Short and OSCE Cases in

Internal Medicine
Clinical Exams
for PACES, MRCPI, Arab Board and
Similar Exams

Second Edition
 Short and OSCE Cases in
Internal Medicine
Clinical Exams
for PACES, MRCPI, Arab Board and
Similar Exams

Second Edition

Wanis H Ibrahim MB ChB FRCP (Edin) FRCP (Glasg) FRCPI FCCP F (Pulm)
Senior Consultant Physician, Department of Medicine,
Hamad General Hospital, Doha, Qatar
Professor of Clinical Medicine, College of Medicine,
Qatar University and Weill-Cornell Medicine, Qatar
Core Faculty, Residency Training Program, Department of Medicine,
Hamad General Hospital, Doha, Qatar
Certified International Clinical Examiner for
Various National and International Clinical Examinations
Winner of 17 “Best Teacher” Awards

Foreword
Rayaz A Malik

London • New Delhi

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 Foreword

“Forewarned, forearmed; to be prepared is half the victory”

—Miguel de Cervantes

Medicine is both an art and a science. Scientific knowledge creates the foundation and the art of
deduction and application enables the discerning clinician to arrive at the correct diagnosis and
therefore appropriate management.
Nowhere is the practice of medicine challenged as acutely as it is in the postgraduate
examinations in internal medicine. The candidate is expected to undertake a thorough and
systematic physical examination, identify the pertinent physical signs, create a sensible
differential diagnosis, apply clinical knowledge, and present their findings in a clear, structured,
and professional manner. However, when the pass rate is below 50% for the PACES examination,
preparation is the key. In the words of my old mentor Professor JD Ward (ex-vice president of the
Royal College of Physicians), ‘preparation and daily practice is key to success in the MRCP’.
I believe Professor Wanis H Ibrahim has created a comprehensive book from the “examiner’s
perspective” and incorporated a unique conversational style, which recreates the conditions
encountered in the examination. The material covered is comprehensive and up-to-date
and builds on a wealth of experience, which guides you through what to expect during the
examination and how to examine proficiently and present your findings professionally and
competently.

Rayaz A Malik
Professor of Medicine and Consultant Endocrinologist,
Weill Cornell Medicine-Qatar, Doha/Qatar
Central Manchester Teaching Hospitals, University of Manchester, UK

v
 Preface to the 2nd edition

I am glad that the 1st edition of this book was very well-received and was a resounding success.
The book has gained wide popularity among international candidates (particularly those
preparing for their MRCP, PACES, MRCPI, and Arab Board clinical examinations) over less than
four years from its publication. Feedback from internal medicine residents and medical students
indicated that the book was extremely helpful during their preparation for clinical examinations.
I was pleasantly surprised and extremely delighted to receive positive feedback not only from
candidates but also from experienced clinician colleagues and seasoned examiners. I am ever
grateful for their comments and suggestions for improvement in future editions of this book. The
main driver of the book was a desire to provide a resource to busy clinicians during their clinical
examination preparation, which is both concise and easy to assimilate but, at the same time,
comprehensive and does not omit any vital component of the examination. A consistent theme
from the positive feedback is the book’s unique conversational style and the precise and concise
information it delivers to the readers. Although this was the intention of starting this project in the
first place, this positive feedback exceeded my expectations and encouraged me to improve even
further the utility of the book by bringing this 2nd edition. As teaching has always been a passion
for me, I always looked at how medical education can be made easy and more straightforward for
a busy clinician. While acting as an examiner for many years, I realised the particular areas in which
candidates struggle during examinations. This book is an effort to help candidates overcome these
difficulties.
This 2nd edition keeps the same basic theme of conversational style of the book (an examiner
asks a question and a candidate provides the typical answer), which recreates the conditions
encountered in the real clinical examinations. However, various additions have been made based
on feedback from students, residents, seasoned clinicians, and examiner colleagues.
The approach to each case in the book has been standardised into a unified format that
includes the common instructions by examiners encountered in clinical examinations, the
common mistakes (pitfalls) committed by candidates, and the typical style of presentation of
findings. This is followed by a succinct summary of diagnosis, differential diagnosis, management,
and further information usually required in clinical examinations. Throughout the book, particular
emphasis has been placed on a highly professional approach to the case, a competent and
relevant examination technique, and a concise professional presentation. This is followed by the
questions that are commonly asked by the examiners on each case along with their standard
answers, encompassing all aspects of the case. A paragraph containing the essential rules/clues
for each case has been added and updated to help candidates understand common practical facts
about that case.
The list of cases has been expanded to include cases recently encountered by candidates in
international clinical examinations.
The list of questions (number and type of questions asked by examiners) on each case, as well
as typical answers expected by examiners, have been expanded and updated as well.
All the sections have been thoroughly reviewed and updated based on new information and
advancements in the medical field since the publication of the 1st edition.
A ‘how to examine’ paragraph precedes each case in this book, which emphasises and explains
the most competent and professional manner of examination for that case.

vii
 The section on ‘examiner instructions’ that guides the candidate through the most common
instructions encountered for each case has been updated to include commonly encountered
instructions in clinical examinations. This helps to take away the element of surprise and alleviate
the candidate’s anxiety during the stressful examination. The candidates can also use these
instructions during their mock examination drills before the examination.
A section on ‘the typical presentation of the findings’ expected from candidates for each case
has also been added and again can be thoroughly practised by the candidates during their mock
examination drills before the examination.
To improve the candidate’s visual learning experience, and supplements the other aspects of
the book, the number of photos and illustrations has been expanded in this edition to include
about 150 photographs.
Finally, many candidates continue to enquire about the best way to prepare for clinical
examinations. In the 2nd edition, a section entitled ‘how to prepare for and pass your clinical
examinations’ has been added to explain important practical tips that help candidates to plan and
prepare for their clinical examinations.
I sincerely hope that this book will continue to remain a great resource for all the future
candidates going through their undergraduate and postgraduate clinical examinations. I will
continue to look forward to any suggestions or comments from all the candidates, fellow
examiners, and colleagues for any future improvements.
This book could not have been possible without continued support from my loving family.
I also would like to express my sincere gratitude to all candidates and colleagues for their
invaluable and encouraging comments and suggestions during the writing of this book.
To all the future candidates, I wish you a happy and enjoyable learning and the best of luck in
your examinations.

Wanis H Ibrahim

viii
 Preface to the 1st edition

Clinical examinations are considered in many countries as an integral part of the assessment
of a doctor’s clinical competence. To candidates, they represent a major hurdle during their
training. There are significant anxiety and stress associated with the preparation of these
examinations that peak on the day of the examination. Internationally, there is a significant
variation in the way these examinations are conducted. Two types of postgraduate clinical short
case examinations are currently conducted at national and international levels. In the traditional
unstandardised examination, a candidate is typically assessed by two examiners on all short
cases. The more standardised and structured form of examination requires two examiners (who
mark independently) at each station. The former examinations have a considerable number
of disadvantages including inconsistency in marking and judgement between examiners
(hawk versus dove), gender, personality, and ethnic biases. Furthermore, many national and
some international boards appoint clinical examiners without prior training, which results in
further variability and inconsistency in marking. Despite being considered as more objective
and fair, the recent standardised types of clinical examinations have the disadvantages of cost
and preparation. Nevertheless, the key factor for passing clinical examinations remains the
candidate’s preparation. Going for a clinical examination is like going to a battle. Irrespective
of clinical experience, preparation and practice are the keys to passing clinical examinations.
You can hear about cardiology fellows who fail cardiac cases, gastroenterology fellows who fail
abdominal cases, or neurology fellows who fail neurology cases in clinical examinations because
they have not prepared well. Preparation for such examinations requires, in addition to the
attainment of broad medical knowledge, acquisition of the required clinical skills of physical
examination and mastering the art and discipline of presenting findings and case discussion in
a clear systematic manner. Several crucial steps can help candidates to prepare for their short/
OSCE cases. While many candidates feel confident in their clinical skills and techniques, the stress
in the ‘real examination’ will expose significant skill and knowledge gaps. It is essential, therefore,
that a day-by-day short case practice should become second nature to all candidates preparing
for their clinical examinations. The best way of attaining this is by frequent bedside assessment
and teaching of a motivated group of candidates by a registrar or a consultant (preferably who
has been through the examination hurdle). Examination-oriented consultant supervision and
comments during the ward round and mock examinations are also helpful. Revision courses may
help to familiarise candidates with the common examination cases and examination methods, but
alone are never sufficient to pass clinical examinations. Parallel to mastering proper examination
skills is a good grasp of medical knowledge related to the common examination cases. Reading
medical textbooks without considering commonly encountered cases in clinical examinations
is virtually guaranteed with failure. The examiners are assessing knowledge and clinical acumen
and the latter cannot be derived from the textbooks. Candidates should also focus on reading
books that are dedicated to helping candidates to pass their clinical examinations. These books
familiarise candidates with the most common cases encountered in examinations. Nevertheless,
many candidates believe that currently there are not enough books that meet this purpose. Hence,
many of these books are becoming large medical textbooks that are detailed and extremely
wordy, but lack focus and include detailed theoretical information that is useful in written rather
than clinical examinations. The examiners are looking for common sense clinical answers, not the
latest theories on the molecular basis of disease. As an international clinical examiner,

ix
 a primary organiser, and host examiner for different clinical board examinations, I endorse the
view that candidates need concise information to help them systematically examine cases, quickly
identify the abnormality, and derive the correct diagnosis. In this book, I have put a tremendous
effort into including all possible questions that my examiner colleagues have asked or may ask
in the clinical examinations. To provide the candidate with a model answer, I have provided a
typical conversation between an examiner and a candidate where the examiner asks and the
candidate provides the expected answer. This may also put the reader of this book in a more
interactive atmosphere rather than reading a large text with the bottom line information lost in
the details. Furthermore, being a previous candidate for undergraduate and postgraduate clinical
examinations, I realise how a candidate’s working memory is negatively affected by examination-
provoked stress. Candidates, for example, can easily forget a simple list of causes of a disease
as a result of such stress. Considering this, I have included some mnemonics in various pages
to help recall some long lists. Each case or system in this book is preceded by ‘how to examine’
to help candidates focus on important physical signs related to that case. Common mistakes or
pitfalls committed by candidates and various examiner instructions that have been observed in
real examinations are also clearly addressed at the beginning of each case. Particular attention
has been paid to the up-to-date management of each case, which is a mandatory question in
clinical examinations. Finally, I have gathered all my experience as a clinical examiner, organiser,
and educator in this book to help postgraduate doctors feel confident when proceeding to their
clinical examinations.
This book is intended for candidates preparing for all postgraduate clinical examinations
using the short case/OSCE format such as MRCP (UK and Ireland), PACES, Arab Board, Arabian
Gulf Boards, FCPS (Pakistan), MD (India), FARCP (Australia), and other national board clinical
examinations. Medical students will also find this book useful.
Good Luck!
Wanis H Ibrahim

x
 Dedication

My mother, Mubaraka Al-Darrat, for her sacrifice and constant support throughout my life.

Wanis H Ibrahim

Important note

This book is intended to provide postgraduate medical doctors and medical students with the
necessary information to pass their clinical examinations. The author of this book has made
every effort and care to ensure the information provided in this book is accurate. However,
since medical knowledge is constantly changing, neither the author nor the publisher can
assume any responsibility for any consequences arising from the use of the information
contained in this book.

xi
 Acknowledgements

I am indebted to the following colleagues from Hamad Medical Corporation for their great
assistance and providing some photographic materials included in this book—Dr Amjad
Mahboob, Dr Gowri Karuppasamy, and Dr Elrazi Awadelkarim from Internal Medicine Section;
Dr Liaquat Ali, Dr Dirik Deleu, Dr Mohammed Alhatou, Dr Ahmad Shihab, Dr Suha Makki,
Dr Naveed Akhtar, Dr Faisal Ibrahim, and Dr Yasser Osman from Neurology Section; Dr Abdul-
Wahab Al-Allaf, Dr Fiaz Alam, Dr Samar Al-Emadi, Dr Izzat Khanjar, Dr Abdul-Razzakh Poil,
Dr Salah Mahdi, and Dr Mohammed Hamoudeh from Rheumatology Section; Dr Hamda Ali
and Dr Mohsen Elidrisi from the Endocrinology Section; Dr Farouq Hamed, Dr Hawraa Omran,
Dr Hisham Elsabah, Dr Kakil Rasul, and Dr Mufid Elmistiri from Oncology Section; Dr Maha
Elshafei, Dr Mohammed Mousa, and Dr Fatima Almansouri from Ophthalmology Section;
Dr Farook Ahmed from Nephrology Section; and Ms Mary Anne Tourette from the Department
of Medicine. Special thanks go to Professor Rayaz Malik, Dr Mushtaq Ahmed, Dr Tasleem Raza,
Dr Salah Elbadri, Dr Ahmed Al-Mohammed, and Dr Dhabia Al-Mohanadi and my brother
Dr Gamal Ibrahim for their invaluable suggestions and continuous support during the
preparation of this book.

xii
 Contents

Foreword v
Preface to the 2nd edition vii
Preface to the 1st edition ix
Dedication xi
Important note xi
Acknowledgements xii
List of abbreviations xiv

Part 1 Advice on how to prepare for and pass clinical

examinations 1

Part 2 Cardiovascular cases 7

Part 3 Respiratory cases 53

Part 4 Abdominal cases 87

Part 5 Neurology cases 133

Part 6 Endocrine, rheumatology, connective tissue,

and skin cases 197

Part 7 Eye and fundus cases 257

Index 275

xiii
 List of abbreviations

6MWT: Six-minute walking test CAT: COPD assessment test

ABG: Arterial blood gas CBC: Complete blood count
ACCP: Anti-citrullinated protein antibody CBD: Common bile duct
ACE: Angiotensin-converting enzyme CF: Cystic fibrosis
ACTH: Adrenocorticotropic hormone CFTR: Transmembrane conductance
AD: Autosomal dominant regulator gene
AF: Atrial fibrillation CHF: Congestive heart failure
AFB: Acid-fast bacilli CIDP: Chronic inflammatory
AIDS: Acquired immunodeficiency polyneuropathy
syndrome CLD: Chronic liver disease
ALK: Anaplastic lymphoma kinase CML: Chronic myeloid leukaemia
ALP: Alkaline phosphatase CMT: Charcot-Marie-Tooth
ALT: Alanine aminotransferase CMV: Cytomegalovirus
AMA: Anti-mitochondrial antibodies CNS: Central nervous system
ANA: Anti-nuclear antibodies COPD: Chronic obstructive pulmonary
ANCA: Anti-neutrophil cytoplasmic disease
antibody CPK: Creatine phosphokinase
anti-dsDNA: Anti-double stranded DNA CRA: Central retinal artery
antibody CRP: C-reactive protein
anti-VEGF: Anti-vascular endothelial growth CRT: Cardiac resynchronisation
factor therapy
APKD: Adult polycystic kidney disease CRVO: Central retinal vein occlusion
AR: Aortic regurgitation CSF: Cerebrospinal fluid
AR: Autosomal recessive CT scan: Computed tomography scan
ARB: Angiotensin II Receptor Blocker CTEPH: Chronic thromboembolic
ARNI: Angiotensin receptor neprilysin pulmonary hypertension
inhibitor CTPA: Computed tomography
ARP: Argyll Robertson pupils pulmonary angiography
AS: Aortic stenosis DIC: Disseminated intravascular
ASD: Atrial septal defect coagulation
ASMA: Anti-smooth muscle antibody DIP: Distal interphalangeal joint
AST: Aspartate aminotransferase DLCO: Diffusing capacity for carbon
AVM: Arteriovenous malformations monoxide
BAL: Bronchoalveolar lavage DNAR: Do not attempt resuscitation
BIPAP: Bi-level positive airway pressure DVT: Deep vein thrombosis
BNP: B-type natriuretic peptide (brain EBV: Epstein–Barr virus
natriuretic peptide) ECG: Electrocardiogram
BP: Blood pressure EDS: Ehlers–Danlos syndrome
CABG: Coronary artery bypass graft EGFR: Epidermal growth factor receptor
CAD: Coronary artery disease EMG: Electromyography

xiv
ENA: Extractable nuclear antigen HHT: Hereditary haemorrhagic
antibodies telangiectasia
ERCP: Endoscopic retrograde HIV: Human immunodeficiency virus
cholangiopancreatography HPOA: Hypertrophic pulmonary
ESR: Erythrocyte sedimentation rate osteoarthropathy
ESRD: End-stage renal disease HRCT: High-resolution CT scan
ET: Essential thrombocythemia HSP: Henoch–Schönlein purpura
FeNO: Fractional exhaled nitric oxide HTN: Hypertension
FEV1: Forced expiratory volume in the HVPG: Hepatic venous pressure gradient
first second ICD: Implantable cardioverter
FSGS: Focal segmental defibrillators
glomerulosclerosis ICS: Inhaled corticosteroid
FSH: Facioscapulohumeral muscular IE: Infective endocarditis
dystrophy IGF-I: Insulin-like growth factor 1
FSH: Follicle-stimulating hormone ILD: Interstitial lung disease
FTA-ABS: Fluorescent treponemal antibody INO: Internuclear ophthalmoplaegia
absorption test INR: International normalised ratio
FVC: Forced vital capacity IPF: Idiopathic pulmonary fibrosis
G6PD: Glucose-6-phosphate JAK2: Janus kinase 2
dehydrogenase JVP: Jugular venous pressure
GBS: Guillain–Barré syndrome LABA: Long-acting beta-agonists
GD: Gaucher’s disease LAMA: Long-acting muscarinic
GERD: Gastroesophageal reflux disease antagonist
GFR: Glomerular filtration rate LBBB: Left bundle branch block
GH: Growth hormone LDH: Lactate dehydrogenase
GHRH: Growth hormone-releasing LGMD: Limb-girdle muscular dystrophy
hormone LH: Luteinising hormone
GOLD: Global initiative for chronic LKM: Liver kidney microsomal antibody
obstructive lung disease LMN: Lower motor neuron
HACEK: Haemophilus parainfluenzae LTOT: Long-term oxygen therapy
and aphrophilus, Actinobacillus, LVAD: Left ventricular assist device
Cardiobacterium, Eikenella and LVEF: Left ventricular ejection fraction
Kingella LVESD: Left ventricular end-systolic
HBA1C: Glycosylated haemoglobin dimension
HBV: Hepatitis B virus MCP: Metacarpophalangeal joint
HCM: Hypertrophic cardiomyopathy MCT: Methacholine challenge test
HCV: Hepatitis C virus MD: Myotonic dystrophy
HD: Huntington’s disease MELD: Model for end-stage liver disease
HFpEF: Heart failure with a preserved MIE: Meconium ileus equivalent
ejection fraction MLF: Medial longitudinal fasciculus
HfrEF: Heart failure with a reduced MND: Motor neuron disease
ejection fraction MR: Mitral regurgitation

xv
 MRA: Magnetic resonance angiography/ QP/QS: Pulmonary blood flow/ systemic
mineralocorticoid receptor blood flow
antagonist RA: Rheumatoid arthritis
MRCP: Magnetic resonance RF: Rheumatoid factor
cholangiopancreatography RFT: Renal function test
MRI: Magnetic resonance imaging RHD: Rheumatic heart disease
MS: Mitral stenosis/multiple sclerosis RP: Retinitis pigmentosa
NAFLD: Non-alcoholic fatty liver S1: First heart sound
NEP: Neprilysin inhibitor SAAG: Serum-ascites albumin gradient
NMO: Neuromyelitis optica SAM: Systolic anterior motion
NPDR: Non-proliferative diabetic movement
retinopathy SBP: Spontaneous bacterial peritonitis
NSAID: Non-steroidal anti-inflammatory SLE: Systemic lupus erythematosus
drugs SPECT: Single-photon emission computed
NT-proBNP: N-terminal (NT)-pro hormone tomography
BNP SVC: Superior vena cava
NYHA: New York Heart Association TAVR: Transcatheter aortic valve
OGD: Oesophagogastroduodenoscopy replacement
PAP: Pulmonary artery pressure TB: Tuberculosis
PBC: Primary biliary cirrhosis TEE: Transesophageal
PD: Peritoneal dialysis echocardiography
PDR: Proliferative diabetic retinopathy TFT: Thyroid function test
PEF: Peak expiratory flow TIPS: Transjugular intrahepatic
PEG: Percutaneous endoscopic portosystemic shunt
gastrostomy TTE: Transthoracic echocardiography
PET scan: Positron emission tomography UIP: Usual interstitial pneumonia
scan UTI: Urinary tract infection
PHT: Pulmonary hypertension VAT: Video-assisted thoracoscopy
PMF: Primary myelofibrosis VDRL: Venereal disease research
PTH: Parathyroid hormone laboratory test
PV: Polycythemia vera VSD: Ventricular septal defect

xvi
 Part 1
Advice on how to prepare
for and pass clinical
examinations

How to prepare for and pass your clinical examinations?

(The ten golden rules)
An unsuccessful attempt at a clinical examination is a very disappointing experience for
many candidates. Regardless of the common rumours for the reasons of failure, there
is no doubt that the key factor for success in any clinical examination is the candidate’s
preparation for that examination. Many candidates lack insight on how to prepare
for the examination, thinking that exposure to daily admitted cases combined with
attending a clinical course is sufficient to pass clinical examinations. Excessive anxiety
can also contribute to memory and concentration shortage during the examination.
Nevertheless, excessive anxiety is usually a result of inadequate preparation and lack of
confidence among candidates in their clinical skills and medical knowledge. With the
introduction of the modern clinical examination structures such as the PACES and OSCE
types, reasons such as inexperienced examiners, zebra questions, or odd examination
cases are becoming rare. As mentioned earlier, going for a clinical examination is like
going to a battle. You should know what weapons you possess and what weapons the
battle requires. To pass your clinical examination, you have to master a professional and
a competent examination technique, present your findings concisely and impressively,
and show the examiner that you can efficiently manage the case and answer most
of the questions related to the patient’s illness. I frequently receive comments from
subspeciality fellows criticising certain clinical examinations and describing them as
unfair because they fail a simple case related to their subspeciality, which they see and
manage almost every day during their hospital practice. Candidates must know that
success in clinical examinations requires a special preparation even if you are an expert
in your clinical speciality. Daily ward rounds, admissions, and post-intake rounds can
help to build clinical experience but are never enough to successfully pass clinical
examinations. Because of their busy duty, some candidates keep the preparation for their
clinical examinations to the few weeks before the examination hoping to attend one or
more courses shortly before the examination. This is again unlikely to result in success.
Many candidates often ask for practical tips to prepare for their clinical examinations.
The following practical tips are based on an extensive experience as an examiner,
and feedback from many candidates who were interviewed after they passed their
examinations as well as on some evidence from the literature.
2 Part 1 Advice on how to prepare for and pass clinical examinations

1. Plan and start your preparation enough time ahead of the

examination:
• Do not leave preparation for the clinical examinations until the last few weeks
before the examination.
• There is evidence that supports the idea ‘the earlier the preparation for the
examination starts, the more chances for the candidate to pass’.
• Examiners can easily distinguish between candidates who have been preparing for
their clinical examinations for many months and those who have just started a few
weeks before.
• Candidates without enough preparation usually appear anxious, irritable, hesitant,
and unconfident.
• Preparation for clinical examinations should start as soon as the candidate passes
the written examination.
• Although there are exceptions, candidates usually require 6–12 months of active
preparation for clinical examinations.

2. Familiarise yourself with the examination:

• Candidates should make themselves familiar with the structure and the format of
the clinical examinations they are sitting in.
• They should be aware of the different station layouts, timings, marking schemes,
pass marks, and the examination requirements.
• Most of the examination councils and colleges provide an examination syllabus,
which can be used by candidates to guide them through the examination format.

3. Allocate 2 hours every day for clinical examination preparation:

• Make it a habit to look for and list the common examination cases that are
admitted to your hospital on daily basis to examine them after finishing your
duties.
• Allocate at least 2 hours every day to perform a supervised clinical examination,
practise presentation and management discussion in front of your study group or a
clinical supervisor, and ask for a constructive feedback.
• The time can be increased when examination approaches.

4. Create or join a motivated study group:

• Some studies have shown that creating a small and motivated study group to
prepare for clinical examinations is more beneficial than individual training.
• It allows the sharing of the clinical examination skills, reinforcing the knowledge,
and gaining proficiency in the sequence of steps.
• Members of the group may recreate the examination situation by examining
each other on different patients. The role of a candidate and examiner can
be practised and alternated. It is useful to use a timer when they practise and
provide comments on the technique of examination, time management, and the
discussion on the case.
• Provide specific positive and negative feedback. In cases of dispute, obtaining a
senior colleague’s opinion is a useful way to sort that out.
• To simulate the examination situation, members of the group can prepare written
instructions, some questions to be asked as well as the typical answers for such
questions.
 How to prepare for and pass your clinical examinations? (The ten golden rules) 3

5. Use a registrar or a consultant who went through the hurdle of the

examination:
• It is a good idea to approach a senior colleague such as your registrar or consultant
who has been through the hurdle of the examination to observe you doing
a clinical examination of one of the body systems. Ask for feedback on your
examination technique, presentation skills, and case management.

6. Observe others practicing and adapt the best examination

technique:
• In addition to practicing yourself, one of the most powerful learning methods is
to observe other candidates examining patients, presenting their findings, and
discussing the case with the supervisor. This is an excellent opportunity to evaluate
your techniques, compare them with others, and adapt the best. It will refine your
perception about which of your skills are deficient and you need to learn and
which skills you need to execute.
• Different studies have shown that the opportunity to observe a peer during
practice improves the acquisition of physical examination skills.
• Nevertheless, this observation should be combined with practice. Do not feel shy
to practise even if you do not feel confident in your skills. A combination of practice
and observation is a very useful way to guarantee success in clinical examinations.

7. Attend regular bedside clinical teaching sessions:

• Many teaching hospitals arrange clinical teaching sessions for candidates
preparing for their clinical examinations. These sessions are very useful.
• Candidates must get actively involved in these sessions through active participation
in combination with careful observation of other colleagues while practicing.
• Do not be afraid to volunteer to examine patients in front of other peers or a senior
supervisor. Remember that this is the time to make mistakes and learn from these
mistakes. You will not repeat such mistakes in the real examination.
• Candidates who actively participate in these sessions by volunteering to examine
patients and presenting to the instructor are usually those who often pass the real
clinical examinations.

8. Attend clinical courses and mock clinical examinations:

• Clinical courses can help candidates to gain exposure to a variety of cases,
especially conditions that are uncommon in daily practice. However, clinical
courses alone are not enough for success in clinical examinations.
• To gain maximum benefit from clinical courses, you should be prepared with the
examination routines. You may then treat the course as a mock examination.
• Take the supervisor’s feedback on your techniques positively and work to improve
your weaknesses.
• Some candidates find online videos for examination skills to be a good revision aid.

9. Select the reading material for your clinical examinations:

• Selecting the correct reading material is very important.
• Reading large medical textbooks without considering commonly encountered
cases in clinical examinations is virtually guaranteed with failure. The examiners
4 Part 1 Advice on how to prepare for and pass clinical examinations

are assessing knowledge and clinical acumen and the latter cannot be derived
from the textbooks.
• Furthermore, large medical textbooks contain plenty of theoretical information
that is not required for success in clinical examinations and reading such textbooks
is time-consuming.
• Focus on reading books that are specifically designed for candidates who are
preparing for clinical examinations.
• Use mnemonics to memorise long lists of causes or differentials. This can be very
helpful considering the time constraints during the clinical examinations.

10. Practise and practise until it becomes second nature (practice

makes perfect):
• Practise physical examination until you master the best technique in the allocated
time.
• Practise presenting the clinical findings clearly and fluently to your colleagues.
• Repeated practice will make you gain confidence in your approach, minimise
hesitation concerning the examination routine, and improve your ability to spot
clinical signs.

On the days before, and the day of the examination:

• Sleep well the nights before the examination. You may be juggling examination
revision with daily duties at your job. Being tired or sleep-deprived would affect your
preparation as well as your alertness on the day of the examination.
• Clinical examinations can be a nerve-wracking experience. To tackle stress, imagine
that it is a regular day on the wards with challenging cases. Try to keep calm to think
clearly and communicate with patients in an empathetic manner.
• Avoid taking excessive caffeine, as it may worsen anxiety and cause palpitations or
headaches on the examination day.
• Avoid alcohol, as it may affect your energy and concentration.
• Use the break time between stations to relax and concentrate on the next station and
not to reflect on your previous cases.
• Gather your thoughts throughout your examination routine, even before your
presentation, as this will help you look for associated signs of aetiologies or
complications of the condition.
• It is important to be presentable on the day of the examination. Avoid using excessive
perfumes or cologne. Dress appropriately and conservatively. Arrive enough
time before the examination starts. Familiarise yourself with the infection control
policy of the hospital or the country in which the examination is being conducted.
Some hospitals may have a ‘bare below elbow’ policy. Make sure you bring your
identity documents with you such as your passport. Some examination centres may
provide examination instruments while others may not. It is useful for candidates
to check which instruments will be provided at the examination centre. If in doubt,
it is advisable to bring your instruments. Important instruments include a good
quality stethoscope, a tendon hammer (preferably the Queen Square type), an
ophthalmoscope, an orange stick, few cotton balls, a tongue depressor, and a Snellen
chart. A pin with a white head and another one with a red-head may be used when
examining the visual field.
 How to prepare for and pass your clinical examinations? (The ten golden rules) 5

What if the attempt was not successful?

Sometimes, despite the best efforts, things may not happen as planned which can be very
disappointing. Many candidates, if they do not succeed, become caught in a downward
spiral and think will never pass the examinations. Candidates should keep in mind that
many successful physicians who are pioneers in their field of speciality, and perhaps the
examiners as well, have taken their examinations more than once before they succeeded.
Keep away the negative thinking and feelings of self-pity. Use the experience as a lesson
for more learning and consider that your success needs little more time rather than to
focus on the failure. Reflect upon the entire process and identify things that went well
as well as those you could improve. Once you have done this, consider how you would
improve your performance the next time and put this plan into action immediately. Seek
the help of your seniors and colleagues to figure out what you can do differently when you
retake the examination.

How to present your findings to the examiners?

In addition to the proper technique of physical examination and identification of the
correct findings, the way that candidates present their findings to the examiners will
affect the overall examiner’s impression about the candidate performance and the
final short case mark. Many candidates of a high standard can fail the examinations
simply because they cannot convey the correct findings and diagnosis to the examiners.
Presenting your ideas to listeners is an art in itself and, therefore, candidates should
practise repeatedly presenting their clinical findings to their peers or senior colleagues.
The common two scenarios after a candidate completes the physical examination of
a patient are that either he/she is confident about the diagnosis or he/she identified
the findings but is not confident about the exact diagnosis (in the latter scenario, the
candidate has two or three possible differential diagnoses). If the former scenario is
applicable and the candidate is confident about the diagnosis (for example the candidate
found a pansystolic murmur of maximal intensity at the mitral area radiating to the
axilla suggestive of mitral regurgitation), then the candidate should tell the diagnosis
first and then refer to the findings. For example, the examiner asks what your diagnosis
is. The typical answer should be: ‘well, this gentleman has features to suggest mitral
regurgitation as evidenced by muffled first heart sound, a pansystolic murmur of grade
III of VI heard best at the mitral area radiating to the axilla’. There are no signs of heart
failure or infective endocarditis and I would like to request echocardiography to confirm
my findings and assess the severity of the valve lesion. A candidate who is confident about
a combined aortic valve disease (stenosis and regurgitation) can provide the following
answer: ‘well, this pleasant lady has features to suggest combined aortic stenosis and
regurgitation as evidenced by an ejection systolic murmur heard best in the aortic area
grade III of VI radiating to the neck as well as an early diastolic murmur at the aortic area’.
The patient seems to be in heart failure as I could hear bilateral crackles over the lung
bases. The predominant valvular lesion seems to be aortic regurgitation, as the pulse is
collapsing and I could find peripheral signs of aortic regurgitation.
Alternatively, the candidate may have established some findings but he/she is not
confident regarding the diagnosis. In other words, he/she is confused as the findings
could fit more than one diagnosis. In that scenario, I suggest that the candidate should
present his/her findings first and then suggest a diagnosis and justify or defend his/her
thinking. An example of this, a candidate found a harsh systolic murmur over the base
(aortic area) but could also hear a loud murmur over the mitral area and is not confident
6 Part 1 Advice on how to prepare for and pass clinical examinations

whether it is aortic stenosis or mitral regurgitation. The typical candidate answer will be:
‘well, I examined this pleasant lady who has a holosystolic murmur that is best heard over
the aortic area; however, I could also hear the same murmur with the same intensity over
the tricuspid and mitral area’. Although the murmur is heard loudly over the mitral area,
it does not radiate to the axilla and I could hear radiation of the murmur in the neck. This
makes aortic stenosis the most likely diagnosis in my mind; however, coexistent mitral
regurgitation needs to be ruled out by echocardiography. The patient is not in heart failure
and there are no signs of infective endocarditis. In the second scenario, the examiners
usually ask questions that can lead the candidate to the correct diagnosis. Now think what
will be the candidate mark, if he/she stated that the diagnosis was aortic stenosis and
stopped and it turned to be mitral regurgitation or vice-versa. The second important point
candidates need to consider when presenting their findings is to show extreme respect
to the patient. A male patient should always be referred to as a ‘pleasant gentleman’ and
a female patient as a ‘pleasant lady’. Although each candidate is given a mark before the
next candidate is examined, the examination is a competition between candidates and
examiners will usually compare your performance to other candidates. A candidate who
starts his answer by: ‘well, I examined this pleasant gentleman/lady…., is considered
more courteous to the one who starts by: this patient or this old woman, etc.’ Candidates
in clinical examinations are usually under tremendous anxiety and stress, and a simple
question by the examiner might be interpreted by the anxious candidate as a trick or
trap. Always think simple and in case you doubt as to what the examiner means by the
question, do not provide an unsure answer, simply request the examiner politely to repeat
or rephrase the question.

Further reading
Cascarini L, Irani M. Surviving a clinical exam: a guide for candidates. J R Soc Med 2005; 98:174–177.
deVirgilio C, Chan T, Kaji A, Miller K. Weekly assigned reading and examinations during residency, ABSITE
performance, and improved pass rates on the American Board of Surgery Examinations. J Surg Educ 2008;
65:499–503.
Duvivier RJ, van Geel K, van Dalen J, Scherpbier AJ, van der Vleuten CP. Learning physical examination skills
outside timetabled training sessions: what happens and why? Adv Health Sci Educ Theory Pract 2012;
17:339–355.
Martineau B, Mamede S, St-Onge C, Rikers RM, Schmidt HG. To observe or not to observe peers when learning
physical examination skills; that is the question. BMC Med Educ 2013; 13:55.
Walsh K. How to pass exams: evidence-based advice? J R Soc Med 2005; 98:294.
 Part 2
Cardiovascular cases

How to examine a patient with heart disease?

Important rules
Candidates may hear different examiner's instructions, such as examine the
cardiovascular system, examine the heart, or examine the precordium. Many candidates
get confused on whether to examine only the precordium or look for peripheral signs of
cardiac diseases. I suggest that even if the instruction is to examine the heart, candidates
should start by looking for peripheral signs of cardiovascular disease unless they are
redirected by the examiners to examine only the precordium. A common cause of failure
is when candidates miss important peripheral signs such as clubbing or signs of infective
endocarditis (IE) in a patient with valvular heart disease.
• Wash your hands.
• Shake hands with the patient, introduce yourself and obtain permission.
• Position the patient at a 45° angle and request the patient to remove the upper clothes.
• Inform the patient to alert you in case any discomfort or pain happens during the
examination.
• Start by general inspection of the patient and the surrounding. This may give you
important clues about the condition and the diagnosis of the patient.
–– A patient who is using oxygen can have heart failure (HF) or serious heart disease.
–– A patient in a semi-sitting position from the start who appears in respiratory
distress is likely to have significant HF, while one lying comfortably in a flat position
at the start of the examination is less likely to have significant pulmonary oedema.
–– The presence of a mitral face [a malar flush due to mitral stenosis (MS)] suggests a
diagnosis of MS (Figure 2.1).
–– A tall marfanoid habitus may suggest the diagnosis of aortic regurgitation (AR) due
to Marfan’s syndrome.
–– The inability of the patient to move his or her neck [particularly during jugular
venous pressure (JVP) examination] should raise the suspicion of ankylosing
spondylitis with an associated AR.
–– The external appearance of Down’s syndrome may suggest an atrioventricular
septal defect.
–– Similarly, the presence of a webbed neck in a woman who looks short may indicate
the reason for cardiovascular system examination is coarctation of the aorta
complicating Turner’s syndrome.

Figure 2.1 Facial appearance in mitral stenosis.

8 Part 2 Cardiovascular cases

–– The presence of an ongoing intravenous heparin infusion may suggest atrial

fibrillation (AF) or a presence of a metallic valve.
• Hand examination:
–– Hold the right hand of the patient and feel the pulse. Pay attention to the rhythm
as an irregular pulse can be easily missed by an anxious candidate. Record the
rate, rhythm, volume, any special character, presence of synchronous pulse on
the other arm and feel for the radiofemoral delay. Enquire from the patient about
the presence of shoulder or arm pain before you lift his/her arm to check for a
collapsing pulse.
–– Examine the hands for clubbing, cyanosis, pallor, splinter haemorrhage, Janeway
lesions, and Osler’s nodes (Figure 2.2).
• Move to the face and mouth. Examine the eyes for pallor, cheeks for a malar flush of
MS, cyanosis, and dental caries (Figure 2.1).
• Examine the neck for JVP, dancing carotid pulsations ‘Corrigan’s pulse’ of AR and
thyroid gland (particularly in a patient with AF).
• Follow the steps of inspection, palpation, and auscultation to examine the precordium.
• During the inspection of the chest and precordium, pay attention to the following:
–– Presence of any visible pulsations or hyperdynamic precordium.
–– The shape of the chest such as pectus excavatum (Figure 2.3) or carinatum (Figure 2.4).
–– The presence of scars such as sternotomy and thoracotomy scars. In females, surgical
scars may be placed underneath the breasts for cosmetic reasons. Take permission
from the patient and left the breasts to look for scars (Figures 2.5 and 2.6).
–– The presence of implanted cardiovascular devices such as a cardiac pacemaker,
implantable cardioverter-defibrillator (ICD) or cardiac resynchronisation therapy
(CRT) can be easily missed by candidates, if they do not inspect carefully for scars
below the clavicles (Figure 2.7).
–– In some patients with prosthetic mechanical valves, metallic clicks of the valves
can be heard during an inspection of the chest/precordium. An anxious candidate
may miss that sound.
• Before you start precordial palpation, ask about any pain in the chest.
–– Feel for the apex beat; determine its location and character.
–– Feel for a parasternal heave.
–– Feel for thrills and determine their timing with the cardiac cycle (systolic or
diastolic).
–– Feel for a palpable second heart sound.

Figure 2.2 Finger clubbing and splinter haemorrhage

in a patient with infective endocarditis.
 How to examine a patient with heart disease? 9

Figure 2.3 Pectus excavatum. Figure 2.4 Pectus carinatum.

Figure 2.5 Median sternotomy scar. Figure 2.6 Thoracotomy scar.

10 Part 2 Cardiovascular cases

Figure 2.7 Left infraclavicular pacemaker/implantable

cardioverter-defibrillator (ICD) scar.

• Important points during palpation of the precordium:

–– The character of the apex beat can provide a clue about the underlying diagnosis.
Heaving (forceful and sustained) apex beat is felt in the case of hypertrophied left
ventricle. This is typically found in aortic stenosis (AS) and chronic hypertension
(HTN). Forceful nonsustained apex beat is usually felt in the case of dilated left
ventricle from volume overload. This is typically found in AR. Tapping apex beat is
typically felt in MS and results from a very loud S1 that is palpable.
–– If you cannot feel the apex beat on the left side of the chest, develop the habit of
palpating the right side of the chest (dextrocardia can be easily missed).
–– Parasternal heave is felt when there is a right ventricular enlargement or left atrial
enlargement.
• Cardiac auscultation:
–– Start listening at the apex and simultaneously place your free hand over the carotid
to enable you to time the heart sounds, this is essential.
–– Listen first to the first heart sound (S1) and second heart sound (S2). Determine
whether they are normal in intensity, muffled, or loud. Check whether the splitting
of the S2 is normal, wide, or fixed.
–– Once you hear a murmur, determine the place of its maximal intensity. This is
usually the site of origin of the murmur. For example, if you hear a pansystolic
murmur loudest at the mitral area, that murmur is most likely to result from mitral
valve disease. Determine also the character, radiation, and effect of respiration on
the murmur.
–– Once you finish listening to the four areas, ask the patient to tilt to the left lateral
position to listen for the mid-diastolic murmur of MS (both the diaphragm and the
bell should be used over the mitral area) (Figure 2.8).
–– Ask the patient to sit forward, breathe out and hold breath to examine for the
murmur of AR (Figure 2.9).
 Important rules regarding cardiovascular cases in the clinical examinations 11

Figure 2.8 Tilt the patient to the left lateral position Figure 2.9 Ask the patient to sit forward and hold
to listen for mitral stenosis (MS) murmur. breathing.

Figure 2.10 Pitting oedema of the legs (observe also

the presence of diabetic dermopathy).

–– Auscultate carefully over the left axilla for radiation of the mitral regurgitation (MR)
murmur and the carotids in the neck for the radiation of the murmur of AS.
• Finish your examination by listening to the lung bases and feeling for pitting pedal
oedema (Figure 2.10). Remember during the examination for pitting oedema to
enquire from the patient about leg pain before pressing over the legs and to direct your
face towards the patient for any tenderness rather than towards the examiner.

Important rules regarding cardiovascular cases in the clinical

examinations
• Many candidates feel that the time given for cardiovascular cases in clinical
examinations is not sufficient. The frequent timed practice of the cardiovascular system
examination under the supervision of a registrar or a consultant will be very helpful.
• A systolic murmur that radiates to the neck is due to AS.
• A systolic murmur that radiates to the axilla is due to MR.
• If you find a displaced apex beat in a patient with MS, listen carefully for other
coexistent valvular lesions. Pure MS does not cause a displaced apex beat.
12 Part 2 Cardiovascular cases

Figure 2.11 Finger clubbing and cyanosis in a patient

with Eisenmenger complex.

• The early diastolic murmur of AR may mimic breath sounds. Make sure that you ask the
patient to hold breath when listening for this murmur.
• When you find a pure AR in the examination, make sure you do not miss a cause such
as ankylosing spondylitis or Marfan’s syndrome.
• Do not forget to examine for peripheral signs of AR when you find an early diastolic
murmur in the aortic area.
• AS murmur may be harsh and can also be heard in the mitral area (Gallavardin
phenomenon). Candidates often misinterpret this as MR. The clue is in the radiation to
the neck and an absence of radiation to the axilla.
• In Eisenmenger syndrome, the murmur of the ventricular septal defect (VSD) may
disappear. If you are asked to examine the cardiovascular system of a patient with
cyanosis, clubbing, and elevated JVP, think of Eisenmenger syndrome even if you
cannot hear a murmur (other differential diagnosis includes chronic lung diseases)
(Figure 2.11).
• If you cannot feel the apex beat and you do not hear heart sounds, keep in mind
dextrocardia. Some candidates developed a good habit of feeling both sides of the chest
for the apex beat as they begin their examination.
• It is very important to remember that the indications for IE prophylaxis in valvular
heart disease have been modified recently. Many of the common valvular lesions and
common procedures do not justify prescribing prophylactic antibiotics.

Mitral stenosis
Common instructions
•• This woman was referred for the evaluation of breathlessness on exertion. Please
examine her cardiovascular system.
•• This gentleman was referred from a gastroenterologist for abnormal heart findings
prior to gastroscopy. Please examine his cardiovascular system and provide reply to
the gastroenterologist.
•• This gentleman has a persistently elevated erythrocyte sedimentation rate (ESR).
Please examine his cardiovascular system.
 Mitral stenosis 13

Common pitfalls
• Candidates miss coexistent AF.
• Candidates fail to recognise the presence of some complications of MS such as
haemiplegia/stroke from systemic embolisation.
• Candidates fail to spot signs of IE (Figure 2.2).
• Failure to suspect and look for coexistent valvular lesion (AR or MR regurgitation) in
presence of a displaced apex beat.

The typical presentation of the findings

Well, this gentleman has features to suggest MS as evidenced by a low pulse volume,
tapping apex, loud S1, opening snap, and a mid-diastolic rumbling murmur of grade
II of VI best heard at the mitral area. There were no signs to suggest IE or pulmonary
hypertension (PHT) and no clinical evidence of AF.
Examiner: What could be the cause of her exertional breathlessness?
Candidate: Dyspnoea in MS results from elevation in the left atrial pressure and
pulmonary venous congestion. Besides, reduced cardiac output may also cause dyspnoea.
Examiner: Which another diagnosis may give similar findings and is an important
differential diagnosis of MS?
Candidate: Left atrial myxoma (it may give a diastolic murmur due to obstruction of
atrioventricular valves).
Examiner: What comes to your mind, if this patient has a persistently elevated ESR?
Candidate:
• Left atrial myxoma
• Infective endocarditis.
Examiner: How would you differentiate MS from atrial myxoma on physical
examination?
Candidate:
• The murmur in left atrial myxoma is typically a presystolic one (when the left ventricle
contracts, it pushes the tumour towards the valve).
• Left atrial myxoma murmur may change with the change of position.
• The presence of tumour ‘plop’ sound (an early diastolic sound produced by sudden
movement or impact of the tumour against the endocardial wall).
Examiner: What basic and simple blood tests may help in diagnosing myxoma?
Candidate:
• Elevated ESR.
• Elevated C-reactive protein (CRP) and leucocytosis.
• Elevated serum interleukin-6 levels (can also be used as a marker of tumour recurrence
after surgery).
Examiner: Why is the pulse volume low in MS?
Candidate: Due to reduced stroke volume.
Examiner: Did you notice anything in this patient’s face?
Candidate: He has malar flush (pinkish-purple cheeks) resulting from decrease cardiac
output (reduced stroke volume) leading to vasoconstriction (Figure 2.1).
14 Part 2 Cardiovascular cases

Examiner: Why is S1 loud in MS?

Candidate: It is due to the increase in left atrial pressure leading to closure of the mitral
valve from a wide distance.
Examiner: What does it mean, if S1 is soft in pure MS?
Candidate: It indicates that the valve is heavily calcified.
Examiner: What happens to S2 in MS?
Candidate: S2 may be normal or it may become loud, if there is PHT.
Examiner: What is the mechanism of the opening snap in MS and what are its clinical
implications?
Candidate: It is heard after S2 at the apex and is best heard at the left sternal border. It is
caused by a sudden and rapid opening of the mitral valve in early diastole due to the high
pressure in the left atrium. The opening snap helps in determining the severity of MS.
When the valve becomes severely stenotic or heavily calcified, the interval between S2
and opening snap becomes shorter and the opening snap may disappear.
Examiner: Which sound is usually confused for the opening snap and how would you
differentiate them?
Candidate: Splitting of S2 (e.g. due to PHT) can be confused for the opening snap.
Variation with respiration may help to differentiate these two sounds.
Examiner: Is opening snap pathognomonic for MS?
Candidate: No. It can be heard in tricuspid stenosis and left atrial myxoma. (Remember
that opening snap is almost always due to MS in clinical examinations).
Examiner: In which condition will you not be able to hear presystolic accentuation of the
MS murmur?
Candidate: If the patient has AF.
Examiner: What factors indicate the severity of MS?
Candidate:
• A short S2-opening snap interval.
• Signs of PHT.
• Long mid-diastolic murmur.
• Mitral valve area <1.5 cm2.
Examiner: What are the causes of MS?
Candidate:
• Rheumatic heart disease (RHD).
• Congenital MS/Lutembacher’s syndrome [Atrial septal defect (ASD) with MS].
• Mitral annular calcification [e.g. in patients with end-stage renal disease (ESRD)].
• Systemic lupus erythematosus (SLE).
Examiner: What are the complications of MS?
 Mitral stenosis 15

Candidate:
• Systemic embolisation
• Pulmonary hypertension
• Infective endocarditis
• Haemoptysis.
Examiner: What if this patient comes with hoarseness of voice?
Candidate: Compression of the left recurrent laryngeal nerve against the pulmonary
artery by an enlarged left atrium may rarely cause hoarseness (Ortner’s syndrome).
Examiner: How would you manage this patient?
Candidate:
• Electrocardiogram (ECG) to look for AF.
• Perform transthoracic echocardiography to:
–– Confirm the diagnosis.
–– Quantify haemodynamic severity.
–– Pulmonary hypertension.
–– Assess concomitant valvular lesions.
• Surgical intervention is indicated in:
–– Very severe MS with a mitral valve area <1.0 cm2
–– Severe MS with a mitral valve area <1.5 cm2 with:
■■ Severe symptoms: NYHA III or IV
■■ Presence of PHT (pulmonary artery systolic pressure ≥25 mmHg)
■■ Possibly, in new-onset AF or multiple systemic embolisations despite
adequate anticoagulation.
• Anticoagulation for prevention of thromboembolism (high-risk groups include prior
embolic event, AF, small mitral valve area, presence of AR, and left atrial thrombus).
• Management of AF, if the patient has AF.
• Prevention of rheumatic fever recurrence.
Examiner: The gastroenterologist is asking if antibiotic prophylaxis for IE before
gastroscopy is needed.
Candidate: The prophylaxis against IE has recently been updated and not all valvular
lesions or procedures require prophylaxis (see infective endocarditis section). MS is a
low-risk murmur and gastroscopy is a low-risk procedure. Therefore, IE prophylaxis is not
needed in this case.
Examiner: What if he is going for an invasive dental procedure (high-risk procedure)?
Candidate: Both the type of valve lesion and the type of procedure should be considered
when deciding about antibiotic prophylaxis. In this scenario, the procedure is a high-
risk one but the valve lesion is not. Therefore, antibiotic prophylaxis is still not indicated
unless the patient has a previous history of IE. Therefore, it is crucial to ask about the prior
history of IE in low-risk valve lesions.
Examiner: What question would you ask the patient before deciding not to give him
prophylaxis before the dental procedure?
Candidate: I have to ask him about the previous history of IE. If he has a previous history
of IE, then antibiotic prophylaxis is indicated before dental procedures in MS.
16 Part 2 Cardiovascular cases

Mitral regurgitation
Common instructions

•• This woman complains of fatigue and mild breathlessness. Please examine her
cardiovascular system.

Common pitfalls
• Candidates hear radiation of a systolic murmur to the axilla and fail to diagnose MR.
• Candidates confuse harsh AS with MR.

The typical presentation of the findings

This pleasant lady has a brisk pulse, displaced apex beat, systolic thrill in the mitral area,
soft S1, and a loud pansystolic murmur grade III of VI heard best in the mitral area, which
radiates to the axilla. She has MR with no signs of HF or IE.
Examiner: How would you differentiate a high volume pulse in AR from that of MR?
Candidate: In MR, the pulse pressure will be normal, while in AR, it will be wide.
Examiner: What are the causes of MR?
Candidate:
• Mitral valve prolapse (most common cause in developed countries).
• Rheumatic heart disease.
• Infective endocarditis.
• Acute MR in ischaemic heart disease (rupture papillary muscle).
• Left ventricular failure (dilatation of valve).
• Hypertrophic cardiomyopathy.
Examiner: What are the main complications of MR?
Candidate:
• Development of left ventricular dysfunction.
• Atrial fibrillation.
• Infective endocarditis.
Examiner: Which factors indicate the severity of MR?
Candidate:
• Acute MR from acute coronary syndrome (This condition may cause sudden onset
of pulmonary oedema with no or a faint MR murmur. It results from the rapid
equalisation of pressure between the left atrium and left ventricle).
• Development of symptoms and signs of left ventricular dysfunction.
• Regurgitant fraction >50%.
• Regurgitant volume >60 mL.
• Left ventricular ejection fraction (LVEF) <60%.
• Left ventricular end-systolic diameter (LVESD) >40 mm (LV dilatation).
Examiner: In the presence of coexisting MS, how would you determine the predominant
valvular lesion?
 Aortic regurgitation 17

Candidate: Presence of displaced apex beat; high volume pulse and muffled S1 suggest
that MR is the predominant lesion.
Examiner: What are the indications for surgical intervention in MR?
Candidate:
• Patients with acute MR who are symptomatic.
• Symptomatic severe MR (regurgitant fraction >50% or volume >60 mL) with LVEF >30%.
• Asymptomatic severe MR with one of the following:
–– LVEF between 30 and 60%.
–– LVESD <40 mm.
–– Development of AF.
–– Development of PHT.
Examiner: How would you manage this patient?
Candidate:
• Serial echocardiography to follow LVEF.
• Afterload reduction by diuretics and nitrates.
• IE prophylaxis is not routinely recommended in mitral and aortic RHD except in high-
risk groups (see section on IE).
• Treat AF.

Aortic regurgitation
Common instructions

•• This gentleman complains of breathlessness on exertion. Please examine his

cardiovascular system.

Common pitfalls
• Failure to examine for peripheral signs of AR.
• Missing AR murmur as breath sound particularly when there is another valvular lesion.
• Failure to diagnose AR in a patient with dancing carotid pulsations.
• Failure to recognise clinical features of Marfan’s syndrome or ankylosing spondylitis in
a patient with AR.

The typical presentation of the findings

Candidate 1: This gentleman has a collapsing pulse. There is a dancing carotid (Corrigan’s
sign) and a ‘pistol shot’ sound heard over the femoral artery (Traube’s sign). There is a
blowing early diastolic murmur heard best at the left second intercostal space. His lung
auscultation revealed bilateral basal crackles. There are no signs of IE. This patient has
AR, which seems to be severe. I would like to examine for other peripheral signs of AR.
Candidate 2: This gentleman has a collapsing pulse and a blowing early diastolic murmur
heard best at the right third intercostal space. I could notice that he has also Marfanoid
habitus with a high-arched palate and long arms. He is not in HF and there are no
18 Part 2 Cardiovascular cases

peripheral signs of AR. I suggest the diagnosis of AR most likely secondary to Marfan’s
syndrome. I would like to complete my examination by looking for other signs of Marfan’s
syndrome.
Examiner: What are the causes of AR?
Candidate:
• Valve disease such as:
–– Rheumatic heart disease.
–– Infective endocarditis.
–– Congenital bicuspid valve.
• Aortic root disease such as:
–– Marfan’s syndrome.
–– Long-standing hypertensio.
–– Syphilitic aortitis.
–– Ankylosing spondylitis.
–– Ehlers–Danlos syndrome.
–– Aortic dissection.
Examiner: How could you identify the cause of AR from the site of the murmur?
Candidate: AR due to valvular disease is usually heard over the third and fourth
intercostal space of the left sternal border, while that due to aortic root disease is heard
best over the right sternal border.
Examiner: If you hear an ejection systolic murmur at the aortic area, what could it be?
Candidate: It could be due to coexisting AS or functional stenosis resulting from the large
volume of blood passing through the aortic valve because of AR.
Examiner: If you hear an associated mid-diastolic murmur at the apex, what could it be?
Candidate: It can be an associated MS or an Austin–Flint murmur.
Examiner: How would you differentiate MS from an Austin–Flint murmur?
Candidate: An Austin–Flint murmur occurs because of the turbulence of blood at the
mitral valve due to the regurgitation of blood from the aorta into the left ventricle. In
Austin–Flint, S1 will be normal and there is no opening snap.
Examiner: What are the peripheral signs of AR?
Candidate:
• Becker sign – visible systolic pulsations of the retinal arterioles.
• Corrigan pulse (dancing carotid pulsation).
• de Musset’s sign—bobbing of the patient’s head with each heartbeat.
• Hill sign—popliteal cuff systolic blood pressure 40 mmHg higher than brachial cuff
systolic blood pressure.
• Duroziez sign—systolic and diastolic murmur over the femoral artery with mild
compression of the artery.
• Müller sign—visible systolic pulsations of the uvula.
• Quincke's sign—visible capillary pulsations of the fingernail bed.
• Pistol-shot sign (Traube’s sign)—systolic and diastolic sounds heard over the femoral
artery.
 Aortic stenosis 19

Examiner: Why do these signs occur in AR?

Candidate: All these signs result from widened pulse pressure (the exaggerated difference
between systolic and diastolic blood pressure) because of elevated stroke volume during
systole that falls significantly during diastole due to the incompetent aortic valve.
Examiner: What are the main complications of chronic AR and what is the single-most-
important prognostic factor?
Candidate: Progressive left ventricular dysfunction and failure, angina, arrhythmia, and
sudden death. Patients with AR and NYHA class III or IV heart failure have an annual
mortality of about 25%. The single most important prognostic factor is the LV function.
Examiner: What are the factors indicating the severity of AR?
Candidate:
• Clinical factors: Displaced apex beat, longer AR murmur, and presence of peripheral
signs that suggest wider pulse pressure (see earlier).
• Echocardiographic factors: LVEF <50% and LVESD >50 mm (remember the number 50.
They all represent the dilatation or poor function of LV).
Examiner: How would you manage this patient?
Candidate:
• Serial echocardiography to assess LVEF and LVESD.
• Exercise stress test.
• Cardiac catheterisation to assess the presence of coronary artery disease (CAD) and
severity of AR.
• Vasodilator drugs like angiotensin-converting enzyme (ACE) inhibitors and calcium
channel blockers to decrease afterload.
• Infective endocarditis prophylaxis is not routinely recommended in mitral and aortic
RHD except in the high-risk groups (see the section on IE).
Examiner: What are the indications for surgery in AR?
Candidate:
• Acute AR from IE or aortic dissection.
• Symptomatic patient.
• Asymptomatic patient with a resting LVEF <50%.
• Asymptomatic patient with LV dilation LVESD >50 mm.
• Asymptomatic patient with AR who is undergoing coronary bypass or other cardiac
surgery.

