help. There is a bilateral good air entry and
cold light is normal.
(c) An ex-prem of 25 weeks is still in oxygen at 38 weeks. The X-ray

is consistent with chronic lung disease. As he is stable, he is due
to go home.
204
18.8 Theme - Development
(i) 6 weeks (viii) 2 years
(ii) 3 months (ix) 272 years -I
(iii) ::T
6 months (x) 3 years ID
(iv) 9 months (xi) 3Yi years 3
ID
(v) 12 months (xii) 4 years a.
(vi) 15 months (xiii) 4% years .c
c
ID
(vii) 18 months (xiv) 5 years ....
VI
a·
:J
How old are these children? VI
0
c(!)
(a) Tom can kick a ball and has just started riding a tricycle. He can
put two words together but will not say his name.
....
"'
c;·
::l
....CX>
(b) Jane is turning to your voice and will sit alone for a few minutes. Co
She is also becoming shy to strangers. She will eat with her
fingers but not drink from a cup. She has not started saying
'mama', 'dada' yet.
(c) Peter copies a circle and is just beginning to hop. He cannot draw
AHMED HAMMOODI
a cross yet.
(d) Jack has lost his stepping reflex but still has his Moro and tonic
neck reflexes.
(e) Becky has lost her stepping, Moro and grasp reflexes but has a
Galant's reflex. She doesn't have a parachute reaction.
(f) Amy can build stairs and copy a square.
205
18. 9 Theme - Milks
-I
::r /100 ml Energy (kcal) Protein (g) Ca (mg) Na (mg)
Ill
3 (i) 70 1.8 22 29
Ill
a. (ii) 80 2.4 100 41
.a (iii) 70 1.3 35 15
c (iv) 67 3.4 124 52
Ill
~ (v) 68 1.5 56 26
c;· (vi) 75 1.0 70 80
:I
Ill
0
c
ID
~
6' Which is consistent with the following milks?
:::l
VI
00
\.o (a) Cow's milk.
I
~
00
(b) Breast milk and fortifier.
0
(c) Premature formula.
AHMED HAMMOODI
18.10 Theme - Cardiac catheterizations
RA RV PA LA LV A
(i) 58 60 59 95 94 95
(ii) 58 70 70 95 95 95
(iii) 75 75 75 95 95 95
(iv) 60 60 60 95 85 85
(v) 60 60 75 95 95 95
(vi) 60 60 60 95 94 87
Which of the above is most consistent with the following diagnosis?
(a) ASD.
(b) Aortic stenosis.
(c) Primar y pulmonar y hypertension with patent duct.
(d) Pulmonary stenosis.
(e) Tetralogy of Fallot with cyanosis.
206
18.8 Theme - Development
(i) 6 weeks (viii) 2 years
(ii)
(iii)
3months
6months
(ix)
(x)
2Yi years ...::r
3 years ID
(iv) 9 months (xi) 314 years 3
ID
(v) 12 months (xii) 4 years a.
(vi) 15 months (xiii) 4Yi years .a
c
ID
(vii) 18 months (xiv) 5 years ~
c;·
How old are these children? :J
Ill
0
c
(a) Tom can kick a ball and has just started riding a tricycle. He can (1)
put two words together but will not say his name.
....
VI
6'
:::J
00
(b) Jane is turning to your voice and will sit alone for a few minutes.
Co
She is also becoming shy to strangers. She will eat with her
fingers but not drink from a cup. She has not started saying
'mama', 'dada' yet.
AHMED HAMMOODI
(c) Peter copies a circle and is just beginning to hop. He cannot draw
a cross yet.
(d) Jack has lost his stepping reflex but still has his Moro and tonic
neck reflexes.
(e) Becky has lost her stepping, Moro and grasp reflexes but has a
Galant's reflex. She doesn't have a parachute reaction.
(f) Amy can build stairs and copy a square.
205
18.9 Theme - Milks
/100 ml Energy (kcal) Protein (g) Ca (mg) Na (mg)
(i) 70 1.8 22 29
(ii) 80 2.4 100 41
(iii) 70 1.3 35 15
(iv) 67 3.4 124 52
(v) 68 1.5 56 26
(vi) 75 1.0 70 80
Which is consistent with the following milks?

CXl
l.O (a) Cow's milk.
I
......
!JC'
0
(b) Breast milk and fortifier.
(c) Premature formula.
AHMED HAMMOODI
18.10 Theme - Cardiac catheterizations
RA RV PA LA LV A
-
(i) 58 60 59 95 94 95
(ii) 58 70 70 95 95 95
(iii) 75 75 75 95 95 95
(iv) 60 60 60 95 85 85
(v) 60 60 75 95 95 95
(vi) 60 60 60 95 94 87
Which of the above is most consistent with the following diagnosis?
(a) ASD.
(b) Aortic stenosis.
(c) Primary pulmonary hypertension with patent duct.
(d) Pulmonary stenosis.
(e) Tetralogy of Fallot with cyanosis.
206
18.11 Theme - Head - underlying diagnosis
(i) Kawasaki's (ix) rheumatic fever
syndrome (x) herpes
(ii) infectious (xi) TB
mononucleosis (xii) inflammatory
(iii) erythema bowel disease
infectiosum (xiii) HSP
(iv) measles (xiv) meningococcal
(v) German measles septicaemia
(vi) pityriasis rosea (xv) roseola infantum
(vii) scabies .0
c
(viii) urticaria m
"'
..+
6'
Which diagnosis is most likely? :::J
!lO
(a) You are reviewing a three-year-old on the ward who was
admitted 24 hours ago with pyrexia. The urine is clear and
examination on admission was unremarkable. On review she
now has a widespread macular rash and her temperature seems
to be settling.
AHMED HAMMOODI
(b) A four-year-old child is admitted with an urticarial rash on the
lower limbs and some pain in the right knee. Over the next 12
hours the child complains of some abdominal pain and some of
the rash becomes non-blanching.
(c) A six-year-old child is admitted with pyrexia and is slightly

irritable. On examination she is snuffly with what looks like
numerous flea bites.
(d) A little girl is admitted with a sore mouth and a macular rash.
Over the course of time several lesions appear like targets and
you suspect it is erythema multiforme.
207
18.12 Theme - Metabolic disorders
(i) maple syrup urine disease

-4 (ii) acute hereditary tyrosinaemia
~
11)
(iii) non-ketotic hyperglycaemia
311)
a. (iv) urea cycle disorder
.D (v) propionic acidaemia
c
11) (vi) galactosaemia
l!:. (vii) glycogen storage disease Type 1
c;·
:::s (viii) pyruvate dehydrogenase deficiency
Ill
(ix) MCAD
(x) mitochondrial disease
(xi) Menke's disease
(xii) Smith-Lemli-Opitz syndrome
Which diagnosis is most likely?
(a) A four-month-old baby is seen in out-patients because of worries

about development. The neonatal period shows a history of poor
temperature. On examination there is abnormal tone and hair.
AHMED HAMMOODI
(b) You are reviewing a baby on SCBU with continuing severe
hypoglycaemia. Some of the results show a marked lactic
acidosis, hyperuricaemia and hyperlipidaemia. Abdominal
ultrasound shows a large liver although it is difficult to palpate.
(c) A seven-day-old is rushed into A&E with vomiting and he has

lost more than 10°/., of weight. He looks septic and this is proven
to have E. coli with associated UTT. The liver is palpable.
208
ANSWERS
18.1 (a) (iv)

Comment: Originally called male Turner's syndrome. Also affects girls.
(b) (xi or i)
Comment: Sorry, there will only be one answer in the exam.
(c) (ix)
)>
(d) (xv) :i
VI
Comment: Horseshoe kidney also occurs in Turner's syndrome. ~
,
ID
VI
18.2 (a) (ii)
(b) (iii)
(c) (i)
Comment: Remember - draw a box and work out what you are
AHMED HAMMOODI
looking for with each diagnosis.
18.3 (a) (xv}
(b) (xii)
(c) (xiv)
(d) (xvi)
Comment: Worth a card as over tim e you will now collect numerous
syndromes with their associated chromosome. Very easy to w rite
questions.
18.4 (a) (v and vii)
(b) (x)
(c) (iii and v)
(d) (iii)
Comment: Terminal ileum.
18.5 (a) (i)
(b) (v)
Comment: Hom ocystinuria - low intelligence so lens down.
209
18.6 (a) (viii)
(b) (xv)
-I
::r
ID
(c) (ii)
3
ID
a.
.a (d) (iv)
c
...c;·
ID
Ill
(e) (x)
~
Ill
)>
(f) (xii)
:I
"'~ (g) (i)
(1)
.....
"' Comment: With each of these try and think of the diagnosis and then
00
0-.
the test.
.!..
00
lo 18.7 (a) (iii)
(b) (iv)
AHMED HAMMOODI
(c) (i)
Comment: For all of these try and decide what each column should do
before looking.
18.8 (a) (viii)
(b) (iii)
(c) (x)
(d) (ii)
(e) (iii)
(f) (xiii)
Comment: Draw a chart of development - this will be very useful for
the clinical.
18.9 (a) (iv)
(b) (ii)
(c) (ii)
Comment: (i) pre-term breast; (ii) breast and fortifier or Nutriprem; (iii)
term milk; (iv) cow; (v ) SMA; (vi) made u p.
2 10
18.10 (a) (iii)
(b) (i)
-4
::J"
ft)
(c) (vi)
3ft)
Q.
(d) (i) .a
cft)
(e) (iv) ...a·"'
Comment: Hope you have drawn the boxes. :J
"')>
:::l
18.11 (a) (xv) VI
:E
~
VI
(b) (xiii)
...
!JO
(c) (xiv) ...!JO
0
I
(d) (x) N
Comment: Did you need the answers?
AHMED HAMMOODI
18.12 (a) (xi)
(b) (vii)
(c) (vi)
211
AHMED HAMMOODI
Practice exam
QUESTIONS
19.1 You are called to SCBU, where a septic 28-weeker 1.5 kg is on a

ventilator. He is running a base deficit of - 9 despite fluid boluses. It is
now affecting ventilation needs so it is decided to treat him w ith 4.2'Yo
AHMED HAMMOODI
HC03 .
How much is needed for a 1/2 correction?

(i) 4 ml
(ii) 9 ml
(iii) 2 m l
(iv) 2.25 ml
(v ) 4.5 ml
19.2 You are reviewing a six-year-old boy with a one-week history of non-
productive cough . He has an intermitten t temperature and crackles at
the left base. The X-ray shows some shadowing. You take an FBC and
culture: Hb 9.3, wee 13.6, 30% neutrophils.
Which antibiotic is likely to be m ost use?

(i) oral augmentin
(ii) i.v. augmentin
(iii) oral erythromycin
(iv) i.v. er ythromycin
(v) i.v. cephalospor in
213
19.3 You are seeing a nine-year-old girl with a two-day history of initially
diarrhoea then bile-stained vomit. She has had no vomiting for 24
hours but some abdominal pain. There are 35 WCC in the urine. The
.,,... bowel sounds are present but you suspect she has appendicitis.
Al
~
;:;· Which of the following wee would fit with the diagnosis?
11)
11) (i) 3
>C
Al (ii) 7
3 (iii) 10
0
c (iv) 20
rt>
"'
~.
(v) any of the above
0
::J
"'
~ 19.4 You are reviewing the routine bloods of a 12-week-old 24-weeker. She
w
....I
lO
was on TPN for three weeks and is now on EBM .
:i:.
The following results are available:
AHMED HAMMOODI
Hb 9.6
Platelets 265
Ca 2.2
Reticulocytes 4.2
Alkaline phosphatase 950
Phosphate 1.1
GT 250
What further investigation would be most helpful?
(i) wrist X-ray

(ii) split bilirubin
(iii) LFTs
(iv) bilirubin
(v) urinary phosphate
214
19.5 You are reviewing four siblings because a cousin has died suddenly.
The post mortem is normal and prolonged QT is suspected. You have
the following results:
Age QT
Child A 2 weeks 0.46 s
Child B 3 years 0.41 s
Child C 6 years 0.46 s
Child D 10 years 0.38 s
How many have prolonged QT?
(i) 0
(ii) 1
(iii) 2
(iv) 3
(v) 4
AHMED HAMMOODI
19.6 You are writing guidelines for resuscitation. How many ml/kg is right
for the treatment of hypoglycaemia for infants?
(i) 1 ml/ kg of 10%

{ii) 5 ml/kg of 10%
(iii) 5 ml/kg of 50%
(iv) 1 ml/kg of 50%
(v) 1 ml/kg of 25%
19.7 A 10-year-old boy is admitted with bruises and petechiae. An FBC

reveals ITP.
Which of the following would suggest a need for treatment?
(i) a three-week history

(ii) a two-day history
(iii) a platelet count of 1
{iv) bleeding from the mouth
(v) a bone marrow confirming the diagnosis
215
19.8 You are doing a first-day check and don't think there is a red reflex.
Your registrar agrees with you. Which of the following is not likely?
...Ill"a (i) glaucoma

Q. (ii) cataract
n'
ID
(iii) retinoblastoma
ID (iv) chorioretinitis
)(
Ill (v) none of above
3
.0
c
Ill
"'.-+ 19.9 Blood tests.
6'
~
....lO
VI
(i) FBC
00 (ii) CRP
.!... (iii) U&Es
l.O
i.o (iv) LFfs
(v) TFfs
(vi) PCR
(vii) Bone profile
(viii) chloride
AHMED HAMMOODI
(ix) blood sugar
(x) blood culture
(xi) clotting
(xii) paracetamol levels
(xiii) gas
Pick your first-choice test.
(a) A 12-year-old boy comes in on a Friday night having taken up to

20 paracetamol tablets the night before.
(b) A six-week-old baby is losing weight and seems to be hyper-alert

and jittery.
(c) A 12-week-old ex-25-weeker has a normal gamma GT but a

markedly raised alkaline phosphatase.
216
19.10 A three-year-old child has had confirmed shigella, has come in with
deterioration and is shut down. His urea and creatinine are raised.