Aortic stenosis
Common instructions

•• This gentleman complains of recurrent chest pain. Please examine his cardiovascular
system.
•• This patient was referred because of syncopal attack. Please examine his
cardiovascular system.
20 Part 2 Cardiovascular cases

Common pitfalls
• Failure to differentiate aortic sclerosis from AS.
• Misdiagnosing AS as MR in a patient whose murmur radiates to the neck
(misinterpretation of the Gallavardin phenomenon).
• Failure to diagnose coexistent AR, as it is commonly associated with AS (in 80% of
cases).

The typical presentation of the findings

This gentleman has a displaced apex beat, which is heaving (forceful sustained) in
character with a slow rising pulse (pulsus parvus tardus), S4, and a harsh ejection systolic
murmur best heard over the right second intercostal space and radiates to the neck. I
could hear the same murmur but a bit softer at the apex in the mitral area. There was no
radiation to the axilla. I would suggest pure AS (without coexistent MR): Gallavardin
phenomenon. There are no signs of HF or IE.
Examiner: What do you mean by the Gallavardin phenomenon?
Candidate: An AS murmur sometimes has two components: A noisy harsh component
that is heard in the right second or third intercostal space and radiates to the neck and a
musical component that radiates to the apex (mitral area). This musical component may
be mistaken for MR.
Examiner: Then how would you differentiate between the Gallavardin phenomenon and
the presence of true MR?
Candidate: The murmur of MR usually radiates to the axilla, whereas that due to
Gallavardin does not.
Examiner: Which cause of AS usually produces the Gallavardin phenomenon?
Candidate: Degenerative AS.
Examiner: What are the common causes of AS?
Candidate:
• Congenital AS (unicuspid, bicuspid, or tricuspid valve):
–– In adults, a bicuspid aortic valve is the most common cause of AS.
–– In children, a unicuspid valve predominates.
• Acquired AS:
–– Degenerative calcific AS is the most common cause in older patients (risk factors
include: Diabetes, HTN, hypercholesterolaemia, and smoking).
–– Rheumatic heart disease.
Examiner: How would you differentiate between AS and aortic sclerosis?
Candidate: In aortic sclerosis, the murmur usually does not radiate to the neck and the
volume of the pulse is usually high rather than slow rising. Also, in AS, there is usually a
reduced pulse pressure (the difference between systolic and diastolic is <40 mmHg).
Examiner: Other than aortic sclerosis, which condition is considered an important
differential diagnosis of AS and can be misdiagnosed as AS?
Candidate: Hypertrophic cardiomyopathy (HCM) is one of the most important
differential diagnoses of AS.
 Aortic stenosis 21

Examiner: How would you differentiate between HCM and AS on a clinical basis?
Candidate:
• HCM murmur is a high-pitched, crescendo-decrescendo, and mid-systolic murmur.
• HCM murmur is heard best over the left lower sternal border.
• HCM murmur does not radiate to the neck.
• The murmur of HCM becomes louder with the Valsalva manoeuvre and standing from
the squatting position.
• Presence of double carotid arterial pulse in HCM.
• Presence of double apex beat (double apical impulse) in HCM.
Examiner: What do you mean by pulsus parvus tardus and how would you check for its
presence?
Candidate: Parvus means low volume and tardus means rising slowly. You need to place
one hand over the apex beat and the other over the carotid pulse. In addition to being low
in volume, there will be a delay in the upstroke of the carotid pulse compared to the apex
beat. Tardus is more specific than parvus in AS.

What is the classic triad of symptoms in AS?

Candidate: Angina, dyspnoea, and syncope/dizziness.
Examiner: What is the incidence of sudden cardiac death in AS?
Candidate: About 30% in symptomatic AS.
Examiner: If this patient presents with bleeding per rectum, what do you suspect as a
cause?
Candidate: Colonic angiodysplasia. Aortic valve replacement may cure angiodysplasia
and recurrent bleeding.
Examiner: What factors indicate the severity of AS?
Candidate:
Clinical:
• Presence of symptoms.
• Prolonged louder murmur.
• Paradoxical splitting of S2 (due to delayed closure of A2).
• Presence of S4.
• Pulsus parvus tardus.
Echocardiographic:
• Valve area <1 cm2.
• Mean pressure gradient across the valve >40 mmHg.
Examiner: How would you manage this patient?
Candidate:
• Request echocardiography to assess the valve area and pressure gradient.
• Caution when prescribing blood pressure-lowering medications to avoid excessive
lowering of preload (diuretics, β-blockers, and vasodilators such as nitrates,
hydralazine, and nifedipine should be used with caution and in smaller doses).
• Instruct the patient to avoid standing suddenly from a sitting or recumbent position.
22 Part 2 Cardiovascular cases

• No routine endocarditis prophylaxis is indicated in valvular AS except in the high-risk

groups mentioned in the IE section.
• Cardiac catheterisation to look for coexistent CAD.
Examiner: What are the indications for surgery in AS?
Candidate:
• Surgery is the mainstay treatment of symptomatic AS.
• Asymptomatic severe AS with LVEF <50% or abnormal exercise treadmill test.
• Asymptomatic severe AS in a patient undergoing other cardiac surgery.
Examiner: What factors favour transcatheter aortic valve replacement (TAVR)?
Candidate:
• Patients aged ≥75 years.
• Intermediate to high surgical risk.
• Female sex.
Examiner: Since this patient presented with recurrent chest pain (or syncope), what do
you think is the best treatment option?
Candidate: Surgery.

Mixed valvular lesions

Examiner: What do you think are the causes of this combination of valvular lesions?
Candidate:
• The most common cause of mixed valvular lesions is RHD (almost half of the cases).
• Degenerative valve disease can manifest as a combination of MS (degenerative mitral
annulus and leaflet calcifications) and AS in the elderly.
• Infective endocarditis.
• Patients with MS treated with valvotomy may develop MR (think of valvotomy as a
cause of MR, if you find a combination of MS and MR).
• Ischaemic heart disease.
• Mediastinal irradiation.
• Carcinoid tumours may result in mixed tricuspid and pulmonary valve lesions.
Examiner: Which combination of valvular heart disease do you think is the worst?
Candidate: Aortic stenosis combined with MS is usually poorly haemodynamically
tolerated, as it may result in a severe reduction in cardiac output.
Examiner: How would you determine the predominant valve lesion in mixed valvular
lesions?
Candidate: In a patient with mixed valvular lesions, finding clinical signs that are
suggestive of the severity of one of these lesions is usually indicative of the predominance
of that valve lesion (Tables 2.1 and 2.2).
 Hypertrophic cardiomyopathy 23

Table 2.1 Signs that suggest the predominant valve in mixed AS and AR
Sign AS predominant AR predominant
Pulse Low volume pulse/slow rising pulse Collapsing pulse
Pulse pressure Narrow pulse pressure Wide pulse pressure
Apex beat Heaving (forceful sustained) Forceful unsustained and displaced
Additional sound S4 S3
Others Presence of peripheral signs of AR
AS, aortic stenosis; AR, aortic regurgitation; S3, third heart sound; S4, fourth heart sound

Table 2.2 Signs that suggest the predominant valve in mixed MS and MR
Sign MS predominant MR predominant
Pulse Small volume Large volume
Apex beat Undisplaced Displaced
S1 Loud Soft
Signs of left ventricular failure Absent Present
Signs of pulmonary hypertension Present May be absent
MS, mitral stenosis; MR, mitral regurgitation; S1, first heart sound

Hypertrophic cardiomyopathy
Common instructions

•• This young athlete gentleman referred for abnormal heart sounds on pre-
employment check-up. Please examine his cardiovascular system.
•• This young gentleman presented with a syncopal attack (or recurrent episodes of
chest pain). Please examine his cardiovascular system.

Common pitfalls
• Misdiagnosing HCM as AS.
• Failure to mention HCM in the differential diagnosis of ejection systolic murmur.
• Failure to perform manoeuvres that make HCM murmur louder.

The typical presentation of the findings

This pleasant gentleman has a normal pulse. There is a double apex beat and a mid-
systolic murmur heard best at the left lower sternal border. The murmur does not radiate
to the neck and becomes louder with the Valsalva manoeuvre. (There is also a pansystolic
murmur heard at the mitral area radiating to axilla.) The most likely diagnosis is HCM
complicated by MR.
24 Part 2 Cardiovascular cases

Examiner: What is the molecular defect behind HCM?

Candidate: In HCM, there are mutations affecting genes of the cardiac sarcomere
encoding for the β-myosin heavy chain and myosin-binding protein C. HCM is most
frequently transmitted as an autosomal dominant trait. The disease leads to an increase
in septal and left ventricular wall thickness and fibrosis. The thickened septum and the
systolic anterior motion (SAM) movement of the mitral valve resulting from the abnormal
location of the mitral valve lead to left ventricular outflow obstruction and MR.
Examiner: What are the symptoms of HCM?
Candidate: The spectrum of HCM symptoms vary widely and can range from no
symptoms to sudden cardiac death depending on the degree of myocardial involvement.
• Asymptomatic (discovered on routine check-up).
• Recurrent angina.
• Syncope.
• Dyspnoea.
• Sudden cardiac death.
Examiner: How would you differentiate between HCM and AS on a clinical basis?
Candidate:
• HCM murmur is a high-pitched, crescendo-decrescendo, and mid-systolic murmur.
• HCM murmur is heard best at the left lower sternal border.
• HCM murmur does not radiate to the neck.
• The murmur of HCM becomes louder with the Valsalva manoeuvre and standing from
the squatting position.
• Most patients with HCM and left ventricular outlet obstruction also have signs of MR.
• Presence of double carotid arterial pulse in HCM.
• Presence of double apex beat (double apical impulse) in HCM.
Examiner: How does the apex beat in a patient with HCM differ from other valve diseases?
Candidate: Double apical impulse (double apex beat) is characteristic of HCM and seen
more in adults. It results from a forceful left atrial contraction against a very stiff left
ventricle.
Examiner: Why does the murmur of HCM get louder by the Valsalva manoeuvre?
Candidate: In Valsalva, there is an increase in intrathoracic pressure, which, in turn,
decreases the preload. Reducing the preload in the left ventricle makes the left ventricle
smaller and this, in turn, worsens the stenosis caused by the hypertrophied septum.
Examiner: What is the mechanism of MR in HCM?
Candidate: In patients with obstructive type HCM, the SAM of the mitral valve worsens
the subaortic obstruction caused by the hypertrophied septum and the blood pumped by
the left ventricle may pass to the left atrium resulting in MR.
Examiner: What are the complications of HCM?
 Hypertrophic cardiomyopathy 25

Candidate:
• Congestive heart failure (CHF).
• Mitral regurgitation.
• Infective endocarditis.
• Atrial fibrillation.
• Ventricular arrhythmia.
• Sudden death.
Examiner: What are the causes of HF in patients with HCM?
Candidate:
• Diastolic dysfunction because of LV hypertrophy.
• Mitral regurgitation.
• Systolic dysfunction – occurs in advanced cases.
Examiner: How would you manage this patient?
Candidate:
• ECG and Holter monitoring – look for signs of LVH and arrhythmias (arrhythmias and
sudden cardiac death are important causes of mortality in these patients).
• Echocardiography to measure LV wall thickness, diastolic and systolic function, and
the presence of MR.
• Cardiac magnetic resonance imaging (MRI) – very useful test particularly if
echocardiography is nonconclusive.
• Positron emission tomography (PET) scan can be useful in differentiating HCM from
cardiac amyloidosis.
• Genetic counselling and genetic testing for families and relatives to detect mutations
• Cardiopulmonary exercise testing.
• If there is left ventricular outlet obstruction – β-blockers, disopyramide, verapamil, and
diltiazem.
• Avoid digoxin, nitrates, and diuretics because of their adverse effects in patients with HCM.
• Invasive treatment to reduce left ventricular outlet obstruction (the most commonly
performed surgical procedure used to treat left ventricular outlet obstruction is
ventricular septal myectomy by cutting a piece of the septum to reduce its thickness). It
should be considered in:
–– Left ventricular outlet obstruction gradient ≥50 mmHg.
–– Moderate to severe symptoms (NYHA class III-IV).
–– Recurrent exertional syncope despite maximally tolerated drug therapy.
–– Moderate to severe SAM-related MR.
• Alcohol septal ablation may be a treatment option in patients who are candidates for
septal myectomy.
• Concomitant mitral valve surgery in patients undergoing myectomy.
• Dual chamber pacing for patients not fit for surgery.
• Implantable cardioverter-defibrillators (ICDs) should be considered, if there is a
significant risk of sudden cardiac death or serious arrhythmia.
• Patients with HCM should avoid competitive sports and intense physical activity.
Athletes should be counselled about strenuous physical activities.
• Pre-conception counselling for females with HCM.
26 Part 2 Cardiovascular cases

A patient with prosthetic heart valve

Common instructions

•• This gentleman was referred by his dentist for evaluation of his cardiac condition
prior to tooth extraction. Please examine his cardiovascular system and advise
accordingly.
•• This lady is under investigation by her general practitioner for anaemia. Please
examine her cardiovascular system.

Common pitfalls
• Failure to spot the surgical scars (particularly sub-mammary scars in females).
• Candidates cannot differentiate mitral from aortic valve prosthesis.
• Candidates fail to recognise signs of IE.

The typical presentation of the findings

This patient has a sternotomy scar and an audible metallic click heard loudest in the
mitral area coinciding with S1. There are no signs of HF or IE. He has a metallic mitral
valve. The murmur seems functioning well.
Examiner: What are the different types of prosthetic heart valves?
Candidate:
• Metallic (Figure 2.12):
–– Caged ball valve, e.g. Starr–Edwards valve.
–– Tilting disc valve, e.g. Medtronic–Hall valve.
–– Bileaflet valves, e.g. St Jude valve.
–– On-X mechanical valve (lower thrombosis rate).
• Biological valves (bioprosthetic).
Examiner: What are the advantages of the On-X mechanical valves over other mechanical
valves?

Figure 2.12 Metallic aortic valve.

 A patient with prosthetic heart valve 27

Candidate: On-X mechanical valves are made purely of carbon, which makes them
having a smooth surface and lower thrombosis rate. The INR target in these types of
valves is, therefore, lower than other mechanical valves (1.5–2.0). This, in turn, lowers the
bleeding risk from anticoagulation.
Examiner: What are the clinical features indicating a malfunctioning metallic valve?
Candidate:
• Signs of heart failure.
• Absence of normal valve closure sound.
• Development of abnormal regurgitant murmur (normal metallic valve may be
associated with systolic murmurs).
• Signs of infective endocarditis.
Examiner: What are the complications of metallic valves?
Candidate:
• Metallic valve malfunction leading to heart failure or sudden death.
• Infective endocarditis.
• Systemic embolisation
• Microangiopathic haemolysis.
• Anticoagulation-related bleeding.
Examiner: If this patient presents with anaemia, name two possible causes?
Candidate:
• Warfarin-related bleeding.
• Microangiopathic haemolysis due to the destruction of RBCs on the metallic valve.
Examiner: What are the advantages and disadvantages of the metallic and bioprosthetic
valves?
Candidate:
• Metallic valves have a lower rate of valve dysfunction such as paravalvular leak and,
therefore, are more durable.
• Bioprosthetic valves do not require anticoagulation.
• Survival is equal.
Examiner: How long do artificial valves usually last?
Candidate:
• Metallic valve: Up to 30 years.
• Bioprosthetic valve: Up to 15 years.
Examiner: In which group of patients is a bioprosthetic valve recommended?
Candidate: A bioprosthetic valve, although less durable, does not require anticoagulation.
Therefore, it is recommended for patients aged 65 years or above, patients at risk of
bleeding from warfarin, and patients who may be poorly compliant with warfarin
therapy.
Examiner: How would you manage this patient?
Candidate:
• Patient counselling and education.
• Complete blood count (CBC), bilirubin, and urine microscopy.
28 Part 2 Cardiovascular cases

• Echocardiography to assess valve function.

• Anticoagulation (warfarin is recommended).
• IE prophylaxis: Patients with prosthetic heart valves are a high-risk group and should
receive IE prophylaxis (see infective endocarditis section).
• Counselling regarding pregnancy (risk of valve dysfunction, heart failure,
thromboembolism, and warfarin use).
Examiner: What is the target INR level in mechanical valves?
Candidate:
• Aortic valve: INR target is 2–3.
• Mitral valve: INR target is 2.5–3.5. (Mitral = More)
Examiner: When would you consider the addition of aspirin to warfarin?
Candidate: Those patients with high-risk factors such as AF, venous thromboembolism,
left ventricular dysfunction, and a hypercoagulable state.
Examiner: How would you manage anticoagulation before major surgical procedures?
Candidate: Warfarin is stopped 5 days before surgery to achieve INR <1.5 at the time of
operation and bridging anticoagulation using unfractionated heparin or low-molecular
weight heparin is given until the day of surgery. Warfarin is started 24 hours after surgery
following confirmation of haemostasis.
Examiner: This patient is going for dental extraction. What advice would you offer to his
dentist?
Candidate:
• The prosthetic metallic valve is among the high-risk valves for IE and invasive dental
procedures are also high-risk procedures (see the section on IE). This patient needs
antibiotic prophylaxis.
• Furthermore, we need to manage his INR before the surgery (see earlier).

Ventricular septal defect

Common instructions

•• This gentleman was referred because of abnormal heart findings on routine pre-
employment check-up. Please examine his cardiovascular system.

Common pitfalls
• Misdiagnosing VSD as MR.
• Failure to recognise signs of Down’s syndrome.

The typical presentation of the findings

This pleasant gentleman has a loud harsh holosystolic murmur associated with a systolic
thrill heard best in the left 4th intercostal space. There are no signs of PHT or HF and no
cyanosis. The patient has VSD.
 Ventricular septal defect 29

Examiner: What are the types of VSD?

Candidate:
• Perimembranous – most common type.
• Supracristal – may be associated with AR.
• Muscular.
• Posterior.
Examiner: How does the size of a VSD correlate with the murmur?
Candidate: The smaller the size of VSD, the louder is the murmur.
Examiner: What are the complications of VSD?
Candidate:
• Pulmonary hypertension.
• Polycythaemia.
• Eisenmenger complex.
Examiner: How would you manage this patient?
Candidate:
• Serial echocardiography.
• Cardiac catheterisation to quantify the net shunt.
• IE prophylaxis is not indicated, if no cyanosis and no previous IE.
• Diuretic therapy and ACE inhibitor.
• Surgery.
Examiner: What are the indications of surgical repair in VSD?
Candidate:
• The ratio of total pulmonary blood flow to total systemic blood flow (Qp/Qs) >2.
• Prior history of infective endocarditis.
• Left ventricular volume overload.
• Pulmonary blood flow/systemic blood flow (Qp/Qs) >1.5 with pulmonary artery
pressure < two-thirds of systemic pressure.
• Presence of VSD and AR.
Examiner: What does it mean, if the murmur disappears in a patient with VSD?
Candidate: It means either the VSD has closed (very rare after the age of 4 years) or the
patient has developed Eisenmenger complex.

Eisenmenger complex
Examiner: Which types of heart disease can cause Eisenmenger complex?
Candidate:
• VSD.
• Atrial septal defect.
• Patent ductus arteriosus.
Examiner: What are the clinical manifestations of Eisenmenger complex?
Candidate:
• The holosystolic murmur may disappear.
• Signs of pulmonary hypertension and right heart failure.
30 Part 2 Cardiovascular cases

• Cyanosis.
• Finger clubbing (Figure 2.11).
• Polycythaemia.
Examiner: What is the treatment of choice of Eisenmenger complex?
Candidate: Heart–lung transplantation.

Atrial septal defect

Common instructions

•• This young lady was referred for abnormal heart findings on routine pre-
employment check-up. Please examine her cardiovascular system.

Common pitfalls
• Candidates miss the wide fixed splitting of S2.
• Candidates think that the cause of the ejection systolic murmur in ASD is the flow
across the ASD shunt.

The typical presentation of the findings

This pleasant lady appears comfortable and not in distress. Her pulse is normal.
Precordial examination revealed a wide and fixed splitting of S2 along with an ejection
systolic loudest over the second intercostal space of grade II of VI. There are no signs of
PHT or Eisenmenger complex. The findings are consistent with an ASD.
Examiner: What are the types of ASD?
Candidate:
• Ostium secundum: This is the most common type of ASD.
• Ostium primum: The second most common type of ASD. Usually associated with mitral
valve abnormalities.
• Sinus venosus: The least common type of ASD.
Examiner: What ECG features may differentiate secundum from primum ASD?
Candidate: Patients with ASD commonly have a right axis deviation. Patients with ostium
primum ASD have a left axis deviation.
Examiner: What are the auscultatory findings in ASD?
Candidate: An ejection systolic murmur in the pulmonary area and fixed wide splitting
of S2.
Examiner: What causes the ejection systolic murmur in ASD?
Candidate: The systolic murmur heard in ASD is due to the increased flow across the
pulmonary valve (functional stenosis) and not as a result of blood flow across the ASD
shunt itself.
 Atrial septal defect 31

Examiner: Which murmur mimics ASD murmur and how would you differentiate the
two?
Candidate: Pulmonary stenosis also gives an ESM at the pulmonary area. However, fixed
wide splitting of S2 occurs in ASD but not in PS.
Examiner: If, in addition to the ASD murmur, you hear a mid-diastolic murmur in this
patient, what is the explanation?
Candidate: If a mid-diastolic murmur is heard in the tricuspid area, it is due to increased
blood flow across the tricuspid valve because of a large ASD. If a mid-diastolic murmur is
heard in the mitral area (MS murmur), this is called ‘Lutembacher syndrome’, which is a
combination of ASD and MS.
Examiner: What are the complications of ASD?
Candidate:
• Pulmonary hypertension.
• Eisenmenger syndrome.
Examiner: What do you mean by fixed splitting? And what are the types of S2 splitting do
you know?
Candidate:
• Physiologic splitting: S2 happens because of the closure of the aortic (A2) and
pulmonary (P2) valves. Normally, there is a splitting of the two sounds on auscultation
because the aortic valve closes slightly before the pulmonary valve. This physiologic
splitting is more obvious during inspiration because of the increase in venous return
and, hence, the increase in flow across the pulmonary valve.
• Wide splitting: It is seen in conditions that prolong the emptying of the right ventricle
and, hence, delay the closure of the pulmonary valve. These include:
–– Pulmonary stenosis.
–– Pulmonary hypertension.
–– Right bundle branch block.
• Fixed splitting: It means the splitting is wide and heard both during inspiration and
expiration. This is characteristic of ASD. Due to the left to right shunt created by the
ASD, there is a significant increase in the blood flow across the pulmonary valve, which
causes the valve to close later than the aortic regardless of the respiratory cycle.
• Reversed splitting: Splitting happens during expiration and not inspiration. This
happens when the pulmonary valve paradoxically closes before the aortic valve in
conditions that prolong the flow across the aortic valve such as:
–– Left ventricular outflow obstruction (AS and HCM).
–– Left bundle branch block.
Examiner: How would you manage this patient?
Candidate:
• Echocardiography to assess the size of the shunt and the presence of PHT.
• Spontaneous closure in adults is unlikely (commonly happen in childhood).
• Surgical closure is indicated in patients with significant shunts and patients who
develop PHT and right ventricular overload.
32 Part 2 Cardiovascular cases

Dextrocardia
Common instructions

•• This young gentleman was referred for pre-employment check-up. Please examine
his cardiovascular system.
•• This gentleman was referred for chronic productive cough. Please examine his
cardiovascular system.

Common pitfalls
• Failure to auscultate over the right chest when candidates cannot hear heart sounds on
the left (Figure 2.13).
• Failure to recognise associated features of Kartagener’s syndrome such as clubbing due
to bronchiectasis.

The typical presentation of the findings

The apex beat and heart sounds are absent over the left side of the chest. The heart sounds
are heard clearly over the right side. He also has finger clubbing. Chest auscultation
revealed bilateral coarse crackles that are altered by coughing. This gentleman has
dextrocardia and bronchiectasis. The most likely cause is Kartagener’s syndrome/
primary ciliary dyskinesia. I would like to ask him about the history of infertility.
Examiner: What could be the causes of chronic cough in this patient?
Candidate:
• Bronchiectasis associated with Kartagener’s syndrome.
• Recurrent sinusitis associated with Kartagener’s syndrome.

Figure 2.13 Dextrocardia.

 Atrial fibrillation 33

Examiner: What conditions are associated with dextrocardia in adults?

Candidate:
• Kartagener’s syndrome – characterised by the triad of situs inversus, paranasal
sinusitis, and bronchiectasis.
• Congenitally corrected transposition of great arteries.
• The heterotaxy syndromes of asplenia and polysplenia.
Examiner: How would you manage this patient?
Candidate:
• Take a history of cardiac symptoms, chronic cough, or cardiac surgery in early life.
• Chest X-ray.
• Echocardiography.
• For the management of Kartagener’s syndrome, please see the section on
bronchiectasis.

Atrial fibrillation
Common instructions

•• This lady presented with two episodes of dizziness. Please examine her
cardiovascular system.
•• This lady complains of recurrent episodes of visual disturbances. Please examine her
cardiovascular system.

Common pitfalls
• Missing the presence of AF.
• Missing the features of hyperthyroidism as the cause of AF.
• Confusion regarding differentiating AF from multiple ventricular ectopic beats.
• Not considering transient ischaemic attacks in a patient with AF and recurrent
dizziness or arm numbness.

The typical presentation of the findings

Candidate 1: This lady has an irregularly irregular pulse with a rate of 80 beats per minute.
The heart sounds are irregular with variable intensity of first heart sound. She does
not have clinical evidence of valvular heart disease and she is not in HF. The diagnosis
is nonvalvular AF. I would like to complete my examination by assessing her thyroid
status, examine her neurological system and fundus (recurrent arm numbness/visual
disturbances), and ask about possible causes of AF.
Candidate 2: This lady has features of MS complicated by AF as evidenced by irregularly
irregular pulse with a rate of 90 beats per minute, loud S1, and a mid-diastolic rumbling
murmur grade II/VI heard over the mitral area. She has also signs of PHT with elevated
JVP and bilateral pitting oedema of the legs.
34 Part 2 Cardiovascular cases

Examiner: What are the causes of AF?

Candidate:
• M: Mitral stenosis.
• A: Alcohol.
• T: Thyrotoxicosis.
• C: CAD.
• H: Hypertension.
• S: Sleep apnoea.
Examiner: What simple bedside test differentiates AF from ventricular premature beats?
Candidate: Ask the patient to perform some exercise. Ventricular premature beats will
reduce in frequency with exercise but AF will not.
Examiner: What do you mean by paroxysmal AF, persistent AF, permanent AF, and lone
AF?
Candidate:
• Paroxysmal AF: It terminates spontaneously or by intervention within 7 days of onset.
• Persistent AF: AF that fails to terminate within 7 days.
• Permanent AF: AF that lasts for >1 year and cardioversion failed or not attempted.
• Lone AF: AF occurring in the absence of structural heart disease.
Examiner: How would you manage this patient?
Candidate:
Investigations:
• Perform ECG/Holter monitoring.
• Thyroid function test (TFT).
• CBC, RFT, blood sugar level/HbA1C.
• Echocardiography.
• MRI brain, if the patient comes with recurrent dizziness, arm numbness, or motor
weakness.
• Sleep study, if sleep apnoea is a possible cause.
Treatment:
• Treat the underlying cause, e.g. thyrotoxicosis, MS, or alcohol.
• Rate control with β-blockers, diltiazem, digoxin, or amiodarone.
• Rhythm control with amiodarone or flecainide.
• Anticoagulation with warfarin or the new oral anticoagulants (dabigatran, rivaroxaban,
or apixaban) – after assessment of the stroke risk and bleeding risk in nonvalvular AF.
• Cardioversion, if AF <48 hours and low-risk for stroke.
• AF ablation: Catheter ablation may be a suitable procedure in patients with AF and HF
to improve survival, reduce hospital admissions from HF, and improve LVEF.
• Maze procedure (surgical ablation): A maze is a pattern of scars or channels created
in the atria via radiofrequency energy. These scars will prevent the transmission of
electrical impulses that cause AF. It can achieve restoring sinus rhythm in about 90% of
cases. Maze procedure is considered, if a patient with AF is undergoing other surgical
cardiac procedures or if other treatment options to restore sinus rhythm fail.
Examiner: Does restoring sinus rhythm in a patient with AF reduce the risk of stroke?
Candidate: Multiple randomised controlled trials did not show improvement in survival
or reduction in the stroke risk by procedures that restore sinus rhythm. Therefore,
 Heart failure 35

it is recommended that patients who achieved restoring of sinus rhythm after these
procedures to continue on anticoagulation for at least 2 months and further risk
assessment of stroke risk to be made thereafter.
Examiner: Do you know any surgical procedure to treat AF in patients who are not
candidates for anticoagulation therapy?
Candidate:
Left atrial appendage percutaneous closure:
• It has been found that the majority of emboli that cause stroke in patients with non-
valvular AF originate in left atrial appendage.
• Left atrial appendage closure can be an alternative therapy to anticoagulation for
patients who are poor candidates for long-term oral anticoagulation (because of the
propensity for bleeding or poor drug tolerance or adherence).
• The most commonly used device is called the ‘Watchman device’.
Examiner: What is the risk of stroke in nonvalvular AF?
Candidate: Around 5% per year.
Examiner: How do you assess (predict) the risk of stroke in nonvalvular AF?
Candidate: Using the CHA 2DS2-Vasc score
C (CHF points 1), H (hypertension points 1), A 2 (age >75 points 2), D (Diabetes points 1), S
(stroke/TIA points 2), V (vascular disease ‘CAD, PVD’ points 1), A (age 65–74 points 1), Sc
(sex category female point 1).
Patients with AF and a score of 2 or more should be anticoagulated. Many patients
with a score of 1 should be considered for oral anticoagulation. Aspirin can be used, if
anticoagulation is declined.
Examiner: How do you assess the risk of bleeding in a patient with AF receiving
anticoagulation?
Candidate: The HAS-BLED score is used to assess the risk of bleeding in patients with AF.
The score is based on the presence of hypertension (systolic blood pressure >160 mmHg),
abnormal liver or renal function, history of stroke or bleeding, labile INRs, elderly age
(>65 years), use of drugs that promote bleeding, or alcohol excess. A score >3 indicates a
potentially high risk.

Heart failure
Common instructions

•• This gentleman complains of exertional breathlessness. Please examine the

cardiovascular system.

Common pitfalls
• Failure to elicit all signs of CHF.
• Failure to differentiate CHF from pure right heart failure.
36 Part 2 Cardiovascular cases

The typical presentation of the findings

This gentleman appears tachypnoeic at rest. He is using oxygen via nasal cannula at a
rate of 3 L/min. He has tachycardia of 110/min with a regular pulse. He is sitting upright,
which may suggest orthopnoea. His JVP is elevated with a positive hepatojugular reflex
and he has pitting oedema of the legs. Precordial examination revealed a displaced apex
beat with an S3 gallop rhythm. Lung examination revealed bibasilar fine crackles. His
physical examination is consistent with CHF. I would like to examine the abdomen for
ascites and measure his BP.
Examiner: What are the clinical signs of CHF?
Candidate:
• Tachypnoea.
• Orthopnoea (sitting upright and using >1 pillow).
• Tachycardia.
• Pulsus alternans: Alternating strong and weak pulse.
• Elevated JVP.
• Pitting leg oedema/sacral oedema.
• Displaced apex beat.
• S3 sound or gallop rhythm.
• Bibasilar crackles.
Examiner: What signs indicate pure right-sided HF?
Candidate:
• Leg and sacral oedema.
• Elevated JVP with positive hepatojugular reflex.
• Presence of Kussmaul’s sign.
• Large v waves suggesting tricuspid regurge.
• Parasternal heave.
• Systolic murmur left to the sternal border suggesting functional tricuspid regurge due
to right ventricular dilatation.
• Tender, pulsatile hepatomegaly due to congested hepatic veins.
• Leg and sacral oedema.
Examiner: What are the signs of pure left ventricular failure?
Candidate:
• Tachypnoea.
• Orthopnoea (sitting upright and using more than one pillow).
• Tachycardia.
• Pulsus alternans: Alternating strong and weak pulse.
• Displaced apex beat.
• S3 sound or gallop rhythm.
• Bibasilar crackles.
Examiner: What are the causes of CHF?
Candidate:
• Ischaemic heart disease.
• Hypertension.
• Valvular heart disease
• Myocarditis.
 Heart failure 37

• Infiltrative diseases (amyloidosis, sarcoidosis, and haemochromatosis).

• Toxic (alcohol, copper, lead, and cytotoxic drugs such as anthracyclines).
• Genetic (HCM, dilated cardiomyopathy, and muscular dystrophies).
• Hormonal (thyroid, acromegaly, and peripartum cardiomyopathy).
• Others (severe anaemia, sepsis, certain parasitic infestations, and HIV).

How would you manage this patient?

Candidate:
Investigations:
• Natriuretic peptides: B-type natriuretic peptide (BNP) >35 pg/mL and/or N-terminal
pro–B-type natriuretic peptide (NT-proBNP) >125 pg/mL.
• CBC and ferritin level: To look for anaemia and haemochromatosis.
• TFT: To look for hyper- or hypothyroidism.
• Glycated haemoglobin (HbA1c).
• Lipid profile.
• Electrocardiogram.
• Transthoracic echocardiography.
• Chest X-ray: Look for pulmonary congestion and exclude other causes of the patient’s
symptoms.
• Cardiac MRI: Particularly useful in the following conditions—
–– Myocardial fibrosis.
–– Myocarditis.
–– Amyloidosis, sarcoidosis, Chagas disease, and Fabry disease.
–– Dilated cardiomyopathy to distinguish between ischaemic and nonischaemic
myocardial damage.
–– Haemochromatosis.
–– In cases with nondiagnostic echocardiographic studies.
–– In patients with complex congenital heart diseases.
• Cardiac computed tomography (CT): To visualise the coronary anatomy in patients
with HF and suspected CAD.
• Noninvasive stress imaging (stress echocardiography, SPECT, and PET): May be
considered for the assessment of myocardial ischaemia in patients with HF and CAD.
• Coronary angiography: Recommended in patients with HF who suffer from angina
pectoris, patients with symptomatic ventricular arrhythmia or aborted cardiac arrest,
and in patients with HF and suspected ischaemic aetiology.
Treatment:
• Controlling risk factors such as smoking, diabetes mellitus (DM), HTN, and
dyslipidaemia.
• Statins: Recommended in patients with or at high-risk of CAD whether or not they have
LV systolic dysfunction.
• ACE inhibitor or angiotensin-receptor blocker (ARB): It should be used in all patients
with heart failure with reduced ejection fraction (HfrEF) unless contraindicated. They
reduce morbidity and mortality.
• Angiotensin receptor-neprilysin inhibitor (ARNi): A new class of drugs that combines an
ARB (valsartan) and a neprilysin (NEP) inhibitor (an enzyme that degrades natriuretic
peptides, bradykinin, adrenomedullin, and other vasoactive peptides) (sacubitril), and
has recently been shown to be superior to an ACE inhibitor (enalapril) in reducing the
risks of death and hospitalisations from HF.
38 Part 2 Cardiovascular cases

• Beta-blockers: Reduce mortality and morbidity in symptomatic patients with HfrEF.

Should be initiated in clinically stable patients. Postpone initiation in acute HF until
stabilised.
• Mineralocorticoid receptor antagonists/MRAs (spironolactone and eplerenone): Have
been shown to improve survival in patients with HfrEF and are recommended for the
treatment of every patient with HfrEF and LVEF ≤35%, unless contraindicated or not
tolerated.
• Ivabradine (If-channel blocker): Ivabradine slows the heart rate through inhibition of
the If-channel in the sinus node. It should only be used for patients in sinus rhythm.
It reduces the elevated heart rate that is often seen in HfrEF. It has also been shown to
reduce the risk of HF hospitalisation or cardiovascular death in symptomatic patients
with LVEF ≤35%, in sinus rhythm and a resting heart rate ≥70 bpm despite treatment
with an evidence-based dose of β-blocker.
• Diuretics: To improve symptoms.
• Other medications:
–– Hydralazine and isosorbide dinitrate: Should be considered in—
■■ Black patients with LVEF <35%.
■■ LVEF <45% combined with dilated LV in NYHA class III-IV despite
treatment with an ACE-I, a β-blocker, and an MRA to reduce the risk of HF
hospitalisation and death.
–– Digoxin: May be considered in symptomatic patients in sinus rhythm despite
treatment with an ACE inhibitor (or ARB), a β-blocker and an MRA, to reduce the
risk of hospitalisation (both all-cause and HF-hospitalisations).
Examiner: What is the normal LVEF?
Candidate:
• Normal LVEF: ≥50%.
• Reduced LVEF: <40%.
• Mid-range LVEF: 40–49%.
Examiner: What conditions, other than HF, cause elevated natriuretic peptide levels?
Candidate:
• Old age.
• Severe anaemia.
• Atrial fibrillation.
• Renal failure.
• Pulmonary diseases such as obstructive sleep apnoea, PHT, and severe pneumonia.
• Severe sepsis.
Examiner: What conditions cause false low natriuretic peptide?
Candidate: Morbid obesity may be associated with lower natriuretic peptide
concentrations even in patients with CHF. Heart failure with preserved ejection fraction
(HfpEF) may also be associated with lower natriuretic peptide concentrations.
Examiner: How common is HfpEF and what are the causes/risk factors of HfpEF?
Candidate: HfpEF accounts for up to 50% of all clinical presentations of HF.
• The most common cause is the stiff ventricle from long-standing HTN.
• Severe AS.
• Obesity.
 A patient with pulmonary hypertension 39

• Obstructive sleep apnoea.

• Ageing.
• Diabetes.
Examiner: How HfpEF may differ from HfrEF concerning BNP?
Candidate: Due to lower end-diastolic wall stress in HfpEF, BNP levels in patients with
HfpEF may be lower than those of patients with HfrEF. In asymptomatic patients with
HfpEF, the BNP levels may be even normal. Therefore, a normal B-type natriuretic peptide
does not exclude the diagnosis of HfpEF.
Examiner: How would you diagnose HfpEF?
Candidate: The diagnosis of HfpEF can be challenging. There is no single test to diagnose
it. The presence of symptoms and signs of HF with normal LVEF >50%, elevated BNP and
echocardiographic findings are used to diagnose HfpEF. The ratio between the early
diastolic filling velocity (e wave) and atrial systolic wave velocity (a wave) is a useful
parameter to determine diastolic function. There are distinct patterns of e and a waves
depending on the degree of left ventricular diastolic dysfunction.
Examiner: How does the management of HfpEF differ from that of HfrEF?
Candidate:
• ACE inhibitors, ARBs, β-blockers, and aldosterone antagonists, which are effective in
HfrEF, have failed to show significant benefits in patients with HfpEF.
• Diuretics: Can be used to reduce congestion and improve symptoms.
• Low-dose spironolactone: Recommended to reduce hospital admission.
• Control risk factors such as HTN, obesity, obstructive sleep apnoea, and diabetes.
• Salt reduction.

A patient with pulmonary

hypertension
Common instructions

•• This woman complains of dyspnoea and fatigue for the last 3 months. Please
examine her cardiovascular system to find the reason behind her symptoms.

Common pitfalls
• Misdiagnosing PHT and right HF as CHF.
• Failure to observe clinical signs that indicate the underlying cause such as signs of
systemic sclerosis, morbid obesity, signs of obstructive sleep apnoea, cor pulmonale
from lung diseases or systemic signs of sarcoidosis.
• Misdiagnosing tricuspid regurgitation resulting from PHT as MR.
• Missing the presence of pulsatile hepatomegaly when examining for JVP.
40 Part 2 Cardiovascular cases

The typical presentation of the findings

This pleasant woman has markedly elevated JVP with a prominent v wave and bilateral
gross pitting oedema. Her precordial examination revealed a parasternal heave, a loud
P2 that is palpable with a wide splitting of the second heart sound, and a pansystolic
murmur that is best heard in the tricuspid area and increases with inspiration suggestive
of tricuspid regurgitation. Her lung examination revealed signs of bilateral pleural
effusion but no crackles. I could also find telangiectasia over her chest, digital ulceration,
and sclerodactyly. The clinical picture is consistent with pulmonary HTN with right-sided
HF most likely secondary to systemic sclerosis. I would like to examine her abdomen for
ascites and pulsatile hepatomegaly.
Examiner: How would you define PHT?
Candidate: The PHT is defined as a mean pulmonary arterial pressure (PAPm) ≥25 mmHg
at rest as assessed by right heart catheterisation.
Examiner: How would you classify/what are the causes of PHT?
Candidate: PHT is classified into five groups according to their similar clinical
presentation, pathological findings, haemodynamic characteristics, and treatment
strategy.
Mnemonic: ‘ARTERIAL, HEART and LUNG THROMBI are MULTIFACTORIAL’
• Pulmonary arterial hypertension:
–– Idiopathic.
–– Heritable.
–– Drugs/toxins (e.g. fenfluramine, toxic rapeseed oil, amphetamines, cocaine,
chemotherapeutic agents, etc.).
–– Connective tissue disease.
–– Human immunodeficiency virus.
–– Portal HTN.
–– Congenital heart disease.
–– Schistosomiasis.
• PHT due to left heart disease:
–– Left ventricular systolic dysfunction.
–– Left ventricular diastolic dysfunction.
–– Valvular disease.
–– Congenital/acquired inflow or outflow left heart tract obstruction or congenital
cardiomyopathies.
–– Congenital/acquired pulmonary veins stenosis
• PHT due to lung diseases and/or hypoxia:
–– Chronic obstructive pulmonary disease (COPD).
–– Interstitial lung disease.
–– Other pulmonary diseases with a mixed restrictive and obstructive pattern.
–– Sleep-disordered breathing.
–– Alveolar hypoventilation disorders.
–– Chronic exposure to high altitude.
–– Developmental lung diseases.
• Chronic thromboembolic PHT and other pulmonary artery obstructions:
–– Chronic thromboembolic PHT.
–– Other pulmonary artery obstructions.
 A patient with pulmonary hypertension 41

–– Angiosarcoma.
–– Other intravascular tumours.
–– Arteritis.
–– Congenital pulmonary arteries stenosis.
–– Parasites (hydatidosis).
• PHT with unclear and/or multifactorial mechanisms:
–– Haematological disorders (chronic haemolytic anaemia).
–– Myeloproliferative disorders and splenectomy.
–– Systemic disorders (sarcoidosis and pulmonary histiocytosis).
–– Lymphangioleiomyomatosis and neurofibromatosis.
–– Metabolic disorders (glycogen storage disease, Gaucher’s disease, and thyroid
disorders).
–– Others [pulmonary tumoral thrombotic microangiopathy, fibrosing mediastinitis,
chronic renal failure (with/without dialysis), and segmental PHT].
Examiner: How would you differentiate jugular venous pulsations from arterial
pulsations?
Candidate:
• Jugular venous pulsations are double waved (a and v waves).
• Jugular venous pulsations are easily seen than palpable.
• Jugular venous pulsations can be obliterated by applying pressure.
• Jugular venous pulsations reduced during inspiration (one exception is the Kussmaul’s
sign characteristically seen in constrictive pericarditis where the JVP is paradoxically
elevated during inspiration).
• Positive hepatojugular reflux.
Examiner: Why do we prefer the right internal jugular vein (not the left or the external
jugular veins) for checking the JVP?
Candidate: Because the right internal jugular vein is the only vein that lies in direct
communication with the superior vena cava.
Examiner: What does it mean if the JVP is elevated?
Candidate: JVP reflects the right atrial pressure.
Examiner: What is the mechanism of hepatojugular reflux?
Candidate: Hepatojugular reflux is performed by pressing the abdomen for 10 seconds.
This causes an increase in the venous return to the heart. In normal people, there is only
transient rise in the JVP after this manoeuvre. In patients with right ventricular failure,
there will be a prominent rise in the JVP for 10 seconds or more that will be followed by
abrupt decline once the pressure is released.
Examiner: In which condition does the 'v' wave of the JVP becomes prominent?
Candidate: The ‘a’ wave is due to atrial contraction and the ‘v’ wave is due to atrial filling
(venous filling) when the tricuspid valve is closed and, hence, it increases if there is
tricuspid regurgitation.
Examiner: Can you tell the anatomical landmarks for the internal jugular vein?
Candidate: The internal jugular vein lies lateral to the carotid artery and behind the
sternocleidomastoid muscle (Figure 2.14).
42 Part 2 Cardiovascular cases

Figure 2.14 Internal jugular vein position in the neck.

EJV IJV
ICA

Examiner: How would you investigate a patient with PHT?

Candidate:
• Echocardiography:
–– To estimate PAP.
–– To look for evidence of left heart disease as a cause of PHT.
–– To assess the right ventricular size.
• Chest X-ray/CT:
–– Look for signs of ILD/other lung diseases.
• Pulmonary function test (PFT) including arterial blood gas (ABG) and diffusing capacity
for carbon monoxide (DLCO):
–– Look for hypoxaemia.
–– Look for COPD.
• Polysomnography:
–– To look for obstructive sleep apnoea.
• Ventilation/perfusion lung scan:
–– To look for evidence of chronic thromboembolic pulmonary hypertension
(CTEPH) – has higher sensitivity than computed tomography pulmonary
angiography (CTPA) in cases of CTEPH.
• Abdominal ultrasound scan:
–– To look for evidence of portal hypertension and liver disease.
• Blood tests:
–– CBC: Haemolytic anaemia.
–– Haemoglobin electrophoresis.
–– Renal function test (RFT).
–– Liver function test (LFT).
–– Thyroid function test.
–– Autoimmune work-up for CT diseases.
 A patient with implanted cardiac device 43

–– Antiphospholipid antibodies, anticardiolipin antibodies, and lupus anticoagulant.

–– Hepatitis serology.
–– HIV testing.
–– Schistosoma antibody titre.
• Right heart catheterisation and vasoreactivity to identify patients suitable for high-dose
calcium channel blocker treatment.
• Six-minute walking test (6MWT) and cardiopulmonary exercise testing.
Examiner: What advice would you provide this patient regarding pregnancy?
Candidate: Women with pulmonary arterial hypertension (Group I) are recommended to
avoid pregnancy.
Examiner: Can you name some medications that are used in treating patients with
pulmonary arterial hypertension?
Candidate:
General therapies:
• High-dose calcium channel blockers in patients with significant vasoreactivity.
• Oral anticoagulation for idiopathic arterial PHT.
• O2 therapy.
• Diuretics.
Specific therapies:
• Endothelin receptor antagonists (bosentan/ambrisentan).
• Phosphodiesterase type 5 inhibitors (sildenafil).
• Prostacyclin analogues and prostacyclin receptor agonists (epoprostenol/iloprost/
selexipag).
Surgical therapy:
• Balloon atrial septostomy.
• Heart–lung and double-lung transplantation.

A patient with implanted cardiac

device
Common instructions

•• This gentleman was recently discharged from the cardiac unit. Please examine his
cardiovascular system.
•• This lady sustained an acute myocardial infarction 3 months ago. Please examine her
cardiovascular system.

Common pitfalls
• Failure to observe the implanted device (Figure 2.7).
• Failure to differentiate types of implanted cardiac devices.
44 Part 2 Cardiovascular cases

The typical presentation of the findings

This pleasant lady has an implanted cardiac device in the left infraclavicular area.
Physical examination revealed signs of HF in the form of displaced apex beat, bilateral
basal crackles, and mild pitting oedema. Given the history of her recent myocardial
infarction, most likely she has an ICD.

Different implantable cardiac devices

• Permanent pacemaker.
• Implantable cardioverter-defibrillator.
• Cardiac resynchronisation therapy (CRT).
• Left ventricular assist device (LVAD) (Figure 2.15).
On physical examination, LVAD can be easily differentiated from the other three devices.
However, it may be difficult for candidates to differentiate between cardiac pacemaker,
ICD, and CRT on physical examination alone as they all can have the same size and
usually implanted underneath the clavicle (Figure 2.7). A chest X-ray may be required
to differentiate between these three devices. The position of the leads, the presence of
defibrillator shock coil at the end of the lead (ICD), and the number of the leads (CRT
has three or more leads for pacing, cardioversion, and synchronisation) can help in
differentiation.
Examiner: What are the indications for a permanent pacemaker?
Candidate: A permanent pacemaker is indicated in patients with the following types of
heart block if not attributable to reversible or physiologic causes:
• Second-degree Mobitz type II atrioventricular block.
• High-grade atrioventricular block.
• Third-degree atrioventricular block.
Examiner: What are the indications for ICD in patients with HF?

Figure 2.15 Left ventricular assist device (LVAD).

 A patient with implanted cardiac device 45

Candidate: The ICD is recommended in patients who are at risk of ventricular fibrillation
as following:
• Secondary prevention: In patients who have recovered from a ventricular arrhythmia
and who are expected to survive for >1 year.
• Primary prevention: Symptomatic HF (NYHA class II-III) with LVEF ≤35% due to
ischaemia or dilated cardiomyopathy despite being on optimal medical therapy for
>3 months (i.e. if optimal medical therapy cannot increase the LVEF).
• In all the above settings, ICD should not be implanted within 40 days after a myocardial
infarction because of the high-risk of complications during this period.
Most of the recently manufactured ICDs can perform both functions of cardioversion and
pacing (i.e. they treat both dangerous bradyarrhythmias and tachyarrhythmias).
Examiner: What are the indications for CRT implantation in patients with HF?
Candidate: Cardiac resynchronisation therapy usually performs the three functions of
pacing, cardioversion, and cardiac synchronisation. Usually, it has three or more leads in
the heart. It is indicated in:
• Symptomatic patients with LVEF <35% and QRS >130 ms despite optimal medical
therapy.
• Left bundle branch block (LBBB) with QRS ≥150 ms with NYHA II-IV.
Examiner: What are the indications of LVAD?
Candidate: Left ventricular assist device is a pump device that connects the left ventricle
and the aorta to help to pump the blood from the left ventricle to the body when medical
therapy fails to improve heart function in patients with severe HF (NYHA IV or EF <25%).
Indications are:
• Temporary, bridge-to-transplant.
• Recently, as destination therapy (potentially a durable, lifelong alternative to heart
transplant).
Left ventricular assist device improves both the quality of life and survival in these
patients.
Examiner: How would you differentiate LVAD from other implantable cardiac devices?
Candidate:
• Presence of sternotomy or thoracotomy scar.
• Presence of the driveline.
• The patient carries the batteries in the attached bags (Figure 2.15).
Examiner: What are the complications associated with LVAD?
Candidate:
• Right heart failure.
• Pump thrombosis.
• Driveline infection.
• Stroke.
• Aortic regurgitation.
• Gastrointestinal bleeding.
46 Part 2 Cardiovascular cases

Infective endocarditis
Common instructions

•• This gentleman complains of breathlessness. Please examine his cardiovascular

system.
•• This gentleman complains of right arm weakness. Please examine his cardiovascular
system.
•• This gentleman has acute kidney injury. Please examine his cardiovascular system.

Common pitfalls
• Missing the signs of IE in patients with valvular lesions (Figure 2.2).
• Failure to recognise the presence of stroke in a patient with IE.
• Forgetting the complications of IE such as glomerulonephritis and stroke.

The typical presentation of the findings

This gentleman appears comfortable and not in distress. He has loud S1 with mid-
diastolic rumbling murmur best heard over the mitral area, increased by left lateral tilt. I
could find also some signs suggestive of IE including splinter haemorrhages and Osler’s
nodes. He is not in HF. My diagnosis is MS complicated by IE. I would like to complete my
examination by performing a fundoscopic examination looking for Roth’s spots.
Examiner: What are the signs of IE? And what are the mechanisms behind them?
Candidate:
• Splinter haemorrhages (vascular phenomenon ‘septic emboli’) (Figure 2.2).
• Janeway lesions (vascular phenomenon ‘septic emboli’).
• Roth spots (immune complex phenomenon).
• Osler’s nodes (immune complex phenomenon).
• Finger clubbing (Figure 2.2).
Examiner: What organisms cause IE?
Candidate:
• Streptococcus viridans.
• Staphylococcus aureus.
• Staphylococcus epidermidis.
• Enterococcus.
• HACEK group (Haemophilus parainfluenzae and aphrophilus, Actinobacillus,
Cardiobacterium, Eikenella, and Kingella).
Examiner: What are the causes of culture-negative endocarditis?
Candidate:
• Certain organisms:
–– HACEK group.
–– Bartonella.
–– Coxiella.
–– Chlamydia.
 Infective endocarditis 47

–– Legionella.
–– Brucella.
• Prior antibiotic use.
• Fungal endocarditis.
Examiner: What is the significance of growing Streptococcus bovis in a blood culture?
Candidate: There is a significant association between the presence of Streptococcus bovis
endocarditis and colonic neoplasia.
Examiner: How do you collect blood cultures in suspected endocarditis?
Candidate:
• They should be collected before antibiotic use unless the patient is severely ill.
• Use strict sterile technique.
• The minimum number of cultures – 3.
• The minimum amount of blood for each culture is 10 mL.
• Should be from separate veins.
• Should be at different times.
• Not necessarily during the fever.
Examiner: What are the criteria used to diagnose IE?
Candidate: The modified Duke criteria – two major and five minor criteria. The major
criteria depend on the blood culture findings and evidence of endocardial involvement.
The minor criteria involve the presence of a predisposing heart condition, fever, vascular
phenomenon, immunological phenomena, or a positive culture that does not meet major
criteria.
• Definite IE: Two major, one major, and three minor or five minor.
• Possible IE: One major and one minor or three minor.
Examiner: What are the complications of IE?
Candidate:
• Local complications:
–– Valve abscess.
–– Heart failure.
–– Valve dysfunction and destruction.
• Systemic complications:
–– Systemic embolisation leading to stroke, cerebral abscesses, septic pulmonary
emboli, disseminated abscesses in other organs, and mycotic aneurysms.
–– Immune complex phenomena: Glomerulonephritis, Osler’s nodes, and Roth spots.
–– Severe sepsis or septic shock.
Examiner: What do you mean by mycotic aneurysms?
Candidate: Mycotic aneurysms result from septic embolisation into the wall of the blood
vessels. It can occur anywhere in the body but intracranial vessels are the most frequently
involved with a poor prognosis.
Examiner: What is the sensitivity of transthoracic and transesophageal echocardiography
in diagnosing IE?
Candidate:
• The sensitivity of TTE is about 60%.
• The sensitivity of TEE >90%.
48 Part 2 Cardiovascular cases

Examiner: What are the poor prognostic factors in IE?

Candidate:
• Old age.
• Diabetes.
• Prosthetic valve IE.
• Presence of complications from IE.
• Staphylococcal IE.
• Fungal IE.
• Large vegetations on echocardiography.
Examiner: What is the usual duration of therapy in IE?
Candidate: 4–6 weeks
Examiner: What are the indications for surgery in IE?
Candidate:
• Refractory HF or cardiogenic shock.
• Uncontrolled infection such as abscess formation, fistula, or enlarging vegetation
despite treatment.
• Prosthetic valve IE.
• Fungal IE.
• Multidrug-resistant organism.
• Persistent fever and positive blood culture after 7–10 days.
• Large vegetation >10 mm with systemic embolisation.
• Very large vegetation >15 mm.
Examiner: Can endocarditis occur due to noninfectious causes?
Candidate: Yes, vegetations on valves can occur due to other noninfectious conditions.
This is called ‘nonbacterial thrombotic endocarditis or Marantic endocarditis’. The causes
are:
• Malignancies.
• Libman–Sack’s endocarditis of SLE.
• Hypercoagulable states.
Examiner: What features differentiate Marantic endocarditis from IE?
Candidate: Absence of fever and leucocytosis, absence of heart murmur, and the small
size of the vegetations on echocardiography.
Examiner: How would you manage this patient?
Candidate:
• CBC, CRP, ESR, and RFT.
• Blood cultures (minimum 3).
• Echocardiography (TEE better than TTE).
• IV antibiotics (initially empiric combination, e.g. ampicillin and gentamicin or
vancomycin, gentamicin and ciprofloxacin and then guided by culture result).
• Surgery as mentioned above.
• Colonoscopy, if blood culture grows Streptococcus bovis.
Examiner: What are the indications for antibiotic prophylaxis against IE in patients with
valvular heart disease?
 Further reading 49

Candidate: Indications of antibiotic prophylaxis depend on the type of valvular heart

disease and the type of surgical procedure.
High-risk patients that need prophylaxis are:
• Patients with prosthetic heart valves.
• If prosthetic material was used for cardiac valve repair.
• Patients with a previous IE.
• Cardiac transplant recipients with an abnormal valve.
• Congenital heart disease patients:
–– Any patient with cyanotic congenital heart disease.
–– Repaired congenital heart disease with residual defects adjacent to the prosthetic
device or repaired congenital heart defect with prosthetic material placed during
surgery (only for the first 6 months after surgery).
Procedures that require prophylaxis in the high-risk patients are:
• Dental procedures requiring the manipulation of the gingival, periapical region, or
perforation of the mucosa.
• Respiratory procedures that involve incision and biopsy of mucosa: such as
tonsillectomy, adenoidectomy, empyaema drainage, and bronchoscopy with biopsy
(American but not European guidelines)
• Skin surgery (American but not European guidelines).
Remember: The following procedures are not indications for antibiotic prophylaxis:
• Bronchoscopy.
• Laryngoscopy.
• Endobronchial intubation.
• Gastroscopy.
• Colonoscopy.
• Cystoscopy.
• Vaginal or caesarean delivery.
• European guidelines – all skin procedures are not indicated.
Examiner: Is prophylaxis needed before gastrointestinal or genitourinary procedures?
Candidate: No
Examiner: What antibiotic would you use as prophylaxis for invasive dental procedures?
Candidate:
• Amoxicillin or ampicillin 2 g orally or IV.
• Clindamycin 600 mg orally or IV, if allergic to penicillin.