(i) haemolytic uraemic syndrome
(ii) shigella septicaemia
(iii) dehydration ID
>C
(iv) pre-renal failure Ill
(v) none of the above 3
.0
c
II>
~
19.11 You are asked to see a baby with microcephaly on the labour ward. a·
:i
"'
.....
~
Which of the following is unlikely?
(i) maternal PKU ?.....
(ii) PKU
(iii) CMV
(iv) rubella
(v) none of the above
AHMED HAMMOODI
19.12 You are seeing this baby on the postnatal wards and clinically you
think Turner's, heart sounds and femorals are normal. Which one of
the following is not associated with this condition?
(i) coarctation
(ii) central infertility
(iii) horseshoe kidney
(iv) normal life expectancy
(v) leukaemia
217
ANSWERS
19.1 (v) 1/ 3 x 1.5 x 9 = 4.5 ml (always look to see the concentration).

..."'Cl
Ill
£'~ 19.2 (iii} This picture fits with atypical pneumonia.

ID
: 19.3 (v) The white cormt is not specific in appendicitis but it should be
3 over 70% neutrophils.
)>
::J
~ 19.4 (ii) Her GT suggests there is cholestasis.
II)
Vl
~ 19.5 (ii) QT is normal up to 0.44 but in neonates it can be up to 0.48.
_.
I
_.
~ 19.6 (ii) No longer use 25% or 50%.
N
19.7 (iv)
Comment: Often the lowest count is on admission and guidance for
treatment is bleeding.
AHMED HAMMOODI
19.8 (iv) This would have a red reflex.
19.9 (a) (xi)
(b) (v)
(c) (vii)
Comment: Come up with a diagnosis first.
19.10 (i)
19.11 (ii) This will cause microcephaly over time.
19.12 (ii) Streaked ovaries.
218
Practice exam
long questions
HOW TO DO LONG QUESTIONS
The secret is to use the description to create the three-dimensional picture.

Read the question, underlining anything that you feel is relevant. At the
same time write diagnoses down the side that come to mind and then cross
AHMED HAMMOODI
out any that stop being relevant.
219
20.1 Peter was born at 41 weeks' gestation and weighed 4.3 kg. His head
circumference was 37 cm. He is the fourth baby of a Caucasian couple.
They have two boys and a girl.
...Ill"Ill There was a fetal tachycardia with some decelerations. His Apgar
!lo scores were 9 and 9 and following a normal first examination he was
n·
RI
discharged.
RI At six months of age he was admitted during the morning
>C
Ill because his mother was unable to wake him. He had vomited the
3 previous night.
0 On examination his temperature is 39°C. His pupils are small but
:s
U2 reactive. There are no herpetic lesions or rash. His chest is clear and
.ac
.
RI
Ill
cs·
:s
abdomen soft. His coma assessment is as follows:
No verbal response
Ill
.0 Eyes react to pain

c
Ill
....
VI
5· He flexes to pain
::i
IV
!=>
(a) What is his initial modified Glasgow Coma Scale?
AHMED HAMMOODI
(i) 4
(ii) 5
(iii) 6
(iv) 7
(v) 8
(b) What is the most important initial test?

(i) blood glucose
(ii) arterial gas
(iii) FBC
(iv) U&Es
(v) blood culture
An i.v.i. is set up and bloods are taken and the following results are
available:
Na 147
K 5.6
u 15.7
HC03 15
Glu 0.5
FBC clotted
Treatment is started.
220
(c) Which of the following is the most important initial treatment?
(i) saline bolus
(ii) dextrose bolus
(iii) broad-spectrum antibiotic
(iv) rectal paracetamol
(v) aciclovir
At 12.30 he starts fitting and is initially treated with diazepam.

However, the fits continue and a decision is made to ventilate and
transfer.
His first arterial gas shows:
pH 7.266
pC02 30.4
p02 176
HC03 17.8
BE - 8.4
Blood glucose 13.2
AHMED HAMMOODI
(d) What type of gas is this?
(i) metabolic acidosis
(ii) respiratory acidosis
(iii) partially compensated metabolic acidosis
(iv) mixed acidosis
(v) partially compensated respiratory alkalosis
Prior to transfer, he has a normal CT scan and you have started him
on both aciclovir and ceftriaxone.
(e) Which of the following is most likely?

(i) sepsis
(ii) non-accidental injury
(iii) herpes encephalopathy
(iv) metabolic disorder
(v) drug ingestion
221
20.2 John was a normal term delivery with good Apgar scores. He was
doing well until six months, when he was admitted unrousable and
hypoglycaemic. This was very resistant to treatment and he required
ventilation for 20 days. His diagnosis on discharge from the regional
intensive care unit was glutaric aciduria Type II.
(a) Which of the following tests is used to confirm this diagnosis?

(i) paired blood and urine amino acids
(ii) liver biopsy
(iii) white cell studies
(iv) fibroblast culture
(v) muscle biopsy
Over the next few weeks his tone increases, so it is decided that
baclofen should be started. He continues to have severe seizures
which need control with both lamotrigine and clonazepam.
At the age of nine months his seizures are well controlled and he
is gastrostomy fed.
He has frequent admissions over the next two years with seizures.
When he is about three, he comes in fitting.
AHMED HAMMOODI
(b) What weight is he?
(i) 11 kg
(ii) 12 kg
(iii) 13 kg
(iv) 14 kg
(v) 15 kg
The ambulance staff have given him rectal diazepam and, as he has
been fitting for 30 minutes, you decide to give him i.v. lorazepam.
(c) What is the correct dose for this?

(i) 0.1 mg/kg
(ii) 0.25 m g /kg
(iii) 500 µg/kg
(iv) 1 mg/ kg
(v) 5 m g /kg
222
(d) After the lorazepam how long do you wait before considering
paraldehyde?
(i) 1 minute
(ii) 2 minutes
(iii) 5 minutes
(iv) 8 minutes
(v) 10 minutes
Unfortunately he continues to fit so you decide to give him
thiopentone and intubate him.
(e) The correct tube size is:

(i) 3Yi
(ii) 4
(iii) 41>
(iv) 5
.0
(v) 5Jt2 c
11)
~
6"
::::l
IV
0
iv
AHMED HAMMOODI
223
20.3 Jessica was born by emergency section after a fetal tachycardia. She
had a history of ruptured membranes for 30 hours. She responded to
bag and mask and was transported to SCBU in 40% oxygen. She was
.,
"O
Ill
noted to have a single umbilical artery. A UAC was inserted and a
~ bolus of saline was given. Her first capillary gas was:
;:r
ID
ID
)(
Ill
pH 6.96
3 pC02 16 kPa
0:I
p02 5.5 kPa
ID HC03 16.3
.a BE - 9.8
c
...
ID
Ill
()"
:I
Ill (a) Which of the following best describes the gas?
0 (i) metabolic acidosis
c
11>
(ii) metabolic acidosis with hypoxia
"'0
!::!.
(iii) mixed acidosis with hypoxia
::i
N (iv) mixed acidosis
0
w (v) metabolic alkalosis
AHMED HAMMOODI
The baby is intubated and surfactant is given. UVC is inserted and the
X-ray suggests surfactant deficiency. After two boli of saline
dopamine and dobutamine were started. Four hours later the gas is:
pH 7.322
pC02 3.6 kPa
p02 8 kPa
HC0 3 16
BE - 11.3
(b) What does this gas show?