Further reading
Asopa S, Patel A, Khan O, Sharma R, Ohri SK. Non-bacterial thrombotic endocarditis. Eur J Cardiothorac Surg
2007; 32:696–701.
Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC guidelines on diagnosis and management of hypertrophic
cardiomyopathy: The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of
the European Society of Cardiology (ESC). Eur Heart J 2014; 35:2733–2779.
Galiè N, Humbert M, Vachiery JL, et al. “2015 ESC/ERS guidelines for the diagnosis and treatment of pulmonary
hypertension. The joint task force for the diagnosis and treatment of pulmonary hypertension of the
European Society of Cardiology (ESC) and the European Respiratory Society (ERS).” Eur Respir J 2015;
46:1855–1856.
50 Part 2 Cardiovascular cases

Giles TD, Martinez EC, Burch GE. Gallavardin phenomenon in aortic stenosis: A possible mechanism. Arch Intern
Med 1974; 134:747–749.
Habib G, Hoen B, Tornos P, et al. Guidelines on the prevention, diagnosis, and treatment of infective
endocarditis (new version 2009). Eur Heart J 2009; 30:2369–2413.
Habib G, Lancellotti P, Antunes MJ, et al. 2015 ESC Guidelines for the management of infective endocarditis:
The Task Force for the Management of Infective Endocarditis of the European Society of Cardiology (ESC).
Endorsed by: European Association for Cardio-Thoracic Surgery (EACTS), the European Association of
Nuclear Medicine (EANM). Eur Heart J 2015; 36:3075–3128.
Han JJ, Acker M, Atluri P. Left ventricular assist devices. Synergistic model between technology and medicine.
Circulation 2018; 138:2841–2851.
Harrison J, Prendergast B and Habib G. The European Society of cardiology 2009 guidelines on prevention,
diagnosis, and treatment of infective endocarditis: key messages for clinical practice. Pol Arch Med Wewn
2009; 119:773–776.
January CT, Wann LS, Alpert JS, et al. 2014 AHA/ACC/HRS guideline for the management of patients with
atrial fibrillation: a report of the American College of Cardiology/American Heart Association task force on
practice guidelines and the Heart Rhythm Society. J Am Coll Cardiol 2014; 64:e1–e76.
January CT, Wann LS, Calkins H, et al. 2019 AHA/ACC/HRS focused update of the 2014 AHA/ACC/HRS guideline
for the management of patients with atrial fibrillation: A report of the American College of Cardiology/
American Heart Association task force on clinical practice guidelines and the Heart Rhythm Society in
collaboration with the Society of Thoracic Surgeons. Circulation 2019; 140:e125–e151.
Joint Task Force on the Management of Valvular Heart Disease of the European Society of Cardiology (ESC);
European Association for Cardio-Thoracic Surgery (EACTS), Vahanian A, Alfieri O, Andreotti F, Antunes MJ, et
al. Guidelines on the management of valvular heart disease (version 2012). Eur Heart J. 2012; 33:2451–2496.
Krishnan S, Eslick GD. Streptococcus bovis infection and colorectal neoplasia: a meta-analysis. Colorectal Dis
2014; 16:672–680.
Kusumoto F, Schoenfeld M, Barret C, et al. 2018 ACC/AHA/HRS Guideline on the evaluation and management
of patients with bradycardia and cardiac conduction delay: executive Summary: areport of the American
College of Cardiology/American Heart Association task force on clinical practice guidelines, and the Heart
Rhythm Society. J Am Coll Cardiol 2019; 74:932–987.
Li JS, Sexton DJ, Mick N, et al. Proposed modifications to the Duke criteria for the diagnosis of infective
endocarditis. Clin Infect Dis 2000; 30:633–638.
Lip GY, Nieuwlaat R, Pisters R, Lane DA, Crijns HJ. Refining clinical risk stratification for predicting stroke and
thromboembolism in atrial fibrillation using a novel risk factor-based approach: the euro heart survey on
atrial fibrillation. Chest 2010; 137:263–272.
Naing P, Forrester D, Kangaharan N, et al. Heart failure with preserved ejection fraction: A growing global
epidemic. Aust J Gen Pract 2019; 48:465–471.
Nishimura RA, Otto CM, Bonow RO, et al. 2014 AHA/ACC guidelines for the management of patients with
valvular heart disease: a report of the American College of Cardiology/American Heart Association task
force on practice guidelines. J Thorac Cardiovasc Surg 2014; 148:e1–e132.
Ponikowski P, Voors AA, Anker SD, et al. 2016 ESC guidelines for the diagnosis and treatment of acute and
chronic heart failure: The task force for the diagnosis and treatment of acute and chronic heart failure of
the European Society of Cardiology (ESC). Developed with the special contribution of the Heart Failure
Association (HFA) of the ESC. Eur J Heart Fail 2016; 18:891–975.
Prystowsky EN, Padanilam BJ, Fogel RI. Treatment of atrial fibrillation. JAMA 2015; 314:278–288.
Puskas J, Gerdisch M, Nichols D, et al. Reduced anticoagulation after mechanical aortic valve replacement:
interim results from the prospective randomized On-X valve anticoagulation clinical trial randomized Food
and Drug Administration investigational device exemption trial. J Thorac Cardiovasc Surg 2014; 147:1202–
1210.
Unger P, Pibarot P, Tribouilloy C, et al. Multiple and mixed valvular heart diseases. Circ Cardiovasc Imaging 2018;
11:e007862.
Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA2008guidelines for the management of adults with
congenital heart disease: a report of the American College of Cardiology/American Heart Association task
force on practice guidelines. Circulation 2008; 118:e714–833.
Wilson W, Taubert KA, Gewitz M, et al. Prevention of infective endocarditis: guidelines from the American Heart
Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki
 Further reading 51

Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology,
Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research
Interdisciplinary Working Group. Circulation 2007; 116:1736–1754.
Yancy CW, Jessup M, Bozkurt B, et al. 2017 ACC/AHA/HFSA focused update of the 2013 ACCF/AHA guideline
for the management of heart failure: A report of the American College of Cardiology/American Heart
Association task force on clinical practice guidelines and the Heart Failure Society of America. J Card Fail
2017; 23:628–651.
 Part 3
Respiratory cases

How to examine the respiratory system?

• Wash your hands.
• Shake hands with the patient, introduce yourself, and take permission.
• Position the patient at a 45° angle and request him/her to remove the upper clothes.
• Inform the patient to alert you in case you cause any discomfort or pain to him/her
during the examination.
• Start by inspecting the patient and the surrounding:
–– Surrounding:
■■ Pay particular attention to the use of oxygen, noninvasive ventilation
machines, ongoing intravenous infusion, and sputum pot.
–– Careful inspection of the patient for:
■■ Signs of respiratory distress and use of accessory muscles of respiration.
■■ Observe for the presence of cachexia [malignancy, chronic obstructive
pulmonary disease (COPD), or tuberculosis (TB)].
■■ Features of Cushing’s syndrome due to chronic steroid use for chronic lung
diseases such as interstitial lung diseases (ILDs) and severe asthma are
frequently missed by candidates in clinical examinations.
■■ Facial features of scleroderma, systemic lupus erythematosus (SLE), or sarcoid
lesions.
■■ A patient who cannot move his/her neck during examination might have
ankylosing spondylitis with apical lung fibrosis.
• Presence of hoarseness of voice while talking to the patient or Horner’s syndrome when
looking at the patient’s face can be easily missed during chest examination. These two
signs can point to lung cancer as the underlying diagnosis.
• Hold the patient’s hand, put your fingers over the radial pulse, and pretend to count the
pulse while counting the respiratory rate to distract the patient’s attention.
• Hand examination can provide important clues about the underlying diagnosis:
–– Nicotine stains may suggest COPD or cancer lung.
–– Finger clubbing may point to lung cancer, bronchiectasis, or interstitial lung
disease (ILD).
–– Palmar erythema and flapping tremor may suggest CO2 retention.
–– The presence of rheumatoid hand deformities suggests rheumatoid lung disease.
–– Tight skin and fingertip ulcerations suggest scleroderma lung disease.
–– Asymmetric wasting of the small muscles of one hand may suggest a Pancoast
tumour compressing the brachial plexus (Figure 3.1).
• During the eye examination, look for the following features:
–– Horner’s syndrome such as ptosis, meiosis, and enophthalmos that may suggest a
Pancoast lesion.
–– Conjunctival pallor.
–– Presence of episcleritis (may suggest rheumatoid) or uveitis (ankylosing spondylitis).
54 Part 3 Respiratory cases

Figure 3.1 Unilateral small muscle wasting in the hand

may suggest a Pancoast lesion.

• Examine the mouth for cyanosis (remember that the best place to look for cyanosis
is the ventral aspect of the tongue – some examiners may become irritated, if the
candidate does not ask the patient to lift the tongue up when looking for cyanosis).
• Examine the neck for lymphadenopathy.
• Examine the jugular venous pressure (JVP) (cor pulmonale).
• Examine the legs for pitting oedema (can be left till the end but should not be
forgotten). Remember when examining for pitting oedema to enquire from the patient
about leg pain before pressing over the legs and to direct your face towards the patient
for tenderness rather than towards the examiner.
• Move to the chest and follow the four steps of chest examination – inspection,
palpation, percussion, and auscultation.
• Inspection:
–– Look for chest deformities such as pectus excavatum and carinatum or
kyphoscoliosis (Figures 2.3 and 2.4: Part 2).
–– Asymmetry of the chest is an important sign that is easily missed by candidates
and may suggest an underlying collapse, fibrosis, a large effusion or lung surgery
(Figure 3.2).
–– The intercostal recession during inspiration and use of accessory muscles.
–– Some patients with cystic fibrosis (CF) or lung cancer may have long-lasting
venous catheters (Hickman’s line, PICC, Port, etc.) for repeated administration of
antibiotics or chemotherapy (Figure 3.3).
–– The presence of dilated veins over the chest may suggest superior vena cava (SVC)
obstruction.
–– Scars in the chest wall can give an important clue about the diagnosis. A
thoracotomy scar may suggest a prior lung resection. A scar of chest drain may
suggest pleural effusion as a possible diagnosis (Figure 3.4).
–– The presence of radiation-related skin changes may point to lung cancer as a
diagnostic possibility.
• There are four things you need to palpate for during chest examination:
1. Chest expansion.
2. Tactile vocal fremitus.
 How to examine the respiratory system? 55

Figure 3.2 Asymmetry of the chest and left

thoracotomy scar from a previous lobectomy of the
left lung.

Figure 3.3 Port line used for chemotherapy or

prolonged antibiotic administration.

3. Position of the trachea.

4. Apex beat.
• During percussion of the chest, always compare the right and left side at the same level
and listen to any difference in the note (Figures 3.5a and b).
• If you find dullness at one lung base, do not forget to perform tidal percussion.
• During auscultation, concentrate on the following:
–– Type and intensity of breath sounds. They should be of equal intensity on both
sides and should be vesicular over the lungs.
–– Next, listen for any adventitial sounds such as crackles, rhonchi, or pleural rub. If
you find crackles, ask the patient to cough and notice the change in the quality of
crackles.
–– Do not forget to listen for vocal resonance; it is more reliable than vocal fremitus.
–– If you find a dull percussion note (particularly with bronchial breathing), check
for aegophony and whispering pectoriloquy to make sure you do not miss
consolidation.
56 Part 3 Respiratory cases

Figure 3.4 Left thoracotomy scar with chest

drain scars.

a b

Figures 3.5a and b Sites for chest percussion.

• It is important to make the patient feels comfortable during chest examination from the
back. A good candidate may provide his/her patient with a pillow to rest arms on while
examining the back of the chest.
• Do not forget to percuss and auscultate the lateral sides of the chest and make sure you
know the surface anatomy of the lung lobes (Figures 3.6a to c).
 Bilateral basal crackles with or without finger clubbing 57

D2

Upper lobe Upper lobe Upper

Upper
4th rib
MCL
Middle
6th rib
MCL Lower
5th
Lower
Lower lobe Lower lobe Rib

a b

Figures 3.6a to c Surface anatomy of the lung lobes.

Upper lobe

4th rib

Middle lobe

Lower lobe 6th rib

Bilateral basal crackles with or without finger clubbing

• Bilateral basal crackles and finger clubbing are one of the most common respiratory
cases encountered in both under- and postgraduate clinical examinations. The most
common scenarios are:
–– Bronchiectasis:
In bronchiectasis, the crackles are coarse and altered by coughing. Finger clubbing
is typically present but may not be found in all cases. The type of crackles is the
most important differentiating sign from ILD. (If the patient is young, think of
causes of bronchiectasis in young people such as CF, hypogammaglobulinaemia,
childhood infections, and Kartagener’s syndrome.).
–– Interstitial lung diseases:
The crackles are typically fine and have a Velcro character (some candidates may
misdiagnose the cause as heart failure). You must know the causes of ILD in older
individuals and young individuals. Many candidates wrongly mention idiopathic
pulmonary fibrosis (IPF) as an initial diagnosis in young patients with ILD.
• Bilateral fine crackles with clubbing in an older patient are commonly due to idiopathic
pulmonary fibrosis (consider also chronic hypersensitivity pneumonitis).
• Bilateral fine crackles with hand deformities: Pulmonary fibrosis secondary to
rheumatoid arthritis (RA).
• Bilateral crackles with signs of scleroderma: Scleroderma lung disease.
58 Part 3 Respiratory cases

A patient with interstitial lung

disease
Common instructions

•• This 65-year-old gentleman complains of cough and exertional breathlessness.

Please examine his respiratory system.
•• This 30-year-old gentleman complains of cough and exertional breathlessness.
Please examine his respiratory system.

Common pitfalls
• Misdiagnosing ILD as bronchiectasis.
• Failure to see Hickman line/implanted ports for long-term antibiotic administration in
cystic fibrosis (CF).
• Diagnosing IPF in a young patient.
• Forgetting the causes of ILD in young patients.
• Failure to spot clinical features suggestive of scleroderma or RA in patients with ILD.

The typical presentations of the findings

Candidate 1: This gentleman appears comfortable and not in distress. He appears thin
and has finger clubbing and bilateral basal fine inspiratory crackles of the Velcro type. The
crackles are not altered by coughing. The most likely diagnosis is ILD. The most common
cause at this age is IPF.
Candidate 2: This young gentleman has finger clubbing and bilateral fine inspiratory
crackles. The most likely diagnosis is ILD. At this younger age, I will think of
hypersensitivity pneumonitis, connective tissue diseases, drugs, etc. (see below).
Examiner: Can you name some of the causes of ILD?
Candidate:
• IPF/cryptogenic fibrosing alveolitis: The most common in the older age group (Figure 3.7).
• Chronic hypersensitivity pneumonitis (extrinsic allergic alveolitis).
• Connective tissue disease-related ILD (systemic sclerosis, ILD, Sjögren's disease, etc.).
• Medications: Methotrexate, nitrofurantoin, some of the chemotherapeutic agents.
• Occupational lung diseases: Asbestosis, silicosis, pneumoconiosis, etc.
• Sarcoidosis.
• Smoking-related ILD.
Examiner: How would you differentiate crackles in bronchiectasis, lung fibrosis, and
pulmonary oedema?
Candidate:
• In bronchiectasis:
–– The crackles are coarse, low-pitched, and loud.
–– Characteristically change with or altered by cough.
 A patient with interstitial lung disease 59

Figure 3.7 Computed tomography (CT) scan of

the lungs in a patient with idiopathic pulmonary
fibrosis (IPF) (observe the sub-pleural fibrosis and
honeycombing).

• In pulmonary oedema:
–– In early cases of pulmonary oedema, the crackles can be fine.
–– In severe pulmonary oedema, the crackles can be coarse.
–– They are mid-to-late (end) inspiratory and do not change with the cough.
• In lung fibrosis:
–– The crackles are fine and high pitched.
–– They are late (end) inspiratory.
–– They do not change with the cough.
–– Usually described as a ‘Velcro’ type of crackles – (Velcro sound is the sound
produced by the hook-and-loop fasteners when the strips are separated).
Examiner: Which crackles are heard during early inspiration?
Candidate: Crackles heard during early inspiration are indicative of airway diseases, such
as chronic bronchitis and emphysema.
Crackles heard during late inspiration are indicative of parenchymal disorders, such
as pulmonary fibrosis, interstitial pneumonitis, and pneumonia.
Examiner: What are pulmonary squawks (or squeaks) and when do you hear them?
Candidate: Squawks/squeaks are short inspiratory wheezes of very short duration that
are heard late in inspiration (end-inspiratory). Common causes of squawks are:
• Pulmonary fibrosis of various causes (particularly in hypersensitivity pneumonitis).
• Pneumonia.
• Bronchiolitis obliterans.
Examiner: What are the causes of predominantly upper lobe fibrosis?
Candidate: ‘SARA-HAS-TO-BE-SICK-FROM-CHRONIC-ANKLE PAIN’—
• Sarcoidosis.
• Histoplasmosis.
• Tuberculosis.
• Berylliosis.
• Silicosis.
• Cystic fibrosis.
• Chronic hypersensitivity pneumonitis.
• Ankylosing spondylitis.
• Progressive massive fibrosis.
60 Part 3 Respiratory cases

Examiner: What are the causes of predominantly lower lobe fibrosis?

Candidate: ‘DRUGS-CANNOT-CURE-ASBESTOSIS’—
• Drugs (busulfan, bleomycin, nitrofurantoin, hydralazine, methotrexate, and
amiodarone).
• Connective tissue diseases (scleroderma and RA).
• Cryptogenic fibrosing alveolitis (IPF).
• Asbestosis.
Examiner: What important questions would you like to ask this patient?
Candidate:
• Keeping birds.
• Farming.
• Recent and past occupations (asbestosis usually develops many years after asbestos
exposure).
• Use of drugs.
• Symptoms suggestive of connective tissue disease: Joint pain, Raynaud’s phenomenon,
dysphagia, dry mouth and eyes, skin rash, etc.).
• Extra-pulmonary features that suggest sarcoidosis: Uveitis, skin rash, etc.
Examiner: What is the type of immune reaction that happens in hypersensitivity
pneumonitis?
Candidate: Acute hypersensitivity pneumonitis is a type III immune reaction; whereas,
subacute and chronic forms are type IV immune reactions.
Examiner: Can you name some examples of hypersensitivity pneumonitis?
Candidate: Many substances can cause hypersensitivity pneumonitis. Some of the
famous examples include:
• Farmer’s lung – caused by inhalation of Saccharopolyspora rectivirgula in mouldy hay
and straw.
• Bird fancier’s lung (pigeon breeder’s disease) – caused by inhalation of avian or animal
proteins in feathers or droppings of birds.
• Humidifier lung – caused by inhalation of fungi growing in humidifiers, air
conditioners, and heating systems.
• Hot tub lung – caused by inhalation of Mycobacterium avium complex in the water
vapour coming from hot tubs.
Examiner: Where do you examine for a right middle lobe abnormality?
Candidate: The right middle lobe is represented in the right mid-chest anteriorly and
laterally (between 4th and 6th ribs) but not posteriorly. When you examine the chest
posteriorly, you examine for abnormalities in upper and lower lobes only (Figures 3.6a to c).
Examiner: How would you manage this patient?
Candidate:
Investigations:
• High-resolution computed tomography (HRCT) chest.
• Pulmonary function tests (PFTs) and arterial blood gas (ABG).
• Six-minute walk test.
• Bronchoscopy with bronchoalveolar lavage (BAL).
 Idiopathic pulmonary fibrosis and interstitial lung disease 61

• Autoimmune workup [rheumatoid factor (RF), anti-cyclic citrullinated peptide

antibodies (ACCP), anti-SCL-70, and extractable nuclear antigen antibodies (ENA)].
• Hypersensitivity pneumonitis panel (serum precipitins).
• Surgical lung biopsy.
Treatment:
• Stop smoking.
• Home oxygen therapy.
• Vaccination.
• Treat the underlying cause – steroids for hypersensitivity pneumonitis.

Idiopathic pulmonary fibrosis and interstitial lung disease

Examiner: What is the most common cause of ILD in older age groups?
Candidate: IPF is the most common cause.
Examiner: What are the diagnostic criteria for IPF?
Candidate: The three main diagnostic criteria are:
1. Exclusion of a known cause of ILD.
2. HRCT scan criteria.
3. Pathologic criteria (lung biopsy).
Examiner: What do you know about the HRCT findings in IPF?
Candidate:
• Honeycombing.
• Bilateral, predominantly subpleural basal fibrosis.
• Absence on HRCT of features that point to other aetiology.
Examiner: What is the name given to the histopathologic appearance of a lung biopsy
in IPF?
Candidate: Usual interstitial pneumonia (UIP).
Examiner: What are the causes of pulmonary fibrosis with honeycombing (UIP pattern)
on a CT scan of the chest? Or what diseases may mimic IPF?
Candidate:
• Idiopathic pulmonary fibrosis.
• Chronic hypersensitivity pneumonitis (extrinsic allergic alveolitis).
• Connective tissue diseases such as RA and scleroderma.
• Drug-induced – methotrexate used in the treatment of RA.
• Sarcoidosis.
• Asbestosis.
Examiner: In a patient with RA treated with methotrexate, how would you differentiate
pulmonary fibrosis due to methotrexate from that due to RA?
Candidate: This may be difficult to differentiate, but the presence of lymphocytes in the
BAL fluid, granuloma in the lung biopsy specimens, and peripheral eosinophilia can
suggest it is methotrexate rather than RA-related ILD. The presence of active RA and
neutrophilic BAL suggests RA-related ILD.
62 Part 3 Respiratory cases

Examiner: Can you name some new drugs for the treatment of IPF?
Candidate:
• Pirfenidone.
• Nintedanib.
Examiner: What are the complications or comorbidities associated with IPF?
Candidate:
• Pulmonary hypertension.
• Lung cancer.
• Coronary artery disease.
• Pulmonary embolism.
• Respiratory failure.
Examiner: How would you manage this patient?
Candidate:
Investigations:
• HRCT chest.
• PFTs and ABG
• Six-minute walk test.
• Bronchoscopy with BAL.
• Autoimmune workup (RF, ACCP, ASCL-70, and ENA).
• Hypersensitivity pneumonitis panel (serum precipitins).
• Surgical lung biopsy.
Treatment:
• Stop smoking.
• Home oxygen therapy.
• Vaccination.
• Drugs: Pirfenidone and nintedanib.
• Referral for lung transplantation (should be done early).
• Pulmonary rehabilitation.
Examiner: What is the prognosis of IPF?
Candidate: The prognosis of IPF is poor with a median survival of 2.5–3.5 years.

Bronchiectasis
Common instructions
•• This gentleman is under follow-up in the urology clinic for infertility. He complains of
cough. Please examine his respiratory system.
•• This young gentleman has cough since childhood. Please examine his respiratory
system.

Common pitfalls
• Misdiagnosing bronchiectasis as ILD despite the presence of coarse crackles.
• Failure to ask the patient to cough to appreciate the changes in the quality of
coarse crackles.
 Bronchiectasis 63

The typical presentation of the findings

This gentleman appears comfortable and not in distress. He has finger clubbing. Chest
examination revealed bilateral coarse crackles that are altered by coughing. The most
likely diagnosis is bilateral bronchiectasis. Given the history of infertility, Kartagener’s
syndrome is the likely cause. I would like to complete my examination by examining the
cardiovascular system to check for dextrocardia (Figure 3.8).
Examiner: What are the causes of bronchiectasis?
Candidate: ‘OK CHAPS’—
1. O: Obstruction of the bronchus (tumour and foreign body).
2. K: Kartagener’s syndrome.
3. C: Cystic fibrosis.
4. H: Hypogammaglobulinaemia.
5. A: Allergic bronchopulmonary aspergillosis.
6. P: Pneumonia and previous chest infections (whooping cough and measles).
7. S: Sjögren's syndrome and connective diseases.
Examiner: Which other systems would you like to examine in this patient?
Candidate: I would like to examine the cardiovascular system for the presence of
dextrocardia (Kartagener’s syndrome).
Examiner: What is Kartagener’s syndrome?
Candidate: This is an autosomal recessive disorder, which results in dextrocardia,
sinusitis, and bronchiectasis. It is caused by defective ciliary function in the airways
‘ciliary dyskinesia’ leading to defective mucus clearing and repeated infections and
bronchiectasis. The main diagnostic method is nasal and bronchial brushings or biopsy.
Examiner: What do you think about the cause of his infertility?
Candidate: Most men with primary ciliary dyskinesia/Kartagener’s syndrome are
infertile because of immotile sperms (the sperms are viable but immotile). Almost half of
women with this disease have reduced fertility because of a lack of ciliary function of the
fallopian tubes.
Examiner: If a patient with bronchiectasis has recurrent cough since childhood, what
comes to your mind as the possible aetiology?
Candidate:
• Cystic fibrosis.

Figure 3.8 Computed tomography (CT) scan chest

of a patient with Kartagener’s syndrome (observe the
presence of situs inversus and the bronchiectasis).

Heart
Liver
64 Part 3 Respiratory cases

• Bronchiectasis complicating viral/bacterial pneumonia.

• Hypogammaglobulinaemia.
Examiner: If this patient comes with nephrotic syndrome, what is the possible aetiology?
Candidate: Systemic amyloidosis complicating chronic bronchiectasis.
Examiner: What are the complications of bronchiectasis?
Candidate:
• Massive haemoptysis.
• Repeated chest infections.
• Lung abscess.
• Cor-pulmonale.
• Systemic amyloidosis.
Examiner: How do you investigate this patient?
Candidate:
• Complete blood count (CBC).
• Sputum gram stain and culture.
• Chest X-ray.
• HRCT lungs.
• Serum immunoglobulin levels.
• Work-up for CF (including sweat chloride and genetic testing).
• Skin prick test for Aspergillus and Aspergillus-specific IgE level.
• Bronchoscopy and BAL.
• Pulmonary function test.
Examiner: How would you treat this patient?
Candidate:
• Antibiotics.
• Bronchodilator therapy.
• Mucolytic therapy.
• Saline nebulisation.
• Treat the underlying cause.
• Vaccination.
• Chest physiotherapy.
• Surgery for localised bronchiectasis or massive haemoptysis.

Cystic fibrosis
Examiner: How would you diagnose CF?
Candidate:
• Clinical features, PFT, sputum culture, and HRCT chest.
• Two samples of sweat chloride >60 mmol/L.
• Genetic testing: Indications:
–– Intermediate results of the sweat chloride test (40–60).
–– Family history of CF.
–– Pre-pregnancy.
Examiner: What is the basic abnormality in CF?
 Cystic fibrosis 65

Candidate: Defect in the cystic fibrosis transmembrane conductance regulator (CFTR)

gene results in abnormal cAMP-regulated chloride transport across epithelial cells. This
results in decreased secretion of chloride and increased reabsorption of sodium and
water across epithelial cells. Consequently, there is decreased hydration of the mucus,
which becomes stickier to bacteria leading to recurrent infections and inflammation.
Examiner: Can you name some conditions that give false positive high sweat chloride?
Candidate:
• Endocrine diseases: Adrenal insufficiency – hypothyroidism – panhypopituitarism.
• Glycogen storage disease.
• Mucopolysaccharidosis.
• Atopic dermatitis.
Examiner: How would you manage a CF patient?
Candidate:
• Chest physiotherapy and chest clearance.
• Mucolytic nebulisation.
• Dornase alfa (pulmozyme).
• Nebulised hypertonic saline.
• Bronchodilators.
• Antibiotics.
• Pancreatic enzyme supplements.
• Multivitamins including fat-soluble vitamins to treat associated conditions or
complications (e.g. insulin and bisphosphonates).
• New drug: Ivacaftor alone or in combination with lumacaftor.
• Patient and family counselling.
Examiner: If this patient presents with acute right iliac fossa pain, what should come to
mind?
Candidate: Meconium ileus equivalent (MIE) as a complication of CF. It usually manifests
with right lower quadrant abdominal pain. One may feel a mass in the RIF. Management
is with oral laxatives and enemas, rehydration, and correction of associated electrolyte
abnormalities. In severe cases, surgery may be indicated.
Examiner: Which bacteria commonly cause infections in CF patients?
Candidate:
• Pseudomonas aeruginosa.
• Burkholderia cepacia.
• Stenotrophomonas maltophilia.
• Staphylococcus aureus.
• Haemophilus influenzae.
Examiner: What is the mechanism of action of ivacaftor in CF?
Candidate: It is a CFTR protein potentiator.
Examiner: If this man gets married what is the chance that he is infertile and why?
Candidate: More than 95% of men with CF are infertile. This is because of the absence of
vas deferens and not due to a defect in spermatogenesis. Female infertility occurs in 20%
of CF patients and is related to amenorrhoea of malnutrition.
66 Part 3 Respiratory cases

Dullness over the lung base

Common instructions
•• This gentleman complains of breathing difficulty. Please examine his respiratory
system.

Common pitfalls
• Failure to mention pleural thickening in the differential diagnosis.
• Failure to observe pleural aspiration or biopsy scars.
• Failure to observe thoracotomy scar suggestive of lobectomy or pneumonectomy.

The differential diagnosis of dullness over the lung base includes

• Pleural effusion:
–– Signs: Site of needle aspiration, stony dullness to percussion, decreased breath
sounds, and decreased vocal resonance.
• Collapse:
–– Signs: Dullness to percussion, tracheal deviation to the same side, and decreased
breath sounds.
• Lobectomy/pneumonectomy:
–– Signs: Thoracotomy scar, asymmetrical chest (depressed on the affected side),
dullness to percussion, tracheal deviation to the same side and decreased breath
sounds (signs are similar to a collapse in addition to the presence of a scar).
• Elevated haemidiaphragm:
–– Signs: Dullness, decreased breath sounds, decreased vocal resonance and
fremitus, and positive tidal percussion.
• Consolidation:
–– Signs: Dullness to percussion, decreased breath sounds, bronchial breathing,
increased vocal resonance, aegophony, and whispering pectoriloquy.
• Pleural thickening:
–– Signs: Similar to pleural effusion.
Examiner: How would you differentiate an elevated haemidiaphragm from other causes
of dullness at the lung base?
Candidate: Tidal percussion. Percuss down the back until you reach the area of dullness.
Keep your finger over that level and ask the patient to breathe in deeply and hold the
breath. Now percuss again at that level. If the note becomes resonant then the cause is
supradiaphragmatic. In diaphragmatic paralysis or infradiaphragmatic pathology, the
note will remain dull.

PLEURAL EFFUSION
Examiner: What are the causes of an exudative pleural effusion?
Candidate:
Common causes:
• Malignancy.
 Dullness over the lung base 67

• Parapneumonic.
• Tuberculosis.
Less common causes:
• Rheumatoid and autoimmune disease.
• Asbestosis.
• Pancreatitis.
• Acute myocardial infarction and post-CABG.
Rare causes:
• Drugs.
• Yellow nail syndrome.
Examiner: What are the causes of a transudative pleural effusion?
Candidate:
• Congestive heart failure (CHF).
• Liver cirrhosis.
• Nephrotic syndrome.
• Constrictive pericarditis.
• Hypothyroidism.
• Hypoalbuminaemia.
• Urinothorax.
• Meigs syndrome.
Examiner: What are the causes of a lymphocytic pleural effusion?
Candidate:
• Malignancy.
• Lymphoma.
• Tuberculosis.
• Sarcoidosis.
• Rheumatoid arthritis.
Examiner: What are Light’s criteria?
Candidate: These are criteria for differentiating exudative from transudative effusion.
Presence of any of the following suggests an exudative effusion:
• Pleural protein/serum protein >0.5.
• Pleural lactate dehydrogenase (LDH)/serum LDH >0.6.
• Pleural LDH >2/3 upper limit of laboratory normal value for serum LDH.
Examiner: What is the main disadvantage of using the Light’s criteria to differentiate an
exudative from transudative effusion?
Candidate: The main disadvantage is in patients with CHF who are receiving diuretic
therapy. In these patients, pleural fluid may turn exudative.
Examiner: How would you differentiate a pleural effusion of CHF with diuretic use from
other causes of an exudative effusion?
Candidate: By measuring the serum-pleural albumin gradient or measuring the
NT-proBNP in pleural fluid. A serum-pleural albumin gradient >1.2 g/dL suggests that the
patient has a transudative pleural effusion.
Examiner: How would you investigate a patient with suspected pleural effusion?
68 Part 3 Respiratory cases

Candidate:
• Chest X-ray to confirm the presence of an effusion.
• If the patient has a cause of a transudative effusion such as heart failure or liver
cirrhosis, we correct that condition.
• US-guided pleural aspiration – if no obvious cause of transudative effusion.
• We send pleural fluid for protein, LDH, pH, Gram stain and culture, acid-fast bacilli
(AFB) smear and culture, cell count and cytology.
• CT scan chest – if pleural aspiration did not reveal a diagnosis.
• Video-assisted thoracoscopic (VAT) pleural biopsy.
Examiner: How much fluid should be present in the pleural to be seen on a chest X-ray?
Candidate: Around 200 mL.
Examiner: What are the advantages of the US in guiding pleural aspiration?
Candidate: It increases the likelihood of successful aspiration, particularly if the effusion
is small, reduces the risk of organ puncture, and differentiates pleural thickening from
effusion.
Examiner: What pleural fluid test should you send for if you suspect mesothelioma?
Candidate: Pleural mesothelin (tumour marker for mesothelioma).
Examiner: What are the characteristic findings in rheumatoid pleural effusion?
Candidate:
• Glucose <1.6 mmol/L.
• pH <7.30.
• High LDH.
• Presence of rheumatoid factor.
Examiner: What are the characteristic features of yellow nail syndrome?

Figure 3.9 Yellow nail syndrome.

 Lobar consolidation and lobar collapse 69

Candidate:
• Yellow dystrophic nails with onycholysis (Figure 3.9).
• Pleural effusion.
• Lymphoedema.
• Bronchiectasis.
Examiner: What are the causes of pleural thickening?
Candidate:
• Empyaema.
• Mesothelioma.
• Tuberculosis.

Lobar consolidation and lobar

collapse
Common instructions

•• This gentleman complains of cough and weight loss. Please examine his respiratory
system to find the cause of his symptoms.
•• This young woman complains of cough. Please examine her respiratory system.

Common pitfalls
• Candidates do not examine for aegophony, whispering pectoriloquy when they find
dull percussion note.
• Although community-acquired pneumonia is rare in clinical examinations, lung
cancer is an important cause of consolidation.

The typical presentation of the findings

Candidate 1: This gentleman appears cachectic. He has clubbing and nicotine stains in
his fingers. His chest examination revealed signs of consolidation of the right middle
lobe. There is also discolouration of the skin of the right upper chest suggestive of prior
radiation therapy. The most likely diagnosis is bronchogenic neoplasm.
Candidate 2: This pleasant lady appears tachypnoeic and has tachycardia. Her chest
examination revealed signs of consolidation of the right lower lobe. The most likely
diagnosis is lobar pneumonia.
Examiner: What are the clinical signs indicating consolidation?
Candidate:
• Reduced chest expansion on the affected area.
• Increased vocal fremitus.
• Dull percussion note.
• Bronchial breathing.
• Increased vocal resonance.
70 Part 3 Respiratory cases

• Bronchophony: The breath sounds are louder over the consolidated area.
• Aegophony: When the patient is asked to vowel ‘E’, it is perceived by the examiner as ‘A'.
• Whispering pectoriloquy: When the patient is asked to whisper ‘one, one, one’, the
words are heard louder over the consolidated area.
Examiner: Why do we hear these signs only in case of consolidation and not in effusion or
collapse?
Candidate: In consolidation, the lung tissue becomes hard ‘solid’ because of the
accumulation of exudates. Sound travels fastest through solids as the molecules in a solid
medium are much closer together than those in a liquid or a gas. Because of this fact,
sounds produced at the trachea and large airways are heard louder over the consolidated
area than in normal lungs (air) or effusion. This causes an increase in vocal resonance,
vocal fremitus, and other signs observed in consolidation.
Examiner: What are the common causes of lobar consolidation?
Candidate:
• Lobar pneumonia.
• Tuberculosis.
• Lung tumours particularly non-small cell cancer.
Examiner: What are the classic radiologic findings in lobar consolidation?
Candidate: Radio-opaque opacification of the involved lobe along with air bronchogram
(Figure 3.10).
Examiner: What are the clinical signs in lobar collapse?
Candidate:
• Trachea shifted towards the side of collapse.
• Reduced chest expansion on the side of collapse.
• Dull percussion note over the collapsed part.
• Reduced breath sound over the collapsed area.
Examiner: What are the common causes of lobar collapse?
Candidate:
• Tumour occluding the bronchus.

Figure 3.10 Lung computed tomography (CT) scan

showing a typical consolidation appearance. Observe
the air bronchogram (arrow).
 Lobar consolidation and lobar collapse 71

• Foreign body.
• Mucus plug.
• Compression of the bronchus by lymph node or tumours.

Pneumonectomy/lobectomy
Common pitfalls
• Missing the scar (particularly lateral thoracotomy scar) (Figures 3.2 and 3.4).

Clinical signs of lobectomy/pneumonectomy

Thoracotomy scar, asymmetrical chest (depressed on the affected side) (Figure 3.2),
dullness to percussion, tracheal deviation to the same side, and decreased breath sounds
(signs are similar to collapse in addition to the presence of surgical scar).
Note: If you do not see the scar, you may miss the diagnosis.

Most common causes of lobectomy/pneumonectomy in clinical

examinations
• Pneumonectomy or lobectomy for lung cancer (in young patient surgery for carcinoid).
• Old surgical treatment for TB.
• Surgery for localised bronchiectasis.
• Decortication for empyaema.

Unilateral lung fibrosis (post-tuberculous)

Common pitfalls
• This is one of the frequently encountered respiratory cases in clinical examinations;
yet, many candidates fail to spot chest asymmetry and other clinical signs.

Clinical signs of unilateral fibrosis

Asymmetry of the chest (affected side is depressed), decreased chest expansion on the
affected side, trachea shifted to the affected side, dull percussion note on the affected
side, decreased breath sounds on the affected side. Bronchial breathing, increased vocal
fremitus and vocal resonance as in consolidation may be found. (There might be a scar, if
the patient was treated surgically for TB before the anti-TB drug era) (Figure 3.2).

Differential diagnosis of unilateral pulmonary fibrosis

• Post-TB sequelae (most common in the examination).
• Post-bronchiectasis (chronic bronchiectasis in the lung may cause scarring and
fibrosis).
• Radiation-induced pulmonary fibrosis (for lung or breast cancer).
• Ankylosing spondylitis (uncommon chest case in clinical examinations).
72 Part 3 Respiratory cases

Dullness over the lung apex

Common instructions

•• This gentleman complains of right arm pain. Please examine his respiratory system.

Common pitfalls
• Failure to recognise signs of Pancoast tumour (such as Horner’s syndrome and wasting
of small hand muscles).
• Failure to recognise signs of apical fibrosis such as deviation of the trachea and reduced
lung volume.
Examiner: What are the differential diagnoses of dull percussion note over a lung apex?
Candidate:
• Pancoast tumour (superior sulcus tumour):
–– Look for signs of Horner’s syndrome.
–– Look for wasting of small hand muscles.
–– Ask about the loss of facial sweating (sympathetic chain compression).
• Apical lung fibrosis:
–– Look for deviation of the trachea.
–– Look for loss of lung volume.
• Upper lobe collapse:
–– Look for deviation of the trachea.
–– Look for loss of lung volume.
• Upper lobe consolidation:
–– Presence of classic signs of consolidation.
Examiner: What are the signs of a Pancoast tumour?
Candidate:
• Invasion of brachial plexus causing pain in the hand and small muscle wasting.
• Invasion of the sympathetic chain and satellite ganglion causing Horner’s syndrome:
–– Unilateral enophthalmos.
–– Ptosis.
–– Meiosis (small pupil).
–– Anhidrosis (lack of facial sweating on the affected side).
Important note: In postgraduate clinical examinations, candidates may be requested
to examine the hands of a patient with unilateral wasting of small muscles. In such a
scenario, candidates must also examine the lung apices and look for Horner’s syndrome
and ask about the absence of facial sweating.
Examiner: What are the causes of upper lobe fibrosis?
Candidate: ‘SARA-HAS-TO-BE-SICK-FROM-CHRONIC-ANKLE PAIN’
• Sarcoidosis.
• Histoplasmosis.
• Tuberculosis.
• Berylliosis.
• Silicosis.
 Chronic obstructive pulmonary disease 73

• Cystic fibrosis.
• Chronic hypersensitivity pneumonitis.
• Ankylosing spondylitis.
• Progressive massive fibrosis.

Chronic obstructive pulmonary

disease
Common instructions

•• This gentleman complains of cough and breathlessness. Please examine his

respiratory system.

Common pitfalls
• Candidates do not suspect COPD (emphysema) when there is a diffuse reduction in
breath sounds over the chest.
• Attributing clubbing to COPD.
• Failure to recognise the presence of cor pulmonale.
• Failure to observe the BIPAP machine beside the patient.
• Failure to recognise nicotine staining.

The typical presentation of the findings

This gentleman appears tachypnoeic with a respiratory rate of 30 bpm. He is using the
accessory muscles of respiration. He is sitting in a ‘tripod position’ (leaning forward
posture with his hands on the knees). He has pursed-lip breathing. There is peripheral
and central cyanosis with palmar erythema (Figure 3.11). There are nicotine stains in
his fingers. The distance between the top of the thyroid cartilage and the suprasternal
notch is reduced and I can see a BIPAP machine near the bed. There is a tracheal
descent with inspiration (positive tracheal tug/Campbell sign). His chest is barrel-
shaped (increased anteroposterior chest diameter) (Figure 3.12). There is a paradoxical
inspiratory indrawing of the costal margins (positive Hoover’s sign). Chest expansion is

Figure 3.11 Palmar erythema with peripheral cyanosis

in a patient with chronic obstructive pulmonary
disease (COPD).
74 Part 3 Respiratory cases

Figure 3.12 Increased anterior–posterior (AP)

diameter of the chest (barrel-shaped chest). Observe
also the wasting.

reduced bilaterally. Percussion note is hyper-resonant all over the chest with obliteration
of cardiac and liver dullness. There is a marked decrease in breath sound intensity
bilaterally. There are early inspiratory crackles (at the beginning of inspiration) and
bilateral scattered rhonchi. There is also elevated JVP and bilateral pitting oedema of the
legs. My diagnosis is COPD complicated by cor pulmonale. I would like to complete my
examination by checking the peak expiratory flow (PEF).
Examiner: What is the tracheal tug sign/Campbell sign and why does it happen?
Candidate: Tracheal tug or Campbell sign is the downward displacement of the trachea
during inspiration in patients with COPD or emphysema. It is best felt by placing the tip of
the index finger on the thyroid cartilage. It happens because of the downward pull of the
already depressed diaphragm during inspiration.
Examiner: What is the normal laryngeal height or distance between the thyroid cartilage
and the suprasternal notch?
Candidates: The normal laryngeal height is >4 cm. In COPD, it is less ≤4 cm. The laryngeal
height is reduced because of the hyperinflated chest and the descended diaphragm that
pulls the trachea downward.
Examiner: What is the mechanism of purse-lip breathing in COPD?
Candidate: In purse-lip breathing, patients exhale through pursed lips. Purse-lip breathing
lengthens the period of expiration and increases the pressure of the airways during
expiration. This, in turn, prevents airway collapse, improves ventilation and oxygenation,
reduces CO2 and respiratory rate, and increases the inspiratory muscle strength.
 Chronic obstructive pulmonary disease 75

Examiner: What are the risk factors for COPD?

Candidate:
• Tobacco smoking is the main risk factor.
• Burning of biomass fuel is the second most common.
• Air pollution.
• Alpha-1 antitrypsin deficiency.
Examiner: What is the most important predictor of COPD exacerbation?
Candidate: The most important predictor is a history of previous exacerbation.
Examiner: How would stage or assess the severity of COPD?
Candidate: To assess the severity or stage of COPD, we depend on three factors:
1. Degree of airflow limitation (using spirometry) – called the GOLD stage.
2. The severity of symptoms (e.g. by COPD assessment test – CAT).
3. Frequency of exacerbations.
A. Spirometric grade: GOLD stage based on the severity of airflow limitation on
spirometry using the percentage of predicted forced expiratory volume (FEV1) (FEV1%)?
• FEV1 (% of predicted):
–– GOLD 1: ≥80
–– GOLD 2: 50–79
–– GOLD 3: 30–49
–– GOLD 4: <30
B. Symptom and risk of exacerbation staging:
Group Characteristics Exacerbation per year CAT
A Low-risk exacerbation ≤1 <10
Fewer symptoms
B Low-risk exacerbation ≤1 ≥10
More symptoms
C High-risk exacerbation ≥2 or <10
Fewer symptoms (≥1 leading to admission)
D High-risk exacerbation ≥2 or ≥10
More symptoms (≥1 leading to admission)

To write the classification, we write for example GOLD 4 – Group C.

Examiner: What are the comorbidities/complications or extra-pulmonary manifestations
of COPD?
Candidate:
• Cor pulmonale.
• Cardiovascular disease.
• Metabolic syndrome.
• Polycythaemia.
• Muscle wasting.
• Osteoporosis.
• Depression.
• Lung cancer.
Examiner: How would you manage this patient?
76 Part 3 Respiratory cases

Candidate:
• Counsel the patient: Teach about the disease and inhaler technique.
• Stop smoking.
• CBC, haematocrit, and ABG.
• Chest X-ray.
• PFT.
• Alpha-1 antitrypsin level.
• Bronchodilators with or without inhaled steroids (depending on the stage).
• Treat exacerbations.
• Vaccination (influenza and pneumococcal).
• Long-term oxygen therapy (LTOT).
• Noninvasive ventilation.
• Pulmonary rehabilitation.
Examiner: How would you tailor inhaler therapy in COPD?
Candidate: Inhaler therapy is tailored according to the severity/group of COPD that is
based on symptoms and risk of exacerbations.
• Group A: Can be initiated on short- or long-acting bronchodilators.
• Group B: Either LAMA or LABA.
• Group C: LAMA.
• Group D: Combination therapy (LABA + LAMA or LABA + ICS). May consider LABA +
LAMA + ICS.
Roflumilast can be added, if FEV1 <50% with chronic bronchitis.
Examiner: Which type of pneumococcal vaccine would you prescribe for this patient?
Candidate: If the patient is <65 years of age and has COPD and FEV1 <40%, we will
prescribe the 23-valent pneumococcal vaccine.
Examiner: Would you request α-1 antitrypsin level for all patients with COPD?
Candidate: The WHO recommends that all patients with COPD should be screened at
least once particularly in areas with a high prevalence of α-1 antitrypsin deficiency (level
<20% of normal is highly suggestive of homozygous deficiency).
Examiner: What are the indications of LTOT in COPD?
Candidate:
• PaO2 <55 mmHg or SpaO2 <88% on two occasions when the patient is stable.
• PaO2 between 55–60 mmHg or SpaO2 88% with evidence of pulmonary hypertension,
cor pulmonale, or polycythaemia (HCT >55%).
Examiner: What are the spirometric findings in COPD?
Candidate:
• FEV1/FVC <70% (obstructive pattern).
• Irreversibility with bronchodilator use (increase in FEV1 <12% and <200 mL).
• Decreased diffusing capacity for carbon monoxide (DLCO).
• Evidence of air trapping [increased residual volume (RV)].
Examiner: How do you differentiate asthma from COPD on spirometry?
Candidate:
• Irreversibility of airway obstruction.
• Decreased DLCO.
 Superior vena cava obstruction/syndrome 77

Examiner: Is COPD a cause for finger clubbing?

Candidate: COPD per se is not a cause of finger clubbing. The presence of clubbing in
COPD patient should raise the suspicion of lung cancer or bronchiectasis as complications
of COPD.
Examiner: What is the best way to deliver O2 in acute COPD exacerbation and why?
Candidate: Venturi masks are preferred because they permit a precisely delivered
fraction of O2 (24–60%).
Examiner: What value of pulse oximetry corresponds to PaO2 of 60 mmHg?
Candidate: SpaO2 of 90% corresponds to PaO2 of 60 mmHg.

Superior vena cava obstruction/

syndrome
Common instructions

•• This gentleman complains of difficulty in breathing. Please examine his respiratory

system.
•• This gentleman complains of headache. Please examine his respiratory system.

Common pitfalls
• Failure to spot dilated veins over the chest (Figure 3.13).
• Failure to observe the dusky/red colour and puffiness of the face (Figure 3.13).
• Failure to observe radiation-induced skin changes.
• Failure to observe other signs of lung cancer such as hoarseness of voice and finger
clubbing.

Figure 3.13 Dilated veins over the chest with dusky

oedematous face and swollen neck from superior vena
cava obstruction.
78 Part 3 Respiratory cases

Figure 3.14 Dilated veins over the chest from superior

vena cava obstruction with radiotherapy markings.

The typical presentation of the findings

This gentleman has swelling of his face, neck, and arms along with dusky discolouration
of the face and neck. He has dilated veins over the upper chest (Figures 3.13 and 3.14).
I could also observe that he has hoarseness of voice. Chest examination revealed a
dull percussion note over the right mid-chest along with reduced breath sounds and
coarse crackles. This gentleman has a superior vena cava (SVC) obstruction most likely
secondary a lung neoplasm.
Examiner: What are the causes of SVC obstruction?
Candidate:
• Intrathoracic malignancies account for 80% of causes:
–– Bronchogenic carcinoma is the most common cause.
–– Non-Hodgkin lymphoma.
–– Thymoma.
–– Mediastinal germ cell neoplasms.
• Fibrosing mediastinitis.
• Large aortic aneurysms.
• Sarcoidosis.
• Tuberculosis.
• Central lines.
Examiner: Which type of lung cancer is typically associated with SVC obstruction?
Candidate: Non-small cell cancer.
Examiner: Which type of lymphoma is typically associated with SVC obstruction?
Candidate: Diffuse large-cell type.
Examiner: What are the typical symptoms and signs of SVC obstruction?
Candidate:
Typical symptoms:
• Dyspnoea.
• Facial swelling.
• Head swelling.
• Headache.
• Hoarseness.
Typical signs:
• Distended veins over the chest and neck (above the nipples—in the distribution of
SVC) (Figures 3.13 and 3.14).
• Facial puffiness.
 Bronchogenic carcinoma 79

• Upper-extremity oedema.
• Dusky discolouration/cyanosis/plethora of the face and neck.
• Papilloedema.
• Cerebral oedema in severe cases.
These symptoms and signs worsen by leaning forward.
Examiner: What are the causes of anterior mediastinal masses?
Candidate: ‘Four Ts’—
1. Thyroid.
2. Thymoma.
3. Teratoma.
4. Terrible lymphoma.
Examiner: How would you manage this patient?
Candidate:
• Radiologic tests: CT scan/chest X-ray.
• MRI, if CT contrasts contraindicated.
• Treat the underlying cause.
• Elevation of the head.
• Oxygen administration.
• Steroids (with or without diuretics), if there is laryngeal or cerebral oedema.
• Radiotherapy was the mainstay treatment in deteriorating patients with SVC
obstruction (Figure 3.14).
• SVC stenting is replacing radiotherapy as the modality of treatment and provides rapid
relief of patient symptoms.
• In catheter-related SVC thrombosis, thrombolysis or anticoagulation may be indicated.

Bronchogenic carcinoma
Common instructions

•• This gentleman complains of cough and weight loss. Please examine his respiratory
system.
•• This gentleman complains of haemoptysis. Please examine his respiratory system.

Common pitfalls
• Failure to recognise the presence of radiation skin marks (Figures 3.14 and 3.15).
• Failure to observe that the patient has hoarseness of voice.
• Failure to observe alopecia or loss of hair as side effects of chemotherapy.
• Failure to observe nicotine stains of the fingers.

The typical presentation of the findings

This gentleman appears cachectic. He has diffuse alopecia, nicotine stains, and clubbing
of his fingers. He has also cervical lymphadenopathy. Chest examination revealed signs of
right upper lobe lung consolidation (can be collapse or pleural effusion as well). The most
likely diagnosis is bronchogenic neoplasm.
80 Part 3 Respiratory cases

Figure 3.15 Hyperpigmentation of the skin from a

previous radiotherapy.

Examiner: How common is lung cancer?

Candidate:
• Lung cancer is the most common cause of cancer-related deaths in both men and
women.
• It is the second most common cancer after prostate cancer in men.
• It is the second most common cancer after breast cancer in women.
Examiner: What are the risk factors for lung cancer?
Candidate:
• Smoking is the most common risk factor in 90% of cases.
• Radon gas exposure.
• Radiation therapy.
• Lung fibrosis.
• Air pollution.
• Asbestos exposure.
Examiner: How is lung cancer classified?
Candidate:
• Non-small cell cancer (80%) – mnemonic – ASLO:
–– Adenocarcinoma.
–– Squamous cell cancer.
–– Large cell cancer.
–– Others: Carcinoid tumours – pulmonary lymphoma – sarcoma.
• Small cell cancer (15–20%).
Examiner: Which lung cancer is the most common nowadays?
Candidate: Adenocarcinoma is the most common nowadays in developed countries and
accounts for 35% of all cases followed by squamous cell cancer.
Examiner: Which type of lung cancer is the most aggressive?
Candidate: Small cell cancer is the most aggressive and usually has metastasised by the
time of diagnosis.
Examiner: Which types of lung cancer are related most to smoking?
Candidate: All types of lung cancer are related to smoking, but squamous and small
cell types are the most (Any type of lung cancer starts with ‘S’ is related to smoking and
centrally located).
Examiner: Which type of lung cancer is most commonly associated with finger clubbing
and hypertrophic pulmonary osteoarthropathy (HPOA)?
 Bronchogenic carcinoma 81

Candidate: Adenocarcinoma (followed by squamous).

Examiner: What is hypertrophic pulmonary osteoarthropathy?
Candidate: The HPOA or otherwise called Pierre–Marie–Bamberger syndrome is a rare
paraneoplastic syndrome that may be associated with lung cancer. It can be also seen in
other diseases such as other types of malignancies, chronic liver disease, and cyanotic
heart diseases. HPOA is characterised by a triad of painful, swollen joints (wrists and
ankles), finger clubbing and periostitis. Bone scintigraphy is a highly sensitive method
for the diagnosis of HPOA. The typical findings on bone scintigraphy are the diffuse,
symmetrically increased uptake with the parallel track sign.
Examiner: Which lung cancer is commonly associated with gynaecomastia?
Candidate: Large cell cancer (large cancer causes large breasts)
Examiner: What causes hypercalcaemia in lung cancer?
Candidate:
• Bone metastasis.
• Ectopic parathyroid hormone-like peptide secretion (squamous cell type).
Examiner: How would you define paraneoplastic syndrome?
Candidate: A paraneoplastic syndrome is a clinical or biochemical manifestation of
cancer that occurs in a remote site and is not directly related to growth, invasion, or
metastasis of the tumour itself.
Examiner: Can you name some of the paraneoplastic syndromes associated with
lung cancer?
Candidate:
• Endocrine:
–– Hypercalcaemia.
–– Syndrome of inappropriate anti-diuretic hormone production (SIADH).
–– Cushing’s syndrome.
–– Hypoglycaemia.
–– Acromegaly.
–– Carcinoid syndrome.
–– Gynaecomastia.
–– Hyperthyroidism.
• Neurologic:
–– Encephalopathy.
–– Lambert–Eaton myasthaenic syndrome.
–– Sensorimotor neuropathies.
–– Subacute cerebellar degeneration/cerebellar ataxia.
–– Retinopathy.
–– Optic neuritis.
• Dermatologic:
–– Polymyositis/dermatomyositis.
–– Acanthosis nigricans.
–– Hypertrophic pulmonary osteoarthropathy.
–– Cutaneous vasculitis.
• Renal: Glomerulonephritis and nephropathy.
82 Part 3 Respiratory cases

• Haematological: Coagulopathy/disseminated intravascular coagulation (DIC)-

leucocytosis – thrombocytopaenia.
Examiner: How would you manage this patient?
Candidate:
Confirming the diagnosis of lung cancer:
• CT chest.
• Bronchoscopy and biopsy for central tumours.
• CT-guided biopsy for peripheral tumours.
• Sputum cytology, if centrally located tumour.
• Serum calcium and urea and electrolytes.
• Molecular testing for epidermal growth factor receptor (EGFR) mutation and
anaplastic lymphoma kinase (ALK) mutation in case of adenocarcinoma to determine
if the patient needs targeted therapy.
Staging the disease (TNM staging system):
• CT chest and abdomen.
• Positron emission tomography (PET) scan.
• MRI brain (in stage III and IV to detect occult brain metastasis).
• Endobronchial US/mediastinoscopy for mediastinal lymph node sampling.
• Bone scan.
Treatment:
• Stage I through Stage IIIA non-small cell cancer: Surgery is the treatment of choice
(adjuvant chemotherapy may be added).
• Stage IIIB and IV non-small cell cancer: Chemotherapy.
• Molecular-targeted therapy: For advanced adenocarcinoma with EGFR or ALK
mutations.
• Radiotherapy: For patients who are not candidates for surgery.
• Small cell cancer: Usually treated with chemotherapy.

A patient with wheezy chest

Common instructions

•• This woman complains of difficulty in breathing. Please examine her respiratory

system.