(i) compensated respiratory alkalosis
(ii) compensated respiratory acidosis
(iii) compensated metabolic alkalosis
(iv) compensated metabolic acidosis
(v) mixed acidosis
224
Four hours later the pH has deteriorated to 7.18 and so the ventilator
is increased and a Yi correction of bicarbonate is given. She starts
having fits shortly afterwards and is loaded with phenobarbital and
then clonazepam.
At 24 hours she is in 100% oxygen with a mean airway pressure of 14.

Her arterial oxygen is 9.3.
(c) What is her oxygen index?

(i) 10
(ii) 15
(iii) 20
(iv) 25
(v) 30
AHMED HAMMOODI
225
20.4 John is born at 39 weeks by emergency section for meconium and
failure to progress. He came out crying with good Apgar scores.
Initially he went to the wards but very quickly started grunting and
..
'V
~
within 2 hours was ventilated.
!:lo
n·
Ill
The X-ray was consistent with meconium aspiration; however, the
Ill CRP was raised up to 320 and the blood culture grew Listeria.
~
~
3 (a) What do the bacteria look like?

0 (i) Cram-positive cocci
:s
ID
.D.
(ii) Gram-negative cocci
c (iii) Gram-positive rod
Ill
....
Ill
(iv) Gram-negative rod
o·
:s (v) spirochaetes
Ill
,()
c (b) How long does he need antibiotics for?
C'll
....
"' (i) 5 days
o· (ii) 7 days
:J
N
p (iii) 10 days
(iv) 14 days
AHMED HAMMOODI
""' (v) 21 days
226
20.5 Jane was born at 33 weeks in good condition with Apgar scores of 10
and 10. She has a history of prolonged rupture of membrane and at
1.2 kg is on the 0.4th centile. Because of the prolonged rupture she is
screened. The following results are obtained:
II)
Chest clear )C
CRP <1 Ill
Hb 19.2 3
wee 11.2 0
:::s
Platelets 295 IQ
CSF RBC 10 0000 .Q
WBC 35 c
II)
G-stain negative ....
Ill
a·
:::s
Ill
D
After 48 hours the cultures come back negative. c
Cl)
.....
"'
6'
(a) Do you: :::l
N
(i) stop antibiotics 0
V1
AHMED HAMMOODI
(ii) continue for 5 days
(iii) continue for 7 days
(iv) continue for 10 days
(v) continue for 14 days
Over the next few days she gets on to full feeds and is doing well.
However, on day eight she spikes a temperature and starts grunting.
She is screened and put on second-line antibiotics.
The following results are available:
Day 8 9 10
CRP 11 14 34
Hb 17
wee 13
Platelets 300
Blood cu lture Gram-positive cocci after 36 hou rs
227
(b) What is the significance of the culture?
(i) contamination
(ii) Staphylococcus aureus
(iii) Group B streptococcus
(iv) coagulase-negative staphylococcus
(v) E.coli
She continues to deteriorate and is therefore transferred to the

teaching centre and undergoes a laparotorny. They remove the right
colon and appendix although it has perforated it looks healthy. There
is nil else to find. After the operation she improves and her stomas are
working.
By day 29 she is fully orally fed and growing. She is off
antibiotics. You get the following report from the cytogenetics: No CF
mutations detected. The mutations tested cover 90% of local
.0 mutations.
c
11)
VI
.....
5· (c) What is the risk of missing CF?
:i
N
0
(i} 0%
U"I (ii) 0.01%
AHMED HAMMOODI
(iii) 0.1%
(iv) 1%
{v) 10%
228
ANSWERS
20.l (a) (iii)
(b) (i)
Comment: Although probably septic because of his age, you need his
glucose result.
(c) (ii)
Comment: Shows the importance of underlying the abnormal results.
(d) (iii)
(e) (i)
Comment: (iii) and (iv) are both possible but with the pyrexia the
hypoglycaemia is most likely secondary to sepsis.
20.2 (a) (iv)
AHMED HAMMOODI
(b) (iv)
(c) (i)
(d) (iii)
(e) (iii)
Comment: These are all APLS questions - you need to have been on it
to be a registrar so why wait?
20.3 (a) (iv) Ca1mot comment on the 0 2 as capillary gas.
(b) (iv)
(c) (iii) (100 x 14)/(9.3 x 7.5)
20.4 (a) (iv)
(b) (iv)
20.5 (a) (i)
(b) (iv) Contamination if grown at birth.
(c) (iv) Two chromosomes - covered 90% of mutations each so

missed 10%:
10% x 10°,{, = 1%. 229

AHMED HAMMOODI
Index
63(66) indicates the locator for a question followed in brackets by the locator for its answer.
The reader will often find the entry only located in the answer. 75(HH) refers to a 'helpful
hint'.
Absence epilepsy, 63(66) Asthma, 6(9), 7(9), ll(HH), 13(17), 14(17),