Common pitfalls
• Failure to examine for some asthma-associated comorbidities such as allergic rhinitis,
nasal polyps, and postnasal drip.
• Lack of knowledge on the differential diagnosis of the wheezy chest.
• Diagnosing COPD in young patients.
 A patient with wheezy chest 83

The typical presentation of the findings

This pleasant woman appears tachypnoeic and tachycardiac. She can complete
sentences. I could see a nebuliser machine beside her bed and she is on nasal oxygen at a
rate of 2 L/min. Her chest examination revealed a prolonged expiratory phase with diffuse
expiratory rhonchi. She most likely has asthma exacerbation. I would like to assess her
peak expiratory flow rate and oxygen saturation.
Examiner: What are the differential diagnoses of a wheezy chest?
Candidate:
• Bronchial asthma.
• Chronic obstructive airway disease (patient’s age should be above 40 years).
• Bronchiectasis.
• Acute bronchitis.
• Large airway obstruction due to tumours/goitre.
• Vocal cord dysfunction.
• Tracheobronchomalacia.
• Sometimes pulmonary embolism and pulmonary oedema.
Examiner: How would you differentiate wheezing due to asthma from that of large airway
obstruction?
Candidate:
• Wheezing in asthma is typically polyphonic (different tones can be heard
simultaneously).
• Also, wheezing due to asthma is usually expiratory (can be both expiratory and
inspiratory).
• Wheezing from larger airway obstruction is typically a single monophonic wheeze
(stridor) and is typically inspiratory.
Examiner: What should you suspect, if you hear a focal or localised monophonic wheeze
over one area of the lungs?
Candidate: Localised monophonic wheezes are commonly caused by a bronchial
obstruction in that area by a tumour or a foreign body.
Examiner: How would you assess the severity of acute asthma exacerbation?
Candidate:
Acute moderate asthma:
• Increasing symptoms.
• PEF >50–75% best of predicted.
• No features of acute severe asthma.
Acute severe asthma:
Anyone of the following:
• PEF 33–50% best or predicted.
• Respiratory rate ≥25 breaths/min.
• Heart rate ≥110 beats/min.
• Inability to complete sentences in one breath.
84 Part 3 Respiratory cases

Life-threatening asthma:
In a patient with severe asthma, any one of the following:
• PEF <33% best or predicted.
• SpO2 <92%.
• PaO2 <8 kPa.
• Normal PaCO2 (4.6–6.0 kPa).
• Silent chest.
• Cyanosis.
• Poor respiratory effort.
• Arrhythmia.
• Exhaustion.
• Altered conscious level.
• Hypotension.
Near-fatal asthma:
Raised PaCO2 and/or requiring mechanical ventilation with raised inflation pressures.
Examiner: How could you differentiate between asthma and COPD?
Candidate:
• History: Smoking, history of allergy or asthma.
• Spirometry before and after a bronchodilator will show significant reversibility post-
bronchodilator in asthma but no significant reversibility in COPD.
• DLCO: Usually reduced in COPD and normal in asthma.
• HRCT chest: May show centrilobular emphysema in COPD.
Examiner: How would you diagnose asthma?
Candidate:
• Tests to confirm/exclude asthma diagnosis:
–– Proper history including symptoms, exacerbating factors, history of allergy, family
history of asthma, seasonal variation, etc.
–– Spirometry pre- and post-bronchodilator administration is the main test to
confirm asthma diagnosis. In asthma, spirometry shows an obstructive pattern
with FEV1/FVC <70% with significant post-bronchodilator reversibility.
–– Normal spirometry in an asymptomatic patient does not rule out the diagnosis of
asthma.
–– If spirometry is not available, a PEF variability of >20% is considered suggestive
of asthma. PEF variability is the difference between the highest and lowest PEF
expressed as a percentage of the average PEF.
–– Methacholine challenge test (MCT) is used to exclude asthma, if normal (it
is a good negative test). Positive results can be seen in other diseases. The
concentration of methacholine required to lower FEV1 by 20% from the baseline
(PC20) is recorded. A PC20 of 8 mg/mL or less is regarded as positive. MCT is
usually needed when spirometry is inconclusive but asthma remains a possibility.
–– Fractional exhaled nitric oxide (FeNO) is usually high in eosinophilic asthma. But
this test is non-specific and can be high in other conditions such as allergic rhinitis.
A positive test increases the probability of asthma, but a negative test does not
exclude asthma. It is mainly used to follow response to medications and confirm
adherence to therapy.
 A patient with wheezy chest 85

• Other ancillary tests:

–– Skin-prick tests.
–– CBC for blood eosinophilia ≥4%.
–– Allergen-specific immunoglobulin E (IgE).
Examiner: How would you define significant post-bronchodilator reversibility on
spirometry?
Candidate: Increase in FEV1 by ≥12% and ≥200 mL.
Examiner: How would you manage acute asthma exacerbation?
Candidate:
• Medications:
–– Oxygen to maintain SpO2 of 94–98%.
–– β2-agonist bronchodilators via oxygen-driven nebulisers on repeated doses (at
15–30-minute intervals) or continuous nebulisation, if asthma exacerbation is
severe or poorly responsive to an initial bolus dose of β2-agonist.
–– Add nebulised ipratropium bromide (0.5 mg 4–6 hourly), if no significant response
to nebulised B2 agonist.
–– Steroids: Prednisolone 40–50 mg stat and daily or parenteral hydrocortisone 400
mg daily (100 mg stat and then 6 hourly).
–– Consider intravenous β2-agonist, if no response to nebulised therapy and steroids
(monitor serum lactate, if IV route to be used).
–– A single dose of intravenous magnesium sulphate may be considered in patients
with acute severe asthma (PEF <50% best or predicted) who have not had a good
initial response to inhaled bronchodilator therapy.
–– Nebulised magnesium sulphate is not recommended for treatment in adults with
acute asthma.
–– Intravenous aminophylline is unlikely to add benefit to the above and has serious
side effects.
–– Routine prescription of antibiotics is not indicated for patients with acute asthma.
–– Heliox is not recommended for use in patients with acute asthma outside a clinical
trial setting.
• Monitoring:
–– Measure and record PEF 15–30 minutes.
–– Pulse oximetry.
• Discharge plan:
–– Provide enough medications including inhaled corticosteroids and oral steroids.
–– Appointment with a general practitioner within 48 hours and an asthma specialist.
–– Six ‘A’ to be done for any patient with asthma:
i. Assess asthma control regularly (use GINA asthma control tool or Asthma
Control Test – ACT).
ii. Adherence check.
iii. Ability to use inhalers (inhaler technique).
iv. Asthma Action Plan (written) – must be provided.
v. Allergic rhinitis treatment – uncontrolled allergic rhinitis may worsen asthma
control.
vi. Allergens aggravating asthma – should be tested for.
86 Part 3 Respiratory cases

Further reading
Boyle MP, Bell SC, Konstan MW, et al. A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for
treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomized
controlled trial. Lancet Respir Med 2014; 2:527–538.
BTS/SIGN. (2019). British guideline on the management of asthma. [online] Available from https://www.
britthoracic.org.uk/qualityimprovement/guidelines/asthma/. [Last accessed April, 2020].
Global Initiative for Chronic Obstructive Lung Disease (GOLD). (2019). Global strategy for the diagnosis,
management, and prevention of chronic obstructive pulmonary disease—2019 report. [online] Available
from https://goldcopd.org/wp-content/uploads/2018/11/GOLD-2019-v1.7-FINAL-14Nov2018-WMS.pdf.
[lAST accessed April, 2020].
Kanaji N, Watanabe N, Kita N, et al. Paraneoplastic syndromes associated with lung cancer. World J Clin Oncol
2014; 105:197–223.
Lepper PM, Ott SR, Hoppe H, et al. Superior vena cava syndrome in thoracic malignancies. Respiratory Care
2011; 56:653–666.
Light RW, MacGregor MI, Luchsinger PC, Ball WC Jr. Pleural effusions: the diagnostic separation of transudates
and exudates. Ann Intern Med 1972; 77:507–513.
Light RW. Diagnostic principles in pleural disease. Eur Respir J 1997; 10:476–481.
Qian X, Qin J. Hypertrophic pulmonary osteoarthropathy with primary lung cancer. Oncol Lett 2014; 7:2079–2082.
Raghu G, Collard HR, Egan JJ, et al. An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis:
evidence-based guidelines for diagnosis and management. Am J Respir Crit Care Med 2011; 183:788–824.
Sarkar M, Bhardwaz R, Madabhavi I, Modi M. Physical signs in patients with chronic obstructive pulmonary
disease. Lung India 2019; 36:38–47.
Sarkar M, Madabhavi I, Niranjan N, Dogra M. Auscultation of the respiratory system. Ann Thorac Med 2015;
10:158–168.
Sarkar M, Mahesh DM, Madabhavi I. Digital clubbing. Lung India 2012; 29:354–362.
van der Doef HP, Kokke FT, van der Ent CK, Houwen RH. Intestinal obstruction syndromes in cystic fibrosis:
meconiumileus, distal intestinal obstruction syndrome, and constipation. Curr Gastroenterol Rep 2011;
13:265–270.
 Part 4
Abdominal cases

How to examine the abdomen?

• Wash your hands.
• Shake hands with the patient, introduce yourself, and obtain permission for
examination.
• Request the patient to lie flat with one pillow behind the head.
• I suggest that for abdominal examination, the candidate requests the patient to
remove the upper clothes completely and not only to the level of the nipple as advised
in textbooks. The reason is that a spider angiomata over the shoulder may be easily
missed, if the shoulders are not exposed (Figure 4.1).
• Quick surveillance of the patient and the surrounding may provide important clues to
the diagnosis as follows:
–– A patient with thalassaemia major may have a typical thalassaemic face (Figures
4.2 and 4.3).
–– A patient who appears hyperpigmented may have haemochromatosis.

Figure 4.1 Stigmata of chronic liver disease (CLD).

Observe the leuconychia, cachexia, loss of hair, full
flanks with everted umbilicus, scars from previous
paracentesis and the spider angiomata over the
shoulder.
88 Part 4 Abdominal cases

Figure 4.2 Lateral view of a typical thalassaemia

face (observe the enlarged cheekbones, protruding
maxilla, and dental protrusion with dental jumbling).

Figure 4.3 Anterior view of a typical thalassaemia face

(observe the enlarged cheekbones, protruding maxilla,
and dental protrusion with dental jumbling).

Figure 4.4 Leuconychia.

–– A patient with Cushing’s syndrome may have had a renal transplant.

–– A patient using a hearing aid may have Alport syndrome.
–– Inspect also the surrounding for a blood transfusion set (haematological diseases,
haemolytic anaemia such as thalassaemia or bleeding varices), intravenous
antibiotics [spontaneous bacterial peritonitis (SBP)], dialysis machine, etc.
• Examine the hands for:
–– Finger clubbing.
–– Leuconychia (Figure 4.4).
–– Koilonychia (Figure 4.5).
 How to examine the abdomen? 89

Figure 4.5 Koilonychia.

Figure 4.6 Dupuytren's contracture.

–– Beau’s lines of chemotherapy.

–– Palmar erythema.
–– Dupuytren’s contracture (Figure 4.6).
–– Flapping tremor.
• Examine the arms for the presence of an arteriovenous (AV) fistula (easily missed in
clinical examinations) (Figure 4.7).
• Examine the eyes for jaundice, pallor, and xanthelasma [may suggest primary biliary
cirrhosis(PBC)] (Figures 4.8 and 4.9).
• Examine the face, ears, and mouth for parotid enlargement (alcoholic cirrhosis),
hyperpigmentation, use of hearing aids (Alport syndrome), pallor, and jaundice.
• Examine the neck for:
–– Presence of lymphadenopathy.
–– Scars from previous central lines (easily missed in cases of renal transplants and
polycystic kidneys).
–– Scars from previous lymph node biopsy.
• Inspect and feel the chest for spider angiomata (Figure 4.1), hair distribution,
gynaecomastia, paper money skin, and the presence of tattoos over the chest or arms
(may suggest hepatitis B or C infection) (Figures 4.10 and 4.11).
• Examine the legs for pitting oedema (may be left until the end but should not be
forgotten) (Refer Figure 2.10: Part 2). Remember when examining for pitting oedema
to enquire from the patient about leg pain before pressing over the legs and to direct
your face towards the patient to elicit tenderness rather than towards the examiner.
90 Part 4 Abdominal cases

Figure 4.7 Arteriovenous (AV) fistula can be easily

missed.

Figure 4.8 Jaundice.

Figure 4.9 Xanthelasma.

 How to examine the abdomen? 91

Figure 4.10 Gynaecomastia, ascites, and scarce hair in

a patient with liver cirrhosis.

Figure 4.11 Tattoos in a patient with jaundice or

chronic liver disease may suggest viral hepatitis as the
aetiology.

• Move to the abdomen and perform the four steps of abdominal examination –
inspection, palpation, percussion, and auscultation.
• Abdominal inspection for:
–– Abdominal and flank distension (full flanks).
–– Scars (particularly Mercedes-Benz scar of liver transplant (Figure 4.12) and hidden
scars in the right iliac fossa of a renal transplant).
–– Dilated veins and caput medusa. If dilated veins are seen, check the direction of
blood flow (Figures 4.13 and 4.14).
92 Part 4 Abdominal cases

Figure 4.12 Mercedes-Benz scar of liver transplant.

Figure 4.13 Figure 4.14

Dilated veins Determination
over the of blood flow
abdomen in a direction
patient with of dilated
chronic liver abdominal veins.
disease (CLD).

–– Presence of peritoneal dialysis (PD) catheter or sometimes a scar from the previous
catheter (Figure 4.15).
–– Look for the shape of the umbilicus (everted or inverted).
–– Sometimes huge splenomegaly (such as that of myelofibrosis) or hepatic masses
may be obvious by inspection (Figure 4.16).
–– Inspect the hernial orifices.
• Abdominal palpation:
–– Before palpating the abdomen, ask the patient if he/she has any abdominal pain.
–– Palpate the abdomen superficially and then for organomegaly.
–– Do not forget to palpate for minor splenomegaly.
 How to examine the abdomen? 93

Figure 4.15 Peritoneal dialysis catheter.

Figure 4.16 Huge splenomegaly that is obvious on

inspection in a patient with myelofibrosis.

• Abdominal percussion:
–– Percuss the abdomen for organomegaly.
–– Percuss the abdomen for liver span (I encourage candidates to carry a
measuring tape).
–– Check for shifting dullness.
–– Check for the fluid thrill, if markedly distended abdomen.
94 Part 4 Abdominal cases

• Auscultation:
–– Listen for bowel sounds, renal and hepatic bruit. (What are the anatomical
landmarks for listening to renal bruit?).
• Inform the examiner that you would normally perform a genital and rectal examination
to complete the abdominal examination.

Chronic liver disease

Common instructions

•• This gentleman complains of fatigue. Please examine his abdominal system.

Common pitfalls
• Failure to observe spider nevi above the nipple area and shoulders (Figure 4.1).
• Failure to spot the increased skin pigmentation of haemochromatosis.
• Failure to mention PBC and autoimmune hepatitis as differential diagnoses in women
with chronic liver disease (CLD) or jaundice.

The typical presentation of the findings

This gentleman has stigmata of CLD in the form of spider nevi, palmar erythema,
scanty hair over the chest and abdomen, paper-money skin, jaundice, and leuconychia.
Abdominal examination revealed everted umbilicus, full flanks with a positive shifting
dullness suggestive of ascites (Figure 4.1). There is splenomegaly of 4 cm below the costal
margin. This gentleman has CLD. I would like to complete my examination by examining
the genitalia for testicular atrophy and enquire about previous hepatitis infection and
ethanol consumption.
Examiner: What is the most common cause of CLD?
Candidate: Hepatitis C virus (HCV) infection is the most common cause nowadays in
both developed and developing countries.
Examiner: What are the causes of CLD?
Candidate:
• Viral hepatitis C and B.
• Alcoholic liver disease.
• Nonalcoholic fatty liver disease (NAFLD).
• Cryptogenic.
• Autoimmune hepatitis.
• Primary biliary cirrhosis.
• Haemochromatosis.
• Wilson disease.
• Alpha-1 antitrypsin deficiency.
• Schistosomiasis.
• Budd–Chiari syndrome.
• Drug-induced liver disease, e.g. methotrexate, α-methyldopa, and amiodarone.
• Sarcoidosis.
 Chronic liver disease 95

Examiner: What is the importance of NAFLD in the development of CLD?

Candidate: NAFLD cirrhosis has been found to constitute the largest proportion of
cryptogenic cirrhosis.
Examiner: What is portal hypertension and how does it manifest?
Candidate: Clinically significant portal hypertension is defined as a hepatic venous
pressure gradient (HVPG) (pressure gradient between the portal vein and the inferior
vena cava) ≥10 mmHg. Variceal haemorrhage develops when the gradient exceeds
12 mmHg.
Manifestations of portal hypertension include ascites, splenomegaly and portacaval
anastomoses (oesophageal varices, gastric varices, and anorectal varices).
Examiner: What are the mechanisms of anaemia in CLD?
Candidate: Anaemia in CLD can arise from various causes such as:
• Folate deficiency.
• Hypersplenism.
• Bleeding.
Examiner: What is the mechanism of thrombocytopaenia in CLD?
Candidate:
• Hypersplenism.
• Reduced synthesis of thrombopoietin.
Examiner: What is the incidence of hepatocellular carcinoma in cirrhotic patients?
Candidate: 3% per year in patients with viral hepatitis and alcohol-induced cirrhosis.
Examiner: Which cause of CLD carries the highest risk for hepatocellular carcinoma?
Candidate: Haemochromatosis followed by α-1 antitrypsin deficiency.
Examiner: Which cause of CLD carries the least risk for hepatocellular carcinoma?
Candidate: Wilson’s disease followed by PBC.
Examiner: Which type of CLD rarely manifests with dermatologic stigmata of CLD?
Candidate: NAFLD.
Examiner: How would you assess the severity of CLD?
Candidate:
• Child–Turcotte–Pugh scoring system for cirrhosis:
–– It uses the following criteria:
■■ Encephalopathy.
■■ Ascites.
■■ Bilirubin.
■■ Albumin.
■■ Prothrombin time.
–– One‑year survival rate based on Child–Pugh score:
■■ Child–Pugh class A: >95%.
■■ Child–Pugh class B: 80%.
■■ Child–Pugh class C: 50%.
• Model for End-stage Liver Disease (MELD) scoring system: It utilises serum bilirubin,
serum creatinine, and the international normalised ratio (INR) to predict survival.
96 Part 4 Abdominal cases

The modified MELD (MELD-Na) incorporates serum sodium also. The patient should
be referred for liver transplantation, if the MELD score is 15 or more.
Examiner: What are the clinical manifestations that suggest the cause of CLD is alcohol?
Candidate:
• Parotid enlargement.
• Dupuytren’s contracture (Figure 4.6).
• Paper-money skin.
Examiner: What are the clinical manifestations that suggest hepatitis C as the cause of
CLD?
Candidate:
• Cryoglobulinaemia (Figure 4.17).
• Porphyria cutanea tarda.
Examiner: What are the clinical features that suggest PBC as the cause of CLD?
Candidate:
• Presence of xanthelasma (Figure 4.9).
• Scratch marks of pruritus (Figure 4.18).
• Presence of dry eyes and mouth (sicca syndrome).

Figure 4.17 Hepatitis C virus-

associated cryoglobulinaemia.

Figure 4.18 Scratch marks of pruritus in a patient with

cholestatic jaundice.
 Chronic liver disease 97

Examiner: When do you see clinical jaundice?

Candidate: Jaundice is usually recognisable when serum bilirubin levels exceed 2.5 or
3.0 mg/dL.
Examiner: What is the paper-money skin sign and where do you see it?
Candidate: Paper-money skin (or ‘dollar-paper’ markings) is seen on the upper trunk. The
skin is covered by needle-thin superficial capillaries. These thin capillaries resemble silk
threads in the American dollar.
Examiner: Are spider naevi specific for CLD? Why do they occur in CLD?
Candidate: Spider naevi commonly occur in the upper trunk, face, and neck (above the
level of the nipple) possibly because they drain into the superior vena cava. The presumed
mechanism is the high oestrogen level in CLD due to reduced oestrogen metabolism,
as they can be seen in pregnant women and patients receiving oestrogen therapy. A
significant number is >3 but any number of spider angiomata in an adult deserves
work-up.
Examiner: How does porphyria cutanea tarda manifest?
Candidate: Porphyria cutanea tarda usually manifests with blisters on sun-exposed
skin. In chronic porphyria cutanea tarda, skin scarring and ulceration develop. Alopecia,
melasma-like hyperpigmentation and hypertrichosis may also be seen.
Examiner: What cause of CLD, other than HCV, may present with porphyria cutanea
tarda?
Candidate: Haemochromatosis.
Examiner: If you find hepatomegaly in a patient with cirrhosis, what do you suspect?
Candidate: Causes of hepatomegaly in patients with cirrhosis are:
• Nonalcoholic fatty liver disease.
• Alcoholic hepatitis on top of cirrhosis.
• Budd–Chiari syndrome.
• Haemochromatosis.
• Hepatocellular carcinoma.
Examiner: What are the complications of CLD?
Candidate: Recurrent ascites, SBP, hepatorenal syndrome, hepatopulmonary syndrome,
hepatic encephalopathy, hepatocellular carcinoma, portal vein thrombosis, and muscle
cramps.
Examiner: What are the pulmonary complications of CLD?
Candidate:
• Hepatopulmonary syndrome due to AV shunting.
• Portopulmonary hypertension.
• Pleural effusions.
• Compression by massive ascites.
Examiner: How would you manage this patient?
98 Part 4 Abdominal cases

Candidate:
• History and investigations:
–– Take a proper history regarding alcohol consumption, IV drug abuse, sexual
history, history of surgery, and blood transfusion.
–– Complete blood count (CBC), liver function test (LFT), renal function test (RFT),
clotting profile, and US abdomen.
–– Viral hepatitis serology.
–– Autoimmune work-up: Antimitochondrial antibodies (AMA), antinuclear
antibodies (ANA), anti-smooth muscle antibodies (ASMA), liver kidney microsome
(LKM) for PBC, and autoimmune hepatitis.
–– Iron, transferrin, and ferritin for haemochromatosis.
–– Serum ceruloplasmin level, 24-hour urinary copper excretion for Wilson’s disease.
–– Slit-lamp examination for Kayser–Fleischer (KF) rings for Wilson’s disease.
–– Alpha-1 antitrypsin level.
• Treat the underlying cause (stop alcohol, steroids for autoimmune hepatitis, hepatitis B
and C treatment, etc.).
• Avoid hepatotoxic drugs.
• Vaccination for hepatitis A, B, influenza, and pneumococcus.
• Ascites management:
–– Avoid nonsteroidal anti-inflammatory drugs (NSAIDs): Cause renal
vasoconstriction, renal failure, and less response to diuretics.
–– Avoid angiotensin-converting enzyme (ACE) inhibitor: May cause a significant drop
in BP and a worsening of kidney function.
–– Sodium restriction to 80–120 mmol/day.
–– Fluid restriction is not recommended unless sodium is <120 mEq/L.
–– Diuretic therapy: Combination of spironolactone and furosemide.
–– Paracentesis: Up to 5 L/day.
–– Transjugular intrahepatic portosystemic shunt (TIPS).
–– Prophylaxis against variceal bleeding with nonselective β-blockers.
• Indications for a liver transplant: MELD scores 15 or more, recurrent ascites, variceal
bleeding, encephalopathy, hepatorenal syndrome, or hepatocellular carcinoma.
Contraindications include cardiopulmonary disease, malignancy outside the liver,
failure to stop alcohol or drug abuse, and acquired immunodeficiency syndrome
(AIDS).
• Treat other complications like variceal bleeding and hepatic encephalopathy.
Examiner: What is the mechanism of action of lactulose in hepatic encephalopathy?
Candidate: Due to the absence of the disaccharidase enzyme in the human small
intestine, lactulose (synthetic disaccharide) passes to the colon where it is catabolised
by the colonic bacteria to lactic acid, which lowers the colonic pH. This, in turn, converts
ammonia to ammonium ion, which leads to reduced colonic bacterial growth and plasma
ammonia concentration. Lactulose through its osmotic effect can reduce the transit time
for colonic bacteria.
Examiner: What is the difference between lactitol and lactulose?
Candidate: Lactitol is as effective as lactulose but is better tolerated and has fewer
side effects.
Examiner: How would you screen this patient for hepatocellular carcinoma?
Candidate: By the US abdomen every 6 months (α-fetoprotein is not recommended
 Haemochromatosis 99

because it typically starts to rise only after the vascular invasion has occurred). Also, it
has a high false-positive rate in patients with active hepatitis.
Examiner: When do you screen this patient for varices?
Candidate: Oesophagogastroduodenoscopy (OGD) screening for varices should be
performed as soon as cirrhosis is diagnosed.
Examiner: Are you aware of any recent drugs for the treatment of hepatitis C virus
infection with a very high response rate?
Candidate:
• Combined ledipasvir and sofosbuvir.
• Combined ombitasvir and dasabuvir with ribavirin.
Examiner: What are the indications to start prophylactic antibiotics in patients with
cirrhotic ascites?
Candidate:
• Any patient who has recovered from an episode of SBP should receive long-term
antibiotic prophylaxis.
• If the ascites protein level is low <15 g/L.
Examiner: What is the preferred antibiotic used for SBP prophylaxis?
Candidate: Norfloxacin.
Examiner: Suppose that this patient has a very low platelet count and he is going
for emergency surgery. Do you know any recent drug that can be used to elevate his
platelet count?
Candidate:
Avatrombopag: An oral thrombopoietin receptor agonist (TPO-RA), which was approved
in 2018 for adult patients with thrombocytopaenia due to CLD who are scheduled to
undergo a procedure.

Haemochromatosis
Common instructions:

•• This gentleman is being evaluated for newly diagnosed diabetes. Please examine his
abdominal system.
•• This gentleman is under evaluation for secondary infertility. Please examine his
abdominal system.
•• This gentleman complains of recurrent pain and swelling in his hands. Please
examine the abdominal system.

Common pitfalls
• Failure to spot hyperpigmentation during the examination of a patient with CLD
(Figure 4.19).
100 Part 4 Abdominal cases

Figure 4.19 Skin hyperpigmentation in a patient with chronic liver disease should raise the possibility of
haemochromatosis .

The typical presentation of the findings

This gentleman has hyperpigmented skin. He has jaundice. His abdominal examination
revealed nontender hepatomegaly with mild splenomegaly and evidence of ascites. The
most likely diagnosis is CLD secondary to haemochromatosis.

Important clues
Think twice before you diagnose haemochromatosis in women in the menstruating or
childbearing age. Menstruation usually protects against the development of frank signs of
haemochromatosis such as liver disease or hyperpigmentation.
Examiner: What is the basic defect in genetic haemochromatosis?
Candidate: Genetic haemochromatosis is inherited as an autosomal recessive condition.
It is characterised by increased total body iron due to increase in iron absorption from
the upper small intestine. This leads to the accumulation of iron in the tissues as the body
has no means of getting rid of excess iron. The gene involved lies on chromosome 6 called
the HFE gene. The HFE protein regulates the production of a protein called hepcidin
that determines how much iron is absorbed from the diet. Variants C282Y and H63D
of the HFE gene are the two polymorphisms most frequently associated with genetic
haemochromatosis.
Examiner: Which population and which age group is affected most by
haemochromatosis?
Candidate: Caucasian populations of the northern European origin between 40 and 60
years of age are typically affected.
Examiner: Which organs are affected in haemochromatosis?
 Haemochromatosis 101

Candidate:
• Liver: Hepatomegaly or frank cirrhosis.
• Pancreas: Diabetes mellitus.
• Thyroid: Hypothyroidism.
• Gonads: Hypogonadism and testicular atrophy.
• Skin: Hyperpigmentation and porphyria cutanea tarda.
• Heart: Heart failure.
• Skeletal: Commonly second and third MCP joints, chondrocalcinosis, and osteoporosis.
Examiner: What is ‘bronze diabetes’?
Candidate: A name given to the classic manifestation triad of haemochromatosis – skin
pigmentation, diabetes, and cirrhosis.
Examiner: How would you diagnose a patient with haemochromatosis?
Candidate:
• Serum transferrin saturation and ferritin level as screening tests.
• If the serum transferrin saturation and ferritin levels are high, undertake genetic testing
(C282Y and H63D).
• Liver biopsy: Not needed in C282Y homozygote patients with elevated transferrin
saturation and ferritin levels.
• MRI liver is a helpful noninvasive test to quantify hepatic iron content.
Examiner: How would you manage a patient with haemochromatosis?
Candidate:
• The main treatment is repeated phlebotomy to keep serum ferritin <50 µg/L and
transferrin saturation <50%.
• Iron chelating agents.
• Check blood sugar, thyroid function test (TFT), and gonadal function and treat, if
abnormal.
• Perform echocardiography and treat heart failure.
• Perform dual-energy X-ray absorptiometry (DEXA) scan and give drugs for
osteoporosis prevention and treatment.
• Screening for hepatocellular carcinoma (very high-risk for hepatocellular carcinoma)
and management of cirrhosis as in CLD.
• Family counselling and screening for the disease.
Examiner: What complications of haemochromatosis do you expect to improve with
phlebotomy?
Candidate:
• Liver disease including enzymes, degree of fibrosis, and oesophageal varices.
• Skin pigmentation.
Recovery from endocrine complications such as diabetes and gonadal function as well
as cardiac complications depends on the degree of damage to these organs. It is seen in
about a quarter of patients. There is no effect of phlebotomy on liver cirrhosis or the risk of
hepatocellular carcinoma.
102 Part 4 Abdominal cases

Primary biliary cirrhosis

Common instructions

•• This lady complains of fatigue and itching. Please examine her abdominal system.
•• This 50-year-old woman complains of itching. Please examine her abdominal system.
•• This lady complains of gritty sensation in her eyes. Please examine her abdominal
system.

Common pitfalls
• Failure to suspect PBC in middle-aged female patients with jaundice, itching, and/or
stigmata of CLD.
• Failure to spot xanthelasmas (Figure 4.9).
• Failure to explain the cause of gritty sensations in eyes due to sicca syndrome.

Important clues
• PBC patients in clinical examinations are exclusively women in middle or older age
with jaundice and pruritus with or without stigmata of CLD and portal hypertension.
• If you are asked by the examiner to examine the abdomen of a patient with pruritus,
the three main diagnoses you should consider are PBC, polycythaemia vera (PV), or
cholestatic jaundice from another cause.
• Think twice before you diagnose PBC in a male patient (female to male ratio is 12:1).

The typical presentation of the findings

This pleasant lady has xanthelasma in her face and multiple scratch marks. She appears
jaundiced with multiple spider angiomata over her chest. Her abdominal examination
revealed splenomegaly of 4 cm below the costal margin. The picture is consistent with
CLD, most likely secondary to PBC.
Examiner: What makes you suspect PBC in this woman?
Candidate:
• Being a middle-aged female.
• Presence of xanthelasmas.
• Presence of scratch marks suggestive of pruritus.
• Presence of dry eyes and mouth indicating associated sicca syndrome.
Examiner: What are the two most common symptoms of PBC?
Candidate: Fatigue and pruritus.
Examiner: How would you explain this patient’s gritty eye sensation?
Candidate: Sicca syndrome is common in patients with PBC.
Examiner: How would you investigate a patient with PBC?
Candidate:
• Elevated ALP is always present.
• Positive AMA in 95% of cases (the serologic hallmark).
 A patient with jaundice 103

• Increased immunoglobulin levels.

• Liver biopsy is needed in AMA-negative cases.
• Work-up for CLD as above.
Examiner: What are the diagnostic criteria for PBC?
Candidate: The diagnosis of PBC can be established, if two of three objective criteria are
present:
1. Serum AMA at titres ≥1:40.
2. Unexplained elevated ALP ≥1.5 times the upper normal value for over 24 weeks.
3. Compatible liver histology, specifically nonsuppurative cholangitis and interlobular
bile duct injury.
Examiner: How would you treat a patient with PBC?
Candidate:
• Ursodeoxycholic acid in adequate doses is the cornerstone of treatment:
–– It improves serum liver chemistries.
–– It may delay disease progression to severe fibrosis or cirrhosis.
–– It may prolong transplant-free survival.
• Management of pruritus:
–– Cholestyramine.
–– Rifampicin.
–– Opiate antagonist (naltrexone).
–– Antidepressants: Sertraline.
• Management of sicca syndrome:
–– Artificial tears, moisturisers, and saliva substitutes.
• Statins for hyperlipidaemia.
• Screening for hepatocellular carcinoma and management of cirrhosis as per CLD.
• DEXA scan, prevention, and treatment of osteoporosis.
• Avoid oral contraceptive pills (worsen cholestasis).
• Replacement of vitamins A, D, E, and K.
Examiner: Do you know any recent drug for the treatment of PBC that is used if
ursodeoxycholic acid fails?
Candidate: Obeticholic acid is a synthetic variant of the natural bile acid chenode­
oxycholic acid. It decreases bile acid synthesis and reabsorption. It has recently been
approved for the management of PBC, if the ursodeoxycholic acid fails or the patient could
not tolerate it.

A patient with jaundice

Common instructions

•• This 23-year-old gentleman complains of fatigue. Please examine his abdominal

system.
•• This 60-year-old gentleman complains of abdominal discomfort. Please examine his
abdominal system.
104 Part 4 Abdominal cases

Common pitfalls
• Failure to mention haemolysis as a cause of jaundice (particularly patients with
thalassaemia and typical thalassaemic faces).
• Failure to spot scratch marks due to itching (Figure 4.18).
• Forgetting alcohol and drugs (paracetamol) in the differential diagnosis.
• Forgetting Wilson’s disease in young patients.
• Failure to spot stigmata of CLD.
• Failure to spot xanthelasma in PBC or hyperpigmentation in haemochromatosis.
• Common scenarios in clinical examinations:
–– A young patient with jaundice (Wilson’s disease, thalassaemia, or drugs).
–– A middle-aged woman (PBC or autoimmune hepatitis).
–– A middle-aged man (cancer head of the pancreas, alcohol, or haemochromatosis).

The typical presentation of the findings

This gentleman appears cachectic. He is pale and has deep jaundice (Figure 4.20). There
are multiple scratch marks over the skin (Figure 4.18). Abdominal examination revealed
non-tender nodular hepatomegaly of 5 cm below the costal margin. There is no ascites and
no pitting oedema of the legs. Most likely, this patient has a cholestatic type of jaundice
along with hepatomegaly. Given the cachexia, pallor, and hepatomegaly, the most likely
cause of his cholestatic jaundice is a neoplasm of the head of the pancreas or the bile ducts
(cholangiocarcinoma).
Examiner: Can you name a condition other than jaundice that gives yellow
discolouration of the skin?
Candidate: Carotenaemia from excessive consumption of carotene-rich foods such as
carrots and sweet potatoes. Typically, carotenaemia starts in the palms and soles and
then spreads to the rest of the skin. Unlike jaundice, the sclera is spared.
Examiner: When do you see clinical jaundice?
Candidate: Jaundice is usually recognisable when the serum bilirubin levels exceed 2.5 or
3.0 mg/dL.
Examiner: How do you differentiate obstructive (cholestatic) jaundice from hepatic or
haemolytic causes?
Candidate:
• Pale stool (clay-coloured) and dark urine.
• Severe itching (Figure 4.18).

Figure 4.20 Deep jaundice in a patient with an

obstructive type of jaundice.
 A patient with jaundice 105

• Dark (green) jaundice (Figure 4.20).

• Conjugated hyperbilirubinaemia.
• Predominant elevation of alkaline phosphatase (ALP).
Examiner: Why does the stool become pale and urine dark in obstructive jaundice?
Candidate: In normal situations, bilirubin is excreted from the bile into the intestine
and is converted by intestinal bacteria into urobilinogen and stercobilinogen. The
stercobilinogen is responsible for the colour of the stool and the urobilinogen for the
colour of urine. In obstructive jaundice, the bilirubin does not reach the intestine
and therefore, no stercobilinogen is formed in the intestine leading to a pale stool and
no urobilinogen in the urine. Conjugated bilirubin that does not reach the intestine
due to biliary obstruction goes back into the circulation leading to conjugated
hyperbilirubinaemia and goes to the kidneys leading to dark urine. This is the reason
why we find decreased urobilinogen and increased bilirubin in the urine of patients with
obstructive jaundice.
Examiner: What are the causes of jaundice?
Candidate:
• Pre-hepatic (unconjugated and haemolytic):
–– Sickle cell anaemia, spherocytosis, thalassaemia, malaria, glucose-6-phosphate
dehydrogenase (G6PD) splenomegaly, and Gilbert’s syndrome.
• Hepatic:
–– Hepatitis: Viral, alcohol, autoimmune, drugs, infections, toxins, etc.
–– Cirrhosis.
–– Congestive heart failure (CHF).
• Post-hepatic (cholestatic):
–– Extrahepatic cholestasis:
■■ Gallbladder and biliary stones.
■■ Tumours: Cholangiocarcinoma – head of the pancreas.
■■ Sclerosing cholangitis.
■■ Ascariasis.
–– Intrahepatic cholestasis:
■■ Primary biliary cirrhosis.
■■ Alcohol.
■■ Drugs.
■■ Sepsis.
■■ Nonalcoholic steatohepatitis (NASH).
■■ Infiltrative diseases: Sarcoidosis, tuberculosis (TB), and amyloidosis.
■■ Dubin–Johnson syndrome.
Examiner: How would you differentiate Dubin–Johnson syndrome from other causes of
conjugated hyperbilirubinaemia?
Candidate: Dubin–Johnson syndrome is an autosomal recessive disorder characterised
by conjugated hyperbilirubinaemia with normal liver enzymes and LFTs. The jaundice is
usually mild and not associated with itching.
Examiner: What clinical features suggest that the cause of jaundice is unlikely due to
CLD?
Candidate:
• Presence of hepatomegaly.
106 Part 4 Abdominal cases

• Absence of splenomegaly and ascites (portal hypertension).

• Absence of stigmata of CLD.
Examiner: How helpful is an ultrasound of the abdomen in investigating obstructive
jaundice?
Candidate: It is a simple and noninvasive investigation, which will identify a dilated
common bile duct (CBD) suggesting extrahepatic biliary obstruction from biliary stones,
cholangiocarcinoma, or cancer of the head of the pancreas.
Examiner: How would you manage this patient?
Candidate:
• Take a proper history regarding alcohol consumption, drug ingestion particularly
paracetamol, IV drug abuse, travel history, sexual history, history of surgery, etc.
• LFTs: Total, direct, and indirect bilirubin, INR, aspartate aminotransferase (AST),
alanine aminotransferase (ALT), and ALP.
• Serum paracetamol level.
• US abdomen.
• Viral hepatitis serology.
• Autoimmune work-up AMA, ANA, ASMA, LKM for PBC, and autoimmune hepatitis.
• Iron, transferrin, and ferritin for haemochromatosis.
• Serum ceruloplasmin level, 24-hour urinary copper excretion for Wilson’s disease.
• Slit-lamp examination for KF rings (Wilson’s disease).
• α-1 antitrypsin level.
• Magnetic resonance cholangiopancreatography (MRCP), endoscopic retrograde
cholangiopancreatography (ERCP), and MRI.
• Cholestyramine for itching.
• Treat the underlying cause.

Thalassaemia major
Common instructions

•• This young gentleman complains of chronic fatigue and lethargy. Please examine his
abdominal system.

Common pitfalls
• Candidates frequently miss the typical thalassaemic faces of patients with thalassaemia
(Figures 4.2 and 4.3).
• Forget haemolytic anaemia as a differential diagnosis in a patient with jaundice and
hepatosplenomegaly.

Important clues
• The typical patient with thalassaemia major in clinical examinations is a patient with
jaundice, hepatosplenomegaly, and a classic thalassaemic face.
 Thalassaemia major 107

Figure 4.21 Hypopigmented scars in the abdomen

secondary to desferrioxamine injections in a patient
with thalassaemia.

• Haemolytic anaemia should always be considered in the differential diagnosis of

jaundice with hepatosplenomegaly.
• The typical thalassaemic face is an important clue to the diagnosis in the examination
and is easily missed by candidates (Figures 4.2 and 4.3).
• Large scars in the abdomen of a patient with thalassaemia are either due to
splenectomy as a treatment for thalassaemia or cholecystectomy due to bilirubin
stones (it may be a laparoscopy scar).
• There might be small multiple hypopigmented scars in the abdomen secondary to
desferrioxamine injections (desferrioxamine is used as a chelating agent of iron to
avoid iron overload due to repeated blood transfusions) (Figure 4.21).
• Heart disease secondary to iron overload is the most important cause of mortality in
patients with thalassaemia major.

The typical presentation of the findings

This gentleman has a thalassaemic face with frontal bossing, enlarged cheekbones,
and a protruding maxilla. The teeth are protruding and there is dental jumbling. He is
jaundiced and pale (Figures 4.2 and 4.3). There are multiple small hypopigmented scars
in the abdomen along with hepatosplenomegaly of 3 fingers below the costal margin.
These findings suggest the diagnosis of thalassaemia major.
Examiner: What do you mean by thalassaemic faces and what is the underlying pathology
behind them?
Candidate: The orofacial changes of thalassaemia are due to overexpansion of the bone
marrow associated with ineffective erythropoiesis. They are seen more in patients
who are not receiving adequate transfusion therapy. These orofacial changes include
(Figures 4.2 and 4.3):
• Frontal bossing.
• Enlarged cheekbones and a protruding maxilla giving the characteristic appearance of a
rodent or ‘squirrel-like’ face (avoid mentioning these descriptions in front of patients).
• Depressed nasal bridge.
• Dental protrusion involving the affected teeth along with dental jumbling.
108 Part 4 Abdominal cases

Examiner: What is the basic mechanism of β-thalassaemia?

Candidate: β-thalassaemia is an autosomal recessive disease characterised by
defective synthesis of the β-chain in the haemoglobin (Hb) due to a genetic mutation in
chromosome 11.
Examiner: What are the complications of β-thalassaemia major?
Candidate:
• Anaemia.
• Iron overload from a repeated blood transfusion.
• Bone marrow expansion from ineffective erythropoiesis and erythroid hyperplasia
leading to skeletal deformities.
• Gallbladder stones (bilirubin stones) from haemolysis.
• Heart failure secondary to iron overload and anaemia.
• Hepatic fibrosis and CLD from iron overload.
• Endocrine abnormalities from iron overload – diabetes, osteoporosis, hypothyroidism,
and hypogonadism.
• Growth retardation.
• Increased risk of infections due to repeated blood transfusion.
Examiner: Why does this patient have a midline scar in the abdomen?
Candidate: Most likely he has undergone splenectomy.
Examiner: What are the indications of splenectomy in thalassaemia major?
Candidate: Nowadays, splenectomy is rarely used in the treatment of thalassaemia major.
This is because of the improvement in transfusion management of thalassaemia and
the risk of infection and complications from splenectomy. Splenectomy is reserved for
patients in whom transfusion requirement exceeds 250 mL/kg/year and in those with
severe hypersplenism.
Examiner: Why does this patient have multiple small hypopigmented scars in the
abdomen (Figure 4.21)?
Candidate: These scars are most likely due to repeated desferrioxamine injections given
as an iron-chelating agent to prevent iron overload as a complication of repeated blood
transfusions in these patients. Desferrioxamine injections, when given subcutaneously,
can produce localised irritation, eschar, and crusting.
Examiner: What is the most common cause of mortality in thalassaemia major patients?
Candidate: Cardiac complications of iron overload are the most common causes of
mortality. They can result in heart failure and arrhythmia.
Examiner: How would you manage this patient?
Candidate:
• Request CBC, haemoglobin electrophoresis, and LFT.
• Genetic and family counselling and screening.
• US abdomen.
• Echocardiography and electrocardiogram (ECG).
• Repeated blood transfusion and the use of iron chelating agents are the mainstay
therapy for thalassaemia major.
• Bone marrow transplantation can cure the disease.
 Adult polycystic kidney disease 109

Examiner: When would you start long-term blood transfusion therapy in thalassaemia
major?
Candidate:
• Hb level <7 g/dL on two successive occasions.
• Patient growth or activity affected by the disease.
• Skeletal abnormalities from bone marrow expansion.
• Development of organ failures such as cardiac failure and oedema.
• Hb between 7 and 10 g/dL with any of the above clinical features.
Examiner: What is your target Hb when giving a blood transfusion?
Candidate: Blood transfusion may be given every 2–5 weeks to maintain pre-transfusion
Hb >9 g/dL, but post-transfusion Hb should not exceed 12 g/dL.

Adult polycystic kidney disease

Common instructions

•• This gentleman complains of abdominal pain. Please examine his abdominal system
to identify the cause of his symptom.
•• This patient complains of recurrent headache. Please examine his abdominal system.

Common pitfalls
• Misdiagnosing adult polycystic kidney disease (APKD) as hepatosplenomegaly (a very
common mistake).
• Failure to spot AV fistula in the arm (Figure 4.7).
• Failure to spot the presence of neck lines/scars from previous central lines.
• Failure to feel a kidney transplant.
Examiner: How do you differentiate an enlarged kidney from splenomegaly?
Candidate:
• Inability to get above the swelling in case of splenomegaly (no space between the
spleen and the costal margin).
• The kidney is ballotable.
• Presence of splenic notch.
• Percussion note is dull above splenomegaly and resonant above the enlarged kidney
due to the presence of the colon.
• Both move with respiratio.
Examiner: What are the possible causes of this patient’s loin/abdominal pain?
Candidate:
• Cyst haemorrhage.
• Nephrolithiasis.
• Urinary tract infection (UTI).
Examiner: Why does this patient has a recurrent headache?
110 Part 4 Abdominal cases

Candidate:
• Hypertension secondary to APKD.
• A cerebral aneurysm secondary to APKD.
Examiner: What are the mode of inheritance and the diagnostic criteria for APKD?
Candidate:
Mode of inheritance is AD and the diagnostic criteria are:
• At least two cysts in one kidney or one cyst in each kidney in an at-risk patient younger
than 30 years.
• At least two cysts in each kidney in an at-risk patient aged 30–59 years.
• At least four cysts in each kidney in an at-risk patient aged 60 years or older.
Examiner: What are the indications for MRA screening for intracranial aneurysms in
patients with APKD?
Candidate:
• Family history of intracranial aneurysms or haemorrhage.
• Symptoms that are suggestive of an intracranial aneurysm.
• High-risk occupations such as bus drivers and air pilots.
• Before major elective surgeries.
• Before anticoagulation therapy.
Examiner: What are the complications of APKD?
Candidate:
• Cyst haemorrhage.
• Recurrent UTI.
• Nephrolithiasis.
• Renal cancer.
• Hypertension.
• Renal failure.
• Extrarenal manifestations.
Examiner: What are the extrarenal manifestations of APKD?
Candidate:
• Cysts in the liver (up to 70%).
• Intracranial aneurysm (5–10%).
• Colonic diverticulosis.
• Abdominal wall hernias.
• Mitral valve prolapse.
Examiner: What is the risk of developing ESRD in APKD?
Candidate: Risk increases with age and occurs in 50–75% by the age of 75 years.
Examiner: How would you manage this patient?
Candidate:
• CBC (increased haematocrit), urine analysis, urea and electrolytes, and US abdomen.
• Control hypertension: ACE inhibitor and angiotensin receptor blocker (ARB) are the
drugs of choice because of increase in renin–angiotensin system activity in these
patients.
 Renal transplant 111

• Manage renal failure if present.

• Treat UTI.
• Family screening and counselling.
Examiner: What are the indications for surgery in APKD?
Candidate:
• Haemorrhage into a cyst.
• Very large kidneys.
• Development of renal cancer.
Examiner: Do you know any recent medication that is proved helpful in APKD?
Candidate: Tolvaptan is a vasopressin receptor antagonist that proves helpful to reduce
the formation of new cysts and reduce the rate of decline in kidney function.

Renal transplant
Common instructions

•• This lady presented with diarrhoea for 2 weeks. Please examine her abdominal system.
•• This gentleman has hearing difficulty. Please examine his abdominal system.

Common pitfalls
• Failure to spot the presence of AV fistula (Figure 4.7), neckline scars, or PD scar.
• Failure to observe steroid and cyclosporine side effects (Cushing’s features, hirsutism,
or gingival hyperplasia).
• Failure to expose enough to see a scar in the right iliac fossa (Figure 4.22).
• Failure to spot that the patient is using a hearing aid (Alport syndrome) (Figure 4.23).

Figure 4.22 Scar of renal transplant surgery in the

right iliac fossa.
112 Part 4 Abdominal cases

Figure 4.23 Patients with Alport syndrome may have

hearing loss.

Important clue
Make sure you do not miss features of associated Cushing’s syndrome from long-term
exogenous steroid use in patients with a renal transplant. This is a common association
that is easily missed by candidates.

The typical presentation of the findings

Candidate 1: This pleasant lady appears comfortable. She has scars in the neck most
likely from previous central lines. She has a working AV fistula in her left arm. She has
a Cushingoid appearance with thin skin and few bruises. An abdominal examination
revealed a right iliac fossa scar with a palpable mass in the right iliac fossa suggestive of a
kidney transplant. My diagnosis is a renal transplant with Cushing’s syndrome secondary
to exogenous steroid use.
Candidate 2: This gentleman has hearing aids in both ears (Figure 4.23). He has scars in
his neck most likely from previous central lines used for haemodialysis. His abdominal
examination revealed a right iliac fossa scar with a palpable mass in the right iliac fossa
suggestive of a renal transplant. I suggest the diagnosis of a renal transplant secondary
to Alport syndrome. I would like to complete my examination by performing an eye
examination and ask about family history.
Examiner: Why does this patient have diarrhoea?
Candidate:
• Drug-induced diarrhoea (mycophenolate).
• Cytomegalovirus (CMV) colitis.
• Microsporidia, isospora, or cryptosporidial infections.
• Pseudomembranous colitis (Clostridium difficile infection).
• Adrenal insufficiency secondary to sudden discontinuation or reduction in steroid dose.
Examiner: What are the common reasons for renal transplantation?
Candidate:
• Diabetes mellitus.
• Glomerulonephritis.
 Renal transplant 113

• APKD.
• Hypertension.
Examiner: Which diseases tend to recur in the transplanted kidney?
Candidate:
• IgA nephropathy.
• Mesangiocapillary glomerulonephritis.
• Focal segmental glomerulosclerosis (FSGS).
• Hereditary oxalosis.
• Membranous glomerulonephritis.
Examiner: What are the signs indicating that the graft is not functioning?
Candidate:
• Signs of volume overload.
• AV fistula or PD catheter [the presence of functioning AV fistula or PD catheter in a
patient with renal transplant is an important clue to the candidate that the graft may not
be functioning (Figures 4.7 and 4.15). Candidates often miss that in the discussion].
• Proteinuria.
• Worsening renal function.
• Tenderness over the graft.
Examiner: What are the contraindications of renal transplantation?
Candidate:
• Metastatic cancer.
• Ongoing or recurring infections that are not effectively treated.
• Severe cardiac or peripheral vascular disease.
• Hepatic insufficiency.
• Short life expectancy.
• Noncompliance.
• AIDS: Patient should have CD4 count >200 cells/µL for >6 months, undetectable viral
RNA, on antiretroviral >3 months and no ongoing infection.
Examiner: What are the complications of renal transplantation?
Candidate:
• Infections.
• Renal artery thrombosis or stenosis.
• Lymphocele.
• Stenosis of ureter and urine leak.
• Allograft dysfunction and rejection.
• Drug side effects.
• Increased risk of malignancy: Lymphomas and Kaposi sarcoma.
Examiner: What are the types of transplant rejection?
Candidate:
• Hyperacute rejection: This occurs within hours of the transplant (treatment is
nephrectomy).
• Acute rejection: This occurs within the first 6 months after transplantation.
• Chronic rejection: This occurs >1 year after transplantation.
Examiner: What factors determine prognosis/success in renal transplantation?
114 Part 4 Abdominal cases

Candidate:
• Type of transplant [human leucocyte antigens (HLA) matched from live related donors
carries the best prognosis].
• Age of the donor and recipient.
• Serum creatinine and glomerular filtration rate (GFR) after transplantation.
• The number of acute rejection episodes.
• Kidney preservation methods (prolonged preservation carries worse prognosis).
• Reason for transplantation (diseases that tend to recur).
Examiner: Have you observed anything in this patient that provides a clue regarding the
reason for renal transplant?
Candidate: The patient is using a hearing aid and this suggests that the cause might be
Alport syndrome.
Examiner: What is the mode of inheritance in Alport syndrome?
Candidate: The most common mode of inheritance in Alport syndrome is X-linked
dominant and rarely autosomal recessive or dominant.
Examiner: What is the basic abnormality in Alport syndrome?
Candidate: Defective synthesis of type IV collagen that is responsible for the synthesis of
the basement membrane (basement membrane is present in kidneys, eyes, and inner ear).
Examiner: How would you manage this patient?
Candidate:
• Immunosuppressant medications.
• Regular monitoring of kidney function.
• Osteoporosis prophylaxis.
• Vaccination.
• Patient education and counselling.
• Family history and counselling in case of Alport syndrome.
Examiner: What do you know about Alport syndrome?
Candidate: Alport syndrome is the second most common cause of inherited kidney diseases
after APKD. It is an inherited disease caused by mutations in the collagen ‘COL4A3, COL4A4,
and COL415’ genes responsible for collagen type IV biosynthesis. These mutations result
in abnormal type IV collagen that is an important structure of the basement membrane in
the glomeruli that make it leaky and hence red cells and proteins leak into the urine. Type
IV collagen is also present in the ears and the eyes. The most common mode of inheritance
(and the most aggressive) is X-linked in 85% of cases. It can also be inherited as autosomal
recessive (10%) or autosomal dominant (5%). Females with an X-linked type of Alport
syndrome can have a milder form of the disease. Alport syndrome is characterised by:
• Renal disease: Haematuria (present in almost all patients), proteinuria, hypertension,
and progressive loss of kidney function resulting in end-stage renal disease.
• Sensorineural deafness: The majority of patients will be deaf by the age of 40 years
(Figure 4.23).
• Ocular abnormalities:
–– Unilateral or bilateral anterior lenticonus (cone-shaped eye lens). Bilateral
lenticonus is a pathognomonic feature for Alport syndrome.
–– Dot and fleck retinopathy.
 Hepatosplenomegaly 115

Diagnosis and management:

• Clinical findings.
• Family history and family counselling.
• Genetic testing.
• Urine testing for haematuria and proteinuria.
• Referral to nephrology, ophthalmology, and otolaryngology.
• ACE inhibitors or ARBs to control blood pressure, reduce proteinuria, and delay the
progression of kidney disease.

Hepatosplenomegaly
Common instructions

•• This lady/gentleman complains of increasing fatigue and lethargy. Please examine

her/his abdominal system.

Common pitfalls
• Failure to feel the liver because of improper technique.
• Misdiagnosing hepatosplenomegaly as APKD.
• Mistaking the contracted rectus abdominis as organomegaly.
• Failure to recognise stigmata of CLD, particularly spider nevi over the shoulders.

The typical presentation of the findings

Candidate 1: This pleasant lady has pallor. Her abdominal examination revealed
a hepatosplenomegaly of 4 cm below the costal margins. She has anaemia and
hepatosplenomegaly for which there are important causes.
Candidate 2: This gentleman has pallor along with massive splenomegaly for which there
are important causes (Figure 4.16).
Common causes of hepatosplenomegaly in clinical examinations:
• Myeloproliferative disorders:
–– Chronic myeloid leukaemia.
–– Myelofibrosis.
–– Polycythaemia vera.
• Lymphoproliferative disorders:
–– Lymphoma.
–– Chronic lymphocytic leukaemia.
• Portal hypertension (from liver cirrhosis or Budd–Chiari).
• Do not forget haemolytic diseases such as thalassaemia.
Other causes:
• Infections:
–– Viral: EBV, CMV, HBV, HCV, HIV, etc.
–– Brucellosis.
–– Malaria.
–– Leishmaniasis.
–– Tuberculosis.
116 Part 4 Abdominal cases

• Autoimmune: Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA).

• Sarcoidosis.
• Metabolic: Gaucher’s disease and amyloidosis.
• Haemolytic anaemias: Autoimmune, thalassaemia, and haemoglobinopathies.

Massive Splenomegaly
Causes of massive splenomegaly:
• Chronic myeloid leukaemia.
• Myelofibrosis.
• Visceral Leishmaniasis (kala-azar).
• Malaria.
• Gaucher’s disease.

Hepatomegaly without
splenomegaly
Causes of isolated hepatomegaly
• Infections: CMV, EBV, viral hepatitis, and brucellosis.
• Malignancy: Hepatocellular carcinoma or metastases.
• Autoimmune hepatitis and SLE.
• Alcoholism.
• NAFLD.
• Haemochromatosis.
• Sarcoidosis.
• Congestive heart failure.
Examiner: What are the weight, location, and size of the spleen?
Candidate: The weight of the spleen is 150 g, length is 11 cm, and it is located between the
9th and 11th ribs.
Examiner: How much does the spleen need to be enlarged to be palpable?
Candidate: Three times its size or more.
Examiner: How would you define massive splenomegaly?
Candidate: When the size of the spleen >1,000 g, >20 cm on ultrasonic examination,
extending to the left lower quadrant, or crossing the midline to the right side of the
abdomen.
Examiner: What are the functions of the spleen?
Candidate:
• Plays a part in the immune system (produces immunoglobulins and lymphocytes).
• Removal of old red blood cells.
• Removal of bacteria.
 Primary myelofibrosis 117

Examiner: Which types of organisms commonly cause infections in a splenectomised

patient?
Candidate: Bacteria, particularly polysaccharide encapsulated bacteria, and protozoa.
Examiner: What are the common vaccinations given to splenectomised patients?
Candidate: Pneumococcal vaccine, Haemophilus influenzae type b (Hib) vaccine,
Meningococcal vaccine, and influenza vaccine.