ACE inhibitors, 85(88) 16(18)
AHMED HAMMOODI
Achondroplasia, 174(178) sweat test, 203(210)
Acidosis, 107(108) Atrial enlargement/hypertrophy, 33(37),
lactic, 208(211) 41(HI-I), 43(47)
metabolic, 220-1(229) Audiograms
mixed, 224-5(229) bone conduction, 56(58)
renal tubular, 173(177) conductive deafness, 49(53), 57(58),
respiratory vs metabolic, 109(HH) 173(177)
Acne, 141 (147) sensorineural hearing loss, 51(53)
Adenosine dosage, 112(113) Audiometry, 49-58
Adrenaline dosage, 105(108) Autism, 142(147)
Alagille's syndrome, 198(209) Autosomal dominant inheritance,
Alkaline phosphatase levels, 216(218) 83(HH)
Alkalosis, 95(98), 224-5(229) Autosornal recessive inheritance, 77--8(81),
age, 109(HH) 83(HH), 138(139), 176(178)
Altitude hypoxia, 15(18) AVSD, 20(22), 34(37)
Anaemia, 116(125)
Angelman's syndrome, 182(185) Back pain, 117(125), 118(125)
Anion gap, 106(108), 109(HH) Barter's syndrome, 95(98)
Anorexia, 132(134) BBB see btmdle branch block
Anti-endomysial antibodies, 129(134), Behavioural disorders, 71(76),
132(134) 165(169)
Anti-leukotrienes, 7(9) Benzodiazepine, 70(76)
Antibiotics, 173(177), 175(178), 213(218), Bernard- Soulier disease, 115(125)
226(229), 227-8(229) Beta-agonists
Antioxidants, 151 (154) asthma, 7(9), 14(17), 16(18)
Aortic coarctation, 21(23) cystic fibrosis, 15(18), 164(168)
Aortic stenosis, 28(30), 206(211) Bicarbonate
in trisomy 18, 20(22) administration, 107(108), 213(218)
Williams' syndrome, 171-2(177) levels, 173(177)
Appendicitis, 214(218) Bigernini, 45( 47)
Appendix, perforated, 227-8(229) Biliary atresia, 1.29(134)
Arterial gases see blood gases Bilirubin levels, 214(218)
Arthritis, systemic juvenile, 121(126) Blackfan-Diamond syndrome, 116(125)
Arthropathy, reactive, 187(195) Bleeding problems, 122(127), 200(209),
ASD, 19(22), 25(HH), 206(211) 215(218)
Aspirin, 109(HH) Bleeding time, 123 (127)
Aspirin intoxication, 204(210) Blood cell ratios, 158(167) 231
Blood gases, 106(108), 109(HH), 204(210), Constipation, 131.(1 34)
220-1(229) Constrictive thoracic dystrophy, 174(178)
surfactant deficiency, 224-5(229) Convulsions see sei.7.u res
Blood groups, 122(126), 203(210) Coombs test, 120(126), 203(210)
Blood pressure, raised see hypertension Coronary abnormalities, 20(22)
:I Bone marrow biopsy, 116(125), 117(125), Corticosteroids see steroids (corticosteroids)
a. 122(126) Cortisol supplementation, 183(185)
ID
)( Bone profile, 216(218) Creatinine levels, 96(98), 101 (J03)
Bronchodilator response, 14(17) Crohn's d isease, 132(134), 201(209)
Bruising, 11 8(125), 119(126), 122(127), Cushing's syndrome, 141(147)
1.23(127), 162(168), 215(218) Cyanosis, 15(18), 35-6(37), 106(108),
Bundle branch b lock (BBB) 109(HH), 199(209)
left, 40(HH) Cyanotic heart disease, 27(30)
right, 35-6(37), 40(HH) Cystic fibrosis, 6(9), 7(9), 11(HH), 14(17),
complete, 28(30) 15(18)
partial, 29(30), 35-6(37), 42(HH) detection, 227-8(229)
inheritance, 84(88)
C3Cu test, 203(210) lung function tests, 164(168)
Calorific requirements, 152(154) and p ancreatitis, 131(134)
Caput succedaneum, 162(168) Cystitis, viral, 190(195)
Carbimazole, 182(185)
Carbon dioxide levels, 110(113), 150(154) Deafness see hearing loss
Carbon monoxide poisoning, 12(17) De fibrillation, 111(113)
Cardiac pressures, 24(HH), 26(30) Dehydration, 96(98)
aortic coarctation, 21(23) Deletion, 182(185)
aortic stenosis, 28(30) Delta wave, 42(HH)
AHMED HAMMOODI
ASD, 19(22) Derma tomyositis, 138(139)
lu ng disease, chronic, 20(22) Dermoid, sites of, 156(166)
PDA, 27(30) Development, 180(184), 205(210),
right ventricular hypertrophy, 21(22) 208(211)
shunting, 25(HH) Dextrose solutions, 99(HH), 220-1(229)
Cardiology, 19- 30 Di George's syndrome, 79(82)
congenital heart disease, 106(108) Diabetes insipid us, 181 (184)
emergencies, 105(108) Diabetes mellitus
Catheterization anti-cndomysial antibodies, 132(134)
cardiac, 19-30, 194(196), 199(209), diarrhoea/vomiting in, 204(210)
206(211) ketoacidosis, 97(98), 106(108)
umbilical artery, 102(104), 224-5(229) non-ketotic hypcrosmolar coma, 97(98)
Cephalhacmatoma, 162(168) Somogyi effect, 174(177)
Cerebral p alsy, 131(134) Diarrhoea, 132(135), 137(139)
Ch estiness, 130(134) bloody, 133(135)
Chloride levels, 95(98) in diabetes, 204(210)
Cholestasis, 214(218) Diazepam
Choriore tinitis, 202(209) febrile convulsions, 106(108)
Chromosomal disorders, 84(88), 85(88) status epilepticus, 70(76)
chromosome 5, 171-2(177) DlC, 123(127)
chromosome 11, 200(209) DIDMOAD, 181(184)
chromosome 14, 200(209) Discitis, 158(167)
chromosome 15, 200(209) Disomy, 182(185)
chromosome 16, 200(209) Dominant inheritan ce
deletion, 182(185) autosomal, 83(HH)
disomy, 182(185) X-linked, 80(82), 83(HH), 84(88), 87(88),
tra nslocations, 80(82), 86(88) 181(184)
trisomies, 20(22), 35-6(37), 80(82), 86(88) Down's syndrome (trisomy 21), 20(22),
Cimetidine, 142(147) 35-6(37), 86(88)
Cleft palate, 57(58), 79(82) hear.ing loss, 57(58), 160(168)
Clotting test, 216(218) jaundice, neonatal, 174(177)
Coarctation, 21 (23) Dubin-Johnson syndrome, 182(184)
Cocliac disease, 129(134) Dwarfism, 176(178)
Conductive deafness, 49(53), 50(53), 57(58),
J73(177), 180(184) Eardrnms, hypcrmobile/thin, 56(58)
Congenital adrenal hyperplasia, 138(139) Ears
Congenital heart disease, 106(108) ap pearance, 145(148), 150(154)
232 Congenital torsion, 157(166) func tion see hearing Joss
ECG,31-47 FEF
age dominance, 41(HH) asthma, 13(17), 14(17), 14(18), 179(184)
axis, 28(30), 38-9(HH) cystic fibrosis, 14(17)
during EEG, 69(HH) Ferritin levels, 118(125)
Fallot's tetralogy, 28(30) FEV1, ll(HH)
ostium primum, 29(30) asthma, 6(9), 7(9), 13(17), 14(17), 16(18),
pulmonary stenosis, 21(22), 33(37) 179(184)
RBBB, 28(30), 29(30), 35-6(37), 40(HH), cystic fibrosis, 6(9), 7(9), 14(17), 15(18),
42(HH) 164(168)
tric:uspid atresia, 33(37) restrictive lung disease, 5(9)
ventricular h ypertroph y, 34(37) Fibroblast cultures, 222-3(229)
Williams' syndrome, 171- 2(177) 5th disease of child hood, 119(126)
Echocardiogram, 20(22), 171- 2(177) Finger anomalies, 150(154)
Ectopic beats, 45(47) FISH assay, 44(47), 79(82), 171- 2(177)
Eczema, 117(125) Fluid managem ent
Edwards' syndrome, 150(154), 198(209) bolus, 101(103), 111(113)
EEG gradual decrease, 175(178)
absence epilepsy, 63(66) restriction, 102(103)
basic principles, 68(HH) Folic acid supplementation, 121(126)
complex partial seizures, 65(67) Fontan operation, 33(37), 43(47)
ECG trace, 69(HH) Fragile X syndrome, 86(88)
epi.lepsy, Roland ic, 72-3(76) Full blood count (FBC), 116(125), 117(125),
features, 69(HH) 203(210)
hyperventilation. marker, 69(HH) +culture, 213(218)
infantile spasms, 64(67) + film, 203(210)
Lennox-Gastaut syndrome, 74(76) Functional residual capacity, 12(17)
AHMED HAMMOODI
montage, 68(HH) FVC, 11(HH)
myoclonic epilepsy, 70(76), 75(76) asthma, 6(9), 7(9), 13(17), 14(17), 16(18),
juvenile, 59-60(66) 179(184)
neonatal, 61-2(66) cystic fibrosis, 6(9), 7(9), 14(1 7), 15(18),
photic stimulation marker, 69(HH) 164(168)
time-scale marker, 69(HH) restrictive lung disease, 5(9)
Eisenmenger's syndrome, 35-6(37)
through ASD, 20(22) Galactosaernia, 137(139), 208(211)
through VSD, 194(196) Galactyl-1-phosphate uridyl transfcrase
Electrolytes, 95-104, 151(154) blood test, 137(139)
Electrophoresis, 116(125) Gastroenterology, 129-35
Emergency m edicine, 105-13 Genetics, 77-88
Energy requirements, 152(154) GH see growth ho1mone
Epilepsy Gilbert's disease, 138(139)
absence, 63(66) Glasgow Coma Scale, 111(113), 220-1(229)
complex partial seizures, 65(67) Glaucoma, 143(147)
myockmic, 70(76), 75(76) Glomerulonephritis, 162(168)
juvenile, 59-60(66), 75(76) Glucose, blood, 96(98), 97(98), 101(103),
neonatal, 61- 2(66) 203(210), 220-1(229)
Rolandic, 72-3(76) Glu taric aciduria type H, 222-3(229}
Erythema infectiosum, 119(126) Glycogen stimulation test, 183(185}
Erytherna multiforme, 207(211) Granulomatous d isease, chronic, 173(177)
Erythema nodosum, 132(134) Grasp refl ex, 205(210)
Ewing's sarcoma, 155(166) Growth hormone
Expiratory reserve volu me, 8(10), insensitivity / deficiency, 176(178),
12(17) 191-2(195)
Eye changes/problems, 137(139), supplementation, 183(185)
202(209) Growth retardation, 143(147), 198(209)
congenital rubella, 143(147) h ead, 142(147)
glaucoma, 143(147) Guillain-Barrc syndrome, 158(167)
red reflex, lack of, 216(218) Guthrie test, 150(154)
retinitis pigmentosa, 142(147)
Haematology, 115-27
Factor vm deficiency, 123(127) Haematuria, 189(195)
Fallot's tetralogy, 28(30), 79(82), 165(169), Haemoglobin in malignancy, 117(125)
206(211) Haemolytic uraemic syndrome, 217(218)
Fahrenheit-centigrade conversion, 163(168) Haemophilia, 123(127), 160-1(168)
Febrile convulsions, 106(108) Head growth rate, 142(147) 233
Hearing loss, 145(148) Jaundice, 174(177), 182(184)
bone conduction, 55(HH), 180(184) intermittent, 138(139)
conductive, 49(53), 50(53), 54(HH), neonatal, 118(125), 120(126), 129(134),
57(58), 173(177), 180(184) 203(210)
congenital rubella, 143(147) physiologic vs pathologic, 152(154)
merungitis, 51(53), 173(177) Jejuna! biopsy, 129(134)
sensorineural, 51-2(53) Job's syndrome, 142(147)
Hearing, normal, 54(HH) Joint pain, 187(195), 207(211)
Heart block, complete, 31-2(37) Juvenile myoclonic epilepsy, 59-60(66),
Heart murmurs, 21(23), 27(30), 28(30) 75(76)
ejection systolic, 199(209)
at LSE, 199(209) Kidney disorders see renal disorders
systolic, 171-2(177) Knee pain, 187(195)
Hepatitis, 200(209)
hepatitis B serology, 153(154) Lactate test, 151(154)
Herpes, 207(211) Laron dwarfism, 176(178)
Hirschsprung's disease, 131(134) Laurence-Moon-Biedl syndrome, 142(147)
Hirsutism, 141(147) urns, 40(HH)
Histiocytosis X, 191-2(195) Learning difficulties, 86(88), 137(139)
Homocystinuria, 137(139), 202(209) Left-to-right shunt, 24(HH)
Horseshoe kidney, 85(88), 198(209) Leg pain, 153(154), 193(195)
HSP, 207(211) Lennox-Gastaut syndrome, 74(76)
Hydrops, 120(126) Lens
Hyper-TgE syndrome, 142(147) clouding, 137(139)
Hypercalcaemia, 44(47), 171-2(177) dislocation downwards, 202(209)
Hyperglycosaemia, 144(147) Leukaemia, 160(168)
AHMED HAMMOODI
Hypermob.ile joints, 142(147) Listeria, 226(229)
Hypertension, 21(23), 85(88), 163(168) Liver enlargement, 208(211)
pulmonary, 35-6(37), 206(211) Lorazepam dosage, 222-3(229)
Hyperthyroidism, 182(185) Lumbar puncture, 158(167)
Hyperventilation, 142(147) Lung disease, chronic, 20(22), 150(154),
Hyperventilation EEG marker, 69(HH) 204(210)
Hypoglycaemia, 208(211 ), 222-3(229) Lung function/volume tests, 5-11, ll(HH)
cut-off, 159(168) astluna, 6(9), 7(9), ll(HH), 13(17), 14(17),
resuscitation, 215(218) 16(18), 179(184)
symptoms, 163(168) carbon monoxide poisoning, 12(17)
Hypothyroidism, 191-2(195) cystic fibrosis, 6(9), 7(9), 11 (HH), 15(18),
Hypothyroidism, central, 150(154) 164(168)
Hypotonia, 144(147) obstructive lung disease, 6(9), ll(HH)
Hypoventilation, 15(18) restrictive ltmg disease, 5(9), 6(9),
Hypoxia, 15(18) ll(HH)
Lung volumes, 8(10)
Idiopathic thrombocytopenia purpura
(ITP), 162(168), 215(218) Malignancy, 117(125), 158(167)
Immunization, passive, 122(126), 153(154) see also specific disorders
Imrnunoglobulin levels, 117(125), 173(177) Maple syrup urine syndrome, 143(147)
IgA, 129(134) Marfan's syndrome, 202(209)
IgG, transplacental, 153(154), 156(166) Marrow /William mnemonic, 40(HH)
Tnappropriate ADH, 102(103) McCune-Albright syndrome, 198(209)
Tncontinentia pigmenti, 84(88), 181(184) Mean cell volume, 124(127)
Tnfantile spasms, 64(67) Meconium aspiration, 159(168), 226(229)
Infections, recurrent, 117(125) Membrane rupture, prolonged, 227-8(229)
Inheritance see dominant inheritance; mito- Meningitis
chondrial inheritance; recessive hea ring loss, 51(53), 173(177)
inheritance meningococcal sepsis, 112(113),
Insulin dosage, 174(177), 204(210) 207(211)
Intrapulmonary shunt, 15(18) viral, 158(167)
Intrauterine death, 120(126) Metabolic screens, 151(154)
Intravenous fluids, 102(104) Microcephaly, 217(218)
Intubation, 112(113), 222-3(229) Milk(s)
prolonged, 145(148) analysis, 193(195), 206(210)
Iron deficiency, 118(125), 201(209) as total diet, 118(125), 201 (209)
Irritable bowel syndrome, 132(135) Mitochondrial inheritance, 83(HH), 85(88)
234 ITP, 162(168), 215(218) Moro reflex, 205(210)
Mortality rates, neonatal, J65(J 69) Platelet aggregation, ristocetin-induced,
MRI, 65(67), 117(125), 143(147) 122(127)
Mumps, 51(53), 131(134) Platelet disea~e, 115(125)
Muscle strength, 156(166) Pneumococcus, 175(178)
Muscular dystrophy, 5(9), Jl(HH), 15(18), Pneumonia, 124(127)
193(195) atypical, 213(218) 5'
Myasthenia gravis, 141(147) Polydactyly, 142(147) a.
ID
Myoclonic jer k, 75(76) Polydipsia, 146(148), 175(178) )(
Myositis, viral, 193(195) Polyuria, 146(148), 175(178)