Primary myelofibrosis
Common instructions

•• This gentleman complains of fatigue. Please examine his abdominal system.

•• This gentleman complains of abdominal discomfort. Please examine his abdominal
system.

Common pitfalls
• Missing the presence of anaemia.

Important clues
• Myelofibrosis: Probably the most common cause of massive splenomegaly in clinical
examinations.
• The patient usually has huge splenomegaly, hepatomegaly, and anaemia.
• The enlarged spleen in myelofibrosis may even be appreciated by abdominal
inspection (Figure 4.16).

The typical presentation of the findings

This gentleman has pallor. His abdominal examination revealed massive splenomegaly
that is crossing the midline reaching the right lower abdomen. The most likely diagnosis
is primary myelofibrosis (PMF). However, some other conditions can also cause massive
splenomegaly.
Examiner: What could be the causes of abdominal discomfort in myelofibrosis?
Candidate:
• Massive splenomegaly.
• Splenic infarction.
• Portal or mesenteric vein thrombosis.
• Hyperuricaemia and renal stones.
Examiner: Which diseases are included under the term myeloproliferative neoplasms?
Candidate:
• Primary myelofibrosis.
• Chronic myelogenous leukaemia (CML).
118 Part 4 Abdominal cases

• Polycythaemia vera.
• Essential thrombocytosis.
• Chronic neutrophilic leukaemia.
• Chronic eosinophilic leukaemia.
• Systemic mastocytosis.
Examiner: What are the mechanisms of anaemia in myelofibrosis?
Candidate:
• Ineffective erythropoiesis and bone marrow malfunction.
• Splenomegaly.
• Bleeding from thrombocytopaenia.
Examiner: What are the complications of myelofibrosis?
Candidate:
• Thrombotic episodes such as portal vein thrombosis.
• Hyperuricaemia and gout.
• Anaemia.
• Infections.
• Acute leukaemic transformation: The 10-year risk can reach up to 30%. The presence
of high blast cells in peripheral blood of 2% or more is an important predictor of
leukaemic transformation.
Examiner: How would you investigate this patient?
Candidate:
• CBC: Anaemia with thrombocytopaenia and leucopaenia (initially there may be
leucocytosis and thrombocytosis).
• Peripheral smear shows tear drop cells and a leucoerythroblastic picture.
• High ALP, vitamin B12, and lactate dehydrogenase (LDH).
• JAK2 mutation.
• Bone marrow examination: Often dry tap, increase in megakaryocytes and presence of
fibrosis with a hypocellular marrow on biopsy.
Examiner: What are the frequencies of JAK2 (Janus kinase) mutations in PV, essential
thrombocythaemia (ET), and myelofibrosis?
Candidate: The frequency is 95% in PV, 60% in ET, and 60% in PMF.
Examiner: What is the prognosis of PMF?
Candidate: The prognosis is generally poor with a median survival of 5–7 years after
diagnosis. Allogenic stem cell transplantation is the only curative treatment.
Examiner: What factors determine the prognosis in PMF?
Candidate:
• Age >65 years.
• Anaemia: Hb <10 g/dL.
• Presence of constitutional symptoms.
• WBC >25,000.
• Blasts of 1% or more.
Examiner: This patient has severe abdominal discomfort. What treatment may be used to
reduce the size of the spleen and relieve his abdominal discomfort?
 Polycythaemia vera 119

Candidate: Treatment options used to reduce the size of the spleen include:
• JAK2 inhibitors: Ruxolitinib (recently the treatment of choice).
• Hydroxyurea.
• Splenic irradiation: If drugs fail.
• Splenectomy as the last option.
Examiner: What are the other treatment options for patients with PMF?
Candidate:
• Correct anaemia (erythropoietin).
• Aspirin to prevent thrombosis.
• JAK2 inhibitors.
• Hydroxyurea.
• Allogeneic stem cell transplantation: This is the only and definitive treatment that can
result in disease cure and prolongation of survival.
Examiner: What are the diagnostic criteria for myelofibrosis?
Candidate: World Health Organization (WHO) diagnostic criteria for overt PMF:

Major criteria
• Presence of megakaryocytic proliferation and atypia, accompanied by either reticulin
and/or collagen fibrosis grades 2 or 3.
• Not meeting WHO criteria for ET, PV, BCR-ABL1 CML, myelodysplastic syndromes, or
other myeloid neoplasms.
• Presence of JAK2, CALR, or MPL mutation or in the absence of these mutations,
presence of another clonal marker, or absence of reactive myelofibrosis.

Minor criteria
Presence of at least one of the following, confirmed in two consecutive determinations:
• Anaemia not attributed to a comorbid condition.
• Leucocytosis ≥11 × 109/L.
• Palpable splenomegaly.
• LDH increased to the above upper normal limit of the institutional reference range.
• Leucoerythroblastosis.
(Diagnosis of overt PMF requires meeting all three major criteria, and at least one minor
criterion).

Polycythaemia vera
Common instructions

•• This gentleman complains of generalised itching. Please examine his abdominal

system.
•• This gentleman complains of recurrent dizziness and headache. Please examine his
abdominal system.
120 Part 4 Abdominal cases

Figure 4.24 Plethoric face may suggest polycythaemia

vera in a patient with splenomegaly.

Common pitfalls
Failure to recognise the plethoric face (Figure 4.24) and skin colour of patients with PV.

Important clue
• If you are asked to examine the abdomen of a patient with pruritus, the three main
diagnoses to be suspected are PBC, PV, or cholestatic jaundice from other causes.
• PV may present in the clinical examination as a stroke, skin examination for
generalised itching, retinal vein thrombosis, or rarely portal vein thrombosis or Budd–
Chiari syndrome.

The typical presentation of the findings

This gentleman has a plethoric face, cherry red tongue, conjunctival injection, red nose,
ear lobes, and palmar erythema. Examination of his abdomen revealed a splenomegaly
3 cm below the costal margin. The most likely diagnosis is PV. I would like to measure his
blood pressure.
Examiner: What are the diagnostic criteria for PV?
Candidate:
• Major WHO criteria are:
–– Haemoglobin >16.5 g/dL in men and >16 g/dL in women, or haematocrit > 49%
in men and >48% in women, or red cell mass >25% above mean normal predicted
value.
–– Bone marrow biopsy showing hypercellularity for age with trilineage growth
(panmyelosis) including prominent erythroid, granulocytic, and megakaryocytic
proliferation with pleomorphic, mature megakaryocytes (differences in size).
–– Presence of JAK2V617F or JAK2 exon 12 mutations.
• The minor WHO criterion is:
–– Serum erythropoietin level below the reference range for normal.
(Diagnosis requires meeting either all three major criteria or the first two major criteria
and the minor criterion).
Examiner: What might cause abdominal pain in a patient with PV?
Candidate:
• Budd–Chiari syndrome.
• Mesenteric thrombosis.
 Gaucher’s disease type 1 121

• Peptic ulcer disease.

• Splenomegaly.
Examiner: What are the complications of PV?
Candidate:
• Hyperviscosity symptoms leading to dizziness, headache, and visual blurring.
• Thrombotic episodes.
• Hyperuricaemia and gout.
• Bleeding due to abnormal platelet function.
• Acute leukaemic transformation.
Examiner: How would you manage this patient?
Candidate:
• CBC.
• ALP, LDH, uric acid level, and B12 level.
• Serum erythropoietin level.
• JAK2 mutation.
• US abdomen.
• Phlebotomy: Keep haematocrit below 45%.
• Aspirin to prevent thrombosis.
• Ruxolitinib (JAK2 inhibitor).
• Hydroxyurea, interferon-α, or busulfan.

Gaucher’s disease type 1

Common instructions

•• This 20-year-old man complains of chronic fatigue and delayed puberty. Please
examine his gastrointestinal system.

Common pitfalls
• Failure to include Gaucher’s disease (GD) in the differential diagnosis of
hepatosplenomegaly or massive splenomegaly particularly in young patients with
clinical evidence of growth retardation and wasting.
• Candidates think that GD occurs only in children.

The typical presentation of the findings

This young gentleman appears thin and short with obvious muscle wasting. He is pale
and has some ecchymotic patches over his skin. Abdominal examination revealed
abdominal distension with enlarged spleen of 10 cm below the costal margin and
enlarged liver of 8 cm below the costal margin with no clinical evidence of ascites.
There are many differential diagnoses in this case (see the differential diagnosis of
hepatosplenomegaly). Being young with delayed puberty, growth retardation, and huge
splenomegaly, GD is a possibility.
122 Part 4 Abdominal cases

Examiner: What is the basic abnormality in GD?

Candidate: Gaucher’s disease is an autosomal recessive genetic disorder (lysosomal
storage disease). It is caused by a deficiency of glucocerebrosidase (GCase) enzyme,
which results in abnormal accumulation of its substrate, glucosylceramide (glycolipid) in
macrophages.
Examiner: What is the age of onset in GD1?
Candidate: GD1 can manifest at any age. The median age at diagnosis is 10–20 years.
Examiner: What are the common clinical manifestations of GD1?
Candidate:
• Fatigue is the most common.
• Growth retardation.
• Delayed puberty.
• Splenomegaly is observed in >90% of patients and is sometimes massive.
• Hepatomegaly is noted in 60–80% of patients.
• Up to 40% of GD1 patients have a focal lesion in the liver and/or spleen. ‘Gaucheroma’,
which may be mistaken for malignancy.
• Gallbladder cholesterol stones.
• Anaemia.
• Thrombocytopaenia with a bleeding tendency.
• Painful bone crises, bone infarcts, and avascular necrosis are probably associated with
ischaemic vaso-occlusive phenomena.
• Osteopaenia and osteoporosis.

Other rare manifestations

• Pulmonary complications: Fibrosis.
• Renal: Glomerulonephritis.
• Amyloidosis.
Note: Neurological complications, unlike other types of GD, are rare in GD1.
Examiner: How would you confirm the diagnosis of GD1 and treat it?
Candidate:
• The diagnosis of GD must be confirmed by establishing deficient GCase enzyme
activity in total leucocytes or mononuclear cells, or cultured fibroblasts. The residual
enzyme activity is usually ~10–15% of the normal value.
• Bone marrow aspiration and biopsy are important in the diagnosis and it typically
shows the presence of ‘Gaucher cells’.
• Genetic testing for the gene encoding Gcase (GBA1) (located on the long-arm of
chromosome 1 – ‘1q21’).
• Treatment includes enzyme replacement therapy (ERT) with recombinant
glucocerebrosidases (imiglucerase) in GD1.
• If the patient cannot tolerate ERT, a substrate reduction therapy (SRT) to reduce
excess cell glucosylceramide by decreasing its production with an inhibitor of
glucosylceramide synthase (miglustat).
 A patient with ascites 123

A patient with ascites

Common instructions

•• This lady complains of abdominal discomfort. Please examine her abdomen.

•• This gentleman complains of fatigue. Please examine his gastrointestinal system.

Common pitfalls
• An improper technique for performing shifting dullness.
• Missing coexisting organomegaly or stigmata of CLD.
• Forgetting the causes of ascites in the absence of leg oedema.

The typical presentation of the findings

Candidate 1: This pleasant lady appears cachectic and pale. Examination of the abdomen
revealed a positive shifting dullness but no organomegaly. There is no pedal oedema
and no stigmata of CLD. The diagnosis is ascites with anaemia. The most likely cause is a
neoplastic process. Another diagnostic possibility is abdominal TB.
Candidate 2: This gentleman appears comfortable. He has some stigmata of CLD in the
form of spider angiomata, leuconychia, scanty abdominal and chest hair, and jaundice. His
abdominal examination revealed an entry site for paracentesis, a splenomegaly 3 cm below
the costal margin, and a positive shifting dullness suggestive of ascites (Figure 4.25).
Examiner: What is the most common cause of ascites?
Candidate: Liver cirrhosis and portal hypertension.
Examiner: What are the five most common causes of ascites?
Candidate:
1. Liver cirrhosis and portal hypertension.
2. Congestive heart failure.

Figure 4.25 Ascites (observe the site of paracentesis,

everted umbilicus, and the yellow skin).
124 Part 4 Abdominal cases

3. Malignancy.
4. Tuberculosis.
5. Nephrotic syndrome.
Examiner: Can you name some other causes of ascites?
Candidate:
• Constrictive pericarditis.
• Portal vein thrombosis.
• Budd–Chiari syndrome.
• Parasites (strongyloidiasis).
Examiner: Which type of malignancies can cause isolated ascites?
Candidate:
• Abdominal lymphoma.
• Gynaecologic: Ovarian and uterine.
• Gastrointestinal: Gastric, pancreatic, colorectal, and hepatic.
• Others: Breast and lung.
Examiner: What is the importance of serum-ascites albumin gradient (SAAG) in
investigating the cause of ascites?
Candidate:
• SAAG >1.1 g/dL indicates that the cause of ascites is portal hypertension (accuracy 97%).
• SAAG <1.1 g/dL indicates the cause is not portal hypertension. Examples of low SAAG
ascites are malignant ascites and TB ascites.
Examiner: Do you know some other conditions that may cause high SAAG ascites other
than portal hypertension?
Candidate: In general, high SAAG ascites is suggestive of portal hypertension (accuracy
97%). However, occasionally high SAAG ascites may be seen in patients with CHF treated
by diuretics and patients with myxoedema.
Examiner: How would you diagnose chylous ascites?
Candidate: Chylous ascites gives a milky appearance with a triglyceride level >110 mg/dL.
Examiner: Which conditions cause chylous ascites?
Candidate: Chylous ascites occurs due to disruption of the lymphatics. The causes
include:
• Malignancies (the most common): Lymphoma, pancreatic, breast, colonic, ovarian,
testicular, and renal malignancies.
• Tuberculosis.
• Abdominal surgery: Repair of abdominal aortic aneurysm and deep lymph node
dissection.
• Abdominal trauma.
• Peritoneal dialysis.
• Chylous ascites may rarely be observed in the setting of cirrhosis.
Examiner: Which conditions may cause ascites without pedal oedema?
Candidate: Ascites in the absence of pitting pedal oedema can be seen in:
• Malignancy.
• Tuberculosis.
 A patient with ascites 125

• Constrictive pericarditis.
• Sometimes cirrhosis.
Examiner: Which conditions commonly cause ascites with pitting leg oedema?
Candidate: Ascites with pitting pedal oedema is usually seen in:
• Congestive heart failure.
• Nephrotic syndrome.
• Liver cirrhosis.
Examiner: What is the mechanism of ascites in liver cirrhosis?
Candidate:
• Portal hypertension leading to splanchnic vasodilatation.
• Hypoalbuminaemia reduces plasma oncotic pressure and leads to extravasation of
fluid from the plasma to peritoneal fluid.
Examiner: What are the different mechanisms by which malignancies cause ascites?
Candidate:
• Peritoneal spread.
• Obstruction of lymphatics causing chylous ascites.
• Tumour thrombosis resulting in Budd–Chiari syndrome or portal vein thrombosis.
Examiner: What is the portal venous pressure at which ascites starts to develop?
Candidate: >12 mmHg
Examiner: What is the most sensitive clinical sign that suggests the presence of ascites?
Candidate: Dull percussion note over the flanks (flank dullness) (present in about 90% of
cases of ascites) and shifting dullness are the two most sensitive signs.
Examiner: What is the most specific clinical sign for ascites?
Candidate: The fluid thrill is the most specific sign but is less sensitive.
Examiner: In which conditions other than ascites can you elicit fluid thrill or wave sign?
Candidate:
• Tense ascites.
• Large ovarian cysts.
• Large hydrated cysts.
• Pregnancy with polyhydramnios.
Examiner: How much fluid should be present in the peritoneal space to be able to detect
shifting dullness?
Candidate: >500 mL.
Examiner: Do you know any other technique to detect ascites clinically, if the fluid is
<500 mL?
Candidate: The puddle sign (may be present when the amount of ascites is as little as
120 mL). But this sign has a low sensitivity.
Examiner: What is the meaning of puddle and how would you perform the puddle sign?
Candidate: A puddle is a small collection of water on the ground after a rain. Let the patient
stay in a prone position for a few minutes and then to raise themselves on elbows and knees.
126 Part 4 Abdominal cases

Start percussion over the flanks and then over the most dependent part of the abdomen
(centre of the abdomen). The puddle sign is said to be positive, if you can hear a resonant
note over the flanks and a dull note over the dependent part of the abdomen (the puddle).
Examiner: What clinical features may suggest that the cause of ascites is malignancy
rather than liver cirrhosis?
Candidate:
• Presence of abdominal pain.
• Absence of pedal oedema.
• Absence of stigmata of CLD (Figures 4.1 and 4.10).
• Presence of supraclavicular lymph node enlargement.
• SAAG <1.1 g/dL.
Examiner: How would you diagnose SBP?
Candidate: Ascitic fluid polymorphonuclear leucocyte count >250 cells/mm3.
Examiner: Which organisms commonly cause SBP?
Candidate: The most common bacteria causing SBP are gram-negative bacteria (such as
Escherichia coli and Klebsiella pneumoniae) and some gram-positive bacteria (such as
Streptococcus pneumoniae). Culture-negative SBP is seen in up to 50% of cases.
Examiner: What are the most reliable signs that determine the prognosis of cirrhotic
patients with ascites?
Candidate:
• Presence of hyponatraemia.
• Low arterial pressure.
• Increased serum creatinine.
• Low urine sodium.
Examiner: How would you manage this patient?
Candidate:
• Obtain a proper history to determine the aetiology such as liver disease, blood
transfusion, sexual history, drug abuse, old TB, malignancy, etc.
• Ultrasound of the abdomen.
• CBC, LFT, urea and electrolytes, and urine protein.
• Paracentesis: Look for appearance, cell count, protein, albumin, glucose, SAAG, Gram
stain and culture, cytology, triglyceride, and bilirubin level.
• Treat the underlying cause.
• Salt restriction to 80–120 mmol/day.
• Spironolactone combined with furosemide.
• Therapeutic paracentesis with albumin replacement.
• TIPS and liver transplantation in refractory ascites due to liver cirrhosis
• Prophylaxis for SBP in cirrhotic ascites.
Examiner: What are the indications to start prophylactic antibiotics in patients with
cirrhotic ascites?
Candidate:
• Any patient who has recovered from an episode of SBP should receive long-term
antibiotic prophylaxis.
• If the ascites protein level is low (<15 g/L).
 Lymphadenopathy 127

Examiner: What is the preferred antibiotic used for SBP prophylaxis?

Candidate: Norfloxacin.
Examiner: Which drugs should be avoided in ascites due to liver cirrhosis?
Candidate:
• NSAIDs: Cause renal failure and hyponatraemia.
• ACE inhibitors: Cause hypotension and renal failure.
• Alpha-blockers: Prazosin.
• Dipyridamole.
• Aminoglycosides.

Lymphadenopathy
Common instructions

•• This gentleman complains of fatigue. Please examine his gastrointestinal system.

Common pitfalls
• Failure to feel the enlarged lymph node (Figure 4.26).
• Failure to observe the scar of a lymph node biopsy (Figure 4.26).

Typical presentations of the findings

This gentleman appears comfortable. He is pale with bilateral enlarged cervical lymph
nodes that are firm, rubbery, painless, mobile, and not attached to the underlying

Figure 4.26 Cervical lymphadenopathy (observe the

biopsy scar).
128 Part 4 Abdominal cases

structures. He has also hepatosplenomegaly of 3 fingers below the costal margin. My

findings are suggestive of anaemia with lymphadenopathy and hepatosplenomegaly for
which there are several causes.
Examiner: Why did you say generalised lymphadenopathy? How do you define
generalised lymphadenopathy?
Candidate: The term generalised lymphadenopathy is used when lymph nodes are
enlarged in two or more noncontiguous areas.
Examiner: What are the causes of lymphadenopathy?
Candidate:
• Malignancies:
–– Lymphomas.
–– Leukaemias.
–– Metastatic carcinomas.
–– Kaposi sarcoma.
• Infections:
–– Bacterial: Brucellosis, typhoid, syphilis, tularaemia, etc.
–– Mycobacterial: Tuberculosis.
–– Viral: CMV, EBV, HIV, rubella.
–– Fungal: Histoplasmosis.
–– Parasitic: Toxoplasmosis.
• Autoimmune disorders: SLE
• Miscellaneous: Sarcoidosis, Kikuchi, medications (e.g. phenytoin and allopurinol),
storage diseases (Gaucher’s disease and Niemann–Pick disease).
Examiner: Can you name the different groups of lymph nodes?
Candidate:
• Submental.
• Submandibular.
• Jugular.
• Supraclavicular.
• Posterior cervical.
• Suboccipital.
• Postauricular.
• Axillary.
• Epitrochlear.
• Inguinal.
Examiner: When do we say that the lymph node is enlarged?
Candidate: If the size >1 cm in cervical or >0.5 cm in axillary or epitrochlear.
Examiner: Which lymph node group, if enlarged, has the highest probability for
malignancy?
Candidate: Supraclavicular lymph nodes.
Examiner: In which type of malignancies do supraclavicular lymph nodes enlarge?
Candidate: Left supraclavicular nodes (Virchow’s lymph nodes) receive supply from
the abdomen and thorax and are enlarged in malignancies of the abdominal and pelvic
organs such as stomach, gallbladder, pancreas, kidneys, testes, prostate, or ovaries.
 Liver transplant 129

Right supraclavicular nodes receive supply from the mediastinum and are enlarged
in malignancies related to the mediastinum, lungs, or oesophagus.
Examiner: How would you manage this patient?
Candidate:
• CBC, differential leucocyte count (DLC), and peripheral blood smear.
• Urea, electrolytes, and LFT.
• Serum LDH (lymphoma).
• Radiology: Chest X-ray/CT scan.
• Autoimmune work-up, if there is suspicion of SLE.
• Lymph node biopsy: Excisional biopsy is preferred to obtain enough samples to perform
other tests such as flow cytometry and chromosomal analysis.
• Treat the underlying cause.

Liver transplant
Common instructions

•• This gentleman has uncontrolled blood pressure. Please examine his abdominal
system.

Common pitfalls
• Some candidates, particularly from countries with no facilities for liver transplantation,
are not familiar with the Mercedes-Benz scar (Figure 4.12).
• Some candidates may not know the T-tube and think it is an ascitic drain.

Important clues
• The presence of a Mercedes-Benz incision scar in the abdomen is suggestive of liver
transplantation (Figure 4.12).
• In the initial few weeks after transplantation or if there are biliary complications from
liver transplantation, you may see also a T-tube for biliary drainage.
• Hepatomegaly and signs of CLD may be present.

The typical presentation of the findings

This gentleman appears comfortable and not in distress. He has a Mercedes-Benz scar
in his abdomen. He has few tattoos over his arms but no stigmata of CLD. There is no
organomegaly. This gentleman has a liver transplant possibly a result of viral hepatitis-
related CLD because of the presence of tattoos. The graft seems functioning well.
Examiner: Why did you say that the graft seems functioning?
Candidate: Because of the absence of signs that suggest malfunctioning graft such as:
• Presence of jaundice.
• Presence of fever.
• Presence of abdominal pain.
130 Part 4 Abdominal cases

• Development of ascites.
• Development of encephalopathy.
Examiner: Why does this patient have uncontrolled blood pressure?
Candidate: Most likely from tacrolimus.
Examiner: What are the indications of liver transplantation?
Candidate:
• Acute liver failure from conditions like hepatitis A or B, drugs, and toxins.
• End-stage CLD from any cause.
• Malignancies: Primary such as hepatocellular carcinoma and cholangiocarcinoma and
secondary from carcinoid or islet cell tumours.
• Miscellaneous: Polycystic liver disease and Budd–Chiari syndrome.
Examiner: Which indications among these are the most common?
Candidate: Hepatitis C and alcohol-induced liver diseases are the most common
indications for liver transplantation.
Examiner: What are the absolute and relative contraindications for liver transplantation?
Candidate:
Absolute contraindications:
• Active extrahepatic malignancy.
• Hepatic malignancy with macrovascular or diffuse tumour invasion.
• Uncontrolled infection.
• Active substance or alcohol abuse.
• Severe comorbid conditions.
• Noncompliance or insufficient motivation.
• Technical impediment.
• Brain death.
Relative contraindications:
• Advanced age.
• HIV infection.
• Cholangiocarcinoma.
• Portal vein thrombosis.
• Psychosocial problems.
Examiner: Why is HIV not currently considered an absolute contraindication?
Candidate: Because of the availability of effective highly active anti-retroviral
medications.
Examiner: What is the prognosis of liver transplantation?
Candidate: The prognosis is good as the 10-year survival exceeds 70%.
Examiner: Which indications for liver transplantation carry the most favourable
prognosis?
Candidate: PBC and autoimmune hepatitis.
Examiner: Which two indications carry the worst prognosis and why?
Candidate: Malignancies and hepatitis C virus due to a tendency for the primary disease
to recur in the transplanted liver.
 Liver transplant 131

Examiner: What are the complications associated with liver transplantation?

Candidate:
• Acute rejection.
• Increase the risk of infections.
• Biliary strictures and leak.
• Hepatic artery thrombosis.
• Portal vein thrombosis.
• Malignancies.
• Cardiovascular disease.
• Renal failure.
• Side effects of immunosuppressive medications.
• Recurrence of disease in the transplanted liver.
Examiner: Why is this patient jaundiced? What causes jaundice in a patient with a liver
transplant?
Candidate: Important causes of jaundice in a liver transplant patient include:
• Development of biliary stricture.
• Graft rejection.
• The portal vein or hepatic artery thrombosis.
• Recurrence of disease (HCV and neoplasms).
• Drug-induced (immunosuppressant medications).
Examiner: What are the causes of mortality in liver transplant patients?
Candidate: Early in the course after transplantation, infections are the most common
cause. Later, cardiovascular disease, renal failure, and malignancies are the most
common.
Examiner: Why are patients with a liver transplant at risk of cardiovascular disease?
Candidate: Because of the increased risk of developing metabolic syndrome, diabetes,
hypertension, and hyperlipidaemia.
Examiner: Which malignancies is a liver transplant patient at risk of?
Candidate: Most common is the skin malignancies followed by lymphoma, kidney,
and others.
Examiner: What is peculiar regarding graft rejection and the use of immunosuppressive
medications for liver transplantation compared to other solid organs?
Candidate: In some patients with a liver transplant, a tolerance of the graft to the
recipient’s immune system may develop and graft rejection may not occur even if
immunosuppressive medications are discontinued.
Examiner: How would you manage this patient?
Candidate:
• Immunosuppression.
• Care of hygiene and diet.
• Monitor regularly LFT, RFT, blood sugar, and blood pressure.
• Osteoporosis prevention and treatment.
• Treat complications.
• Vaccination.
132 Part 4 Abdominal cases

Further reading
Ahmed A, Keeffe EB. Current indications and contraindications for liver transplantation. Clin Liver Dis 2007;
11:227–247.
Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of
myeloid neoplasms and acute leukemia. Blood 2016; 127:2391–2405.
Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. Diagnosis and management of hemochromatosis: 2011
practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011; 54:328–
343.
Cervantes F, Dupriez B, Pereira A, et al. New prognostic scoring system for primary myelofibrosis based on a study
of the International Working Group for Myelofibrosis Research and Treatment. Blood 2009; 113:2895–2901.
Dhingra A, Kapoor S, Alqahtani SA. Recent advances in the treatment of hepatitis C. Discov Med 2014;
18:203–208.
European Association for the Study of the Liver. EASL clinical practice guidelines on the management of ascites,
spontaneous bacterial peritonitis, and hepatorenal syndrome in cirrhosis. J Hepatol 2010; 53:397–417.
European Association for the Study of the Liver. EASL clinical practice guidelines for HFE hemochromatosis. J
Hepatol 2010; 53:3–22.
Ferrer R. Lymphadenopathy: differential diagnosis and evaluation. Am Fam Physician 1998; 58:1313–1320.
Fitzsimons EJ, Cullis JO, Thomas DW, Tsochatzis E, Griffiths WJH. Diagnosis and therapy of genetic
hemochromatosis (review and 2017 update). Br J Haematol 2018; 181:293–303.
Foucher Y, Daguin P, Akl A, et al. A clinical scoring system highly predictive of long-term kidney graft survival.
Kidney Int 2010; 78:1288–1294.
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 Part 5
Neurology cases

How to perform a neurologic examination of the lower

(or upper) limbs?
L: Look (inspection)
F: Feel (palpation)
T: Tone
C: Clonus (if hypertonia)
P: Power
R: Reflexes
C: Coordination
S: Sensation
F: Foot walking
• Wash your hands.
• Shake hands with the patient, introduce yourself, and obtain permission for
examination.
• Position the patient flat and ask to remove the lower clothes (cover the genitalia with a
bedsheet).
• Ask the patient if he/she has any pain in the legs before touching his/her legs.
• Start by quick surveillance of the surroundings:
–– Pay particular attention to the presence of a bladder catheter (suggesting a
neurogenic bladder).
–– Nearby walking aids.
–– Ongoing intravenous (IV) solutions such as IV immunoglobulin [may suggest
Guillain–Barré syndrome (GBS) or transverse myelitis] or methylprednisolone.
–– Presence of nasogastric or tracheostomy tube (may suggest bulbar involvement).
• Inspect the lower limbs for:
–– Look for the posture (external rotation of haemiplegia).
–– Presence of foot drop.
–– Inverted champagne bottle shape of the legs (Figure 5.1).
–– Muscle wasting (Figure 5.2).
–– Fasciculations.
–– Loss of hair, diabetic foot ulcers, etc.
• Feel the lower limbs for any tenderness and tap the muscles to illicit fasciculations.
• Examine the tone by passively moving different joints.
• If you find hypertonia, do not forget to test for ankle and patellar clonus.
• Examine the power by asking the patient to raise the lower limbs straight without and
with resistance and then examine the power of each group of muscles separately.
Grade according to the ‘Medical Research Council’ grading system.
• Examine the reflexes. Make sure that you reinforce reflexes, if they are absent by
tapping them while you instruct the patient to clench his/her teeth.
134 Part 5 Neurology cases

Figure 5.1 Charcot-Marie-Tooth disease. Observe the

inverted champagne bottle shape of the left leg, foot
drop, and high arched foot.

Figure 5.2 Asymmetry of the legs and wasting of the

left leg muscles from old poliomyelitis.

• Examine the coordination (heel-shin test in lower limbs or finger nose test in upper
limbs).
• Examine the plantar reflex (Figure 5.3).
• Examine the five modalities of sensation: Touch, pinprick, vibration, position, and
temperature.
• Examine the gait: Examine also for tandem gait and check for Romberg’s sign.
• Tell the examiner, you want to complete by examining the upper limbs and the eyes
including the fundus.
 Common lower limb neurological cases 135

Figure 5.3 Typical positive Babinski sign. Observe

the extension of the big toe and fanning of the other
toes. If associated with loss of ankle or knee jerks,
differential diagnoses become limited.

Common lower limb neurological cases

Spastic paraparaesis
Spastic paraparaesis with a sensory level:
• Multiple sclerosis (MS).
• Spinal cord compression/lesion.
• Transverse myelitis.
Spastic paraparaesis with cerebellar ataxia (impaired coordination):
• Multiple sclerosis.
• Friedreich’s ataxia (both cerebellar and sensory ataxia).
Spastic paraparaesis with sensory ataxia and loss of position sense:
• Subacute combined degeneration of the cord (B12 deficiency).
• Friedreich’s ataxia.
• Tabes dorsalis.
Spastic paraparaesis with upgoing plantar response and loss of ankle or knee reflexes:
• Subacute combined degeneration of the spinal cord (B12 deficiency).
• Motor neuron disease (MND).
• Syphilis.
• Friedreich’s ataxia.
• Coexisting peripheral neuropathy (such as diabetes) and cord lesion.
Spastic paraparaesis with muscle fasciculations, wasting, and claw hands or feet:
• Motor neuron disease.
Spastic paraparaesis with mixed cerebellar and sensory ataxia with pes cavus in a young
patient:
• Friedreich’s ataxia.

Flaccid (lower motor neuron) paraparaesis

• Pure motor.
• Pure sensory.
• Sensorimotor.
136 Part 5 Neurology cases

Spastic paraparaesis
Common instruction

•• This lady has difficulty with walking. Please perform a neurological examination of
her lower limbs.

Common pitfalls
• Failure to observe the urethral catheter.
• Failure to examine the gait.
• It is always good practice to rule out cord compression.
• Candidates misdiagnose Friedreich’s ataxia as multiple sclerosis despite the presence
of pes cavus (Figure 5.4), sensory ataxia, and loss of position sense.

The typical presentation of the findings

This young lady appears comfortable. She has hypertonia with brisk reflexes in the lower
limbs. She has weakness in the lower limbs grade 4 of 5. She has impaired coordination,
upgoing plantar response and diminished fine touch and pinprick sensation up to the
level of the umbilicus. Her gait is broad-based and ataxic with negative Romberg’s sign.
She has spastic paraparaesis for which there are some causes. I would like to complete
my examination by examining the upper limbs, the spine, and perform pupil and fundus
examination.

Important clues regarding cases of spastic paraparaesis

• The three main diseases that cause absent position sense in the examination or sensory
ataxia are subacute combined degeneration of the cord, Friedreich’s ataxia, or tabes
dorsalis (tabes dorsalis is very rare nowadays).
• When you encounter a patient with upgoing plantar reflexes and absent knee or ankle
jerks, the main differential diagnoses in the examination are Friedreich’s ataxia in
younger patients and B12 deficiency or syphilis in the older patients.
• Typical findings in Friedreich’s ataxia are combined cerebellar and sensory ataxia with
positive finger nose test and positive Romberg’s sign. Besides, there is a loss of position

Figure 5.4 Pes cavus in a patient with Friedreich’s

ataxia.
 Spastic paraparaesis 137

and vibration sense. Additional features that support the diagnosis are the presence of
foot deformities such as pes cavus (Figure 5.4). These patients are typically young.
• Candidates frequently misdiagnose Friedreich’s ataxia as multiple sclerosis because
both can affect young patients, cause cerebellar signs and paraparaesis. The clue in the
presence of sensory ataxia, absent ankle or knee jerks, absent position sense, and pes
cavus in Friedreich’s ataxia.
• The hallmark of MND cases in the examination is the presence of a combination
of upper motor neuron signs such as spasticity, hyperreflexia, and upgoing plantar
response and lower motor neuron (LMN) signs in the form of wasting and atrophy
of the muscles and the presence of muscle fasciculations, claw hands, or foot drop
(Figures 5.5 and 5.6). It usually occurs in male patients between 40 and 60 years old.
(Remember MND when you see fasciculations in the examination.)

Figure 5.5 Severe muscle wasting of the hands and

legs in motor neurone disease (MND).

Figure 5.6 Claw hands in motor neurone disease

(MND).
138 Part 5 Neurology cases

• Tabes dorsalis is very rare but examiners usually include it in the discussion of a
patient with sensory ataxia. It is sometimes difficult to differentiate subacute combined
degeneration of the cord (B12 deficiency) from tabes dorsalis on a clinical basis. They
both can cause spastic paraparaesis, absent posterior column sensation, sensory
ataxia, and upgoing plantar response with absent reflexes (Figure 5.3). The main
clinical features that differentiate these two diseases are the severe episodic lancinating
pains, the presence of Argyll-Robertson pupils (ARP), or the presence of Charcot’s joint
in cases of tabes dorsalis.
Examiner: What are the causes of spastic paraparaesis?
• Spinal cord lesion (7 ‘Ts’): This should always be kept in mind as spinal cord
compression is considered a medical emergency—
–– ‘To mention multiple sclerosis (MS) first’.
–– Tumour.
–– Tuberculosis (TB).
–– Trauma: Due to accidents or from a disc or myelopathy.
–– Transverse myelitis.
–– Thrombosis (anterior spinal artery).
–– ‘Twelve’ deficiency (B12 deficiency).
• Demyelinating disease (MS) – if forgotten to be mentioned with the spinal cord lesions.
• Vitamin B12 deficiency – if forgotten to be mentioned with the spinal cord lesions.
• Syringomyelia.
• Hereditary spastic paraparaesis (Friedreich’s ataxia).
• Parasagittal meningioma.
• Motor neuron disease.
Examiner: What are the causes of upgoing plantar response and absent ankle jerks?
Candidate:
• Subacute combined degeneration of the spinal cord (B12 deficiency).
• Syphilis (tabes dorsalis).
• Friedreich’s ataxia.
• Coexisting peripheral neuropathy (such as diabetic) and cord lesion.
• Motor neuron disease.
Examiner: Which conditions give paraparaesis and sensory ataxia (absent position sense)?
Candidate:
• Tabes dorsalis.
• Subacute combined degeneration of the spinal cord.
• Friedreich’s ataxia.
Examiner: What else do you want to examine in a patient with spastic paraparaesis?
Candidate: The upper limbs and the eyes including the fundus.
Examiner: Why do you want to examine the eyes and the fundus?
Candidate: Eye and fundus examination can give important clues to the cause of spastic
paraparaesis:
• Optic neuritis in patients with multiple sclerosis may cause ‘Marcus Gunn pupil’
and swelling of the optic disc ‘papillitis’ (see the section on the eye and fundus
examination).
 Multiple sclerosis 139

• Optic atrophy: Multiple sclerosis, B12 deficiency, Friedreich’s ataxia, and neurosyphilis.
• Papilloedema: Space-occupying lesions such as parasagittal meningiomas.
• ARP: Syphilis.
Examiner: How would you manage a patient with spastic paraparaesis?
Candidate:
• Suspected cord compression: MRI spine (should be requested on an urgent basis), treat
the cause, deep vein thrombosis (DVT) prophylaxis, physiotherapy, and occupational
therapy.
• Suspected multiple sclerosis: MRI brain/spine, lumbar puncture, visual evoked
potential, IV steroids, interferon therapy, and the use of the new multiple sclerosis
drugs.
• Suspected B12 deficiency: Complete blood count (CBC), B12 level, methylmalonic
acid level, peripheral blood smear looking for hypersegmented neutrophils, IM B12
injection, anti-intrinsic factor, and antiparietal cell antibodies.
• Suspected tabes dorsalis: Cerebrospinal fluid (CSF) for venereal disease research
laboratory (VDRL).
• Suspected Friedreich’s ataxia: Cardiac monitoring, treat heart failure and arrhythmia,
manage diabetes, physiotherapy and speech therapy, family counselling, and advice to
join disease societies.
• Suspected MND: Nerve conduction study (main), nerve or muscle biopsy, care of
respiratory muscles, noninvasive ventilation, speech therapy, occupational therapy,
and use of riluzole, join MND society, discuss with the patient regarding tracheostomy,
tube feeding, and DNAR. Family counselling.

Multiple sclerosis
Common instructions

•• This young lady (or man) complains of difficulty with walking. Please perform a
neurological examination of the lower limbs.
•• This young lady complains of sudden visual abnormality in her left eye. Please
perform a neurological examination of the lower limbs.

The typical presentation of the findings

This young lady appears comfortable. She has hypertonia with brisk reflexes in the lower
limbs. She has weakness in the lower limbs grade 4 of 5. She has impaired coordination,
upgoing plantar response, and diminished fine touch and pinprick sensation up to the
level of the umbilicus. Her gait is broad-based and ataxic with negative Romberg’s sign.
She has spastic paraparaesis for which there are some causes. Due to the sudden visual
abnormality in her left eye and given the age of this patient, multiple sclerosis (MS) is on
the top of my differential list. I would like to complete my examination by examining the
upper limbs, the spine and perform a pupil and fundus examination.
Examiner: Why do you want to examine the pupils?
140 Part 5 Neurology cases

Candidate: Patients with MS may have optic neuritis which can cause ‘Marcus Gunn
pupil’. Another pupillary abnormality in patients with spastic paraparaesis is ARP, if
the cause is tabes dorsalis. Optic atrophy can be seen in MS, B12 deficiency, Friedreich’s
ataxia, and neurosyphilis. Papilloedema can be seen in the case of parasagittal cerebral
neoplasms such as parasagittal meningiomas.
Examiner: Are demyelinating plaques seen on MRI specific for MS?
Candidate: No, demyelinating and hyperintense lesions can also be seen in other
diseases such as:
• Systemic lupus erythematosus (SLE).
• Behcet’s disease.
• Syphilis.
• Sjögren's syndrome.
• Sarcoidosis.
• Acute disseminating encephalomyelitis.
Examiner: What are the types of MS?
Candidate:
• Relapsing remitting (most common form).
• Primary progressive.
• Secondary progressive.
• Progressive relapsing.
Examiner: What criteria are used for the diagnosis of MS?
Candidate: The criteria used for the diagnosis of MS are the revised McDonald criteria. It
requires a demonstration of the dissemination of the lesions in time and space based on
MRI and clinical findings.
Examiner: What are the typical areas in the central nervous system (CNS) where MS
lesions are seen?
Candidate: The typical areas are the periventricular, juxtacortical, infratentorial, and
spinal cord.
Examiner: Is CSF analysis mandatory in the diagnosis of MS?
Candidate: The diagnosis of MS depends mainly on clinical and MRI findings. However,
positive findings in the CSF of elevated IgG or 2 or more oligoclonal bands can be
important to support the presence of inflammation, to exclude other diagnoses and to
predict clinically definite MS.
Examiner: What are the ocular complications of MS?
Candidate:
• Optic neuritis and retrobulbar optic neuritis.
• Internuclear ophthalmoplaegia (INO) (Figure 5.7).
• Nystagmus.
Examiner: What is the difference between optic neuritis and retrobulbar neuritis?
Candidate: optic neuritis (or papillitis) means inflammation of the optic disc head, whereas
retrobulbar neuritis implies inflammation of the posterior portion of the optic nerve.
Examiner: How does optic neuritis manifest?
 Multiple sclerosis 141

Figure 5.7 Right internuclear ophthalmoplaegia. The

patient is attempting to look to the left side. The right
eye fails to adduct and nystagmus was observed in the
left eye.

Candidate:
• Sudden visual loss.
• Pain on moving the eyes.
• In retrobulbar neuritis, the examination of the fundus is usually unremarkable (the
patient sees nothing and the doctor sees nothing).
• Usually unilateral in adults.
• Recovery is usually spontaneous.
Examiner: What conditions, other than MS, may cause optic neuritis?
Candidate:
• Systemic lupus erythematosus.
• Syphilis.
• Sarcoidosis.
• Lyme disease.
• Vitamin B12 deficiency.
• Toxins.
• Neuromyelitis optica.
Examiner: Which differential diagnosis of MS constitutes a nightmare to neurologists, as
it may be difficult to differentiate from MS?
Candidate: Neuromyelitis optica (NMO) or Devic syndrome. This disease may present
with sudden attacks of optic neuritis and spastic paraplaegia. Sometimes, it is very
difficult to differentiate from MS. The main differentiating points are:
• NMO: usually leads to bilateral optic neuritis (MS in adults typically unilateral).
• The attacks of optic neuritis tend to be more severe and last longer.
• Spinal cord MRI shows larger lesions that extend 3 or more vertebral segments.
• Presence of anti-aquaporin-4 (AQP4) antibodies.
• Attacks of unexplained hiccups and vomiting.
Examiner: What are the poor prognostic factors in MS?
Candidate:
• Male gender.
• Late age onset.
• Frequent relapses.
• Sphincter involvement at the onset.
• Motor or brainstem involvement.
• Cerebellar involvement at the onset.
Examiner: What are the good prognostic factors in MS?
Candidate:
• Female gender.
• Age of onset before the age of 40 years.
142 Part 5 Neurology cases

• Few early relapses.

• Only sensory involvement at the start.
Examiner: Can you name new drugs approved for MS treatment?
Candidate: Interferon-β, glatiramer, dimethyl fumarate, fingolimod, natalizumab, and
alemtuzumab.

Subacute combined degeneration

of the cord (B12 deficiency)
Common instructions

•• This gentleman has a recent gastric bypass surgery. He complains of difficulty with
walking. Please perform a neurological examination of his lower limbs.
•• This lady has been treated for Grave’s disease. She complains paraesthesia in her
legs. Please perform a neurological examination of the lower limbs.

The typical presentation of the findings

Candidate 1: This gentleman has hypertonia of the lower limbs with grade 4 weakness.
He has a bilateral upgoing plantar response with a loss of ankle jerks. There is a loss
of position and vibration sensations in the lower limbs and a positive Romberg’s sign.
Since this patient had recent bariatric surgery, B12 deficiency should be the most likely
diagnostic possibility. However, another important cause of such presentation is copper
deficiency, which is an important cause of such findings in patients with post-bariatric
weakness.
Candidate 2: This pleasant lady has hypertonia of the lower limbs with weakness grade 4
of 5. She has a bilateral upgoing plantar response with a loss of ankle jerks. There is a loss
of position and vibration sensations in the lower limbs and a positive Romberg’s sign.
Given the history of Grave’s disease, B12 deficiency from pernicious anaemia should be
the most likely diagnostic possibility.
Examiner: Can you name other conditions that may give subacute combined
degeneration of the cord that mimics B12 deficiency?
Candidate:
• Copper deficiency: It can cause myelopathy that is indistinguishable from B12
deficiency. Patients may have pyramidal signs and posterior column involvement.
Copper deficiency should be included in the differential diagnosis of lower limb
weakness post-bariatric surgery.
• Vitamin E deficiency.
• Folate deficiency.
• Human immunodeficiency virus (HIV) vacuolar myelopathy.
Examiner: What are the causes of vitamin B12 deficiency?
 Tabes dorsalis 143

Candidate:
• Pernicious anaemia.
• Strict vegetarians.
• Gastric and bariatric surgery.
• Chronic atrophic gastritis.
• Helicobacter pylori infection.
• Metformin and proton pump inhibitors.
• Terminal ileum diseases: Crohn’s disease, TB, and lymphoma.
Examiner: How long do you expect for neurologic manifestations of B12 deficiency to
improve after starting parenteral vitamin B12?
Candidate: Neurologic manifestations of vitamin B12 deficiency are the last to improve
(usually take 3–6 months).
Examiner: What precautions should you take when giving large doses of vitamin B12?
Candidate: Monitor potassium levels for hypokalaemia.
Examiner: Does a normal haemoglobin level exclude B12 deficiency as a cause of this
patient’s neurologic abnormalities?
Candidate: No, neurologic manifestations of B12 deficiency can occur even in the absence
of anaemia.
Examiner: Can you name other neurological complications of B12 deficiency?
Candidate:
• Cognitive dysfunction.
• Dementia.
• Depression and mood changes.
• Optic atrophy.
• Sensory neuropathy with hand and foot numbness.
Examiner: How would you define significant hypersegmented neutrophils on peripheral
smear?
Candidate: More than 5% of neutrophils with ≥5 lobes or ≥1% of neutrophils with ≥6 lobes.

Tabes dorsalis
Common instruction

•• This gentleman complains of a sharp pain in his legs. Please perform a neurological
examination of the lower limbs.

The typical presentation of the findings

This gentleman has hypertonia and weakness in the lower limbs grade 4 of 5 with an
upgoing bilateral plantar response with loss of ankle jerks. He has absent position and
vibration sensations in the lower limbs. His gait is ataxic with a positive Romberg’s sign.
144 Part 5 Neurology cases

I could observe that he also has a swollen ankle. This gentleman has sensory ataxia
with spastic paraparaesis for which there are some causes. I would like to complete
my examination by examining the pupils, upper limbs, and perform a fundoscopic
examination.
Examiner: Which conditions give paraparaesis and sensory ataxia (absent position
sense)?
Candidate: ‘Mentioned above’
Examiner: What simple bedside signs can differentiate tabes dorsalis from subacute
combined cord degeneration due to B12 deficiency?
Candidate:
• Pupil examination for ARPs.
• Tabes dorsalis characteristically causes episodes of severe lancinating or lightning pain
in the legs.
• Presence of Charcot’s joint.
Examiner: What do you see in ARP?
Candidate: Typically, these pupils are bilaterally small (meiotic) and fail to constrict
to light but constrict to accommodation. (ARP can be read forward and backward as
‘Accommodation Reflex Present and Pupillary Reflex Absent’).
Examiner: Where is the lesion in the case of ARP?
Candidate: Dorsal to Edinger–Westphal nucleus which is a parasympathetic nucleus that
innervates the iris and the ciliary body.
Examiner: Is ARP pathognomonic for neurosyphilis?
Candidate: No, ARP can be seen in other conditions such as:
• Thiamine deficiency (Wernicke encephalopathy).
• Multiple sclerosis.
• Neurosarcoidosis.
• Brain tumours.
• Diabetes.
Examiner: How long, after exposure to treponema pallidum, does tabes dorsalis develop?
Candidate: It takes up to 20 years for tabes dorsalis to develop after exposure to
Treponema pallidum.
Examiner: Why is tabes dorsalis becoming rare nowadays?
Candidate: Tabes dorsalis became rare since the introduction of penicillin.
Examiner: How would you diagnose tabes dorsalis?
Candidate: CSF serology. CSF VDRL, if positive, is very suggestive of tabes dorsalis.
CSF FTA-ABS can be used to confirm the diagnosis. Treatment is with IV penicillin.
Alternative treatment is ceftriaxone.
 Friedreich’s ataxia 145

Friedreich’s ataxia
Common instruction

•• This 19-year-old man complains of difficulty with walking. Please perform a

neurological examination of the lower limbs.

The typical presentation of the findings

This gentleman has pes cavus deformity of the feet (Figure 5.4) and kyphoscoliosis.
He has hypertonia with weakness grade 3 of 5. He has impaired coordination, upgoing
plantar reflexes (Figure 5.3), and loss of ankle jerks. Besides poor coordination, he has
a loss of position and vibration sensations. He has an ataxic gait and positive Romberg’s
sign. In summary, this gentleman has spastic paraparaesis with loss of ankle jerks,
pes cavus, along with cerebellar and sensory ataxia. These findings are suggestive of
Friedreich’s ataxia.
Examiner: What is the mode of inheritance in Friedreich’s ataxia?
Candidate: Autosomal recessive caused by a mutation of the Frataxin gene on
chromosome 9.
Examiner: Which parts of the nervous system are commonly affected in Friedreich’s
ataxia?
Candidate: Friedreich’s ataxia causes degeneration and loss of the spinal cord and
peripheral nerve myelinated fibres. The commonly affected tracts in the spinal cord are
the posterior columns, corticospinal, and spinocerebellar tracts.
Examiner: What is the prognosis in Friedreich’s ataxia?
Candidate: Friedreich’s ataxia is a progressive disorder with an average life expectancy of
40–50 years.
Examiner: What is the most common cause of death in Friedreich’s ataxia?
Candidate: Cardiomyopathy and arrhythmias.
Examiner: What other important complications of Friedreich’s ataxia do you know?
Candidate:
• Hypertrophic cardiomyopathy.
• Optic atrophy.
• Deafness.
• Diabetes mellitus (DM).
• Scoliosis/kyphosis.
146 Part 5 Neurology cases

Motor neuron disease

Common instructions

•• This gentleman presented with difficulty in swallowing. Please perform a

neurological examination of the lower limbs.
•• This gentleman complains of inability to raise his arms. Please perform a
neurological examination of the upper limbs.

The typical presentation of the findings

This gentleman has wasting of the muscles and clawing of the feet and hands with obvious
guttering and grooving of the dorsum of the feet and hands (Figures 5.5 and 5.6). His voice
is of nasal tone (dysphonia). He has fasciculations of the limb muscles. He has weakness
grade 3 of 5 with upgoing plantar responses. He has an absent ankle jerk. His coordination
and sensations are intact. I suggest the diagnosis of MND with possible bulbar weakness.
I would like to examine his lower cranial nerves to confirm the bulbar palsy and look for
tongue atrophy and fasciculations (Figure 5.8). I would also like to assess his respiratory
muscle strength.
Examiner: What is a motor neuron? And what is its function?
Candidate: A motor neuron is a nerve cell with its body in the spinal cord and axons
attached to the skeletal muscles. Its function is to carry electrical signals to the skeletal
muscles to make them contract or relax.
Examiner: What are the types of MND?
Candidate:
• Amyotrophic lateral sclerosis: The most common type and is characterised by a
combination of upper and LMN signs. Spastic paraparaesis (or tetraparesis) with an
upgoing plantar response and hyperreflexia mixed with muscle fasciculations, wasting,
claw hands, or foot drop are typical findings. The average life expectancy is 2–5 years.

Figure 5.8 Muscle atrophy (and fasciculations) in a

patient with bulbar palsy due to motor neuron disease
(MND).
 Motor neuron disease 147

• Progressive bulbar palsy: Average life expectancy ranges from 6 months to 3 years.
• Progressive muscular atrophy: Characterised by mainly LMN type of weakness with
fasciculations and muscle atrophy. Patients may live beyond 5 years.
• Primary lateral sclerosis: Life expectancy may be normal.
Examiner: Where do you commonly see fasciculations in MND?
Candidate: Tongue (Figure 5.8) and the limb muscles particularly deltoid.
Examiner: What is the most common cause of death in MND?
Candidate: Respiratory failure from respiratory muscle weakness and bulbar palsy.
Examiner: How do you diagnose MND?
Candidate: The diagnosis of MND requires the presence of combined upper and
LMN type of weakness along with characteristic electrophysiologic features on nerve
conduction and electromyographic (EMG) studies after excluding other causes.
Examiner: What neurologic signs are not consistent with MND? (What are the five ‘No’s’
in MND?)
Candidate: The five ‘No’s’ of MND:
1. No sensory symptoms.
2. No sphincteric involvement.
3. No autonomic dysfunction.
4. No cerebellar signs.
5. No ophthalmoplaegia.
Examiner: Which disease is considered the main differential diagnosis of MND? And how
would you differentiate it from MND?
Candidate: Cervical myelopathy from cord compression by a prolapsed disc or other
causes. Cervical myelopathy may also cause upper motor neuron signs in the lower limbs
and LMN signs in the upper limbs at the level of the compression. In cervical myelopathy,
the LMN signs are seen only at the level of the compressed nerve roots while in MND,
they are seen in multiple areas of the body. Cervical myelopathy causes dermatomal
sensory loss at the level of compression. Cervical myelopathy can cause the inverted
supinator reflex sign. Cervical myelopathy can cause neck pain. The presence of tongue
fasciculations favours MND. MRI of the spinal cord is diagnostic in cervical myelopathy.
Examiner: What do you mean by inverted supinator reflex sign in cervical myelopathy?
Candidate: Inverted supinator reflex sign is seen when there is compression of the
cervical cord at C5-C6 level, which is a common site for cervical myelopathy from disc
compression. Normally when we elicit the supinator reflex, it leads to flexion at the
elbow. In an inverted supinator reflex, this does not happen but rather finger flexion
occurs. Besides, there will be hyperreflexia in the reflexes below C5-C6, which is the
triceps reflex (C7).
Examiner: Have you noticed anything while talking to the patient?
Candidate: He has dysphonia with nasal speech. This is usually a result of bulbar palsy.
Examiner: How would you manage this patient?
148 Part 5 Neurology cases

Candidate:
• Confirm the diagnosis by EMG.
• Patient counselling about the disease and the prognosis.
• Riluzole: It is the only known drug to improve survival in MND. It is a neuroprotective
drug that inhibits the release of glutamic acid and blocks glutamatergic
neurotransmission in the CNS.
• Monitor respiratory muscle function.
• Physiotherapy, occupational therapy, and palliative care medicine.
• Consider percutaneous endoscopic gastrostomy (PEG) feeding, if the patient develops
severe bulbar palsy.
• Consider discussing don't attempt resuscitation order (DNAR).

Peripheral neuropathy
Common instruction

•• This gentleman has difficulty with walking. Please perform a neurological

examination of his lower limbs.

Common pitfalls
• Misdiagnosing peripheral neuropathy and lower motor signs as spastic paraparaesis.
• Failure to spot the characteristic ‘inverted champagne bottle’ shape of the legs due to
Charcot-Marie-Tooth (CMT) (Figure 5.1).
• Failure to mention nerve conduction studies among the investigations.

The typical presentation of the findings

Candidate 1: This gentleman has an ‘inverted champagne bottle’ shape of the legs. He
has bilateral foot drop with bilateral pes cavus deformities. He has bilateral lower limb
weakness more profound distally (distally 4 of 5 and proximally 2 of 5). The ankle and knee
reflexes are absent and there is a loss of pain and touch sensations. He has a high steppage
gait. My diagnosis is a mixed sensorimotor peripheral neuropathy. In the presence of
typical inverted champagne bottle shape of the legs and pes cavus, I would suggest the
possibility of hereditary sensorimotor neuropathy (Charcot-Marie-Tooth) (Figure 5.1).
Candidate 2: This gentleman has bilateral lower limb wasting with bilateral foot drop.
The grade of power in both lower limbs is 3 of 5 proximally and distally. He has preserved
reflexes and normal sensory examination. He has bilateral high steppage gait. This
patient has a pure motor type of peripheral neuropathy. I suggest the diagnosis of chronic
inflammatory demyelinating polyneuropathy (CIDP)/Guillain–Barre syndrome or
bilateral poliomyelitis. However, there are other causes of such a type of weakness.
Candidate 3: This gentleman has a right foot drop with wasting of the muscles of the lateral
aspect of the leg. There is a weakness of the dorsiflexion and eversion of the right foot. There
is a loss of pain and touch sensations over the dorsum of the right foot. This patient has
common peroneal nerve paralysis, which can be due to nerve injury or other causes.
 Peripheral neuropathy 149

The ‘A-to-I’ causes of peripheral neuropathy:

• A: Autoimmune vasculitis.
• B: B1, B6, B12 deficiency.
• C: Cancer.
• D: Diabetes/drugs.
• E: Ethanol.
• F: Failure (renal and liver).
• G: Guillain–Barré syndrome.
• H: Hereditary sensorimotor (CMT).
• I: Injury/infections (lyme, HIV, hepatitis, and leprosy).
Examiner: What are the causes of peripheral neuropathy?
Candidate: Causes of peripheral neuropathy include:
• Diabetes mellitus (Figure 5.9) (See Section on Diabetic Neuropathy and Diabetic Foot).
• Alcoholism.
• Guillain–Barre syndrome and CIDP.
• Charcot-Marie-Tooth (hereditary sensorimotor neuropathy).
• Nerve injuries: Needle injection and trauma.
• Malignancies: Multiple myeloma and paraneoplastic.
• Infections: Lyme disease, hepatitis C, leprosy (Figure 5.10), diphtheria, and HIV.
• Vasculitis and connective tissue diseases: Lupus, rheumatoid arthritis, and polyarteritis
nodosa (Figures 5.11 and 5.12).
• Drugs: INH, vincristine, metronidazole, and nitrofurantoin.