Polyvalvula r disease, 20(22)
Neck nodes, 203(210) Potassium levels, 95(98), 96(98), lOO(HH),
Neck stiffness, 175(178) 101(103), 102(103)
Neonatal myoclonic epilepsy, 61-2(66) Prader- WiJ!i syndrome, 182(185)
Neostigmine, 141(147) Pre-renal failure, 101(103), 163(168)
N ephritic syndrome, 163(168), 190(195) Predictive values, 90(91), 92(HH), 93(94)
NeplU'otic syndrome, 163(168), 189(195) Predniso!one, 189(195)
N eurology, 59-76 Prematurity survival rates, 151(154)
Nitroblu e tetrazolium dye reduction test, PROM, 159(168)
173(177) Pseudo-Barter's syndrome, 95(98)
NSAIDs, 121(126) Pseudocysts, 131(134)
Nystagmus, 202(209) Psych ogenic polydipsia, 146(148),
175(178)
Obesity, 141(147), 142(147) Pubertal staging, 164(168)
Obstructive lung disease, 6(9), ll(HH) Puberty
Oesophageal atresia, 132(135) delayed, 84(88)
Oesophageal pH, 24 h, 130(134) precocious, 138(139), 188(195), 198(209)
Ophthalmologic changes, 137(139) pseudo-precocious, 143(147)
AHMED HAMMOODI
Optic tract lesion , left, 157(167) Pulmonary arte ry b ranch stenosis, 44(47),
Omithine carbam yl transferase deficiency, 46(47), 85(88)
80(82) Pulmonary hypertension, 35-6(37),
Orotic acid levels, 80(82) 206(211)
Osmolality, 96(98), 97(98) Pulmona ry valve ste.nosis, 21 (22), 25(HH),
Osmotic fragility test, 188(195) 198(209), 206(211)
Ostium p rimum, 29(30) ECG, 33(37)
Otitis media, 51- 2(53), 194(196) peripheral, 171- 2(177)
Oxygen dependence, 203(210) in trisomy 18, 20(22)
Oxygen index calculation, 159(168), Purple h eliotrop e rash , 138(139)
224- 5(229) Pyloric stenosis, 109(HH)
Oxygen saturations see saturations Pyrexia, 163(168), 175(178), 207(211)
Pyruvate dehydrogenase deficiency,
P-R complex, short, 42(HH) 208(211)
P-waves, 38(HI-I)
peaked, 33(37) QRS complex, 38(HH), 40(HH)
Pancreatitis, 131(134) QT, prolonged, 215(218)
Paracetamol intoxication, 204(210), 216(218)
Parachute reflex, 164(168), 205(210) R-waves, 42(HH)
Paraldehyde ad ministration, 222-3(229) peaked, 34(37)
Parie tal lobe rad iation, right, 157(167) Rash, 118(125), 121(126)
Parvovirus Bl9, 119(126) non-blanching, 207(211)
Pa tent ductus arteriosus see PDA Raynaud's phenom enon, 15(18)
PDA, 20(22), 26(30), 27(30) RBBB, 40(HH)
PEF complete, 28(30), 40(HH)
asthma, 6(9), 7(9), 13(17), 14(17), 14(18) partial, 29(30), 35-6(37), 40(HH)
cystic fibrosis, 7(9), 15(18), 164(168) Reactive arthropathy, 187(195)
diary, 14(18) Recessive inheritance
restrictive lung disease, 5(9) a utosomal, 77-8(81), 83(HH), 138(139),
Pendred's syndrome, 174(177) 176(178)
Peripheral artery s tenosis, 198(209) X-linked, 79(82), 80(82), 83(HH),
Perthes' disease, 155(166) 173(177)
Petechiae, 143(147), 162(168), 215(218) Red blood cell co unt, 158(167)
PH recording, 24 h, 130(134), 131(134) Red cell fragility tes t, 120(126)
Phenytoin, 106(108) Red reflex, 216(218)
Phosphate levels, 151(154) Reflexes, 164(168), 205(210), 216(218)
Photic stimulation EEG marker, 69(HH) Reflux, 130(134), 131(134), 133(135) 235
Renal disorders Shunting, 24(HH), 25(HI-l), 35-6(37)
nephritic syndrome, 163(168), 190(195) SIDS, 80.(82)
nephrotic syndrome, 163(168), 189(195) Skin fibroblasts, 144(147)
pre-renal failure, 101(103), 163(168) Slapped cheek syndrome, 119(126)
renal sca1~ 85(88) Sleep requirements, 165(169)
ren al stone, 189(195) Slipped femoral epiphysis, 155(166)
tubular acidosis, 173(177) Small bowel meal, 133(135)
Respiratory distress syndrome (DSS), Snoring, 51(53), 57(58)
107(108), 110(113) Sodium levels, 95(98), 96(98), 101(103),
Respiratory medicine, 5-18, 107(108), 102(103)
110(113) deficit calculation, 99-l OO(HH),
Respiratory time, 150(154) 101(103), 102(104)
Restrictive lung disease, 5(9), 6(9), ll(HH) Sodium supplementation, 152(154)
Resuscitation, 215(218) Somogyi effect, 174(177)
Retinitis pigmentosa, 142(147) Specificity, statistical, 89(91), 92(HH)
Rett's syndrome, 142(147) Spherocytosis, 120(126), 121(126), 188(195)
Rhesus incompatibility, 120(126) Splenectomy, 120(126), 121(126), 203(210)
Right 0 mnemonic, 54(HH) Statistics, 89- 94
Right-to-left shunt, 24(HH), 35- 6(37) Status epilepticus, 70(76)
Rinne tests, 55(HH) Stepping reflex, 205(210)
conductive deafness, 50(53), 57(58), Steroids (corticosteroids), 133(135)
180(184) asthma, 7(9), 14(17), 16(18)
Down's syndrome, 57(58) Still's disease, 122(126)
otitis media, 194(196) Subacute sderosing panencephalitis, 71(76)
sensorineuraJ hearing loss, 51-2(53) Surfactant deficiency, 224- 5(229)
Robertsonian translocation, 80(82) Survival rates at 23 weeks, 151(1S4)
AHMED HAMMOODI
Rockerbottom feet, 198(209) SVT, 112(113)
Rola ndic epilepsy, 72- 3(76) Sweat test, 203(210)
Roseola in fantu m, 207(211} Syndromes, 140(HH)
Rubella, congenital, 143(147} see also specific disorders
Systemic juvenile arthritis, 121(126)
Saturations, 24(HH)
aortic coarctation, 21(23) T-waves, 42(HH)
ASD, 19(22) inverted, 46(47)
congenital heart disease, 106(108) upright, 34(37), 46(47)
ltmg disease, chronic, 20(22) Tachycardia, 220- 1(229), 224- 5(229)
PDA, 27(30) Temperature conversion, 163(168)
right ventricular hypertrophy, 21(22) Terminal ileum, 201 (209)
shunting, 24(HH) Tetralogy of Fallot, 28(30), 79(82), 165(169),
TGA, 27(30) 206(2JJ)
VSD,26(30) 1FTs, 216(218)
Scleroderma, 15(18) TGA, 25(HH), 27(30)
Scoliosis, 11(HH) 111alassaemias
Screening programme criteria, 93(94) u-thalassaemia, 117(125), 120(126)
Seizures ~-thalassaemia, 118(125)
atonic, 74(76) ~-thalassaemia trait, 116(125)
chromosome 11 abnormalities, 200(209) Timmb, hypoplasia of, 116(125)
clonic, 61- 2(66) Thymectomy, 141(147)
complex partial, 65(67), 70(76) Tidal volume, 12(17)
febrile convul<iions, 106(108) Torsion, congenital, 157(166)
glutaric aciduria type n, 222-3(229) Transposition, 34(37)
myoclonic, 61- 2(66), 74(76) Tricuspid atresia, 33(37), 43(47)
tonic, 74(76) Trisomies
tonic- donic, 59- 60(66), 72- 3(76) trisomy 13, 20(22)
see also epilepsy trisomy 18, 20(22)
Sensitivity, statistical, 89(91), 92(HH) trisomy 21 see Down's syndrome
Sensorineural hea ring loss, 51-2(53) Tumours see malignancy
Sepsis, 123(127), 208(211), 220- 1(229) Turner's syndrome, 84(88), 181(184),
electrolytes, JOJ (103) 198(209), 217(218)
screening, J59(168) male, 198(209)
Septa! defects, 20(22) Tympanograms, 52(53), 56(58)
see also ASD; VSD
Septicaemia see sepsis U&Es + chloride, 203(210)
236 Sh igella, 220-1(229) IBcerative col itis, 133(135)
Umbilical artery catheterization, 102(104), Warming child, 111(113)
224- 5(229) Warts, lines of, 84(88) ':
Urea cycle disorder, 208(211) Weber tests, 55(HH)
Urea levels, 96(98), 101(103) conductive deafness, 50(53), 180(184)
Urinary frequency, 163(168) Down's syndrome, 57(58)
Urticaria, 207(211) otitis media, 194(196)
sensorineural hearing loss, 51-2(53)
Vasopressin, 191- 2(195) Weight
Vegan diet, 201(209) expected, 105(108)
Ventilation, neonatal, 107(108), 149-50(154) gain, 133(135), 150(154), 200(209)
Ventricular fibrillation, 111(113) loss, 132(134), 146(148), 208(211)
Ventricular hypertrophy West's syndrome, 64(67), 74(76)
left, 41(HH), 42(HH) White blood cell count, 158(167), 159(168),
right, 21(22), 28(30), 34(37), 40(HH), 214(218)
41(HH) Whooping cough, 122(126)
Visual fields/pathways, 157(167) Williams' syndrome, 44(47), 145(148),
Visual problems see eye problems 171-2(177), 198(209)
Vital capacity, 8(10), 12(17) Wiscott-Aldrich syndrome, 117(125)
Vitamin B12 deficiency, 201(209)
Vitamin D deficiency, 201(209) X-linked dominant inheritance, 80(82),
Vitamin K, 151(154) 83(HI-I), 84(88), 87(88), 181 (184)
administration, 152(154) X-linked recessive inheritance, 79(82),
deficiency, 201(209) 80(82), 83(1-IH), 173(177)
Vomiting, 133(135), 137(139), 208(211)
in diabetes, 204(210) Zinc protoporphyrin levels, 118(125)
forceful, 203(210)
Von Willebrand's disease, 115(125), 122(127)
AHMED HAMMOODI
VSD, 25(HH), 26(30), 29(30), 194(196)
in trisomies, 20(22)
237
AHMED HAMMOODI
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250 Questions For The MRCPCH Part 2