Figure 5.9 The presence of diabetic dermopathy

may suggest diabetes as the cause of peripheral
neuropathy.

Figure 5.10 Claw hand due to peripheral neuropathy

in leprosy. Observe the multiple ulcerations of the
fingers.
150 Part 5 Neurology cases

Figure 5.11 Presence of a vasculitic rash suggests

the diagnosis of vasculitis as the cause of this patient’s
severe numbness and right foot drop.

Figure 5.12 Livedo reticularis and purpuric rash in a

patient with polyarteritis nodosa (PAN).

• Chronic liver and kidney diseases.

• Vitamin deficiency: B1, B6, B12, and E.
Examiner: Which conditions cause predominantly sensory neuropathy?
Candidate:
• Diabetes.
• Drugs: INH and metronidazole.
• Alcohol (thiamine deficiency).
• Chronic kidney disease/chronic liver disease.
• Paraneoplastic (lung/ovarian cancer).
• Malignancy: Multiple myeloma.
• Vasculitis (polyarteritis nodosa and SLE).
• Leprosy.
• HIV.
Examiner: Which conditions cause predominantly motor neuropathy?
Candidate:
• Guillain–Barre syndrome and CIDP.
• Charcot-Marie-Tooth (Figure 5.1).
• Poliomyelitis (Figure 5.2).
• Porphyria.
• Lead poisoning.
• Dapsone.
 Hereditary sensorimotor neuropathy (Charcot-Marie-Tooth) 151

Examiner: Which conditions cause sensorimotor neuropathy?

Candidate:
• Alcohol .
• Diabetes.
• Charcot-Marie-Tooth.
• Drug-related neuropathy (vincristine and nitrofurantoin).
• Vitamin B12 deficiency.
• Critical care polyneuropathy.
• Nerve injuries.
Examiner: How would you investigate this patient?
Candidate:
• Blood sugar.
• Full blood count and erythrocyte sedimentation rate (ESR).
• Liver and renal function tests.
• Vitamin B12.
• Paraprotein screen.
• Vasculitic profile.
• Nerve conduction study.
• Nerve biopsy.
• Skin biopsy.
• Corneal confocal microscopy.

Hereditary sensorimotor neuropathy

(Charcot-Marie-Tooth)
Common pitfalls
• Failure to spot the typical appearance of the legs ‘inverted champagne bottle’ (Figure 5.1).
Examiner: Which type of neuropathy does CMT cause?
Candidate: It causes both motor and sensory neuropathy (also named hereditary motor
and sensory neuropathy) but predominantly motor.
Examiner: What is the mode of inheritance in CMT?
Candidate: Mainly autosomal dominant but can be autosomal recessive or X-linked.
Examiner: What is the genetic abnormality in CMT?
Candidate: Duplication of the PMP22 gene is the main genetic abnormality.
Examiner: How many variants of CMT are there?
Candidate: There are many variants but the most important and most common are
CMT1 and 2.
Examiner: What are the most commonly involved peripheral nerves in CMT?
Candidate: Peroneal and ulnar nerves, but can involve other peripheral nerves as well.
Examiner: How would you manage this patient?
152 Part 5 Neurology cases

Candidate:
• Nerve conduction study (demyelinating in CMT1 and axonal in CMT2).
• Genetic testing and counselling.
• Daily stretching exercises and referral to orthopaedic, if pes cavus develops.
• Ascorbic acid (increase myelination).
• Avoid drugs that may worsen neuropathy (such as vincristine, dapsone, nitrofurantoin,
and metronidazole).

Guillain–Barré syndrome
Important clues to the diagnosis
• Presence of LMN weakness in the lower limbs with absent lower limb reflexes.

Common pitfalls
• Candidates find difficulty in diagnosing the Miller–Fisher variant in the examination.
• Missing tracheostomy scar or bilateral facial weakness.
Examiner: What are your findings?
Candidate: This gentleman has LMN type of weakness in the lower limbs with hypotonia,
power grade 1 of 5 and loss of knee and ankle reflexes. The sensation is intact. I can
see that the patient has a tracheostomy tube. I would suggest a diagnosis of GBS with
respiratory muscle involvement.
Examiner: What conditions might precipitate GBS?
Candidate:
• Viral infections.
• Campylobacter gastroenteritis.
• Immunisation.
• Upper respiratory tract infections.
• Mycoplasma infection.
• Surgery.
Examiner: What is the Miller–Fisher variant of GBS?
Candidate: It comprises, in addition to the lower limb weakness, a triad of:
• Ataxia.
• Areflexia.
• Ophthalmoplaegia.
Examiner: Which test is considered very specific for the Miller–Fisher variant of GBS?
Candidate: The presence of anti-GQ1b antibodies in the CSF is very specific for the Miller–
Fisher variant.
Examiner: What serious complications can this patient develop?
Candidate:
• Respiratory muscle weakness.
• Autonomic neuropathy leading to hypotension, hypertension, or arrhythmias.
• Bilateral facial nerve weakness.
Examiner: What are the poor prognostic factors in GBS?
 Examination of the peripheral nerves of the hands ... 153

Candidate:
• Age (older age groups).
• Preceding diarrhoea.
• Positive Campylobacter jejuni testing.
• Rapid disease progression.
• Severe disease indicated by the GBS disability score.
• Absence of preceding upper respiratory infection.
Examiner: How would you investigate this patient?
Candidate:
• CSF analysis: Characteristically shows high protein with normal cell count (protein-
cellular dissociation).
• Nerve conduction studies.
• Lung function testing: Forced vital capacity (FVC), maximal inspiratory pressure, and
maximal expiratory pressure.
Examiner: How would you treat this patient?
Candidate:
• Plasma exchange.
• IV immunoglobulin.
• Care of respiratory muscles.
• Monitoring of blood pressure and heart rhythm.

Examination of the peripheral

nerves of the hands (ulnar, median,
and radial nerves)
Common instruction

•• This gentleman has long-standing diabetes. Please perform a neurological

examination of the hands.
•• This patient has difficulty in swallowing. Please perform hand examination.

Common pitfalls
• Many candidates are not familiar with the complete steps of the neurological
examination of the hands.
• Candidates do not know the names of the hand muscles, their actions, and their nerve
supply.
• Candidates are not familiar with the common hand deformities produced by different
nerve lesions.
Candidate 1: This gentleman has a positive Tinel’s sign (Figure 5.13) and Phalen’s sign
(Figure 5.14). He has a wasting of the thenar eminence. These features suggest carpal
tunnel syndrome.
154 Part 5 Neurology cases

Candidate 2: This gentleman appears cachectic with marked muscle wasting. Hand
examination revealed wasting of the small muscles with bilateral claw hands (Figure 5.10)
and fasciculations. His hand sensations are preserved. Because of his dysphagia, I would
suggest the diagnosis of bilateral ulnar nerve palsy with claw hands secondary to MND
(Figure 5.5).
Important clues:
• DAB: Dorsal Interossei Abductors (they are 4 in number).
• PAD: Palmar Interossei Adductors (they are 3 in number).
• Lumbricals: Flex metacarpophalangeal joints and extend interphalangeal joints.
• All small muscles of the hand are innervated by the ulnar nerve, except the LOAF
muscles (innervated by the median nerve):
–– Lateral two lumbricals.
–– Opponens pollicis.

Figure 5.13 Tinel’s sign.

Figure 5.14 Phalen’s sign.

 Examination of the peripheral nerves of the hands ... 155

–– Abductor pollicis brevis.

–– Flexor pollicis brevis.
• Thenar eminence muscles (OAF – Opponens pollicis, Abductor pollicis brevis, and
Flexor pollicis brevis) are mainly innervated by the median nerve except the adductor
pollicis which is innervated by the ulnar. Median nerve palsy will result in wasting of
the thenar eminence (Figure 5.15).
• The radial nerve is called the nerve of extensors because it innervates the extensors of
the arms, wrists, and digits. When it is paralysed, it gives a wrist drop.
• Nerve roots for the median nerve: C6, C7, C8, and T1.
• Nerve roots for the radial nerve: C6, C7, and C8.
• Nerve roots for the ulnar nerve: C8 and T1.
How to examine peripheral hand nerves (neurological hand examination)?
• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Avoid shaking hands with the patient (it may be painful).
• Provide the patient with a pillow to rest his/her hands on for comfort.
• Enquire from the patient, if he/she has any pain before you start the examination.
• Start by inspecting the palmar and dorsal aspects of the hands for:
–– Wasting of thenar (median) or hypothenar (ulnar) eminences (Figure 5.15).
–– Wasting of the small muscles of the hands (grooving or guttering of the dorsum).
–– Presence of scars for correction of carpal tunnel or hand injuries.
–– Important deformities that provide clues about nerve injury:
■■ Presence of claw hand (hyperextension of the 4th and 5th metacarpophalangeal
joints and flexion of the interphalangeal joints) – It suggests an ulnar
neuropathy (Figures 5.6 and 5.10). This results from loss of interossei and
medial two lumbrical functions leading to unopposed action of the extensor
digitorium and clawing of the little and ring fingers. (No clawing in the index
and middle fingers because the lateral lumbricals are supplied by the median
nerve).

Figure 5.15 Ape hand deformity resulting from wasting of the thenar
eminence (this patient has also wasting of the hypothenar eminence and
mild clawing due to ulnar nerve palsy).
156 Part 5 Neurology cases

■■ Presence of ape hand appearance (median nerve injury) (Figure 5.15): This
occurs due to loss of the thenar eminence muscle. The remaining function of
the adductor pollicis supplied by the ulnar nerve keeps the thumb in one plane
with the rest of the hand and the patient will not be able to oppose the thumb
with other fingers. All these changes will make the hand mimics the ape hand.
■■ Presence of wrist drop (radial) (Figure 5.16): This occurs due to paralysis of the
extensors of the wrist and digits.
■■ Sign of benediction: This occurs only in a high median nerve injury when the
patient tries to make a fist.
• Inspection of the dorsal aspects of the hands:
–– Look for wasting and scars.
–– Rheumatoid nodules.
• Test the strength of the muscles of the hands:
–– Wrist movements:
■■ Wrist flexion (median), extension (prayer sign – radial), ulnar deviation, and
radial deviation (median and radial).
–– Interossei muscles (ulnar):
■■ Palmar: Finger adduction using a paper sheet (Figure 5.17).
■■ Dorsal: Finger abduction (Figure 5.18).
–– Lumbricals: While hands facing the ceiling, put your left hand over the thenar
and hypothenar eminences and ask the patient to flex his metacarpophalangeal
joints while keeping interphalangeal joints extended.
–– Thumb muscles:
■■ Test abduction of the thumb (abductor pollicis brevis – median) by asking the
patient to point to the ceiling with his/her thumb while the palm is facing up
(Figure 5.19). The examiner tries to apply resistance to this movement.
–– Froment’s sign (ulnar nerve) (Figure 5.20): Test for adduction of the thumb
(adductor pollicis). Ask the patient to squeeze a paper between the thumb and the
index finger. If there is a weakness in thumb adduction, the terminal phalanx of the
thumb will flex.
–– Test for the opposition of the thumb (opponens pollicis) by asking the patient to
touch his/her tip of the little finger with the tip of the thumb while the examiner
trying to break the circle.

Figure 5.16 Wrist drop deformity.

 Examination of the peripheral nerves of the hands ... 157

Figure 5.17 Figure 5.18

Testing for finger Testing for finger
adduction. abduction.

Figure 5.19 Figure 5.20

Testing for thumb Froment’s sign.
abduction.

• Test for sensations along the:

–– Distribution of the ulnar nerve (median one and half fingers).
–– Distribution of the median nerve (the palmar aspect of the lateral three and a half
fingers).
–– Distribution of the radial nerve (over the snuffbox and the dorsal aspect of the
lateral three and a half fingers).
• Testing for carpal tunnel syndrome:
–– Tinel’s sign (Figure 5.13): Testing for carpal tunnel syndrome by tapping over the
median nerve and asking the patient, if he/she feels pain/numbness along with the
distribution of the median nerve.
–– Phalen’s sign (Figure 5.14): Ask the patient to flex both wrists and push the dorsum
of the wrists against each other for 30 seconds. A positive test will show pain or
numbness along with the distribution of the median nerve.
• Test hand function:
–– Writing.
–– Do and undo buttons.
–– Hold a cup.
–– Combing the hair.
• Examine the elbows for signs of trauma, scars, or bursa.
158 Part 5 Neurology cases

Ulnar nerve palsy and the claw hand

• Wasting of the small muscles of the hand except for the thenar eminence.
• Grooving and guttering (Figure 5.6).
• Clawing of the hand (Figures 5.10 and 5.21).
• The weakness of finger adduction and abduction.
• The weakness of the medial two lumbricals.
• Froment’s sign (weakness of adductor pollicis) (Figure 5.20).
• Loss of grip strength.
• Loss of the sensations in the medial one and half fingers (Figure 5.21).

Median nerve palsy and the carpal tunnel syndrome

• Wasting of the thenar eminence.
• Ape hand appearance (Figure 5.15).
• Loss of thumb movements except for the adductor policies (ulnar). So, thumb
opposition, thumb flexion, and thumb abduction will be lost.
• Carpal tunnel syndrome may be present (Tinel’s and Phalen’s signs).
• Loss of the palmar sensation in the lateral three and a half fingers (dorsal is supplied by
the radial nerve).

Radial nerve palsy

• The radial nerve supplies the extensor muscles of the arm and forearm.
• Wrist drop due to paralysis of wrist extension (Figure 5.16).
• Fingers will be flexed.
• Paralysis of wrist supination.
• Paralysis of the extension of the fingers.
• Loss of sensations over the dorsal aspect of the lateral three and a half fingers and
snuffbox.
• Very high radial nerve injury (at axilla): Will give loss of motor and sensory function
below the axilla including loss of triceps and elbow extensor function.
• (Compression at the axilla may happen in alcoholic patients – Saturday night palsy or
crutch palsy). It leads also to the weakness of triceps and elbow extension.

Figure 5.21 Clawing of the hands and loss of

sensations in the medial side of the hand in ulnar
nerve palsy.
 Examination of the peripheral nerves of the hands ... 159

• High radial nerve palsy (lesions from the upper arm to the elbow) – may result from a
fracture of the lower end of the humerus or humeral groove. It causes loss of motor and
sensory function below the elbow.
• Low radial nerve injury (lesion below the elbow) – can occur because of forearm
fractures or entrapment around the elbow.
Examiner: What are the causes of paralysis of the hand nerves?
Candidate:
• Injury of the nerve.
• Nerve entrapment.
• Medical causes:
–– Diabetes mellitus.
–– Vasculitis: Polyarteritis nodosa – SLE .
–– Rheumatoid arthritis.
–– Amyloidosis.
–– Paraneoplastic syndromes.
–– Drugs.
–– Motor neuron disease.
–– Leprosy.
–– HIV infection.
Examiner: What are the causes of carpal tunnel syndrome?
Candidate:
• Diabetes mellitus.
• Obesity.
• Rheumatoid arthritis.
• Hypothyroidism.
• Acromegaly.
• Pregnancy.
Examiner: What is an ulnar paradox?
Candidate: Paradox means opposite to what is expected. In ulnar nerve palsy, we
expect that the more proximal the lesion (e.g. at elbow), the more is the hand clawing
(deformities). However, in ulnar palsy, when the lesion is at the wrist (distal), the flexor
digitorum will be spared and it causes complete flexion of the 4th and 5th interphalangeal
joints leading to complete clawing. If the lesion is more proximal (at the elbow), the flexor
digitorum will be paralysed and hence, the interphalangeal joints of the 4th and 5th
fingers will not be flexed leading to incomplete clawing.
Examiner: How would you manage this patient?
Candidate:
• History: Trauma, injury, chronic diseases, and medication use.
• Blood sugar level.
• Renal function and liver function.
• Autoimmune work-up for vasculitis.
• Rheumatoid factor and anti-cyclic citrullinated protein (ACCP).
• Nerve conduction study.
160 Part 5 Neurology cases

• Splints.
• Occupational therapy/physiotherapy.
• Decompression surgery.
• Surgical correction of the deformities.

A patient with unilateral wasting of the small hand muscles

• Perform a complete neurological examination of the hands as mentioned above.
• Besides, examine the lung apex for evidence of a Pancoast lesion.
• Examine the eye on the same side for evidence of Horner’s syndrome.

Causes of unilateral wasting of the small hand muscles (Figure 5.22)

Spinal cord lesion at T1 level
• Motor neuron disease.
• Cervical myelopathy.
• Syringomyelia.
Brachial plexus lesion
• Cervical rib.
• Apical lung tumour (Pancoast tumour).
Peripheral nerve involvement
• Rheumatoid arthritis.
• Charcot-Marie-Tooth.
• Ulnar nerve palsy.
• Median nerve palsy.

Figure 5.22 Unilateral wasting of small muscles of the hand (observe the
grooving and guttering of the dorsum).
 Cranial nerve palsies 161

Cranial nerve palsies

Common instruction

•• Please examine the cranial nerves of this gentleman.

Common pitfalls
• The improper technique of cranial nerve examination.
• Failure to complete the examination within the allocated time due to inadequate prior
practice.

How to perform a cranial nerve examination?

• Wash your hands.
• Introduce yourself and obtain permission for examination.
• You may ask the patient to sit on the bedside or a chair.
• Start by inspection: Look for ptosis, flattening of nasolabial folds, mouth deviation,
decreased blinking, squint, dilated pupil, skin rash (Ramsay–Hunt syndrome)
(Figures 5.23 and 5.24).
• Olfactory nerve: Ask the patient if he/she has problems with smell.

Figure 5.23 Right third nerve palsy with right partial

ptosis (observe the paralysis of right medial rectus
while the patient attempts to look to the left).

Figure 5.24 Inspection can provide important clues about the cranial nerve abnormalities. Left lower motor
neuron facial palsy (right) and complete right third nerve palsy with complete ptosis (left).
162 Part 5 Neurology cases

• Optic nerve:
–– Visual acuity.
–– Visual field.
–– Pupils (reaction to light and accommodation).
–– Fundus.
• Oculomotor, trochlear, and abducent nerves:
–– Test eye movements (Figure 5.25).
–– Test pupil size and reaction.
• Trigeminal:
–– Test sensation over the face.
–– Test muscles of mastication.
–– Corneal reflex.
• The facial nerve (Figure 5.24):
–– Ask the patient to raise the eyebrows.
–– Ask the patient to close the eyes tightly and not to let you open them.
–– Ask the patient to show the teeth.
–– Ask the patient to blow.
–– Ask the patient to whistle.
–– Ask the patient, if he/she has problems with taste.
–– Inform the examiner that you would like to examine the taste sensation and the
corneal reflex. The examination of the facial nerve is never complete without
examining the ears particularly for herpetic rash (Ramsay–Hunt). This can
distinguish competent candidates.
• Acoustic:
–– Check the hearing.
–– Inform the examiner that you normally perform Rinne’s and Weber’s tests.
(Remember: you require a 512 or 256 Hz tuning fork).
• Glossopharyngeal and vagus:
–– Perform the ‘ah test’ by asking the patient to say ‘ah’, check the soft palate on both
sides (should be at the same level) and the uvula movement and direction.
–– Check the gag reflex on each side (remember there are two gag reflexes, one on each
side). Some candidates check the gag reflexes only in the centre. This is not correct.
–– Check the voice for dysphonia.
–– Ask the patient about choking during feeding.
• Accessory nerve: Ask the patient to shrug the shoulder and rotate the head to each side
against resistance and check the muscle strength and movement.
• Hypoglossal nerve:
–– Look at the tongue for wasting and fasciculations (Figure 5.26).
–– Ask the patient to protrude the tongue, check for deviation to one side.
–– Ask the patient to push the tongue against each cheek and compare the power on
both sides.

Figure 5.25 Right abducent nerve palsy (patient

attempts to look to the right) in a patient with Tolosa–
Hunt syndrome.
 Cranial nerve palsies 163

Figure 5.26 Right hypoglossal nerve palsy (observe

atrophy of the right half of the tongue and deviation of
the tongue to the right side).

Third cranial nerve palsy

Examiner: What are the causes of third nerve palsy?
Candidate:
Medical causes:
• Ischaemia (infarction) of the nerve: DM, hypertension, and vasculitis.
• Basal meningitis: TB, sarcoidosis, and nasopharyngeal tumours.
• Cavernous sinus thrombosis.
• Multiple sclerosis.
Surgical causes:
• Posterior communicating artery aneurysm or brain tumours compressing the nerve.
• Uncal herniation.
Examiner: How would you differentiate third nerve palsy due to nerve ischaemia from
that due to compression by an aneurysm or tumour?
Candidate: In ischaemic causes, usually the peripherally located parasympathetic nerve
fibres are spared and, therefore, the pupils are spared. In compressive lesions, usually,
there is complete third nerve palsy with a dilated pupil and the condition is often painful
(Figures 5.23 and 5.24).
Examiner: What are the manifestations of cavernous sinus thrombosis and which cranial
nerves are involved?
Candidate:
• Headache.
• Periorbital oedema.
• Chemosis.
• Cranial nerves (3, 5, and 6) palsy resulting in ophthalmoplaegia and ptosis with dilated
pupil.
Examiner: How would you manage this patient?
Candidate:
• Control DM and blood pressure, if the cause is ischaemic.
• MRI/MRA brain to exclude aneurysms or compressive lesions.
• Neurosurgical referral, if the cause is a compressive lesion.
164 Part 5 Neurology cases

Sixth cranial nerve palsy

Examiner: What are the causes of sixth nerve palsy (Figure 5.25)?
Candidate:
• Ischaemia to the nerve: DM, hypertension, and vasculitis.
• Raised intracranial pressure.
• Cavernous sinus thrombosis.
• Multiple sclerosis.
• Brainstem meningitis/tumours/Tolosa–Hunt syndrome (comprising an idiopathic
granulomatous inflammation of the cavernous sinus or superior orbital fissure
leading to retro-orbital pain and paralysis of the third, fourth, or sixth cranial nerves. It
responds to steroid therapy).
Examiner: Why is the sixth cranial nerve affected in raised intracranial pressure? What
do we call this and why?
Candidate: The sixth cranial nerve has the longest intracranial course among all the
cranial nerves. When the intracranial pressure increases, the nerve gets stretched and
compressed against the petrous ligament or the ridge of the petrous temporal bone. This
is called a ‘false localising sign’. A false localising sign means that the pathology causes
dysfunction distant or remote from the expected anatomical site of the pathology and
therefore, may give a false impression as to the site of origin of the pathology (Figure 5.25).
Examiner: How would you manage this patient?
Candidate:
• Control DM and blood pressure.
• MRI/MRA brain (very useful to confirm cerebral tumours and Tolosa–Hunt syndrome).
• Treat the underlying cause.

Lower motor neuron facial palsy

Examiner: What are the causes of LMN facial palsy?
Candidate:
• Bell’s palsy (most common cause) (Figure 5.24).
• Good candidates should examine the ears of the patient for herpetic rash.
• Herpes zoster (Ramsay–Hunt syndrome).
• Parotid tumour.
• Middle ear infection.
• Lesion at the nucleus (pontine infarction/tumours).
• Diabetes mellitus.
Examiner: How would you differentiate lower from upper motor neuron facial palsy?
Candidate:
• Sparing of the upper part of the face (forehead muscles) in upper motor neuron type.
• Bell’s phenomenon in LMN type (an upward and outward movement of the eye when
the patient attempts to close the eyes) (Figure 5.27).
Examiner: What is the mechanism of Bell’s phenomenon?
 Lower motor neuron facial palsy 165

Candidate: Bell’s phenomenon is a normal protective physiologic phenomenon of the eye

that happens during eye closure. However, it becomes more obvious in the case of LMN
facial palsy due to the weakness of orbicularis oculi muscle.
Examiner: Why does an upper motor neuron facial palsy spare the forehead muscles?
Candidate: Motor fibres of the facial nerve originate from the frontal lobe. Unlike
the motor fibres that supply the muscles below the eyebrows, not all the motor fibres
supplying the forehead muscles cross the midline to reach the facial nerve nucleus in
the lower pons. Some of these fibres do not cross the midline and travel to the ipsilateral
motor nucleus. Thus, muscles of the forehead receive innervation from both sides of the
motor cortex, and sparing of forehead muscles in facial palsy indicates a central aetiology.
Examiner: Which conditions can cause bilateral seventh nerve palsy (Figure 5.27)?
Candidate:
• Guillain–Barré syndrome.
• Sarcoidosis.
• Lyme disease.
• HIV.
• Melkersson–Rosenthal syndrome (facial palsy, granulomatous cheilitis, and fissured
tongue).
Examiner: In which part of the course of the facial nerve does Bell’s palsy happen and
why?
Candidate: Bell’s palsy happens in the labyrinthine part of the facial canal. This is
because the canal is very narrow in this part and any swelling of the nerve may lead to
nerve compression.
Examiner: What is the cause of Bell’s palsy?
Candidate: Herpes simplex virus.

Figure 5.27 Left-sided Bell’s phenomenon (above) and

bilateral Bell’s phenomenon (below) (patients attempt
to close the eyes tightly).
166 Part 5 Neurology cases

Examiner: What is the prognosis of Bell’s palsy?

Candidate: Prognosis is good, if recovery begins within 3 weeks of onset.
Examiner: What are the complications of Bell’s palsy?
Candidate:
• Corneal dryness and abrasion.
• Persistent weakness.
• Synkinesis (cross-innervations upon healing) leading to lacrimation when eating
(crocodile tears), winking on smiling, etc.
• Contracture.
Examiner: How would you manage this patient?
Candidate:
• Artificial tears and ointment to avoid corneal dryness and abrasion.
• Eye cover.
• Early initiation of steroids.
• Acyclovir/valacyclovir.
• Nerve stimulation.
• Botulinum toxin injection for synkinesis.
• Surgery (rarely required).

Hypoglossal nerve palsy

Examiner: Can you name the extrinsic muscles of the tongue and their actions?
Candidate: Genioglossus – responsible for protrusion of the tongue, styloglossus muscle –
responsible for retraction and elevation of the tongue, hyoglossus muscle – responsible for
the depression of the tongue, and palatoglossus muscle – responsible for elevation of the
posterior part of the tongue and swallowing.
Examiner: Which muscle is not supplied by the hypoglossal nerve?
Candidate: The palatoglossus muscle supplied by the accessory nerve.
Examiner: Why does the tongue deviate to the paralysed side?
Candidate: In hypoglossal nerve palsy, the tongue will be deviated to the paralysed side
due to the unopposed action of the opposite genioglossus muscle (Figure 5.26).
Examiner: How would you differentiate between a LMN and upper motor neuron lesions
of the hypoglossal nerve?
Candidate: A LMN hypoglossal palsy leads to atrophy and fasciculations of the affected
side (Figure 5.26), whereas an upper motor neuron lesion leads to a spastic tongue.
Examiner: What are the causes of hypoglossal nerve palsy?
Candidate:
Lesions in the medulla:
• Medullary infarction (medial medullary syndrome).
• Haemorrhage.
• Syringobulbia.
• A medullary tumour (glioma).
 Internuclear ophthalmoplaegia 167

• Demyelination.
• Arnold–Chiari malformation.
• Bulbar palsy: Motor neuron disease (Figure 5.8).
Lesions in the base of the skull (hypoglossal canal):
• Metastatic carcinoma.
• Nasopharyngeal carcinoma.
• Meningioma.
• Basal meningitis (such as TB).
Lesions in the carotid space:
• Carotid aneurysm.
Cerebral lesions:
• Ischaemic stroke.

Internuclear ophthalmoplaegia
Common instructions

•• This lady complains of diplopia. Please examine her cranial nerves.

•• This lady complains of abnormal vision. Please examine her cranial nerves.

Common pitfalls
• Candidates misdiagnose INO (Figure 5.7) as a third cranial nerve palsy despite vertical
movements of the eyes not being affected and the absence of ptosis or pupillary
dilatation.
• Candidates remember only MS as a cause of INO and fail to suspect brainstem stroke
as the cause in older patients.

The typical presentation of the findings

This pleasant lady has a failure of adduction in the left eye associated with nystagmus in
the right eye. The convergence of the eyes is normal. INO is the most likely diagnosis. I
would like to examine her limbs and cerebellar system for evidence of multiple sclerosis.
Important clues
• The most common cause of INO in the examination is multiple sclerosis.
• The typical findings are total or partial failure to adduct one eye with nystagmus in the
abducting eye on lateral gaze (Figure 5.7). It may be unilateral and bilateral.
• It is very important to note that convergence in INO is normal and this is a
differentiating point from third nerve palsy.
Examiner: What are the causes of INO?
Candidate:
• Multiple sclerosis is the most common cause, particularly in young patients.
• Brainstem infarction (the second most common cause and probably the most common
in older patients).
• CNS tumours.
168 Part 5 Neurology cases

• CNS infections: Toxoplasmosis, encephalitis, and AIDS.

• Head injury.
• Arnold–Chiari malformation.
• Wernicke encephalopathy.
• Vasculitis (SLE).
• Miller–Fisher syndrome.
Examiner: What happens to eye convergence in INO?
Candidate: Eye convergence is preserved in INO, which signifies normal medial
rectus muscle. The convergence is mediated by a pathway that is separate from medial
longitudinal fasciculus (MLF).
Examiner: Which part of the brain is involved in INO?
Candidate: INO is caused by injury in the MLF, a tract of nerve fibres that connect the
abducens nucleus to the oculomotor nucleus and are responsible for the conjugate eye
movements.
Examiner: What makes the MLF vulnerable in MS?
Candidate: The MLF is a heavily myelinated nerve tract, which makes it more likely to be
affected by demyelinating diseases such as MS.

One and a half syndrome

Examiner: What is one and a half syndrome?
Candidate: One and a half syndrome is characterised by conjugate a horizontal gaze
palsy in one direction plus an INO in the other. It is called one and a half because it
results in complete horizontal gaze paralysis in one direction (one direction is completely
paralysed) and adduction paralysis (of one eye/half) in the opposite direction (in other
words, the only possible horizontal movement will be one eye abduction). Vertical eye
movement and convergence will be spared.
Examiner: Where is the lesion in one and a half syndrome?
Candidate: The lesion is in the paramedian pontine region and it affects the pontine
paramedian reticular formation and the MLF.
Candidate:
• Infarction in the median pontine region (the most common cause).
• Demyelination (the second most common cause).
• Brain metastasis or disseminated CNS tuberculosis.

Cerebellar syndrome
Common instruction

•• This gentleman has difficulty with his walking. Please examine his cerebellar system.
 Cerebellar syndrome 169

Common pitfalls
• Failure to perform a proper examination of the cerebellar system.
• Failure to spot and examine for characteristic speech in cerebellar syndrome (scanning
dysarthria).
• Failure to recognise titubation in the case of truncal ataxia due to lesion in the vermis.

The typical presentation of the findings

Candidate 1: This gentleman has scanning dysarthria, nystagmus, impaired finger to
nose test with past pointing, dysdiadochokinesis, and pendular knee reflex on the right
side. Heel to shin test is clumsy on the right side. His gait is broad-based ataxic gait with a
tendency to fall to the right side and tandem walking is abnormal. I suggest the diagnosis
of a right side cerebellar syndrome for which there are some causes. I would like to
complete my examination by performing a neurological examination of the upper and
lower limbs and examine his fundus.
Candidate 2: This gentleman has obvious titubation of his head. He has scanning
dysarthria. Finger-to-nose and heel-to-chin tests are normal. There is no
dysdiadochokinesis. There is a marked truncal ataxia and a broad-based ataxic gait. I
suggest the diagnosis of a cerebellar syndrome involving the vermis of the cerebellum.

How to examine the cerebellar system?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Perform quick surveillance of the surroundings and the patient. Check for walking aids,
urinary bladder catheter, and IV drug infusions such as methylprednisolone that may
suggest MS.
• It is preferred to ask the patient to sit at the bedside rather than lying on the bed.
This may be useful to unmask the presence of truncal ataxia and also allows the
examination for pendular knee jerks.
• Ask the patient about his/her name and to repeat certain phrases like ‘British
constitution’, ‘west register street’ and ‘baby hippopotamus’ to demonstrate the
presence of scanning dysarthria.
• Check for nystagmus.
• Check the finger to nose test and dysdiadochokinesis.
• Check for rebound hypotonia by asking the patient to push his/her extended arms up
against your hands. Be ready to hold the patient’s arms before reaching his/her face.
• Check for pendular knee reflexes.
• Check the heel to shin test.
• Ask the patient to walk and be ready to prevent his/her fall and check for ataxic gait.
• Check the tandem gait (Figure 5.28).
• Check for Romberg’s sign.
• Tell the examiner that you would normally examine the fundus for papilloedema or
optic atrophy.
Examiner: What are the causes of cerebellar syndrome?
Candidate:
• Cerebellar stroke (haemorrhage/ischaemia).
• Cerebellar tumour.
170 Part 5 Neurology cases

• Multiple sclerosis.
• Alcohol-induced cerebellar degeneration.
• Drugs: Phenytoin.
• Friedreich’s ataxia.
• Paraneoplastic.
• Genetic: Spinocerebellar ataxia.
Examiner: What is the importance of tandem walking in testing the cerebellar function?
Candidate: Tandem walking is a very sensitive test when the cerebellar disease is mild
and other cerebellar signs are negative particularly when the lesion is in the vermis of the
cerebellum (Figure 5.28).
Examiner: How would you differentiate a lesion in the vermis from that in the cerebellar
hemispheres?
Candidate: A lesion in the vermis of the cerebellum typically gives truncal ataxia. Head
and/or trunk titubation may be seen (titubation is a coarse tremor of the head or trunk
that is seen even when the patient is resting). Finger-to-nose and heel-to-shin test may
appear normal. The patient usually has abnormal gait particularly the tandem gait.
Examiner: What name is given to dysarthria caused by a cerebellar disease? How would
you test for it?
Candidate: In cerebellar disease, the words are usually jerky and broken into syllables.
To test for scanning dysarthria, the patient is asked to pronounce certain phrases that
have multiple syllables such as ‘British constitution’, ‘Baby hippopotamus’, ‘West Register
Street’, and ‘Walking Happily’.
Examiner: How would you differentiate nystagmus due to a cerebellar cause from that
due to a peripheral cause (inner ear)?

Figure 5.28 Tandem walking is a very sensitive test

particularly when the cerebellar disease is mild.
 Myasthaenia gravis 171

Candidate: Nystagmus from a peripheral cause is typically horizontal and unidirectional

with the fast phase being away from the affected side. Nystagmus due to a cerebellar
cause may be horizontal or vertical with the fast component towards the site of the lesion.
Examiner: How would you manage this patient?
Candidate:
• History of drugs, epilepsy, or alcohol ingestion.
• MRI of the brain and posterior fossa.
• Lumbar puncture and visual evoked potential, if MS is suspected.
• Chest X-ray, if a paraneoplastic syndrome is suspected.

Myasthaenia gravis
Common instructions

•• This lady complains of fatigue. Please examine her cranial nerves.

•• Please perform cranial nerve examination of this patient who complains of
breathlessness.

Common pitfalls
• Failure to recognise ptosis (Figure 5.29).
• Failure to consider myasthaenia when diplopia is multidirectional and cannot be
explained by specific cranial nerve palsy.
• Failure to test for fatigability (asking the patient to maintain an upward gaze to
demonstrate increasing ptosis or count continuously for voice fatigue).
• Failure to examine for proximal myopathy.

The typical presentation of the findings

This lady has ptosis, multi-directional diplopia, dysphonia/nasal speech, dysphagia,
expressionless face, and a myasthaenic sneer. Her neck muscle examination revealed
a significant weakness of the neck muscles (dropped head syndrome). She has also
proximal muscle weakness. The most likely diagnosis is myasthaenia gravis. I would like
to complete my examination by checking her respiratory muscle function and examine
the lower cranial nerves to exclude bulbar palsy (if already not examined).

How to examine a case of myasthaenia gravis?

• Wash your hands.

Figure 5.29 Bilateral ptosis in a patient with

myasthaenia gravis.
172 Part 5 Neurology cases

• Introduce yourself and request permission from the patient.

• Perform quick surveillance of the surroundings and the patient. Check for non-invasive
ventilation machines, nasogastric tubes, and IV drugs such as IV immunoglobulin and
steroids.
• Inspect the patient for ptosis and myopathic face (Figures 5.29 and 5.30).
• Ask the patient about his/her name and other questions to demonstrate dysphonia and
nasal tone of speech.
• Ask the patient to smile to demonstrate myasthaenic sneer.
• Examine the eye movement and ask the patient to inform you if they see a double
vision at any time.
• Test for fatigability by asking the patient to elevate the eyebrows and eyelids
continuously for a minute or so or count loudly up to ‘50’ (voice fatigability).
• Ask the patient to push his/her head against your hand to check for neck muscle power
while the patient in a sitting position.
• Examine the gag reflex and undertake the ‘ah test’.
• Examine the neck muscles while the patient in a lying position by checking for a head
drop when the patient elevates his/her head from the bed while in a supine position
(this is a very important sign and indicates significant weakness of muscles and a
potential for respiratory failure).
• Examine for proximal muscle weakness by asking the patient to stand from a squatting
position or abduct and adduct shoulders against resistance.
• Inform the examiner that you would normally test for respiratory muscle function.
Examiner: What do you mean by myasthaenic sneer?
Candidate: A sneer means to smile at someone but with an expression on your face that
shows a dislike. When a patient with myasthaenia attempts to smile, the angles of the
mouth fail to move and there will be a slight rise in the mid-upper lip.
Examiner: What are the types of myasthaenia gravis?
Candidate:
• Ocular: Weakness is limited to the eyelid and extra-ocular muscles.
• Generalised: Weakness involves ocular muscles, limbs, bulbar, and respiratory muscles.
Examiner: What symptoms differentiate myasthaenic weakness from other causes of
weakness and fatigue?
Candidate: Fatigability and fluctuation of weakness. Weakness and fatigue worsen in the
evening or after exercise.
Examiner: How would you differentiate the diplopia of myasthaenia from other causes of
diplopia?

Figure 5.30 Myopathic face in a patient with

myasthaenia gravis.
 Myasthaenia gravis 173

Candidate: Diplopia in myasthaenia usually cannot be explained by a particular or a

single nerve palsy and is usually multidirectional.
Examiner: How would you differentiate myasthaenia gravis from Eaton–Lambert
syndrome?
Candidate: In Eaton–Lambert syndrome:
• Symptoms are worse in the early morning.
• Leg weakness is more than arm weakness.
• There may be an associated autonomic dysfunction.
• An incremental pattern on EMG (decremental pattern in myasthaenia, particularly in
the proximal muscles).
Examiner: Botulism can be very difficult to differentiate from myasthaenia. What clinical
sign may differentiate the two?
Candidate: Botulism typically causes fixed dilated pupils due to paralysis of the muscles
of the pupils. Besides, the course is typically acute.
Examiner: How would you differentiate oculopharyngeal dystrophy from myasthaenia
on physical examination?
Candidate: Oculopharyngeal dystrophy is a genetic disease that presents in adult life with
symptoms similar to myasthenia such as dysphagia, bilateral ptosis, and proximal muscle
weakness. It is difficult to differentiate it from myasthaenia by clinical examination
alone. However, the presence of tongue wasting and weakness is characteristic of
oculopharyngeal dystrophy.
Examiner: Can you name some drugs that can cause myasthaenia?
Candidate: Penicillamine and statins.
Examiner: Can you name some drugs that may exacerbate myasthaenia?
Candidate:
• Penicillamine.
• Statins.
• Antibiotics: Aminoglycosides, fluoroquinolones, and macrolides.
• Phenytoin.
• Gabapentin.
• Chlorpromazine, magnesium, and steroids.
Examiner: What factors would make you consider endotracheal intubation in a
myasthaenic crisis?
Candidate:
• Vital capacity <20 mL/kg.
• Signs of respiratory distress.
• Inability to clear secretions.
• Inability to complete sentences because of breathing difficulty.
• Dyspnoea, particularly on lying supine.
Examiner: What is a cholinergic crisis and how do you differentiate it from a myasthaenic
crisis?
Candidate: A cholinergic crisis is due to an overdose of anti-cholinesterase drugs.
174 Part 5 Neurology cases

It is very rare in patients with myasthaenia gravis at the usual doses. It can lead to
weakness and respiratory muscle involvement that may be difficult to differentiate from
a myasthaenic crisis. However, excessive salivation, lacrimation, urination, diarrhoea,
sweating, pinpoint pupil, bradycardia, and bronchoconstriction are prominent features
in a cholinergic crisis.
Examiner: What important point should you consider during the intubation of
myasthaenic patients?
Candidate: Nondepolarising muscle relaxants such as rocuronium or vecuronium
may be preferred over succinylcholine during the intubation of myasthaenic patients.
If succinylcholine is to be used, then higher doses may be required because of a lack of
acetylcholine receptors, which may lead to prolonged paralysis.
Examiner: How would you confirm the diagnosis of myasthaenia in this patient?
Candidate:
• Bedside tests:
–– Ice pack test: Apply ice in a bag over the eyelid with ptosis for 2 minutes. The ptosis
will improve.
–– Tensilon test (edrophonium test): It is no longer used.
• Serum anticholinesterase antibodies (sensitivity >80%, specificity >90% in generalised
myasthaenia).
• Muscle-specific tyrosine kinase antibodies (MuSK antibodies): These are new antibodies
that can be seen in generalised myasthaenia and cases of negative anticholinesterase
antibodies.
• EMG: Typically shows a decremental pattern.
• CT scan of the mediastinum for thymus hyperplasia or thymoma (seen in about 70%
and 10% of patients with myasthenia, respectively).
• In all cases, serial spirometry should be performed to assess respiratory muscle
function. A FVC <20 mL/kg is an indication of myasthaenia crisis.
Examiner: How would you treat this patient?
Candidate:
• Anticholinesterase inhibitors (pyridostigmine and neostigmine) used in mild cases and
as maintenance therapy.
• Steroids and immunosuppressant drugs such as azathioprine for more difficult cases.
• Thymectomy for all patients with thymoma and patients aged 10–55 years without
thymoma but with generalised myasthaenia gravis.
Treatment of myasthaenic crisis:
• ICU admission.
• Endotracheal intubation, if necessary.
• Plasmapheresis – provides rapid elimination of the acetylcholine receptor antibodies
from the circulation
• IV immunoglobulin: Equally effective as plasmapheresis in providing rapid
improvement of the crisis.
• Steroids: Steroid effects usually take some time and may be associated with transient
worsening of weakness. Therefore, they should be administered with either
plasmapheresis or IV immunoglobulin therapy.
 Myotonic dystrophy 175

Myotonic dystrophy
Common instructions

•• This gentleman complains of fatigue and weakness. Please inspect the face and
proceed accordingly.
•• This gentleman was referred from infertility clinic. Please perform neurological
examination of the hands and proceed accordingly.

Common pitfalls
• Failure to spot the characteristic facial appearance of a patient with myotonic
dystrophica (MD) is a common pitfall.
• Failure to recognise the presence of grip myotonia after a handshake with the patient.
Clues: Suspect MD when you see a ‘monk’ in your examination or the patient does not
release your hand after a handshake.

The typical presentation of the findings

This gentleman has frontal balding and wasting of the temporalis and masseter muscles.
He has bilateral ptosis with a monk face appearance. He has handgrip myotonia and
percussion myotonia (Figure 5.31). There is evidence of bilateral lens cataract in the

Figure 5.31 Percussion myotonia.

176 Part 5 Neurology cases

eyes and an evidence of proximal muscle weakness. The diagnosis is MD. I would like to
complete my examination by examining his cardiovascular system, test for respiratory
muscle function, and ask him a few questions about dysphagia, infertility, and family
history.

How to examine a case of myotonic dystrophy?

• Wash your hands.
• Introduce yourself to the patient and request permission for examination.
• Check for the presence of a noninvasive ventilation machine beside the patient.
• When you shake hands with the patient at the start, observe that the patient does not
release your hands easily. This is called ‘grip myotonia’. This is an important clue to the
diagnosis and many candidates fail to observe it.
• Inspect the patient’s face and head. Observe the presence of:
–– Apathetic, monk-like, face.
–– Ptosis (usually bilateral).
–– Wasting of the temporalis muscle.
–– Frontal balding.
–– Look at the eyes for the presence of cataracts.
• Ask the patient to squeeze your hand with his/her hand grip and keep holding for some
time and then release it (grip myotonia).
• Illicit percussion myotonia using a tendon hammer. Percuss the thenar eminence
particularly the abductor pollicis brevis. In patients with myotonia, the thumb will
abduct, maintain abduction position for some time and then relax slowly (Figure 5.31).
• Examine for proximal muscle weakness by asking the patient to raise his arms above
the head and stand from a squatting position with the hands above the head.
• Inform the examiner that you would like to complete your examination by examining
the heart, test for respiratory muscle weakness, and ask the patient about dysphagia
and family history.
Examiner: How can you elicit percussion myotonia?
Candidate: Percussion on the thenar eminence (particularly over the abductor pollicis
brevis) with a tendon hammer results in prolonged abduction of the thumb that is
followed by a slow relaxation (Figure 5.31).
Examiner: How MD is inherited?
Candidate: MD is inherited as an autosomal dominant disease. It results from an
expansion of a repetitive trinucleotide segment in the 3′ untranslated region of the
myotonic dystrophy protein kinase (DMPK) gene.
Examiner: What are the cardinal manifestations of myotonic dystrophy?
Candidate: ‘The seven Ds’ –
1. Dominant inheritance (AD).
2. Dystrophy.
3. Disturbance of cardiac conduction and dilated cardiomyopathy.
4. Diabetes mellitus.
5. Dysphagia.
6. Decreased fertility.
7. Decreased immunoglobulin levels (hypogammaglobulinaemia).
 Facioscapulohumeral muscular dystrophy 177

Examiner: What is the most common cause of poor vision in patients with MD?
Candidate: Cataract is an important complication of MD.
Examiner: What are the two most common causes of death in patients with MD?
Candidate:
• Respiratory muscle weakness.
• Sudden cardiac death from arrhythmia.
Examiner: Which cardiac complications are MD patients at risk of?
Candidate:
• Cardiomyopathy.
• Heart block.
• Cardiac arrhythmia.
Examiner: Which other diseases, other than MD, can cause myotonia?
Candidate: Myotonia means delayed relaxation of the muscles after getting contracted.
Myotonia can be seen in:
• Myotonia dystrophica.
• Myotonia congenita.
• Potassium-aggravated myotonia.
• Acquired neuromyotonia: Characterised by exaggerated nerve impulses from the
peripheral nerves that result in continuous muscle fibre activity.
Examiner: How would you manage this patient?
Candidate:
• Electromyography.
• Serum immunoglobulin level (hypogammaglobulinaemia).
• Serum testosterone, follicle-stimulating hormone (FSH), and luteinising hormone (LH)
(primary hypogonadism).
• Genetic testing and counselling.
• Physiotherapy.
• Regular ECG, Holter monitoring, and echocardiography.
• Consider prophylactic permanent pacemaker/ICD insertion.
• Swallowing therapy.
• Regular testing and care of respiratory muscle function.

Facioscapulohumeral muscular
dystrophy
Common instructions
•• This gentleman complains of difficulty in combing his hair. Please examine his upper
limbs (or cranial nerves) and proceed accordingly.
•• This gentleman is having difficulty in opening his mouth. Please examine his face
and proceed accordingly.
178 Part 5 Neurology cases

Common pitfalls
• Muscular dystrophies such as facioscapulohumeral muscular dystrophy (FSHD) are
uncommon in clinical examinations and, hence, candidates are usually unfamiliar with
the types and examination techniques.
• Failure to spot the typical faces of patients with FSHD.
• Failure to perform relevant examination.
Clues to the diagnosis:
• In clinical examinations (as well as in real situation), there are three common causes of
a patient with facial muscle weakness – myasthaenia gravis, myotonia dystrophica, and
FSHD. The clue in differentiating FSHD from the other two diseases is the lack of ptosis
in FSHD. Diplopia and ophthalmoplaegia, which are common symptoms and signs in
myasthaenia gravis, are not seen in FSHD. Muscles of swallowing are not affected in
FSHD.
• The upper limb examination will show the typical shape of the shoulder girdle and the
winging of scapula observed in FSHD (Figures 5.32 and 5.33).

The typical presentation of the findings:

This gentleman has a myopathic face with an expressionless facial appearance,
inability to close the eyes tightly, and inability to open the mouth or whistle. There is
a pouting appearance of the lips and a transverse type of smile. There is no ptosis or
ophthalmoplaegia. Examination of the shoulders revealed wasting of the pectoralis,
trapezius, biceps and triceps muscles with winging of the scapula and a positive
overriding scapula sign (Figures 5.32 to 5.34). Beevor’s sign is also positive. The

Figure 5.32 Wasting of the pectoralis major in FSHD.

Figure 5.33 Wasting of the shoulder girdle muscles

and winging of the scapula in FSHD.
 Facioscapulohumeral muscular dystrophy 179

Figure 5.34 Winging and overriding of the scapula in

FSHD.

diagnosis is FSHD. I would like to complete my examination by examining the lower

limbs and the fundus.

How to examine a patient with FSHD?

• Wash your hands.
• Introduce yourself and request permission for examination.
• As the name suggests, FSHD typically involves the facial muscles, the muscles around
the scapula, and the upper arm muscles. It may also involve the lower limbs as well in
some cases.
• Start by careful inspection and examination of the face:
–– The patient will have what is called a myopathic face.
–– Expressionless face.
–– A pouting appearance of the lips (patients may be wrongly perceived as grumpy
and/or tired).
–– Inability to pucker the lips.
–– Inability to close the eyes tightly.
–– Inability to smile or whistle.
–– On attempting to smile, the mouth moves horizontally, producing a so-called
‘transverse smile’, this may look like a grin.
–– Impaired articulation.
–– No ptosis and no ophthalmoplaegia.
• Examine the shoulder girdle and the scapula:
–– Winging of the scapula is a very characteristic sign of FSHD and sometimes is the
main clue to the diagnosis (Figures 5.33 and 5.34).
–– ‘Overriding scapula’ sign: An upward movement of the scapula due to loss of its
inferior fixation (Figure 5.34).
–– Wasting and weakness of the pectoralis, trapezius, biceps, and triceps muscles and
muscles around the scapula (deltoid are spared).
–– Examine for Beevor’s sign: Ask the patient to lie supine and try to raise his/her
head from the bed. In normal people, there is an equal contraction of both lower
and upper abdominal muscles and, therefore, the umbilicus will remain central.
In patients with FSHD, due to the weakness of the lower abdominal muscles, there
will be upward movement of the umbilicus towards the head.
• Inform the examiner that you would like to examine for the lower limbs (they are
involved in 50% of cases and typically show a weakness of the dorsiflexion, a foot drop,
and a high steppage gait).
• Inform the examiner that you would like also to examine the fundus and hearing.
Examiner: Why would you like to examine the fundus and hearing?
180 Part 5 Neurology cases

Candidate: FSHD can be associated with hearing loss in about 75% of cases and retinal
telangiectasias in about 60%.
Examiner: What is the mode of inheritance of FSHD?
Candidate: Autosomal dominant.
Examiner: What is the importance of Beevor’s sign for FSHD diagnosis?
Candidate: Beevor’s sign was described by Charles Beevor. It is considered one of the
criteria for the diagnosis of FSHD. It can be seen in other disorders that cause weakness of
the lower abdominal muscles such as spinal cord lesions at the T10 level and below.
Examiner: How would you like to investigate this patient?
Candidate:
• Creatine phosphokinase (CPK) level is elevated.
• EMG – shows myopathic pattern.
• Genetic testing.
• Patient and family counselling.
• Muscle biopsy.
• Scapulothoracic arthrodesis.
• Referral to an ophthalmologist for retinal telangiectasia (laser photocoagulation).
Examiner: What is the typical age of onset of symptoms?
Candidate: 15–30 years.
Examiner: What do you think is the prognosis of this patient?
Candidate: The FSHD is a slowly progressive muscular dystrophy and although
life expectancy is normal in most patients, about 20% of patients may become
wheelchair-bound.

Limb-girdle muscular dystrophy

Common instructions

•• This patient has difficulty in climbing the stairs. Please examine his lower limbs.
•• This gentleman has difficulty in climbing the stairs. Please examine his gait and
proceed accordingly.

Common pitfalls
• Failure to consider limb-girdle muscular dystrophy (LGMD) in the differential
diagnosis of a waddling gait.
Clues to the diagnosis:
• Limb-girdle muscular dystrophy is a heterogeneous group of disorders with variable
severity, age of onset, and clinical features among its subtypes. However, the most
 Limb-girdle muscular dystrophy 181

common presentation is a weakness in the limb-girdle muscles (usually the pelvic

girdle) and may also involve the shoulder girdle.
• In clinical examinations, the patient often has a typical waddling (myopathic gait)
(please refer to the section on abnormal gaits in the examination).

The typical presentation of the findings

This gentleman has weakness grade 3 of 5 mainly involving the proximal muscles of the
lower limbs with normal reflexes and plantar response. He has a typical waddling gait
with an increase in lumbar lordosis. My diagnosis is a proximal muscle weakness most
likely due to LGMD. I would like to examine the upper limbs and ask about family history.

How to examine a patient with suspected LGMD?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Observe the waddling gait of the patient.
• Observe the increased lumbar lordosis.
• Perform lower limb neurological examination.
• Inform the examiner that you would like to examine the:
–– Upper limbs.
–– Cardiovascular system.
–– Respiratory system.
Examiner: What is the mode of inheritance of LGMD?
Candidate: The mode of inheritance varies according to the subtype. It can be autosomal
dominant or recessive.
Examiner: What other recognised clinical manifestations of LGMD?
Candidate:
• Calf muscles hypertrophy similar to that of Duchenne muscular dystrophy.
• Joints contractures.
• Cardiomyopathy.
• Respiratory muscle weakness.
• Involvement of the shoulder girdle leading to winging of the scapula.
Examiner: How would you manage this patient?
Candidate:
• CPK level is elevated.
• EMG – shows myopathic pattern.
• Genetic testing.
• Patient and family counselling.
• Muscle biopsy.
• Pulmonary function tests and testing for respiratory muscle strength.
• Echocardiography.
182 Part 5 Neurology cases

Parkinson’s disease
Common instructions

•• T his gentleman complains of recurrent falls. Please perform a general physical

examination and proceed accordingly.
•• This gentleman has difficulty with walking. Please examine his gait and proceed
accordingly.

Common pitfalls
• Failure to spot clinical features of Parkinson’s disease.
• Failure to observe parkinsonian gait.
• Failure to differentiate Parkinson’s disease from Parkinson-plus syndromes.

The typical presentation of the findings

This gentleman has a mask-like face with dribbling of saliva from the sides of the mouth.
His speech is monotonous. His movements appear slow and he has a pill-rolling tremor
of the right hand (Figure 5.35). Glabellar tap is positive for continuous blinking. There
is a cogwheel rigidity at the wrist joints (Figure 5.36) and a lead-pipe spasticity at elbow
joints (Figure 5.37). His gait is short shuffling with a stooped posture and lack of arm

Figure 5.35 Pill-rolling tremor of Parkinson’s disease.

Figure 5.36 Demonstrating cog-

wheel rigidity at the wrist joints.
 Parkinson’s disease 183

Figure 5.37 Demonstrating lead-

pipe spasticity at elbow joint.

Figure 5.38 Short shuffling with a stooped posture and lack of arm
swinging while walking in Parkinson’s disease.

swinging while walking (Figure 5.38). The diagnosis is Parkinson’s disease. I would
like to complete my examination by checking his handwriting and examine the eye
movement and blood pressure.