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250 Questions For The MRCPCH Part 2

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AHMED HAMMOODI

Comrnissioning Editor: Ellen Green

J L Robertson MB chB MRcPcH

AP Hughes MB chB FRcPcH

©Elsevier Limited 2001

No part of this publication may be reproduced, stored in a retrieval system, or transmitted

First edition 2001

Second edition 2006

British Library Cataloguing in Publication Data

Library of Congress Cataloging in Publication Data

Working together to grow The

18. Themed questions

20. Practice exam long questions

Answering any exam question is a mixture of knowledge and technique. In

4. lf not, think again - it may be that the answer is wrong; or

5. It may be that certain things underlined are not relevant.

1. A 10-day-old female infant presents to you with vomiting and

Sodium 118 mmol/L

(a) What is the cause of this child's presenting illness?

(b) What is the underlying diagnosis?

This book is designed to explain how to answer the questions, as opposed to

(a) What type of picture do these results demonstrate?

(b) Give the most likely underlying diagnosis:

(a) What type of picture do these results demonstrate?

FVC (lit res) 3.97 3.02

Suggest two possible explanations.

Predicted Measured 1 month later

FVC 3.91 3.68

She is on moderate doses of inhaled steroids. Give two possible

(a) What do the letters A and B represent?

1.1 (a) (i)

1.2 (a) (iv)

1.3 Poor compliance, smoking or a worsening of her asthma.

1.5 Add an inhaled long-acting beta-agonist, increase the inhaled steroids,

Comment: Remember that one division is always a volume and more

1. FVC + FEVJ: if both are low this suggests a restrictive picture.

2. FVC near normal with low FEV1 suggests an obstructive picture.

3. FVC low, but FEV1 a lot lower suggests a mixed picture.

5. The most common restrictive pattern in children is muscular dystrophy

6. The most common obstructive pattern is asthma.

7. CF may be shown as a purely restrictive set of results but is often mixed.

1.7 Draw a diagram of lung volumes showing the following:

B = Fnnctional residual capacity

D = Expiratory reserve volume

(a) What is the diagnosis?

(b) What has the conncil done?

(a) What is the diagnosis?

(b) Which of the above measurements is best for monitoring his

FVC 3.97 4.51 114

FVC 83% predicted

(a) What test would you do next?

(b) What treatment would you try?

Which of the above best explain the mechanism of hypoxia below?

(a) You are reviewing a 12-year-old boy in out-patients who you

1.14 A seven-year-old is coming up for his three-monthly review. He was

FVC FEV1 PEF

Predicted 2.0 1.9 280

Predicted 4.00 3.70

Comment: .R emember one space is a volume.

(b) Changed the gas heating.

1.9 (a) (i)

1.11 (a) Bronchodilator response.

(b) Bronchodilators/ inhaled steroids/oral steroids.