How to examine a case of Parkinson’s disease?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Quick surveillance of the surroundings for a walking aid.
• Inspect the patient for a mask-like face, presence of pill-rolling tremor(s), dribbling of
saliva, slow movement, and monotonous speech.
• Perform the glabellar tap sign and observe for continuous blinking.
• Passively move the wrist joint and elbow to check for cogwheel rigidity (exacerbated by
voluntary movement of the other arm) (Figure 5.36) and lead-pipe spasticity (ask the
patient about any pain in these joints before you do that) (Figure 5.37).
• Ask the patient to stand and walk. Observe for the following:
–– Observe the stooped posture (Figure 5.38).
–– Lack of arm swinging.
–– Short shuffling gait.
–– Festination (difficulty to initiate walking and difficulty to stop after starting).
184 Part 5 Neurology cases

• Caution: Candidates should never attempt to push patients to elicit their inability to
stop walking after a push and should be ready to support patients in case they fall.
• Inform the examiner that you would normally assess the patient’s handwriting and
examine eye movement and check for postural hypotension (to exclude Parkinson-plus
syndromes).
Examiner: What is the pathologic mechanism behind Parkinson’s disease?
Candidate: The pathological mechanism behind the development of Parkinson’s
disease is the loss of the dopamine-producing neurons in the substantia nigra and the
development of Lewy bodies in dopaminergic neurons. This, in turn, leads to a reduction
in the neurotransmitter ‘dopamine’ and an increase in ‘gamma-aminobutyric acid
(GABA)’ release in the basal ganglia which, in turn, suppresses the cortical motor system.
Examiner: What are the four main clinical features of Parkinson’s disease?
Candidate: ‘TRAP’ –
1. Tremor
2. Rigidity
3. Akinaesia
4. Postural instability
Also, a significant proportion of patients develop sensory symptoms such as allodynia,
hyperalgaesia, and pain.
Examiner: What clinical features can differentiate Parkinson’s disease from Parkinson-
plus syndromes?
Candidate:
• Parkinson’s disease tends to be asymmetric (tremor of one side of the body).
• Early falls or postural instability (Shy–Drager syndrome).
• Involvement of the autonomic nervous system causing urinary or faecal urgency,
incontinence or retention, and postural hypotension (Shy–Drager syndrome).
• Presence of tongue fasciculations (progressive supranuclear palsy).
• Presence of ophthalmopathy (progressive supranuclear palsy).
• Presence of pseudobulbar palsy (progressive supranuclear palsy).
• Dementia and hallucinations suggest Parkinson-plus syndromes.
• Presence of pyramidal signs (multiple system atrophy).
• A good response to levodopa suggests Parkinson’s disease.
Examiner: How would you differentiate Parkinson’s disease from essential tremor?
Candidate:
Essential tremor:
• Usually bilateral.
• Affects also head and neck (head and neck tremors are not seen in Parkinson’s disease).
• Increases with activities and decreases with rest.
• Absence of bradykinesia.
Examiner: What is the mechanism of cogwheel rigidity in Parkinson’s disease?
Candidate: Cogwheel rigidity is caused by the combination of tremor and hypertonia.
Examiner: Do you know of any new imaging modalities that can help in diagnosing
Parkinson’s disease?
 A patient with ptosis 185

Candidate:
• Magnetic resonance volumetry, diffusion-weighted MRI, and MR spectroscopy
• Positron emission tomography (PET) scan
• DaTscan – Ioflupane iodine-123 injection with SPECT for detecting dopamine
transporters (DaT)
Examiner: How would you treat this patient?
Candidate:
• Nonpharmacological alternative therapies: Exercise, physiotherapy, occupational
therapy, speech therapy, and nutrition
• Pharmacologic therapy:
–– Carbidopa/levodopa (Sinemet): A dopamine precursor that crosses the blood–
brain barrier and gets converted to dopamine in dopaminergic terminals by
DOPA-decarboxylase. Levodopa is peripherally converted to dopamine by a
peripheral decarboxylase enzyme before it can reach the blood–brain barrier.
Carbidopa is added as a peripheral decarboxylase inhibitor.
–– Dopamine agonists such as bromocriptine.
–– Injectable dopamine agonists such as apomorphine.
–– Monoamine oxidase-B (MAO-B) inhibitors such as selegiline.
–– Catechol-O-methyltransferase (COMT) inhibitors – increase synthesis and release
of dopamine.
–– Anticholinergics: Benztropine.
• Surgical: Deep brain stimulation (DBS) where an electrode is surgically implanted in
the subthalamic nucleus to provide continuous electrical stimulation for dopamine
Examiner: What is the ‘wearing-off phenomenon’?
Candidate: The ‘wearing-off’ phenomenon is the most common motor complication
noted during the treatment of Parkinson’s disease with levodopa. It refers to the
recurrence of tremor and rigidity before the next dose of carbidopa/levodopa is due. It
happens as a result of the short half-life of levodopa. Increasing the frequency of doses
of levodopa or the addition of a COMT or MAOI inhibitors may help in alleviating this
phenomenon.
Examiner: What is tardive dyskinesia?
Candidate: Tardive dyskinesias are repetitive involuntary movements such as facial
grimacing, tongue thrusting, or repetitive chewing that occur as a complication of long-
term levodopa use.

A patient with ptosis

Common instructions

•• This lady complains of fatigue. Please perform cranial nerve examination.

•• This gentleman complains of fatigue. Please perform eye examination and proceed
accordingly (Please refer to eye examination).
186 Part 5 Neurology cases

Common pitfalls
• Failure to spot the presence of ptosis.
• Failure to spot Horner’s syndrome (Figure 5.39).
• Failure to complete the examination and look for the aetiology of ptosis.

The typical presentation of the findings

Candidate 1: This pleasant lady has bilateral partial ptosis (Figure 5.29). Eye
examination revealed also multi-directional diplopia. I could also observe that she has
dysphonia/nasal speech, expressionless face, and myasthaenic sneer. Fatigability test
is positive with an increase in ptosis following sustained upward gaze. Her neck muscle
examination revealed a significant weakness (dropped head syndrome). She has also
proximal muscle weakness. She most likely suffers from myasthaenia gravis. I would like
to complete my examination by checking her respiratory muscle function and examine
the lower cranial nerves.
Candidate 2: This gentleman has bilateral ptosis. He has also frontal balding and wasting
of the temporalis and masseter muscles. His face is a monk-like in appearance. He has
hand grip myotonia and percussion myotonia. There is evidence of bilateral lens cataract
and evidence of proximal muscle weakness. The diagnosis is myotonia dystrophica. I
would like to complete my examination by examining his cardiovascular system, test for
respiratory muscle function, and ask him a few questions about dysphagia, infertility, and
family history.

Important causes of ptosis in clinical examinations

Bilateral ptosis in the examination
• Myasthaenia gravis (Figure 5.29).
• Guillain–Barré syndrome.
• Myotonic dystrophy.
• Facioscapulohumeral muscular dystrophy.
• Oculopharyngeal muscular dystrophy (rare in the examination).
Unilateral
• Third nerve palsy (Figures 5.23 and 5.24).
• Horner’s syndrome (Figure 5.39).
• Myasthaenia (may be unilateral).

Figure 5.39 Left Horner’s syndrome (observe the

ptosis, enophthalmos, and meiosis).
 Horner’s syndrome 187

Horner’s syndrome
Common instruction

•• This gentleman complains of cough. Please examine his eyes (or cranial nerves) and
proceed accordingly.
•• This gentleman has recurrent pain and numbness in his right arm. Please examine
his eyes (or cranial nerves) and proceed accordingly.
•• This patient complains of swallowing difficulty. Please examine his cranial nerves
(eyes).

Common pitfalls
• The most common pitfall is the failure to examine the small hand muscles (Figure 5.22)
and apex of the lungs in a patient with Horner’s syndrome to exclude Pancoast tumour
(lung apex and hand examination should be a routine in a patient with Horner’s
syndrome).
• Failure to spot the presence of Horner’s syndrome (Figure 5.39).
• Failure to spot dysphonia in patients with the lateral medullary syndrome.

The typical presentation of the findings

Candidate 1: This gentleman has a right Horner’s syndrome. His chest examination
revealed a dull percussion note over the right apex with reduced breath sounds. His
hand examination revealed a wasting of the small muscles of the right hand with loss
of sensations along with the ulnar nerve distribution. I would suggest the diagnosis of
Horner’s syndrome secondary to a right apical lung lesion compressing the brachial
plexus. The most likely cause is a Pancoast tumour.
Candidate 2: This gentleman has a nasogastric tube. He has dysphonia. Eye examination
revealed a right Horner’s syndrome. Other cranial nerve examination revealed a loss of
gag reflex on the right side. This gentleman is most likely suffering a lesion in his lateral
medulla such as lateral medullary infarction/syndrome.

How to examine a patient with Horner’s syndrome?

• Look at the patient in general for evidence of brainstem stroke such as the presence of
nasogastric feeding tube, dysphonia, weakness, etc.
• Check for ptosis, meiosis, and reaction to light and enophthalmos (Figure 5.39).
• Feel both sides of the face to check for the absence of sweating on the affected side
(anhidrosis).
• Check the pupil size and reaction to light (dilated pupil means third nerve palsy and
meiotic pupil suggests Horner’s syndrome).
• Examine the neck for scars, central lines, and masses.
• Percuss and auscultate the lung apex for evidence of apical lung lesions.
• Inspect the hand for wasting of the small muscles and examine the hand sensations
(Figure 5.22).
188 Part 5 Neurology cases

Examiner: What are the causes of Horner’s syndrome?

Candidate:
• Cervical rib.
• Pancoast tumour of the lung.
• Lateral medullary syndrome (brainstem stroke).
• Neck tumours.
• Trauma, e.g. central line or chest tube insertion.
Examiner: How would you investigate this patient?
Candidate:
• Chest X-ray.
• CT scan chest and neck.
• MRI brain, if suspected brainstem lesion.

A patient with abnormal gait

Common instructions

•• This gentleman complains of difficulty in walking. Please examine his gait and
proceed accordingly.
•• This gentleman complains of recurrent falls. Please examine his gait and proceed
accordingly.

Common pitfalls
• Failure to recognise the type of abnormal gait.
• Failure to perform other relevant examinations related to the gait.

How to perform gait examination?

• Wash your hands.
• Introduce yourself and obtain permission for examination.
• Ask the patient to walk and take the necessary precautions to prevent falls.
• Observe the type of gait.
• Examine for tandem gait by asking the patient to walk in a straight line.
• Ask the patient to walk on his/her toes (test for plantar flexion weakness).
• Ask the patient to walk on his/her heels (test for foot dorsiflexion weakness – will be
abnormal in foot drop).
• Check for Romberg’s sign.
• Proceed to perform other relevant examinations based on your findings:
–– If the gait is a parkinsonian one, check for other signs of Parkinson’s disease.
–– If the gait is of a spastic paraparaesis, high steppage (peripheral neuropathy), or
sensory ataxia, perform a neurological examination of the lower limbs.
–– If the gait is ataxic, perform a cerebellar examination and Romberg’s sign.
 A patient with abnormal gait 189

Common gait abnormalities in clinical examinations

Parkinsonian gait:
Cause: Parkinson’s disease
Characteristics of the gait:
• Short shuffling gait.
• Loss of arm swinging during walking.
• Stooped posture (Figure 5.38).
• Reduced ability to turn (turning in blocks) and sometimes freezing of turns.
• Bradykinesia.
• Difficulty to initiate walking and difficulty to stop after starting (this is called
festination, which is the involuntary quickening of gait).
• Caution: Candidates should never attempt to push patients to elicit their inability to
stop walking after a push and should be ready to support patients in case they fall.
Spastic paraparaesis gait (scissoring gait):
Causes: Causes of spastic paraparaesis (see the section on spastic paraparaesis).
Characteristics of the gait:
• Flexion of the hips and knees.
• Internally rotated ankles.
• Adduction of the knees.
• Scissoring of the legs when walking.
Ataxic gait (cerebellar ataxia):
Causes: See the causes of cerebellar syndromes.
Characteristics:
• Broad-based/wide-based gait.
• Swinging (towards the affected side, if one haemisphere is involved).
• It is important to check for tandem gait to unmask the ataxia particularly if mild.
Tandem gait is examined by asking the patient to walk in a straight line with toes of the
back foot touch the heel of the front foot at each step – heel to toe walk).
Note: When the lesion is in the vermis, patients may have the truncal type of ataxia and
titubation. Titubation is a coarse tremor of the head or trunk that is seen even when the
patient is resting.
Stomping gait (sensory ataxic gait):
Causes: Causes of sensory ataxia (diseases that cause loss of position sense such as B12
deficiency, tabes dorsalis, severe diabetic neuropathy, and Friedreich’s ataxia).
• This occurs due to the loss of proprioception/joint position.
• It becomes more prominent in dark or when the patient closes his/her eyes. This is
because open eyes will make the patient aware of his position.
• Associated with a positive Romberg’s sign.
• Due to loss of position sense and to know the location of the step, patients often lift
their legs very high to hit the ground hard (stomping).
High steppage gait (peripheral neuropathic gait/equine gait):
Causes: Diseases that cause motor neuropathy and foot drop (see the causes of
neuropathy).
Characteristics:
• Presence of foot drop.
190 Part 5 Neurology cases

• To prevent the dropped foot from dragging on the ground, patients tend to lift their
affected legs high up and flex the knee when walking.
• Remember: The muscle paralysis that is responsible for foot drop is the tibialis anterior
supplied by the common peroneal nerve (this muscle is responsible for the normal
dorsiflexion of the foot).
Waddling gait (myopathic gait/Trendelenburg’s gait/duck walk):
Causes: Diseases that cause weakness of the muscles in the pelvic girdle.
• Muscular dystrophies and myopathies.
• Severe osteomalacia.
• Pregnancy.
Characteristics:
• The weakness of the pelvic girdle muscles on one side will cause the pelvis on the other
side to drop during walking (Trendelenburg’s sign).
• Patients will do a compensatory bending of the trunk to the opposite side of the
dropped pelvis.
• When the weakness is bilateral, a waddling gait is seen.
• There is an increase in lumbar lordosis.
Haemiplegic gait:
Causes: Causes of haemiplegia such as stroke and cerebral tumours.
Characteristics:
• Flexed, adducted, and internally rotated arm.
• Flexed wrist.
• Extended lower limb.
• Circumduction during walking.

A patient with abnormal speech

Common instructions

•• This lady has a problem with her speech. Please examine her speech and proceed
accordingly.
•• Please speak to this gentleman and proceed accordingly.

Common pitfalls
• Failure to observe the nasal tone and dysphonia from bulbar palsy.
• Failure to observe the scanning dysarthria of cerebellar syndromes.
• Failure to proceed to the relevant examination such as the cerebellar system in case of
scanning dysarthria or lower cranial nerves in case of dysphonia.

How to examine the speech?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Ask the patient at first about his/her name.
 A patient with abnormal speech 191

• Observe the fluency, the comprehension, the pattern, and the tone of the speech.
• Comprehension is checked by giving simple orders (such as raise your arm or touch
your ear), followed by complex orders (such as touch your left ear with the right hand).
• If you find that the patient has dysphasia:
–– Ask him/her to name common objects such as a pen or a cup to check for nominal
dysphasia.
–– Observe if the patient keeps repeating the words you say (echolalia).
–– Ask the patient to read (dyslexia may accompany dysphasia) – left parieto-occipital
lesion.
–– Ask the patient to write (dysgraphia).
–– Ask the patient to do simple calculations (acalculia) – posterior parietal lesion.
• If there is scanning dysarthria, proceed as mentioned in scanning dysarthria below and
perform the cerebellar system examination.
• If the case is Parkinson’s disease, proceed to the proper examination of suspected
Parkinson’s disease.
Common speech abnormalities in clinical examinations
• Dysphasia.
• Dysarthria.
• Scanning dysarthria of cerebellar syndromes.
• Dysphonia and nasal speech.
• Parkinson’s disease.
Dysphasia and dysarthria:
• Dysphasia is a disturbance in the ability to communicate information.
• There are two types of dysphasia:
1. Expressive/motor/Broca’s dysphasia.
2. Receptive/sensory/Wernicke’s dysphasia.
• Expressive dysphasia or motor aphasia: It happens when there is a problem with
the fluency of speech (the output of spontaneous speech is markedly diminished).
Comprehension is usually intact in pure motor dysphasia. The lesion in expressive
dysphasia involves the dominant (left) inferior frontal lobe or Broca’s area.
• The most common cause of Broca’s aphasia is a stroke in the middle cerebral artery or
internal carotid artery. Other causes include traumatic brain injury, tumours, and brain
infections.
• Receptive dysphasia: It happens when there is impaired language comprehension with
normal fluency of speech. The lesion is located in the superior temporal lobe in the
dominant cerebral haemisphere.
• Dysarthria: It is a defective articulation resulting from a motor dysfunction. It leads to
a slurred speech with intact fluency and comprehension. It can be caused by weakness
in the facial muscles, tongue muscles or palate.
Scanning dysarthria:
• Speech is scanning and the syllables are pronounced individually.
• It can be demonstrated by asking the patient to pronounce particular phrases such as
‘British constitution’, ‘west register street’, and ‘baby hippopotamus’.
• Causes are the same as the causes of cerebellar syndromes (see cerebellar syndromes).
Dysphonia/nasal speech:
• In clinical examinations, dysphonia is probably the most difficult speech abnormality
to be observed by candidates.
192 Part 5 Neurology cases

• Dysphonia is usually a part of bulbar palsy in clinical examinations. It is commonly

seen during clinical examinations in patients with MND. The instruction may be to
examine the upper or lower limbs.
• The causes of bulbar palsy include:
–– Brainstem infarction/stroke.
–– Motor neuron disease.
–– Guillain–Barré syndrome.
–– Myasthaenia gravis.
–– Multiple sclerosis.
–– Diphtheria.
–– Poliomyelitis.
–– Syphilis.
• Clinical features of bulbar palsy include (Figure 5.8): (LMN paralysis of cranial nerves
IX, X, XI, and XII)—
–– Dysphonia.
–– Dysarthria.
–– Dysphagia.
–– Drooling of saliva.
–– Paralysed tongue with wasting and atrophy.
–– Fasciculations in the tongue.
–– The gag reflex is absent.

How pseudobulbar palsy is different from bulbar palsy?

• In pseudobulbar palsy:
–– The lesion is an upper motor neuron type affecting the corticobulbar tracts (most
commonly caused by bilateral strokes. Other causes include MND/supranuclear
palsy and malignancy).
–– The tongue is spastic and pointed.
–– Associated with exaggerated jaw jerk.
–– Associated with emotional liability.
–– The gag reflex is normal or exaggerated.

A patient with a movement disorder

Common instructions

•• Have a look at this patient. What do you think is the diagnosis?

•• This patient has difficulty in walking. Have a look at him and proceed accordingly.
•• This gentleman was referred by his psychiatrist for neurological evaluation. Please
perform a general examination and suggest two causes of his problem.

Common pitfalls
• Inability to diagnose the movement disorder.
 A patient with a movement disorder 193

Important movement disorders in clinical examinations

• Tremor: Rhythmic oscillations caused by intermittent muscle contractions.
• Tics: Paroxysmal, stereotyped muscle contractions. They might be simple (single
muscle group) or complex. Temporarily suppressible.
• Myoclonus: Shock-like, rhythmic twitches. Not suppressible.
• Chorea: Dance-like, unpatterned movements, approximate a purpose (e.g. adjusting
clothes, checking a watch). Often rapid and may involve proximal or distal muscle
groups.
• Athetosis: Writhing movements, mostly of arms and hands. Often slow.
• Dystonia: Sustained or repetitive muscular contractions, with abnormal posture.
• Haemiballismus: Wild, large-amplitude, flinging movements on one side of the body,
commonly affecting proximal limb muscles but can also affect the trunk.
• Tardive dyskinesia: It is a form of repetitive, involuntary movements. The most common
causes are drugs such as antipsychotic medications, levodopa, and metoclopramide.
Examples of such repetitive involuntary movements include grimacing of the face,
lingual dyskinesia (repeated tongue movement), lip-smacking, puckering or pouting,
or excessive eye blinking.
Examiner: What are the causes of chorea?
Candidate: Mnemonic ‘ST. VITUS’S DANCE’ –
• Sydenham’s chorea (rheumatic fever).
• Tumours (paraneoplastic).
• Vascular.
• Increased RBCs (polycythaemia).
• Toxins (carbon monoxide/mercury).
• Uraemia.
• SLE.
• Senile chorea.
• Drugs (oral contraceptive pills–levodopa–antipsychotic medications).
• Antiphospholipid antibody syndrome.
• Neurodegenerative conditions (Huntington’s chorea – Wilson’s disease).
• Conception related (pregnancy – oral contraceptive pills).
• Endocrine (thyrotoxicosis).
Examiner: What is the cause of hemiballismus?
Candidate: Hemiballismus is caused by a lesion in the subthalamic nucleus of the basal
ganglia such as stroke, tumour, demyelinating lesion, etc.

Huntington’s disease/chorea
Examiner: What is the mode of inheritance in Huntington’s disease (HD)?
Candidate: The HD is the most common cause of chorea and it is an autosomal dominant
disorder caused by a cytosine–adenine–guanine trinucleotide repeat expansion in the
huntingtin gene on chromosome 4p.
Examiner: What is the typical age of onset in HD?
Candidate: Typical age of onset – 40 years of age.
194 Part 5 Neurology cases

Examiner: What are the cardinal features of HD?

Candidate: ‘5 Cs’ of HD –
• Chorea – is a key feature of HD.
• Cognitive changes – worsening of cognitive and memory function leading to dementia.
• Complex psychiatric disorders – irritability, depression, increased risk of suicide,
abnormal sexual behaviour, and aggression. Together with cognitive impairment may
lead to disrupted social relationships.
• Conjugate gaze abnormalities – reduced saccade eye velocity between 2 points of
fixation.
• Cachexia.
Examiner: How would you manage this patient?
Candidate:
• There is no cure for HD.
• The patient should be counselled about the disease.
• Family counselling, education, and genetic testing.
• Symptomatic management of chorea and psychiatric changes (Tetrabenazine is one of
the first-line treatments for this symptom).
• Referral to the palliative care team.
• Discuss DNAR with the patient.
• Advice to avoid driving.
• Most people die 10–30 years after the appearance of symptoms.

Further reading
Acharya AB, Wroten M. In: Stat Pearls [Internet]. Treasure Island (FL): Stat Pearls Publishing; 2020.
Bachoud-Lévi AC, Ferreira J, Massart R, et al. International guidelines for the treatment of Huntington’s disease.
Front Neurol 2019; 10:710.
Bergamaschi R. Prognosis of multiple sclerosis: clinical factors predicting the late evolution for an early
treatment decision. Expert Rev Neurother 2006; 6:357–364.
Bhidayasiri R, Truong DD. Chorea and related disorders. Postgrad Med J 2004; 80:527–534.
Brooks BR, Miller RG, Swash M, Munsat TL; World Federation of Neurology Research Group on motor neuron
diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph
Lateral Scler Other Motor Neuron Disord 2000; 1:293–299.
Costa J, Swash M, de Carvalho M. Awaji criteria for the diagnosis of amyotrophic lateral sclerosis: A systematic
review. Arch Neurol 2012; 69:1410–1416.
Damasceno A, Von Glehn F, Brandão CO, Damasceno BP, Cendes F. Prognostic indicators for long-term disability
in multiple sclerosis patients. J Neurol Sci 2013; 324:29–33.
Groh WJ, Groh MR, Saha C, et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy
type 1. N Engl J Med 2008; 358:2688–2697.
Jankovic J. Parkinson’s disease: clinical features and diagnosis. J Neurol Neurosurg Psychiatry 2008; 79:368–376.
Kaeser HE. Drug-induced myasthenic syndromes. Acta Neurol Scand Suppl 1984;100:39-47.
Keane JR. Internuclear ophthalmoplegia: unusual Causes in 114 of 410 patients. Arch Neurol 2005; 62:714–717.
Mehta S. Neuromuscular disease causing acute respiratory failure. Respir Care 2006; 51:1016–1021.
Menon V, Saxena R, Misra R, Phuljhele S. Management of optic neuritis. Indian J Ophthalmol 2011; 59:117–122.
Mul K, Lassche S, Voermans NC, et al. What’s in a name? The clinical features of facioscapulohumeral muscular
dystrophy. Pract Neurol 2016; 16:201–207.
Orrell RW, Jurkat-Rott K, Lehmann-Horn F, Lane R. Familial cramp due to potassium-aggravated myotonia. J
Neurol Neurosurg Psychiatry 1998; 65:569–572.
Polman CH, Reingold SC, Banwell B, et al. Diagnostic criteria for multiple sclerosis: 2010 Revisions to the
McDonald criteria. Ann Neurol 2011; 69:292–302.
 Further reading 195

Prasad S, Galetta S. Eye movement abnormalities in multiple sclerosis. Neurol Clin 2010; 28:641–655.
Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, et al. Diagnosis and treatment of Friedreich ataxia: a
European perspective. Nat Rev Neurol 2009; 5:222–234.
Statland JM, Tawil R. Facioscapulohumeral Muscular Dystrophy. Continuum (Minneap Minn) 2016; 22:1916–1931.
Swanton J, Fernando K, Miller D. Early prognosis of multiple sclerosis. Handb Clin Neurol 2014; 122:371–391.
Walgaard C, Lingsma HF, Ruts L, et al. Early recognition of poor prognosis in Guillain-Barre syndrome.
Neurology 2011; 76:968–975.
Wingerchuk DM, Banwell B, Bennett JL, et al. International consensus diagnostic criteria for neuromyelitisoptica
spectrum disorders. Neurology 2015; 85:177–189.
 Part 6
Endocrine, rheumatology,
connective tissue, and
skin cases

Grave’s disease and goitres

Common instructions

•• This lady complains of weight loss. Please perform a general physical examination
and proceed accordingly.
•• Please assess the thyroid status of this lady.

Common pitfalls
• Failure to recognise the presence of atrial fibrillation.
• Failure to perform a proper assessment of the thyroid status.

The typical presentation of the findings

Candidate 1: This pleasant lady appears of average built. She has diffuse nontender goitre
that moves with swallowing. There is no bruit over the neck and no retrosternal extension.
She has mild exophthalmos but no lid lag, retraction, or ophthalmoplaegia. Her pulse rate
is 70 beats per minute and regular. There is no hand tremor. There are no signs of proximal
myopathy, thyroid acropachy, or pretibial myxoedema. This lady has a diffuse goitre with
mild exophthalmos. She is clinically euthyroid. The most likely cause is treated Grave’s
disease. Other possibilities include non-toxic diffuse or multi-nodular goitre.
Candidate 2: This pleasant lady appears thin and anxious. She has a staring look,
exophthalmos, lid retraction, lid lag, chemosis, ophthalmoplaegia, warm sweaty
hands, and tachycardia. She has a diffuse goitre with a bruit. She has also evidence of
proximal muscle weakness. There is no ophthalmoplaegia, pretibial myxoedema, or
nail onycholysis. This lady is clinically hyperthyroid and the most likely cause is Grave’s
disease.

How to examine a patient with Grave’s disease?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
198 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

• It is more convenient, if the patient sits on the side of the bed or a chair. A goitre may
not be obvious when the patient lies flat or semi-sitting in the bed with the head
relaxed on a pillow.
• Begin by general inspection of the patient. The patient may appear anxious with a
staring look and may be thin. Observe for the presence of exophthalmos, lid retraction,
or goitre (Figure 6.1).
• Hold the hand of the patient and examine for the following:
–– The pulse: Examine for the rate and the rhythm and check for the presence of a
collapsing pulse.
–– Look for palmar erythema and feel the palm for sweating and warmth.
–– Ask the patient to extend his/her hands and spread the fingers to look for fine
tremors.
–– Examine the fingers for clubbing and nail onycholysis.
• Examine the eyes for the presence of:
–– Redness.
–– Chemosis.
–– Lid retraction.
–– Lid lag.
–– Exophthalmos.
–– Ophthalmoplaegia.
• Follow the standard four steps for thyroid gland examination:
1. Inspection:
■■ Look for swelling of the gland (Figure 6.2).
■■ Ask the patient to swallow and see the movement of the gland.
■■ Ask the patient to protrude his/her tongue ‘for the exclusion of thyroglossal cyst’.

Figure 6.1 Bilateral exophthalmos

in Grave’s disease. Observe the
sclera between the lower eyelid
and the cornea.

Figure 6.2 Diffuse goitre in Grave’s disease.

 Grave’s disease and goitres 199

2. Palpation:
■■ Feel the thyroid gland anteriorly and posteriorly for surface, nodularity, and
temperature.
■■ Feel for adjacent lymph node enlargement.
■■ Feel for tracheal deviation.
■■ Ask the patient to swallow some water and feel for movement with swallowing.
3. Percussion:
■■ Percuss below the gland for the retrosternal extension of the goitre.
4. Auscultation:
■■ Listen over the thyroid gland for a bruit.
• Examine the legs for pretibial myxoedema (Figure 6.3).
• Examine for proximal muscle weakness for proximal myopathy.
• Inform the examiner that you would like to ask the patient about appetite, weight loss,
and heat intolerance.
Examiner: What do you think is the cause of this patient’s hyperthyroidism?
Candidate: The cause in this patient is most likely Grave’s disease. Features that
differentiate Grave’s disease from other causes of hyperthyroidism such as toxic multi-
nodular goitre are:
• Presence of eye signs (Grave’s ophthalmopathy).
• Presence of dermopathy (pretibial myxoedema and nail onycholysis).
• Diffuse goitre.
In general, the presence of these three features along with signs and symptoms of
hyperthyroidism can establish the diagnosis of Grave’s disease.
Other features that can help in differentiation:
• Assays for thyrotropin-receptor antibodies ‘TRS-Ab’ (particularly thyroid-stimulating
immunoglobulin ‘TSIs’) are confirmatory for Grave’s disease. Detection of TSIs is
diagnostic for Grave’s disease.
• Diffuse uptake of iodine on radioactive iodine uptake scanning.

Figure 6.3 Pretibial myxoedema is suggestive of

Grave’s disease as the cause of thyrotoxicosis.
200 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Examiner: What clinical features suggest that a patient is hyperthyroid? What features
suggest a hyperthyroid status?
Candidate:
• Tachycardia or atrial fibrillation.
• Warm and moist skin.
• Presence of lid lag.
• Stare.
• Hand tremor.
• Proximal muscle weakness.
• Weight loss despite an increased appetite.
• Thyroid bruit.
• Brisk reflexes.
(Note: Lid retraction is not a good sign to indicate hyperthyroid status.)
Examiner: What other causes of hyperthyroidism do you know?
Candidate:
• Grave’s disease (most common 60–90% of all causes of hyperthyroidism).
• Toxic multinodular goitre.
• Toxic adenoma.
• Subacute thyroiditis.
• Drug induced – amiodarone.
• Factitious thyrotoxicosis (deliberate ingestion of thyroxine hormone for nonmedical
reasons).
Examiner: How would you manage this patient?
Candidate:
Investigations:
• Thyroid function test (TFT).
• Complete blood count (CBC) and liver function test (LFT) as a baseline before starting
antithyroid drugs.
• Radioactive iodine uptake thyroid scan.
• Thyrotropin-receptor antibodies.
Treatment:
1. Radioiodine ablation: It is the most commonly used therapy.
Indications:
It is the preferred treatment in the following situations:
• Severe forms of hyperthyroidism: A large thyroid gland, multiple symptoms of
thyrotoxicosis, high levels of thyroxine, and high titres of TSI.
• Younger patients, due to the high relapse rate (>50%) associated with antithyroid
therapy.
Pre-treatment with antithyroid drugs:
Patients who cannot tolerate hyperthyroidism such as the elderly or patients with heart
diseases must be pre-medicated with antithyroid drugs to make them euthyroid, as
radioactive iodine therapy may result in a transient exacerbation of hyperthyroidism.
However, antithyroid drugs should be discontinued a few days before radioiodine
treatment, as pre-treatment with thioamides reduces the cure rate of radioiodine therapy
in hyperthyroid diseases.
 Grave’s disease and goitres 201

Contraindications:
Pregnancy and severe ophthalmopathy (may worsen Grave’s ophthalmopathy).
2. Antithyroid drugs: Usually indicated in mild thyrotoxicosis or patients who cannot take
radioiodine therapy. Methimazole is preferred because of its long duration of action
(given once daily) and rapid onset of action. Propylthiouracil is preferred in the first
trimester of pregnancy because of the potential teratogenic effect of methimazole.
TFT should be assessed 6 weeks after starting the treatment. TFT monitoring should
be mainly by T3 and T4 values, as thyroid stimulating hormone (TSH) may remain
suppressed for several months despite the normalisation of T3 and T4 levels. The
duration of therapy varies but usually 1–2 years.
3. Surgery: It is not popular therapy nowadays. It is indicated mainly for obstructive goitre
or patients who cannot tolerate other therapies.
Examiner: How would you minimise the risk of worsening of ophthalmopathy from
radioactive iodine?
Candidate: This can be achieved by the administration of steroids before and during
radioactive iodine.
Examiner: What advice would you give to this patient, if she receives radioactive iodine
therapy?
Candidate:
• Patients who receive radioactive iodine therapy can expose household contacts via
saliva, urine, body fluids, or emission from their bodies. Pregnant women, children,
and sexual contacts are vulnerable. They should avoid sharing cups, sleeping in the
same bed, close and sexual contacts for up to 1 month.
• Pregnancy should be postponed for up to 6 months post-treatment.
• Monitor thyroid function for hypothyroidism.
• Monitor for worsening of ophthalmopathy.
Examiner: What causes pretibial myxoedema in Grave’s disease? Is it specific for Grave’s
disease?
Candidate: Pretibial myxoedema (Figure 6.3) results from the accumulation of
glycosaminoglycans (hyaluronic acid) in the dermis. It is not specific for Grave’s disease,
as it may be rarely seen in normal patients and patients with autoimmune thyroiditis.
Treatment includes control of thyroid function, local steroid use, and pentoxifylline in
resistant cases.
Examiner: How would you assess proptosis in thyroid ophthalmopathy?
Candidate: By using an exophthalmometer, one measures the distance from the lateral
angle of the orbit to an imaginary line drawn from the most anterior part of the cornea.
The normal limit is usually up to 20 mm.
Examiner: How would you treat thyroid ophthalmopathy in this patient?
Candidate:
• Avoid smoking: Smoking is a proven risk factor for worsening ophthalmopathy in
Grave’s disease.
• Control hyperthyroidism.
• Artificial tears.
• Oral steroid therapy.
202 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

• Orbital irradiation.
• Decompressive orbital surgery.
• Teprotumumab: It is an insulin-like growth factor 1 (IGF-1) receptor inhibitor that has
recently been approved for the treatment of Graves’s ophthalmopathy. It reduces the
clinical activity score and degree of proptosis.
• Rituximab.
Examiner: What clinical features suggest a thyroid nodule is malignant?
Candidate:
• Male gender.
• Family history of thyroid cancer.
• History of head and neck irradiation.
• Presence of enlarged cervical lymph nodes.
• Compression symptoms such as hoarseness, dysphagia, dyspnoea, cough, or
dysphonia.
• The presence of microcalcifications on ultrasound (common in papillary carcinoma).

Acromegaly
Common instructions

•• This gentleman complains of nocturnal breathlessness. Please perform a general

physical examination and proceed accordingly.
•• This gentleman complains of pain in his hands. Please examine the hands and
proceed accordingly.
•• This gentleman complains of blurring of vision. Please perform a general physical
examination and proceed accordingly.

Common pitfalls
• Visual filed examination and checking for carpal tunnel syndrome are probably the
most commonly forgotten aspects of examination of patients with acromegaly.
• Failure to recognise acromegalic features.

The typical presentation of the findings

This gentleman has features suggestive of acromegaly. He appears tall with coarse facial
features. There is frontal bossing. The teeth are wide-spaced with obvious prognathism
(Figure 6.4). His lips and nose are large. I could also see cutis verticis gyrata (furrows
resembling gyri of the scalp) (Figure 6.5). Hand examination revealed spade-shaped
hands with doughy-feeling and tight rings (Figure 6.6). There is evidence of carpal tunnel
syndrome with positive Tinel’s and Phalen’s signs. Neck showed acanthosis nigricans.
Visual field examination revealed evidence of bitemporal haemianopia. I would like to
complete my examination by checking his blood pressure, blood sugar, and examine the
cardiovascular system.
 Acromegaly 203

Figure 6.4 Prognathism and wide

spacing of teeth.

Figure 6.5 Prominent supraorbital ridge and cutis

verticis gyrata in patients with acromegaly.

Figure 6.6 Spade-shaped hands

and large feet in patients with
acromegaly.

How to examine a case of acromegaly?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Inspect the patient’s height, face, and neck for:
–– Tall stature.
–– Cutis verticis gyrata (Figure 6.5).
204 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

–– Coarse facial features.

–– Prominent supraorbital ridge (Figure 6.5).
–– Large nose and lips.
• Ask the patient to show his/her teeth and open the mouth. Observe for:
–– Prognathism (Figure 6.4).
–– Large tongue.
–– The wide spacing of the teeth (Figure 6.4).
• Examine the patient’s hands for:
–– Spade shape (Figure 6.6).
–– Doughy feeling of hands.
–– Tight rings.
• Examine for carpal tunnel syndrome.
• Examine the axilla and the neck for evidence of acanthosis nigricans and an increased
number of skin tags (Figure 6.7).
• Examine the visual field for bitemporal haemianopia.
• Tell the examiner that you would normally examine the blood pressure and heart, test
for blood sugar, and ask the patient about a change in shoes or ring size.
Examiner: Why does this patient have nocturnal breathlessness?
Candidate:
• Patients with acromegaly are at high-risk of obstructive sleep apnoea, which may cause
nocturnal apnoeas.
• Patients with acromegaly are at high-risk of congestive heart failure, which can cause
orthopnoea and paroxysmal nocturnal dyspnoea.
Examiner: Why does this patient have hand pain?
Candidate:
• Carpal tunnel syndrome.
• Hypertrophic arthropathy from synovial enlargement.

Figure 6.7 Acanthosis nigricans and increased skin

tags in the axilla and neck.
 Acromegaly 205

Examiner: How would you confirm the diagnosis of acromegaly?

Candidate:
• Measurement of growth hormone (GH) after administration of 75 g oral glucose:
Elevated GH levels (>10 ng/mL) after oral glucose in the presence of clinical features of
acromegaly confirms the diagnosis.
• Elevated IGF-1 values are the best single test for the diagnosis of acromegaly.
• Magnetic resonance imaging (MRI) to image pituitary adenomas.
Examiner: Why is IGF-1 better than GH in establishing the diagnosis of acromegaly?
Candidate: Serum GH levels vary during the day according to the food intake, sleep,
exercise, etc. Serum IGF-1 levels do not vary during the day and are elevated in almost all
patients with acromegaly.
Examiner: Do you know any other causes of acromegaly (other than pituitary tumours)?
Candidate:
• Hypothalamic tumour secreting growth hormone-releasing hormone (GHRH).
• Ectopic GH or GHRH secretion from pulmonary carcinoid or small cell lung cancer.
Examiner: What conditions, other than acromegaly, can give acromegalic appearance?
Candidate:
• Familial tall stature.
• Cerebral gigantism (Sotos syndrome).
• Pseudoacromegaly: Acromegalic features with normal hormonal tests in patients with
insulin resistance.
• McCune–Albright syndrome.
Examiner: How would you treat this patient?
Candidate:
• Pituitary surgery is the mainstay treatment of acromegaly.
• Medical therapy with drugs such as octreotide and bromocriptine is indicated for
patients who cannot undergo surgery or fail surgical treatment.
• Radiotherapy for patients whose disease is not controlled by surgery and medical
therapy.
Examiner: Which clinical features of acromegaly are expected to improve after surgery?
Candidate:
Clinical features that may improve after surgery:
• Diabetes.
• Soft tissue abnormalities (gradual).
Clinical features that do not improve with treatment:
• Bony abnormalities.
• Joint disease.
Examiner: Which type of malignancy are patients with acromegaly at risk of?
Candidate: Colon cancer and polyps.
Examiner: What is the most common cause of death in patients with acromegaly?
Candidate: Cardiovascular disease.
206 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Examiner: Why do patients with acromegaly have a high-risk of heart failure and
cardiovascular disease?
Candidate:
• Excess GH in acromegaly can cause characteristic cardiomyopathy called acromegalic
cardiomyopathy characterised by biventricular hypertrophy and myocardial fibrosis.
• They have a high-risk of developing hypertension.
• Obstructive sleep apnoea increases cardiovascular risk.

Cushing’s syndrome
Common instructions

•• This lady complains of low back pain. Please perform a general physical examination
and proceed accordingly.
•• This gentleman has persistently high blood pressure. Please perform a general
physical examination and proceed accordingly.
•• This woman complains of long-standing joint pain and fatigue. Please perform a
general physical examination and proceed accordingly.
•• This lady complains of weight gain. Please perform a general physical examination
and proceed accordingly.

Common pitfalls
• Failure to recognise the features of Cushing’s syndrome.
• Failure to observe the signs of the underlying disease for which steroid therapy was
prescribed such as rheumatoid arthritis (RA) or systemic lupus erythematosus (SLE).
• Failure to suspect spine fractures or avascular necrosis as causes of low back pain.

Important clue
In clinical examinations, Cushing’s syndrome is most frequently encountered as an
iatrogenic type from long-term exogenous steroid use. During the examination, observe
for features of the underlying disease for which steroids are being used. Examples are RA,
SLE, interstitial lung disease (ILD) (patient may be using oxygen, with dyspnoea or has
finger clubbing), and a renal transplant patient.

The typical presentation of the findings

This pleasant lady has truncal obesity with thin arms and legs. Her face is rounded ‘moon-
like’ with red cheeks. She has a thin skin with oral thrush. Eye examination showed a
cloudy lens with an absent red reflex. She has a neck hump and acne over the back. She
also has pinkish abdominal striae. She cannot stand from a squatting posture suggesting
proximal muscle weakness. My diagnosis is Cushing’s syndrome. I would like to complete
my examination by measuring her blood pressure and blood sugar and ask her about
exogenous steroid use.
 Cushing’s syndrome 207

How to examine a patient with suspected Cushing’s syndrome?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Inspect the patient’s face and trunk for:
–– Truncal obesity with thin limbs.
–– Dry and brittle hair.
–– Rounded, ‘moon-like’ face.
–– Red cheeks.
–– Hirsutism.
–– Ecchymosis over the arms.
–– Acanthosis nigricans.
• Hold the hand of the patient and pinch the skin to look for thin skin (inform the patient
before you do that).
• Examine the eyes for cataracts.
• Ask the patient to open the mouth and look for oral thrush.
• Look at the back of the neck and the back for:
–– Buffalo hump.
–– The presence of acne.
• Move to the abdomen and examine for:
–– Pink striae over the abdomen (Figure 6.8).
–– Ecchymosis.
–– Thin skin.
• Test for proximal muscle weakness.
• Inform the examiner that you would like to measure the blood pressure and check the
blood sugar and ask about iatrogenic steroid use.
• Important note: Avoid mentioning the word ‘buffalo’ in front of patients.
Examiner: Why does this patient have low back pain?
Candidate:
• Patients with Cushing’s syndrome are at risk of osteoporosis and vertebral fractures.
• Patients with Cushing’s syndrome are at increased risk of avascular necrosis of the head
of the femur, which may give hip or low back pain.

Figure 6.8 Pink abdominal striae in a patient with

Cushing’s syndrome.
208 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Examiner: What do you suspect is the cause of her joint pain?

Candidate: Joint pain may be due to the underlying condition necessitating steroid use
such as RA or SLE.
Examiner: What is the most common cause of Cushing’s syndrome?
Candidate: Iatrogenic, due to the use of steroids.
Examiner: What are the other causes of Cushing’s syndrome?
Candidate:
Adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome:
• Pituitary adenoma ‘Cushing’s disease’.
• Ectopic ACTH.
ACTH independent Cushing’s syndrome:
• Adrenal adenoma.
• Adrenal carcinoma.
Pseudo-Cushing’s syndrome:
• Alcoholism.
• Depression.
Examiner: Can you name some conditions associated with ectopic ACTH secretion?
Candidate: Small cell lung cancer, carcinoid tumours, medullary carcinoma of the
thyroid, and islet cell tumours.
Examiner: What biochemical tests suggest ectopic ACTH-related Cushing’s syndrome?
Candidate:
• Presence of profound hypokalaemia.
• Markedly elevated plasma ACTH levels not suppressed by a high-dose (8 mg)
dexamethasone suppression test.
Examiner: Is there any clinical sign that can tell if the cause is from ectopic ACTH
production due to tumours?
Candidate: The presence of hyperpigmentation in patients with Cushing’s syndrome
is suggestive of ectopic ACTH secretion. This is because the melanocyte-stimulating
hormone is secreted along with ACTH during its production.
Examiner: How would you investigate this patient?
Candidate:
• Ask about the exogenous use of corticosteroids.
• Tests to differentiate true Cushing’s from pseudo-Cushing’s syndrome:
–– 24-hour urinary free cortisol.
–– Overnight 1 mg dexamethasone suppression test.
–– Late-night salivary cortisol: This test is becoming a widely accepted initial test
because it is simple, easy to perform, and accurate.
• Serum ACTH level:
–– High: ACTH-dependent Cushing’s syndrome.
–– Low: ACTH independent Cushing’s syndrome.
• ACTH-dependent Cushing’s syndrome:
–– Do a high-dose dexamethasone suppression test:
■■ Suppressed: Pituitary adenoma.
■■ Not suppressed: Ectopic ACTH.
 Pseudohypoparathyroidism 209

–– Do MRI pituitary.
–– Do chest and abdominal MRI.
–– ACTH independent Cushing’s syndrome:
■■ Do adrenal MRI.
Examiner: How would you manage this patient?
Candidate:
• Investigations as mentioned above.
• Gradually stop or decrease the dose of steroids, if iatrogenic.
• Trans-sphenoidal surgery in pituitary-related Cushing’s disease.
• Adrenalectomy in adrenal tumours.
Examiner: What other important points do you consider when managing such patients?
Candidate:
• Monitor and treat diabetes and hypertension.
• Bone densitometry and use of bisphosphonates.
• Ophthalmologic check-up for cataract.

Pseudohypoparathyroidism
Common instructions

•• This lady complains of paraesthesia in her hands. Please examine the hands and
proceed accordingly.
•• This lady was referred from her general practitioner (GP) for investigation of short
stature. Please examine her hands and proceed accordingly.
•• This lady has recurrent seizure episodes. Please examine her hands and proceed
accordingly.

Common pitfalls
Candidates frequently miss the short fourth and fifth fingers (particularly when the
scenario is of paraesthesia of the hands) and wrongly suspect carpal tunnel syndrome.

The typical presentation of the findings

This lady appears short and obese with a moon-like face and short neck. She has
obvious shortening of the fourth and fifth fingers. She has a negative Chvostek’s sign.
The sensory examination of the hands is normal. These features are suggestive of
pseudohypoparathyroidism. I would like to complete my examination by checking for
Trousseau’s sign and ask about family history.

Important clues
• The most common two scenarios in clinical examinations are either a patient
presenting with paraesthesia in the hands (tingling and numbness) or referred by her
GP for investigation of short stature.
• A less common scenario is a referral for investigation of recurrent seizure episodes.
210 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

• Findings of short fourth and fifth fingers are usually classical but many candidates tend
to miss them.
• It is also important to notice that almost all cases seen in the examination are females.
This is because the disease is rare and the female-to-male ratio is almost double.
• Therefore, when you have a female patient in an examination referred for
investigation of short stature, the three most likely possibilities are Turner syndrome,
pseudohypoparathyroidism, or congenital hypothyroidism.

How to examine a case of pseudohypoparathyroidism?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Perform a general inspection of the patient and observe for:
–– Short stature.
–– Moon-like face.
–– Short neck and obesity.
• Ask the patient to open the mouth to see hypoplasia and missing teeth.
• Examine the hands for short fourth and fifth metacarpal bone resulting in shortening of
these fingers (Figure 6.9).
• Perform Chvostek’s and Trousseau’s signs for hypocalcaemia.
• Tell the examiner that you would like to ask about family history and symptoms of
paraesthesia and that you would like to examine the feet for shortened metatarsal bones.
Examiner: What do you think is the cause for her hand numbness?
Candidate: Hypocalcaemia.
Examiner: What is the pathophysiology behind pseudohypoparathyroidism?

Figure 6.9 Short fifth metacarpal bone in a patient

with pseudohypoparathyroidism.
 Turner syndrome 211

Candidate: Type 1 is inherited as autosomal dominant disease. Patients with

pseudohypoparathyroidism (PHP) develop resistance to parathyroid hormone (PTH)
action leading to hypocalcaemia, hyperphosphataemia and increased PTH. The elevated
PTH in the blood results from stimulation by hypocalcaemia. Due to tissue resistance to
PTH, the administration of exogenous PTH fails to produce adequate phosphaturia and to
stimulate kidneys to produce cyclic adenosine monophosphate (c-AMP).
Examiner: What are the other causes of short fourth and fifth metacarpal bones?
Candidate:
• Turner syndrome.
• Idiopathic.
• Pseudo-pseudohypoparathyroidism.
• Sickle cell anaemia.
• Trauma.
• Homocystinuria.
Examiner: What is the difference between pseudohypoparathyroidism and
pseudo-pseudohypoparathyroidism?
Candidate: In pseudo-pseudohypoparathyroidism, there will be morphological features
of PHP but the biochemical parameters are normal.
Examiner: What other complications may happen?
Candidate: Elevation of PTH in the blood may lead to tissue calcification, cataract, and
band keratopathy.
Examiner: How would you manage this patient?
Candidate:
• Identify low serum calcium, high phosphorus, and high PTH.
• Failure of the c-AMP to increase after administration of PTH.
• TFT (hypothyroidism may occur).
• The treatment is the administration of calcium and vitamin D to correct hypocalcaemia
and suppress the level of PTH (this is the main treatment).
• Genetic and family counselling.

Turner syndrome
Common instructions

•• This lady has low back pain. Please perform a general physical examination and
proceed accordingly.
•• This lady has uncontrolled blood pressure. Please perform a general physical
examination and proceed accordingly.
•• This lady was referred by her GP for evaluation of short stature. Please perform a
general physical examination and proceed accordingly.
•• This patient was referred from infertility clinic. Please perform a general physical
examination and proceed accordingly.
212 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Common pitfalls
• Candidates may fail to observe webbing of the neck, if the neck is covered by upper
clothes. Make sure you ask the patient to expose the neck.
• Candidates tend to forget the risk of osteoporosis associated with Turner syndrome.

Important clues
The three most common causes of short stature in clinical examinations are Turner
syndrome, pseudohypoparathyroidism, or rarely congenital hypothyroidism.

The typical presentation of the findings

This pleasant lady appears short. She has a webbed neck with epicanthic folds and a
high-arched palate. Her back hairline is low. Her carrying angle is wide. There is no
radiofemoral delay. I would like to complete my examination by measuring her blood
pressure, examine the pubic and axillary hair, breasts, and examine the cardiovascular
system. The most likely diagnosis is Turner syndrome.

How to examine a case of Turner syndrome?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Start by inspection:
–– Observe the patient’s short stature.
–– Webbed neck (note that you have to obtain proper exposure to see the webbed neck).
–– The hairline at the back: Low hairline.
–– Face: Epicanthic folds, small chin, and prominent ears.
• Ask the patient to open her mouth to look for a high-arched palate.
• Move to the hands and arms, and:
–– Observe the presence of a wide carrying angle (cubitus valgus).
–– Check for the radiofemoral delay.
–– Short fourth and fifth metacarpal bones.
–– Hypoplastic nails
• Tell the examiner that you would like to:
–– Check the blood pressure.
–– Examine the heart for evidence of coarctation/scars suggesting coarctation repair.
–– Examine the pubic and axillary hair.
–– Examine the chest for widely spaced nipples and shield chest.
Examiner: What is the cause of low back pain in this patient?
Candidate:
• Patients with Turner syndrome are at risk of osteoporosis because of primary
hypogonadism and this may lead to vertebral fractures.
• Coarctation of the aorta may lead to aortic dissection.
Examiner: How common is coarctation of the aorta in adults with Turner syndrome?
Candidate: Almost one-third of adults with Turner syndrome will have coarctation of
the aorta.
Examiner: What are the clinical signs of coarctation of the aorta?
 Deforming arthropathy of the hands 213

Candidate:
• Radiofemoral delay due to delayed or weak pulses distal to the coarctation.
• Low or undetectable blood pressure in the lower limbs.
• Ejection systolic murmur over left sternal edge/infraclavicular area radiating to the
back (infraclavicular to infrascapular).
• Signs of left ventricular overload.
Examiner: What should you suspect if you see a male with clinical features of Turner
syndrome?
Candidate: Noonan syndrome. It may occur in males and females and is considered the
male version of Turner syndrome.
Examiner: What renal abnormality may be found in the US of this patient?
Candidate:
• Horseshoe kidneys.
• Renal agenesis.
• Double collecting system.
Examiner: Can a patient with Turner syndrome get pregnant?
Candidate: About 98% of patients with Turner syndrome have ovarian dysgenesis and are
infertile. However, 2%, those with the mosaic type of Turner syndrome may still produce
follicles and can get pregnant.
Examiner: How would you manage this patient?
Candidate:
• Regular cardiac evaluation.
• Regular blood pressure monitoring.
• Check luteinising hormone (LH), follicle-stimulating hormone (FSH), and TFT.
• Hormone replacement therapy – for the development of secondary sexual
characteristics and osteoporosis prevention.
• GH therapy for short stature (children).
• Renal ultrasound.

Deforming arthropathy of the hands

Common instructions

•• This lady complains of fatigue and found to have a haemoglobin level of 7 g/dL.
Please perform hand examination.
•• This gentleman complains of hand pain. Please examine his hands.
•• This gentleman presented with acute kidney injury. Please examine his hands.

How to examine a patient with deforming arthritis of the hands?

• Wash your hands.
• Introduce yourself to the patient.
214 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

• Avoid shaking hands with the patient, as it may be painful.

• Ask the patient if he/she has any pain in the hands and to alert you in case he/she feels
any pain during the examination.
• Make your patient comfortable by providing a pillow to place his/her hands on during
examination.
• Inspect the patient first:
–– Peaked nose – scleroderma (Figure 6.10).
–– Puckering of the mouth – scleroderma (Figure 6.10).
–– Telangiectasia – scleroderma (Figure 6.11).
–– Malar rash – SLE.
–– Heliotrope rash of dermatomyositis.
–– Cushingoid appearance – steroid treatment for the primary disease.
–– Psoriatic skin rash (Figures 6.12 and 6.13).
–– Red eye – uveitis (ankylosing spondylitis) (Figure 6.14).
• Inspect the hands (palmar and dorsal aspects) for the presence of:
–– Joint swelling and the pattern of joint involvement (distal arthropathy, proximal,
etc.) (Figures 6.12 and 6.15).
–– Redness.
–– Various deformities (Figure 6.15).
–– Muscle wasting (guttering/grooving/thenar/hypothenar) (Figure 6.15).

Figure 6.10 Peaked nose and puckering of the mouth

in systemic sclerosis.

Figure 6.11 Telangiectasia in a patient with systemic

sclerosis.
 Deforming arthropathy of the hands 215

–– Skin rash such as a psoriatic rash (Figure 6.13).

–– Digital ulcers (Figure 6.16).
–– Sclerodactyly (Figure 6.16).
–– Nail fold infarcts (Figure 6.16).
–– Gouty tophi (Figure 6.17).
–– Pitting of the nails (sometimes the only clue to psoriatic arthropathy).
–– Onycholysis (Figure 6.12).
–– Gottron nodules/papules in dermatomyositis (Figure 6.18).
• Palpation:
–– Feel the joints for hotness, tenderness, and synovial thickening.
–– Palpate the radial pulse (for Raynaud’s phenomenon).

Figure 6.12 Psoriatic arthropathy

[observe the involvement of distal
interphalangeal (DIP) and the
onycholysis].

Figure 6.13 Severe psoriatic

arthropathy may mimic
rheumatoid arthropathy (observe
the psoriatic rash).

Figure 6.14 Anterior uveitis in a patient with

ankylosing spondylitis.
216 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Figure 6.15 Different hand

deformities in rheumatoid
arthritis [observe the boutonniere
deformity in the right little
finger, swan neck deformity in
the left middle, ring and little
fingers and Z deformity of the
left thumb, ulnar deviation of
the left hand, subluxation of
metacarpophalangeal (MCP) joints,
and wasting of the small hand
muscles].

Figure 6.16 Typical hand changes

in systemic sclerosis (observe the
nail fold infarcts in the right index
and middle fingers, sclerodactyly
of the right fingers, digital ulcers
left fingers, and contractures of the
fingers because of tight skin).

Figure 6.17 Chronic tophaceous

gout with gouty tophi and
arthropathy.
 Deforming arthropathy of the hands 217

Figure 6.18 Gottron nodules/papules in

dermatomyositis (observe also the periungual
erythema).

• Movement:
–– Examine all the movements of the hand, thumb, digits, and wrists.
• Hand function: Ask the patient to—
–– Button or unbutton clothes.
–– Write with a pen.
–– Hold a cup or a bottle.
• Test for the presence of carpal tunnel syndrome:
–– Tinel’s sign (refer Figure 5.13: Part 5).
–– Phalen’s sign (refer Figure 5.14: Part 5).
• Examine the elbows:
–– Hand examination is never complete without examining the elbows and the ears.
–– Move up to the extensor surfaces of the arms and elbows to check for rheumatoid
nodules, psoriatic skin rash, or gouty tophi (Figures 6.13 and 6.19).
• Examine the ears:
–– Check the ears for tophi and behind the ears and scalp for psoriatic rash (Figure 6.20).
• Examine the chest and back for:
–– Salt and pepper skin rash and telangiectasia in case of systemic sclerosis (Figures
6.11 and 6.21).
–– V-sign (Figure 6.22) and shawl sign (Figure 6.23) in the case of dermatomyositis.
• Inform the examiner that you would normally examine other joints in the body
including the sacroiliac joints and the eyes for episcleritis or uveitis (Figure 6.14).

Common pitfalls
• Rough manipulation of the patient’s hands that leads to pain and discomfort.
• Failure to spot pitting of the nails in psoriatic arthropathy.
• Failure to spot psoriatic skin rash over the extensor surfaces and scalp.
218 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Figure 6.19 Hand examination is

never complete without examining
the elbows and extensor surfaces
of the forearm (observe the
presence of rheumatoid nodules).

Figure 6.20 Hand examination is never complete

without examining the ears and the scalp (observe
the presence of tophi in the ear lobe pinna and the
psoriatic skin rash).
 Deforming arthropathy of the hands 219

Figure 6.21 Salt and pepper skin

rash in a patient with systemic
sclerosis.

Figure 6.22 V-sign in a patient with dermatomyositis.

Figure 6.23 Shawl sign in a patient

with dermatomyositis.

• Failure to examine the ears for tophi, the elbows for rheumatoid nodules and the scalp
(hairlines) and extensor surfaces for psoriatic rash.
• Mistaking gouty tophi as rheumatoid nodules.

Common causes of deforming arthropathy and rheumatological

disorders in clinical examinations
• Rheumatoid arthritis.
• Psoriatic arthritis.
• Gouty arthritis.
• Systemic sclerosis.
• Osteoarthrosis.
• Dermatomyositis.
220 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Examiner: How do you differentiate rheumatoid from other causes of hand arthritis?
Candidate:
Rheumatoid hands (Figures 6.15 and 6.19):
• Symmetrical arthritis.
• Involvement of proximal and metacarpophalangeal (MCP) joints, wrists, elbows,
shoulders, knees, ankles, and metatarsophalangeal joints.
• Sparing of distal interphalangeal (DIP) joints.
• Presence of typical rheumatoid deformities such as boutonniere deformity, swan neck
deformity, and Z deformity of the thumb (they can be seen in other conditions such as
advanced psoriatic arthritis).
• Presence of rheumatoid nodules and the presence of nail bed or digital infarcts.
Psoriatic arthritis (Figures 6.12 and 6.13):
• Usually asymmetrical involvement.
• Involvement of DIP joints.
• Dactylitis (sausage-shaped fingers).
• The presence of nail pitting is typical and can be easily missed by candidates.
• Presence of onycholysis.
• Presence of psoriatic skin rash (it can be seen over other places such as scalp or
neckline). In as many as 15–20% of patients, arthritis appears before psoriasis.
Gouty arthritis:
• Presence of tophi (lumps/nodules over the fingers, wrists, and other joints) (Figure 6.17).
• Asymmetrical involvement.
Osteoarthrosis (Figure 6.24):
• Involvement of DIP with sparing of the wrist and the MCP joints.
• The presence of Heberden’s nodes (bony swellings in the DIP joints) and/or Bouchard’s
nodes [bony swellings in the proximal interphalangeal (PIP) joints].
Systemic sclerosis: See section on systemic sclerosis.
Dermatomyositis: See section on dermatomyositis.
Examiner: What do you think is the cause of anaemia in this patient?

Figure 6.24 Nodal osteoarthrosis

(observe the Heberden’s and
Bouchard’s nodes).
 Deforming arthropathy of the hands 221

Candidate:
• The use of nonsteroidal anti-inflammatory drugs (NSAIDs) may cause gastrointestinal
bleeding.
• The use of immunosuppressant medications may cause bone marrow suppression.
• Anaemia from the disease itself (anaemia of chronic diseases).
• Methotrexate-induced folate deficiency.
• Hydroxychloroquine-induced haemolytic anaemia.
Examiner: What are the patterns of psoriatic arthritis (Figures 6.12 and 6.13)?
Candidate:
• Asymmetrical oligoarticular arthritis.
• Symmetrical polyarthritis.
• Distal interphalangeal arthropathy.
• Arthritis mutilans (Figure 6.13).
• Spondylitis with or without sacroiliitis.
Examiner: What are the deformities and changes seen in rheumatoid hands
(Figures 6.15 and 6.19)?
Candidate:
• Boutonniere deformity.
• Swan neck deformity.
• Z deformity of the thumb.
• Trigger finger.
• Ulnar deviation of the hand.
• Spindling of the fingers.
• Wasting of the small muscles of the hands.
• Synovial thickening.
• Rheumatoid nodules.
• Palmar erythema.
• Carpal tunnel syndrome.
Examiner: What is the meaning of ‘boutonniere’? And why was this name applied?
Candidate: ‘Boutonniere’ is a French word that means a ‘buttonhole’. The extensor tendon
has one central slip and two lateral bands. In boutonniere deformity, the central slip will be
ruptured causing the head of the proximal phalanx to protrude through the gap between
the two lateral bands (Figure 6.15) like a finger inserted in the buttonhole of the cloths.
Examiner: What is the cause of gout?
Candidate: Gout is caused by hyperuricaemia and monosodium urate crystal deposition.
Uric acid is a waste product of purine metabolism. Monosodium urate crystal formation
occurs when the uric acid level exceeds 6.8 mg/dL in the blood. Risk factors for gout
include:
• Genetic predisposition.
• Renal failure.
• Diuretic use.
• High purine diet.
• Alcohol consumption.
• Myeloproliferative diseases.
• Diabetes mellitus.
Examiner: What is podagra? Is it specific for gout?
222 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Candidate: Podagra can be the initial manifestation of gout. It is a sudden pain, swelling,
and redness (due to inflammation) in the metatarsophalangeal joint of the great toe
(Figure 6.25). Although it is highly suggestive of acute gout, it can be seen in other
conditions such as acute gonococcal arthritis and pseudogout.
Examiner: What are the complications of gout?
Candidate:
• Chronic tophaceous gout resulting in joint destruction.
• Chronic urate nephropathy.
• Renal stones.
• Secondary joint infection.
• Rarely: Compression of the spinal cord, if the tophi occur in the spine.
Examiner: How would you investigate a patient with deforming arthropathy?
(Note: Investigations should be guided by the clinical suspicion.)
Candidate:
• CBC, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and serum urate
level.
• Rheumatoid factor.
• Anti-cyclic citrullinated protein (anti-CCP).
• Joint aspiration:
–– RA findings: WBC 1,500–25,000/mm3 predominantly polymorphonuclear cells and
low glucose.
–– Gout: Crystals (needle-shaped and negatively birefringent).
• Hand X-ray/MRI: Radiological features of RA include—
–– Joint space narrowing.
–– Bone erosions (cardinal feature).
–– Soft tissue swelling.
Examiner: How would you treat RA affecting the hands?

Figure 6.25 Podagra is a sudden

pain, swelling, and redness in the
metatarsophalangeal joint of the
great toe and can be the initial
manifestation of gout.
 Ankylosing spondylitis 223

Candidate:
• Early administration of nonbiologic and biologic disease-modifying antirheumatic drugs
(DMARDs) alone or in combination is currently recommended as they induce remission
and prevent disease progression [anti-tumour necrosis factor (TNF) agent, methotrexate,
hydroxychloroquine, steroids, leflunomide, azathioprine, sulfasalazine, etc.].
• NSAIDs and pain killers.
• Cold therapy to relieve pain and inflammation: Ice packs or ice water.
• Occupational therapy.
• Rehabilitation: Orthotic and splint devices.
• Surgical referral for deformity correction.
Examiner: How would you treat gouty arthritis?
Candidate:
• Acute arthritis treatment:
–– NSAIDs.
–– Colchicine.
–– Corticosteroids.
–– Adrenocorticotropic hormone.
–– Intra-articular steroids.
• Prevent recurrent attack (lowering serum uric acid level): Allopurinol and febuxostat
(should not be used alone in an acute attack as it can exacerbate gout).
• Nonpharmacologic measures:
–– Restrict high-purine food consumption.
–– Adequate hydration.
–– Avoid excess of alcoholic drinks, particularly beer.
–– Avoid sodas and beverages sweetened with high-fructose corn syrup.
–– Weight reduction.

Ankylosing spondylitis
Common instructions

•• This gentleman complains of low back pain. Please perform a general physical
examination and proceed accordingly.
•• This gentleman presented with high creatinine level. Please perform a general
physical examination and proceed accordingly.

Common pitfalls
• Candidates fail to consider ankylosing spondylitis in a patient who cannot rotate his
head during the examination.
• Failure to spot the typical posture of a patient with ankylosing spondylitis.
• Candidates do not know the causes of back pain in patients with ankylosing spondylitis.
• Lack of proper examination technique of ankylosing spondylitis patients.
224 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

The typical presentation of the findings

This patient has features suggestive of ankylosing spondylitis as evidenced by a question
mark posture with loss of lumbar lordosis and protruding abdomen. There is a restriction
of the spinal movement in all directions. Occiput-to-wall distance is increased and the
modified Schober test is positive. There is a reduction in the lateral spine flexion as well.
There is no clinical evidence of sacroiliitis. The eye examination did not show evidence of
uveitis. I would like to examine the lungs for the presence of apical fibrosis and the heart
for evidence of aortic regurgitation (AR).

How to examine a patient with suspected ankylosing spondylitis?

• Wash your hands.
• Introduce yourself to the patient.
• Request the patient to stand up to see the typical posture and perform the modified
Schober test and occiput-to-wall test.
• Inspect the patient (Figure 6.26):
–– Question mark posture.
–– Loss of lumbar lordosis.
–– Protruding abdomen.
–– Inability to rotate the neck.
• Ask the patient to move his neck in all directions and observe that the patient cannot
rotate his/her head without moving the whole trunk and that there is a limitation of all
neck movements.
• Perform the modified Schober test.

Figure 6.26 Characteristic features of ankylosing

spondylitis (observe the question mark posture, the
loss of lumbar lordosis, and the protruding abdomen).
 Ankylosing spondylitis 225

• Perform the occiput-to-wall distance test.

• Perform the lumbar side flexion test.
• Examine for sacroiliac joint tenderness.
• Look at the eyes for the presence of acute uveitis (Figure 6.14).
• Inform the examiner that you would like to examine the chest and heart for evidence of
apical lung fibrosis and AR.
Examiner: How do you perform the modified Schober test?
Candidate:
Modified Schober test:
With the patient standing erect, make a mark over a line joining the posterior superior
iliac spines (or over the spinous process of the 5th lumbar vertebra or the line joining the
dimples of Venus). Put a mark in the middle of the line. Make a mark 5 cm below the line
and another mark 10 cm above it in the midline. The distance between the two marks will
be 15 cm when the patient is erect. Now, you ask the patient to bend maximally forward
keeping the knees straight and then remeasure the distance between the two points
again. The difference between the two measurements should exceed 5 cm in normal
people. In patients with ankylosing spondylitis, the difference will be < 5 cm.
Occiput-to-wall distance testing:
The patient should stand with the back to the wall. Ears and nose should be at the same
horizontal level. Normally, the distance between the occiput and the wall should be zero.
This distance increases in ankylosing spondylitis.
The lumbar side flexion test:
Ask the patient to stand with the back against the wall. Heels should touch the wall as
well. Arms and the fingers should be extended as far as the patient can, without bending
the spine. Record a measurement from the tip of the middle finger to the ground. Now, ask
the patient to side flex his/her spine as far as possible (make sure the back and heels still
against the wall and the back does not rotate). Measure the middle finger to the ground
again. Normally, the difference should exceed 10 cm.
Examiner: How would you test for sacroiliac joint tenderness at the bedside?
Candidate: By the Faber and Gaenslen’s test (Faber means flex, abduct, and externally
rotate – not the name of a person).
Faber test: With the patient supine, flex, abduct, and externally rotate the hip joint by
placing the heel on the opposite leg. Then push down on the knee, while stabilising the
opposite pelvis. The test is considered positive, if the patient feels lower back or sacroiliac
pain.
Gaenslen’s test: The patient lies supine at the edge of the bed with one leg hanging off the
bed while using his/her hands to bring the other knee to the chest. The examiner applies a
firm pressure on the knee hanging from the bed and the knee towards the patient’s chest.
The test is positive, if the patient feels pain in the back or buttock.
Examiner: What are the complications of ankylosing spondylitis?
Candidate: (Ankylosing spondylitis is the eight ‘A’ disease)—
1. Ankylosis.
2. Aortitis and aortic regurgitation.
3. Amyloidosis.
226 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

4. IgA nephropathy.
5. Anterior uveitis.
6. Apical fibrosis.
7. Arthritis.
8. Achilles tendinitis (peripheral enthesitis).
Examiner: What is enthesitis?
Candidate: It is inflammation of the region of attachment of tendons and ligaments to
the bones. It can occur in ankylosing spondylitis and other spondyloarthritis. The most
common site is the calcaneal attachment of the Achilles tendon.
Examiner: Why does this patient have a high creatinine level? What are the causes of
renal disease in ankylosing spondylitis?
Candidate:
• Drugs (NSAIDs).
• Amyloidosis.
• IgA nephropathy.
Examiner: Why does this patient have back pain? What are the causes of low back pain in
a patient with ankylosing spondylitis?
Candidate:
• Sacroiliitis.
• Spinal cord compression and cauda equina syndrome.
• Fracture of the ankylosed spine.
Examiner: How would you manage this patient?
Candidate:
Investigations:
• ESR/CRP.
• X-ray of the spine – particularly the lumbar and cervical spine. Findings include:
–– Loss of the lumbar lordosis.
–– Squaring of the vertebra.
–– Bamboo spine (calcification of ligaments, a fusion of the spinal facets and
syndesmophytes).
• Imaging of the sacroiliac joint such as X-ray and MRI: Look for erosions, sclerosis,
narrowing, or ankylosis of the sacroiliac joints.
Treatment:
Nonpharmacologic:
• Exercise.
• Hydrotherapy.
• Stop smoking.
Pharmacologic:
• nonsteroidal anti-inflammatory drugs.
• Sulfasalazine.
• Biologic agents and anti-TNF, e.g. etanercept, adalimumab, etc.
Surgical:
• Total hip arthroplasty, spinal surgery for severe flexion deformities of the spine, and
cervical fusion for atlantoaxial dislocation.
 Systemic sclerosis 227

Systemic sclerosis
Common instructions

•• This lady found to have persistently high blood pressure of 220/120mmHg. Please
examine her hands and proceed accordingly.
•• This lady presented with fatigue and a haemoglobin level of 7 g/dL. Please perform
hand and important relevant examinations.
•• This lady complains of pain in her hands. Please perform hand and important
relevant examinations.
•• This gentleman complains of gritty eye sensations. Please examine the hands and
proceed accordingly.

Common pitfalls
• Candidates often restrict their examination to the hands and fail to spot the facial and
other features of systemic sclerosis.
• Failure to include Raynaud’s phenomenon in the differential diagnosis of hand pain.
• Failure to recognise the presence of associated keratoconjunctivitis sicca when the
scenario given is for gritty eye sensation.
• Failure to recognise features of systemic sclerosis, if the scenario is to examine the chest
in a patient with lung fibrosis.

The typical presentation of the findings

This woman has features suggestive of systemic sclerosis as evidenced by sclerodactyly
(tightening of the skin of the fingers), atrophy and ulcerations of the fingertips, finger
contractures, and calcinosis in the hands. She has also telangiectasia, pigmentation of
the skin (salt and pepper pigmentation), small beaked nose, and inability to sufficiently
open her mouth with puckering of the mouth and loss of wrinkling over the face. Her hand
function seems significantly impaired. I would like to examine her chest for evidence
of ILD, her heart for evidence of pulmonary hypertension, and ask her few questions
regarding Raynaud’s phenomenon and Sjögren's syndrome.

How to examine a patient with suspected systemic sclerosis?

• Wash your hands.
• Introduce yourself to the patient and request permission for examination.
• Avoid shaking hands with the patient, as it might be painful.
• Inspect the patient for the presence of:
–– Beaked nose (Figure 6.10).
–– A small mouth with a puckered appearance of the lips (Figure 6.10).
–– Telangiectasia (Figure 6.11).
–– Tight skin of the face with the absence of facial wrinkling.
–– Ask the patient to open her/his mouth and to insert three of their hand fingers into
their mouth.
• Examine the hands for:
–– Presence of tight and shiny skin (sclerodactyly) (Figure 6.16).
–– Fingertip ulcerations and atrophy (Figure 6.16).
228 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

–– Contractures (Figure 6.16).

–– Nail fold infarcts (Figure 6.16).
–– Think of calcinosis, if you find hard whitish swellings in the fingers/elbows
(Figure 6.27).
–– Feel the pulse (Raynaud’s phenomenon).
–– Examine for tenderness, swelling, and arthropathy.
• Examine hand movement.
• Examine the hand function.
• Move to the elbows and look for evidence of calcinosis (Figure 6.27).
• Inspect the chest for:
–– Salt and pepper skin (tiny spots of hyperpigmentation and depigmentation)
(Figure 6.21).
–– Telangiectasia (Figure 6.11).
• Inform the examiner that you would like to complete your examination by:
–– Performing lung examination for evidence of ILD.
–– Performing cardiovascular system examination for evidence of pulmonary
hypertension.
–– Ask about Raynaud’s phenomenon, dysphagia, and sicca syndrome.
Examiner: Why do you think this patient is pale (anaemic)?
Candidate:
Anaemia in systemic sclerosis may be due to:
• Anaemia of chronic disease.
• Low vitamin B12 due to malabsorption and bacterial overgrowth.
• Iron deficiency anaemia secondary to gastrointestinal blood loss from recurrent
oesophagitis and gastroesophageal reflux disease (GERD) or angiodysplasia.
Examiner: Why does the patient have a high blood pressure of 220/120mmHg? What
would you suspect?
Candidate: Scleroderma renal crisis, which is a medical emergency characterised by—
• Acute renal failure.

Figure 6.27 Calcinosis in patients

with systemic sclerosis.
 Systemic sclerosis 229

• Sudden onset of severe hypertension.

• Normal or only mild proteinuria.
Treatment of a renal crisis is by prompt control of blood pressure using ACE inhibitors
with frequent monitoring of blood pressure and kidney function.
Examiner: Why does this patient have gritty sensations in her eyes?
Candidate: This is because of associated sicca syndrome/Sjögren's syndrome causing eye
dryness.
Examiner: What causes hand pain in systemic sclerosis?
Candidate:
• Digital ulcers.
• Raynaud’s phenomenon.
• Arthritis and tendinitis.
Examiner: What causes ILD in scleroderma patients?
Candidate:
• Pulmonary involvement by the disease itself.
• Recurrent aspiration due to dysphagia and GERD.
• Bronchiectasis.
• Drugs used in the treatment of scleroderma, e.g. methotrexate.
Examiner: What are the other serious pulmonary complications of scleroderma?
Candidate:
• Pulmonary hypertension.
• Lung cancer.
Examiner: What are the gastrointestinal manifestations of scleroderma? How common
are these manifestations?
Candidate: The gastrointestinal tract is the second most common site of involvement by
scleroderma after skin and can be affected in 50–90% of patients. Manifestations include:
• Dysphagia.
• Gastroesophageal reflux disease.
• Delayed gastric emptying leads to food intolerance and vomiting.
• Small bowl malabsorption that is secondary to bacterial overgrowth.
• Colonic telangiectasia.
• Faecal incontinence from anal canal involvement.
Examiner: How would you manage Raynaud’s phenomenon in this patient?
Candidate:
• Avoid cold exposure and keep hands warm (use gloves).
• Stop smoking and caffeine.
• Avoid certain drugs such as β-blockers and migraine medications.
• Use dihydropyridine-type calcium antagonists, such as oral nifedipine (first-line drugs).
• Sildenafil and nitroglycerine.
• Iloprost or other prostanoids for severe cases.
• Surgical treatment: Sympathectomy.
Examiner: Which diseases may give skin manifestation similar to systemic sclerosis?
230 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Candidate:
• Nephrogenic systemic sclerosis: In patients with end-stage renal disease (ESRD)
.receiving gadolinium.
• Amyloidosis.
• Eosinophilic fasciitis.
• Chronic graft versus host disease.
• Drug-induced sclerosis (bleomycin).
Examiner: How would you manage this patient?
Candidate:
Investigation:
• ESR and CRP: Increased and correlate with disease activity and severity.
• CBC: Thrombocytopaenia and microangiopathic haemolytic anaemia.
• Regular follow-up of kidney function.
• Creatine phosphokinase (CPK) level: Associated polymyositis.
• Serum immunoglobulin: Hypergammaglobulinaemia.
• Antibodies against topoisomerase I (anti-Scl 70) are highly specific for systemic
sclerosis but are only detected in two-thirds of patients.
• Anti-centromere antibodies are most commonly detected in patients with limited
cutaneous sclerosis.
• Echocardiography to assess for pulmonary hypertension.
• High-resolution CT lungs to assess for ILD and oesophageal dilatation
• Pulmonary function testing.
Treatment:
• Treat specific manifestations such as Raynaud’s phenomenon and Sjögren’s
syndrome.
• ILD: Cyclophosphamide.
• Skin manifestations: Methotrexate.
• Proton pump inhibitor for GERD.
• Vasodilator drugs for pulmonary hypertension: Bosentan, sitaxentan, sildenafil, and
epoprostenol.
• As malabsorption in scleroderma is caused by bacterial overgrowth, rotating antibiotics
may be considered in such cases.
• Corticosteroid use should be limited: Steroids are associated with a higher risk of
scleroderma renal crisis. Patients on steroids should be carefully monitored for blood
pressure and renal function.

Takayasu’s arteritis (pulseless disease)

Common instructions

•• This young gentleman was recently admitted for an ischemic stroke. Please examine
his cardiovascular system.
•• This young lady has high blood pressure readings. Please examine her pulse.
 Takayasu’s arteritis (pulseless disease) 231

Common pitfalls
• Failure to recognise the absence of a radial pulse.
• Failure to auscultate over the carotid and subclavian arteries for a bruit.
• Failure to consider Takayasu’s arteritis in the differential diagnosis of absent radial
pulse in a patient with stroke.

The typical presentation of the findings

This young gentleman has an absent right radial pulse. He has bruit over the right carotid
and the right subclavian arteries. There is no bruit over the renal arteries and the rest
of pulses are palpable. I would like to measure the blood pressure in all the four limbs,
examine the heart for evidence of AR, and check the fundus for Takayasu’s retinopathy.

How to examine a patient with suspected Takayasu’s disease?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Observe the patient for evidence of haemiplegia/stroke.
• Examine all pulses in the body.
• Auscultate over the carotid, subclavian, brachial, and femoral arteries for evidence of
bruit (Figure 6.28).
• Auscultate over the renal vessels for a bruit (What are the anatomical landmarks for
auscultation of renal arteries?).
• Inform the examiner that you would like to complete your examination by:
–– Measuring blood pressure in all four limbs to check for the difference in blood
pressure (difference of >10 mmHg is considered significant)
–– Examining the heart for evidence of AR.
Examiner: Which vessels are commonly involved in Takayasu’s arteritis?
Candidate: Takayasu’s arteritis tends to affect large and medium-sized vessels. The most
commonly affected vessels are (Figure 6.28):
• Subclavian and innominate arteries.
• Carotid arteries.
• Renal arteries.
• Pulmonary arteries.

Figure 6.28 Magnetic resonance angiography

showing multiple vascular occlusions in a patient with
Takayasu’s arteritis.
232 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Examiner: How do you define a significant difference in the blood pressure between the
arms?
Candidate: Around >10 mmHg.
Examiner: What do you mean by Takayasu’s retinopathy?
Candidate:
• Central retinal artery occlusion.
• Vascular anastomosis (arteriovenous shunts).
• Proliferative retinopathy with new vessel formation.
Examiner: What do you think is the cause of hypertension in this patient?
Candidate: Renovascular hypertension secondary to renal artery stenosis.
Examiner: What complications are patients with Takayasu’s arteritis at risk of?
Candidate:
• Renovascular hypertension.
• Stroke.
• Myocardial infarction.
• Intracranial haemorrhage.
• Limb ischaemia.
• Retinal ischaemia.
• Aortic regurgitation.
Examiner: How would you manage this patient?
Candidate:
Investigations:
• ESR and CRP.
• MRA/fluorodeoxyglucose (FDG)-positron emission tomography (PET) scans have
replaced the gold standard arteriography for the diagnosis of Takayasu’s disease, as it
can also assess disease activity (Figure 6.28).
• Angiography.
• Monitoring and treating hypertension.
• Ophthalmologic referral and follow-up.
• Echocardiography.
Treatment: Steroids, methotrexate, anti-TNF therapy, and/or surgical treatment.
Pregnancy risk: Increases risk of hypertension complications, maternal, and foetal mortality.

Marfan’s syndrome
Common instructions

•• This gentleman complains of chest pain. Please perform a general physical

examination and proceed accordingly.
•• This gentleman complains of poor vision in the right eye. Please perform a general
physical examination and proceed accordingly.
 Marfan’s syndrome 233

Common pitfalls
• Failure to spot the features of Marfan’s syndrome.
• Failure to correlate the poor vision to lens dislocation.
• Failure to recognise features of Marfan’s syndrome in a patient with AR.

How to examine a patient with suspected Marfan’s syndrome?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Inspect the patient for a tall stature and long arms and fingers.
• Measure the arm span and the height and take the ratio.
• Test for arachnodactyly: Check the wrist sign and the thumb sign (Figures 6.29 and 6.30).
• Check for hypermobility of the joints by asking the patient to extend his wrists or
fingers to the maximum he/she can.
• Examine the eyes for a dislocated lens (ectopia lentis).
• Examine the mouth for high-arched palate and crowding of the teeth (Figure 6.31).
• Inform the examiner that you would like to:
–– Examine the heart for evidence of AR and mitral valve prolapse.
–– Inspect the chest for pectus excavatum/kyphoscoliosis.
–– Examine the hernia orifices for inguinal hernia.

The typical presentation of the findings

This gentleman appears tall. He has a high-arched palate. He has positive wrist and
thumb signs. He has increased arm to height span ratio. He has joint hypermobility. His
chest examination showed pectus excavatum. His eye examination showed a subluxated
lens. These features are consistent with the diagnosis of Marfan’s syndrome. I would like
to complete my examination by performing cardiovascular system examination and
inspect the inguinal area for evidence of a hernia.
Examiner: What are the causes of chest pain in this patient with Marfan’s syndrome?
Candidate:
• Aortic dissection.
• Spontaneous pneumothorax.
Examiner: Why does this patient have a poor vision in the right eye?
Candidate: This is most likely a result of ectopia lentis (subluxated lens). Ectopia lentis
occurs in about 60% of cases and may result in poor vision or uniocular diplopia. The
dislocation is typically upward.
Examiner: Can you name two differential diagnoses of Marfan’s syndrome?
Candidate:
• Homocystinuria.
• Ehlers–Danlos syndrome.
Examiner: How can you differentiate Marfan’s syndrome from homocystinuria?
Candidate:
• Inheritance: Marfan’s – autosomal dominant and homocystinuria – autosomal
recessive.
• Mental retardation: In homocystinuria, not in Marfan.
234 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Figure 6.29 Wrist sign in a patient with Marfan’s

syndrome.

Figure 6.30 Thumb sign in a patient with Marfan’s

syndrome.

• Lens dislocation: Marfan’s – upward lens dislocation and homocystinuria – downward.

• Cardiac manifestations: Common in Marfan and rare in homocystinuria.
• Recurrent thromboembolism: Common in homocystinuria.
Examiner: What is the mode of inheritance in Marfan’s syndrome?
Candidate: Autosomal dominant occurring in 1 in 5,000. The basic abnormality in
Marfan’s syndrome is a mutation in the Fibrillin-1 gene located on chromosome 15.
Fibrillin-1 protein is an essential component of connective tissue.
 Ehlers–Danlos syndrome 235

Examiner: What are the cardiac manifestations of Marfan’s syndrome?

Candidate:
• Mitral valve prolapse and/or mitral regurgitation (MR).
• Dilatation of the ascending aorta, which may lead to AR.
• Aortic dissection.
Examiner: What is the most common cause of sudden death in Marfan’s syndrome
patients?
Candidate: Aortic dissection.
Examiner: What are the skeletal abnormalities associated with Marfan’s syndrome?
Candidate:
• An increased arm span (arm to height ratio that is >1).
• Thumb (Steinberg) sign (i.e. the thumb extends beyond the ulnar border of the hand
when the digit is held flexed in the palm (Figure 6.30).
• Wrist sign (thumb and index fingers overlap when encircling the wrist) (Figure 6.29).
• Pectus carinatum (refer Figure 2.4: Part 2).
• Pectus excavatum (refer Figure 2.3: Part 2).
• Incisional hernias.
• Scoliosis.
• Joint hypermobility.
• High-arched palate (Figure 6.31).
• Dental crowding.
Examiner: How would you manage this patient?
Candidate:
• Regular ophthalmologic follow-up.
• Regular cardiologic follow-up.
• Echocardiography or MRI of the thoracic and abdominal aorta at diagnosis and then
annually.
• Control blood pressure.
• Elective replacement of the aortic root when there is dilatation or a family history of
dissection.
• Pregnancy is risky in women with Marfan’s syndrome (risk of dissection).

Ehlers–Danlos syndrome
Common instructions

•• This gentleman has easy bruising and frequent joint dislocations. Please examine his
hand joints and proceed accordingly.

Common pitfalls
• Failure to perform a proper examination of a patient with Ehler–Danlos syndrome (EDS).
236 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Figure 6.31 High arched palate in a patient with

Marfan’s syndrome.

The typical presentation of the findings

This young gentleman has clinical evidence of joint hypermobility and skin
hyperextensibility. He has paper-thin scars and multiple skin bruises. The most likely
diagnosis is EDS. I would like to examine his cardiovascular system and the hernial
orifices and ask about family history.

How to examine a patient with EDS?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Inspect the patient for:
–– Tall stature
–– Arachnodactyly with an increased arm to height span ratio.
• Examine the joints for hypermobility (Beighton score):
–– Can you bend your thumb back to touch your forearm?
–– Can you bend your little finger up to 90°?
–– Can you bend forward and put your palms flat on the floor without bending your
knees?
–– Can you bend your elbows backward (>10°)?
–– Can you bend your knee backward (>10°)?
• Examine the skin for:
–– Skin hyperextensibility (ability to stretch the skin of neck or forearm >4 cm) .
–– Bruises.
–– Scars (‘paper-thin’ scars).
–– Molluscum pseudotumours.
–– Subcutaneous spheroids.
• Tell the examiner that you would like to examine the:
–– Cardiovascular system for AR.
–– Examine the hernial orifices for the presence of a hernia.
–– Ask about family history.
Examiner: Which types of EDS are the most common?
Candidate:
• The classic EDS
• The hypermobile EDS.
 Paget’s disease of the bone 237

Examiner: Which type of EDS is the most serious?

Candidate: The vascular EDS, because it can lead to a sudden and spontaneous vascular
or visceral rupture (such as colonic or uterine rupture).
Examiner: Can you name some other conditions that cause hypermobility?
Candidate:
• Ehlers–Danlos syndrome.
• Marfan’s syndrome.
• Osteogenesis imperfecta.
• Pseudoxanthoma elasticum.
Examiner: What are the three main characteristics of EDS?
Candidate:
• Joint hypermobility.
• Skin hyperextensibility.
• Tissue fragility.
Examiner: How is EDS inherited?
Candidate: The EDS is inherited as either autosomal dominant or autosomal recessive. EDS
is a group of disorders caused by mutations in different genes such as the COL5A1 or COL5A2
gene and results in abnormal collagen production. Collagen is an important constituent of
connective tissues supporting the skin, bones, blood vessels, and many other tissues.
Examiner: How would you manage this patient?
Candidate:
• Diagnosis is mainly a clinical one.
• Genetic testing.
• Patient and family counselling.
• There is no cure for EDS.
• Physiotherapy to strengthen the muscles, stabilise joints, and avoid dislocations.
• Avoid risky sports.
• Minimise unnecessary surgeries and anaesthesia.

Paget’s disease of the bone

Common instructions

•• This gentleman complains of hearing difficulty. Please perform a general physical

examination and proceed accordingly.
•• This gentleman complains of generalised body aches. Please examine his legs and
proceed to other relevant examination.

Common pitfalls
• Failure to spot the morphologic features of Paget’s diseas.
• Failure to spot the bowing of the legs when candidates are asked to examine the legs
(Figure 6.32).
238 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

The typical presentation of the findings

This gentleman has a large skull, frontal bossing, and overgrowth of the maxillary bones.
He is using hearing aids. His pulse is of a large volume and collapsing. He has bowing of
the tibia. The most likely diagnosis is Paget’s disease of the bone complicated by deafness.
I would like to examine his cardiovascular system and ask him about the increase in his
hat size.

How to examine a case of Paget’s disease?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Inspect the skull and head for:
–– Characteristic large skull
–– Frontal bossing
–– Leontiasis ossea: Lion-like face (resulting from the overgrowth of facial bones)
–– Presence of hearing aids
• Observe for any cranial nerve palsy.
• Inspect the tibia for deformities and bowing (Figure 6.32)
• Feel the tibia or any deformed bone for increased warmth due to increased blood flow.
Note that the affected bones in these patients are usually tender so make sure that you
do not cause pain to the patient.
• Examine the pulse for a water hammer pulse (collapsing character). Be careful not to
cause pain.

Figure 6.32 Bowing of the legs in a patient with

Paget’s disease of the bone.
 Paget’s disease of the bone 239

• Inform the examiner that you would like to examine the heart and ask the patient about
an increase in hat size.
Examiner: What is the pathophysiologic mechanism underlying Paget’s disease?
Candidate: The aetiology of Paget’s disease is unknown. Individuals from the same
family may be affected. The disease begins with focal areas of osteoclast-induced bone
resorption that is followed by osteoblast-induced abnormal bone formation. The newly
formed bones are less well organised than normal. This leads to enlarged affected bones
and skeletal deformity, particularly in weight-bearing bones.
Examiner: How common is Paget’s disease?
Candidate: Paget’s disease is common in Europe, North America, Australia, and New
Zealand. The disease may affect up to 2–4% of the population older than 50 years and the
prevalence increases with age in these countries.
Examiner: Which bones are commonly affected in Paget’s disease?
Candidate: Pelvic bones, vertebrae, skull, femur, and tibia are the most commonly
affected.
Examiner: Why does this patient have bone pain and aches?
Candidates: The causes of bone pain in patients with Paget’s disease include:
• Overgrowth of the affected bones.
• Fractures (fissure fractures of the bowed bones).
• Nerve compression because of bone overgrowth.
• Osteosarcoma.
Examiner: What are the complications of Paget’s disease?
Candidate: The complications of Paget’s disease result from new bone formation and
include:
• Hearing loss.
• Spinal stenosis: Paraplaegia and quadriplaegia.
• Cranial nerve deficits.
• Osteoarthritis.
• High-output cardiac failure.
• Hypercalcaemia from immobilisation.
• Pathological fractures.
• Osteosarcoma in <1% of patients.
Examiner: Which type of hearing loss occurs in Paget’s disease?
Candidate: Hearing loss is common in patients with Paget’s disease occurring in up to
half of these patients. The deafness in Paget’s disease can be conductive, if the middle-
ear ossicles are involved by the disease or sensorineural, if the auditory nerve gets
compressed by the enlarged petrous bone or it may be mixed.
Examiner: How would you manage this patient?
Candidate:
• Serum ALP: Very sensitive marker, levels are usually very high and correlate with the
disease activity.
• Plain X-ray of the involved bones: Will show osteolytic and osteosclerotic changes.
Characteristic cotton wool appearance may be seen on skull X-ray.
• Radionuclide scans of the bones.
240 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

• Bisphosphonates are the best and the mainstay treatment: The drug of choice is
zoledronate (single 5-mg dose IV). They are also used to treat complications of
Paget’s disease such as hearing loss, heart failure, and paraplaegia from spinal cord
involvement.
Examiner: What is the best treatment for paraplaegia caused by spinal cord compression
from Paget’s disease?
Candidate: The best treatment is a bisphosphonate.
Examiner: What is the mechanism of action of bisphosphonate?
Candidate: Bisphosphonates inhibit osteoclast activity. They have a high affinity for
the bones and can remain in the bones for years. They get incorporated into osteoclasts
and inhibit the enzyme farnesyl pyrophosphate synthase responsible for maintaining
osteoclast structure. This results in osteoclast death and apoptosis.
Examiner: What is the characteristic abnormality you may see in the fundus of this
patient?
Candidate: Paget’s disease can cause angioid streaks in the retina. These are multiple
irregular lines radiating around the optic disc. Besides, optic atrophy from compression of
the optic nerve may rarely be seen.

Henoch–Schönlein purpura
Common instructions

•• This lady complains of abdominal pain. Please examine her lower limbs and proceed
to relevant examination.

Common pitfalls
• Candidates are unable to differentiate vasculitic from thrombocytopaenic purpura.

The typical presentation of the findings

This pleasant lady has a palpable purpuric rash distributed over the lower extremities
and buttocks. The rash is symmetrical and does not blanch with pressure. Abdominal
examination revealed mild epigastric tenderness. The joint examination is unremarkable.
The most likely diagnosis is Henoch–Schönlein (HS) purpura. I would like to complete my
examination by measuring the blood pressure and performing a urine dipstick.

How to examine a case of Henoch–Schönlein purpura?

• Wash your hands.
• Introduce yourself to the patient, obtain permission for examination.
• Ask the patient if he/she has a leg or joint pain before starting the examination.
• Make quick surveillance of the patient and surroundings. Look for steroid infusions,
intravenous (IV) immunoglobulin, or dialysis machine.
 Henoch–Schönlein purpura 241

• Look for the typical vasculitic rash. The rash is elevated (unlike thrombocytopaenic
purpura). Initially, it is red then becomes purple and lastly rusty before fading. The
typical distribution of the rash is over the legs and buttocks particularly the extensor
surfaces (Figure 6.33).
• Look for the site of skin biopsy and swelling of the knee or ankle joints.
• Observe for the presence of livedo reticularis (refer Figure 5.12: Part 5) that may point
to another diagnosis such as polyarteritis nodosa or SLE.
• Press over the rash to confirm that it does not blanch with pressure and confirm that
the rash is elevated above the normal skin.
• Examine the knee and ankle joints.
• Inform the examiner that you would like to examine the abdomen, check the blood
pressure, and perform a urine dipstick.
Examiner: What are the causes of abdominal pain in HS purpura?
Candidate:
• Intestinal oedema.
• GIT haemorrhage.
• Bowl ischaemia.
• Intussusception.
Examiner: Which type of vasculitis is HS purpura?
Candidate: Immune complex-mediated, leucocytoclastic vasculitis affecting small
vessels with dominant IgA deposits (IgA deposition is diagnostic).
Examiner: Why is it called leucocytoclastic?
Candidate: Because there is a deposition of neutrophils in the small blood vessels.
Examiner: What is the main feature that differentiates HS purpura from other
leucocytoclastic vasculitides?
Candidate: IgA deposition in the small vessels.
Examiner: What other causes of leucocytoclastic small vessel vasculitis do you know?

Figure 6.33 Henoch–Schönlein purpura (observe the

distribution of the rash over the legs and the extensor
surfaces).
242 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Candidate:
• Henoch–Schönlein purpura.
• Essential mixed cryoglobulinaemia.
• Drug-induced vasculitis.
• Infections: Streptococcus, hepatitis B, C, HIV, and endocarditis.
• Connective tissue diseases: SLE and RA.
• Malignancy.
Examiner: Which malignancies may be associated with HS purpura?
Candidate:
• Non-small cell lung cancer.
• Multiple myeloma.
• Prostate.
• Non-Hodgkin’s lymphoma.
Examiner: What is the classic presentation of HS purpura?
Candidate: Palpable purpura, abdominal pain, and joint pain.
Examiner: What factors predict the development of long-term renal disease (ESRD) in HS
purpura?
Candidate:
• Baseline renal function impairment.
• Baseline proteinuria >1 or 1.5 g/day.
• Degree of interstitial fibrosis, sclerotic glomeruli, and fibrinoid necrosis on renal biopsy.
Examiner: What are the complications of HS purpura?
Candidate:
• Glomerulonephritis.
• Gastrointestinal haemorrhage.
• Bowl ischaemia.
• Intussusception.
• Duodenal obstruction.
• Orchitis.
• Testicular torsion.
• Central nervous system (CNS) involvement: Seizure and ataxia.
• Pulmonary haemorrhage.
Examiner: How would you diagnose HS purpura?
Candidate:
• Mainly by the classic clinical picture.
• Skin biopsy: Characteristic leucocytoclastic vasculitis and deposition of IgA are
diagnostic of HS purpura.
• Elevated serum IgA level.
• Complete blood cell count.
• Urine microscopy.
• Kidney function test.
• Erythrocyte sedimentation rate or C-reactive protein level.
• Urinalysis.
• Blood chemistry panel, with careful assessment of kidney function.
 Dermatomyositis 243

• ANCA [cytoplasmic ANCA (cANCA), perinuclear ANCA (pANCA), atypical ANCA] and
rheumatoid factor.
Examiner: What are the indications of systemic corticosteroids in HS purpura?
Candidate:
• Significant arthritis.
• Severe abdominal pain.
• Renal involvement (even early stages).
• Pulmonary haemorrhage.

Dermatomyositis
Common instructions

•• This gentleman complains of difficulty in climbing stairs and combing his hair. Please
examine the hands and proceed with relevant examination.
•• This heavy smoker gentleman complains of fatigue and body pain. Please examine
his hands and proceed with relevant examination.
•• This gentleman complains of swallowing difficulty. Please inspect his face and
proceed to relevant examination.

Common pitfalls
• Candidates may mistake the skin rash over the dorsum of the hands for psoriasis.
• Failure to spot the heliotrope rash, V-sign, and shawl sign.
• Candidates forget the association between dermatomyositis and malignancies.

The typical presentation of the findings

This gentleman has a heliotrope rash and periorbital oedema. He has a V-sign and shawl
sign as well as Gottron nodules over the dorsum of the hands. The hands are fissured,
cracked, and rough resembling a mechanic’s hand. He has evidence of proximal
myopathy. I would like to complete my examination by examining other systems such as
lungs and abdomen to look for neoplasms and ILD.

How to examine a case of dermatomyositis?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Inspect the patient’s face and neck for:
–– Heliotrope or lilac/violaceous rash around the eyes.
–– Periorbital oedema (make sure you do not miss Cushing’s appearance from steroid
use).
–– Red or purple rashes over the cheeks.
–– Shawl sign (shawl sign is a reddish rash over the area that is usually covered by
shawl – upper back, shoulders, and back of the neck) (Figure 6.23).
–– V-sign (a similar rash that appears over the anterior chest in a V-shaped pattern)
(Figure 6.22).
244 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

–– A scaly rash over the scalp.

–– Pay attention to the presence of associated Cushingoid appearance secondary to
steroid use.
• Examine the dorsum of the hands for:
–– Gottron papules (over the MCP and interphalangeal joints) (Figure 6.18).
–– Nails for periungual erythema, telangiectasia, or capillary loops (Figure 6.18).
–– Mechanic’s hand: Fissured, cracked, and roughened hands resembling those of
manual labourers.
• Examine for proximal myopathy.
• Inform the examiner that you would like to ask the patient about dysphagia, muscle
pain, and examine the chest and abdomen for signs of malignancy and ILD.
Examiner: What systemic manifestations of dermatomyositis do you know?
Candidate:
• Cardiomyopathy.
• Interstitial lung disease.
• Respiratory muscle weakness.
• Association with malignancies.
• Association with other connective tissue diseases.
• Cutaneous calcification (usually in children).
Examiner: How relevant is the history of smoking in this case?
Candidate: Dermatomyositis can occur in association with malignancies particularly
in adult type dermatomyositis. The risk of cancer increases 6-fold in patients with
dermatomyositis. Cancer may manifest before, during, or after the development of
dermatomyositis. The greatest risk exists in the 1st year after the diagnosis of polymyositis
and persists until 3–5 years. Patients with newly diagnosed dermatomyositis should be
screened for the presence of malignancy at diagnosis with regular screening up to 3–5 years.
Examiner: Which malignancies might be associated with dermatomyositis?
Candidate:
• Ovarian/cervical.
• Lung.
• Breast.
• Lymphoma.
• Stomach.
Examiner: How do you investigate this patient?
Candidate:
• Serum CPK, aldolase, and ESR.
• Antinuclear antibodies (ANA), anti-Jo-1 (most specific), anti-dsDNA, RF, and anti-
SCL70.
• Chest X-ray/CT scans of chest, abdomen, and pelvis to look for underlying malignancy.
• Tumour markers.
• Skin biopsy and/or muscle biopsy.
• Lung function testing.
Examiner: How would you treat this patient?
 Hereditary haemorrhagic telangiectasia (Osler–Weber–Rendu disease) 245

Candidate:
• Protection from the sun (avoidance of direct sun exposure, using sunscreens, creams,
clothes, etc.).
• Systemic steroids.
• Immunosuppressant drugs such as methotrexate, mycophenolate, and azathioprine.
• Rituximab.
• IV immunoglobulin.

Hereditary haemorrhagic
telangiectasia (Osler–Weber–Rendu
disease)
Common instructions

•• This lady complains of fatigue. Please perform a general physical examination.

•• This lady found to have a haemoglobin level of 8 g/dL. Please perform a general
physical examination.

Common pitfalls
• Failure to spot the presence of telangiectasia in the mouth or on the face.
• Mistaking telangiectasia for other unrelated lesions.
• Failure to recognise coexisting anaemia.

The typical presentation of the findings

This pleasant lady appears pale. She has multiple telangiectasias over the face and
the ventral aspect of the tongue. The most likely diagnosis is hereditary haemorrhagic
telangiectasia (HHT). I would like to ask about family history and check pulse oximetry.

How to examine a patient with suspected HHT?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Inspect the patient’s face and mouth for telangiectasia (look also under the tongue)
(Figure 6.34).
• Check for pallor.
• Inform the examiner that you would like to enquire about family history and check for
oxygen saturation via pulse oximeter.
Examiner: What is the mode of inheritance in HHT?
Candidate: Autosomal dominant.
246 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Examiner: What question would you like to ask this patient to confirm your diagnosis?
Candidate: Family history of HHT, epistaxis, or bleeding.
Examiner: Which organs can be involved in HHT?
Candidate:
• Nasopharynx: Recurrent epistaxis.
• Skin: Telangiectasia.
• Liver and lungs: Arteriovenous malformations (AVMs).
• Gastrointestinal: Gastrointestinal tract (GIT) bleeding.
• CNS: Arteriovenous malformations.
Examiner: What serious complications are patients with HHT at risk of?
Candidate:
• Brain abscess from right to left pulmonary shunting.
• Haemorrhagic or ischaemic stroke.
• High-output congestive heart failure.
• Chronic GIT bleeding and anaemia.
• Portal hypertension with oesophageal varices.
• Pulmonary haemorrhage.
• Right to left shunt.
• Pulmonary hypertension.
• Liver cirrhosis.
• Retinal telangiectasia.
Examiner: Is screening for cerebral AVMs recommended in these patients?
Candidate: This remains a controversial issue. Although cerebral AVM can develop in
patients with HHT, intracerebral bleeding is rare and finding an AVM does not necessarily
require intervention in most cases. Screening may be considered, if there is a family
history of a cerebral haemorrhage.
Examiner: How would you manage this patient?
Candidate:
• CBC and clotting profile.
• Liver function.
• Pulse oximetry (standing and supine).
• Chest X-ray.

Figure 6.34 Hereditary haemorrhagic telangiectasia

(observe the telangiectasia over the face and tongue).
 Neurofibromatosis type I (von Recklinghausen's disease) 247

• MRI of the lungs.

• Upper and lower GIT endoscopy.
• Treatment: Cauterisation, sclerotherapy, laser treatment, oestrogen therapy, or
embolisation.
• Family counselling and screening.

Neurofibromatosis type I
(von Recklinghausen's disease)
Common instructions

•• This gentleman has a resistant hypertension. Please perform a general physical

examination and proceed accordingly.
•• This gentleman complains of recurrent episodes of headache. Please perform a
general physical examination and proceed to other relevant examination.

Common pitfalls
• Missing the diagnosis (particularly when there are multiple large neurofibromas or a
large plexiform neurofibroma in the skin some candidates may diagnose it as multiple
skin warts or tumours).
• Poor examination techniques.
• Candidates do not know the causes of hypertension in patients with neurofibromatosis.

The typical presentation of the findings

This gentleman has multiple café-au-lait lesions and multiple neurofibromas. His axillae
showed multiple freckling. There are no Lisch nodules in the iris by direct inspection
(better seen by slit-lamp examination). The hearing examination is normal. This
gentleman has neurofibromatosis. I would like to complete my examination by measuring
his blood pressure and ask about family history.

How to examine a patient with suspected neurofibromatosis?

• Wash your hands.
• Introduce yourself to the patient and obtain permission.
• Inspect the skin of the patient particularly the back for the presence of:
–– Multiple neurofibromas (Figure 6.35).
–– Plexiform neurofibroma (usually large and pedunculated mass)
–– Café-au-lait lesions (Figure 6.36)
• Inspect the axilla for axillary freckling (small hyperpigmented macules that look like
café-au-lait spots but are much smaller in size and present in groups) (Figure 6.37).
• Inspect the iris for Lisch nodules (iris hamartomas). They usually require a slit-lamp to
be visualised.
• Examine the hearing.
• Inform the examiner that you would like to measure the blood pressure and ask about
family history.
248 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

• Note: Neurofibromatosis type 1 (von Recklinghausen’s disease) is the one that is seen in
clinical examinations.
Examiner: How do you explain hypertension in this patient?
Candidate:
• Associated pheochromocytoma.
• Associated renal artery stenosis.
• Essential hypertension is common in these patients.
• Coarctation of the aorta.
Examiner: Why do you think this patient has a headache?

Figure 6.35 Multiple neurofibromas in a patient with

neurofibromatosis.

Figure 6.36 Café-au-lait lesions in a patient with

neurofibromatosis.
 Neurofibromatosis type I (von Recklinghausen's disease) 249

Figure 6.37 Axillary freckling in a patient with

neurofibromatosis.

Candidate:
• Brain tumours.
• Hypertension.
• Pheochromocytoma.
Examiner: What are the diagnostic criteria for neurofibromatosis type 1 (how many
lesions are required for the diagnosis)?
Candidate: Two or more of the following criteria in the absence of another diagnosis:
• Six or more café-au-lait macules >5 mm in the greatest diameter in pre-pubertal
individuals and >15 mm in the greatest diameter in post-pubertal individuals.
• Two or more neurofibromas of any type or one plexiform neurofibroma.
• Freckling in the axillary or inguinal regions.
• Optic glioma.
• Two or more Lisch nodules (iris hamartomas).
• A distinctive osseous lesion such as sphenoid dysplasia or tibial pseudarthrosis.
• A first-degree relative with type-1 neurofibromatosis.
Examiner: What is the mode of inheritance of type 1 neurofibromatosis?
Candidate: Autosomal dominant.
Examiner: What is the prognosis and cause of mortality in patients with type 1
neurofibromatosis?
250 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Candidate: Life expectancy is reduced by 15 years in these patients. The most common cause
of death in these patients is malignant peripheral nerve sheath tumours and vasculopathy.
Examiner: What do you mean by neurofibromatosis vasculopathy?
Candidate: Patients with neurofibromatosis are at risk of various vascular problems
such as:
• Hypertension.
• Arterial stenosis.
• Arterial aneurysm formation.
• Moyamoya (small vessels form around the stenotic area giving the appearance of a
‘puff of smoke’).
Examiner: What other serious complications of type 1 neurofibromatosis do you know?
Candidate:
• Optic nerve glioma, which may lead to progressive visual loss.
• CNS tumours.
Examiner: How does type 2 neurofibromatosis differ from type 1?
Candidate: Type 2 is a central type with more involvement of the CNS by tumours and fewer
skin manifestations. Bilateral or unilateral acoustic neuromas are characteristic of this type.
Examiner: How would you manage this patient?
Candidate:
• Genetic counselling.
• Regular monitoring of the blood pressure.
• 24-hour urine for catecholamines.
• MRI of the brain and optic nerves.
• Surgery for the skin lesions.

Diabetic foot, neuropathy, and

arthropathy
Common instructions

•• This gentleman complains of paraesthesia in his legs. Please perform examination of

his legs.

Common pitfalls
• Failure to examine the pulses and reflexes in the diabetic leg.
• Failure to diagnose Charcot’s joint.

The typical presentation of the findings

Candidate 1: This gentleman has diabetic dermopathy, shiny and cold skin with loss of hair.
There is amputation of left fourth and fifth toes. Dorsalis pedis pulse is weak in both feet.
 Diabetic foot, neuropathy, and arthropathy 251

There is a loss of ankle reflexes. Sensory examination revealed a loss of pain, touch, vibration
and temperature sensations. Power is normal. There are no leg ulcers or gangrene. The most
likely diagnosis is a diabetic foot with sensory neuropathy, vasculopathy, and dermopathy. I
would like to complete my examination by looking at his fundus and check his blood sugar.
Candidate 2: This gentleman has a diabetic dermopathy. He has swelling of his right
ankle joint that is nontender. There is a loss of pain, touch, vibration, and temperature
sensations in the feet with a loss of ankle reflexes. The dorsalis pedis pulses are weak.
The most likely diagnosis is a right Charcot’s joint secondary to diabetes (because of
the presence of diabetic dermopathy) along with diabetic neuropathy, vasculopathy,
and dermopathy. I would like to complete my examination by looking at his fundus and
checking his blood sugar level.

How to examine the diabetic leg?

• Wash your hands.
• Introduce yourself and obtain permission for examination.
• Ask for any pain in the legs before you start the examination.
• The examination is composed of three parts – inspection of the legs, examination of
the vascular system, and neurological examination of the lower limbs with particular
attention to sensation and reflexes.
• Inspection should include:
–– Presence of foot ulcers.
–– Presence of callus.
–– Diabetic dermopathy (refer Figure 2.10: Part 2).
–– Gangrene.
–– Shiny skin with loss of hair suggestive of ischaemia.
–– Muscle wasting should also be noted.
–– Amputation of the toes (Figure 6.38).
–– Joint swelling or deformities (Charcot’s joint) (Figure 6.38).
–– Particular attention should be paid to the skin between the toes for wounds and
fungal infection and the condition of the nails.

Figure 6.38 Charcot’s joint and toe amputation in a

diabetic foot.
252 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

• Palpation:
–– Feel the temperature (cold skin).
–– Feel all the pulses in the legs.
• Perform a neurological examination:
–– Examine all the sensory modalities.
–– Examine the ankle reflexes.
–– Examine the power in the feet (dorsiflexion and plantar flexion).
• Inform the examiner that you would like to perform a fundus examination and check
the urine for protein and HbA1c.
• Clinically, Charcot’s joint presents with the triad of signs of inflammation (hotness and
redness), joint swelling, and loss of sensation in the foot with no or little pain relative to
the degree of inflammation.
Examiner: What are the types of diabetic neuropathy?
Candidate:
• Distal symmetric polyneuropathy: Gloves and stocks sensory loss.
• Autonomic neuropathy: Postural hypotension and gastroparesis.
• Polyradiculopathies: Diabetic amyotrophy, thoracic or lumbar polyradiculopathy.
• Mononeuropathies: Involving either cranial nerves or peripheral nerves such as the
third and sixth cranial nerves or the median nerve.
• Mononeuropathy multiplex: Causing involvement of multiple peripheral nerves.
Examiner: Which conditions may cause similar symptoms to diabetic neuropathy?
Candidate:
• Drugs.
• Vitamin B12 deficiency.
• Alcohol.
• Chronic renal disease.
• Charcot-Marie-Tooth.
• Vasculitis.
• Heavy metal poisoning.
Examiner: Can you name a drug that is used in the treatment of orthostatic hypotension
from autonomic neuropathy?
Candidate: Midodrine.
Examiner: Which sensation is lost early in diabetic neuropathy?
Candidate: Pain and temperature due to small fibre damage followed by touch
(monofilament) and vibration due to large fibre damage.
Examiner: What are the risk factors for a diabetic foot ulcer?
Candidate:
• Poor glycaemic control.
• Peripheral neuropathy.
• Peripheral vascular disease.
• History of previous foot ulcer.
• Visual impairment.
• Chronic kidney disease.
• Smoking.
• Presence of foot deformity.
 Diabetic foot, neuropathy, and arthropathy 253

Examiner: How would you manage a patient with diabetic neuropathy and diabetic foot?
Candidate:
• Tight control of vascular risk factors (glucose, triglycerides, and blood pressure) and
stop smoking.
• Regular examination of the feet.
• Patient education about foot care.
• Avoid tight shoes and wear diabetic shoes.
• Aggressive antibiotics for a diabetic foot infection.
• Request X-ray/MRI or bone scan, if there is suspicion of osteomyelitis or Charcot
joint.
• Drugs for symptomatic relief: Pregabalin, gabapentin, duloxetine, and tricyclic
antidepressants.
• Podiatrist, vascular surgeon, and orthopaedic consult, if there are ulcers, suspected
vascular insufficiency, osteomyelitis, or Charcot’s joint.
• Corneal confocal microscopy.
Examiner: Do you know any noninvasive technique that can detect and predict the
development of diabetic neuropathy very early and monitor response to neuropathy
management?
Candidate: Corneal confocal microscopy is a noninvasive and rapid ophthalmic
technique, which can quantify small nerve fibre loss in the cornea. It may act as a
surrogate marker for early diagnosis, stratification of severity, and assessment of
therapeutic efficacy of new treatments in diabetic neuropathy.
Examiner: When should patients with diabetes undergo neuropathy assessment?
Candidate: According to the international guidelines, all patients with type 2 diabetes
mellitus at diagnosis and those with type 1 diabetes mellitus after 5 years of diabetes
should undergo an annual assessment for neuropathy.

Charcot’s Joint
Examiner: What pathophysiologic mechanism is responsible for the development of a
Charcot’s joint in diabetes?
Candidate: Charcot’s joint results from peripheral neuropathy leading to painless
recurrent trauma and injury to the joint, increased local bone resorption due to osteoclast
formation, and activation in a well-perfused foot.
Examiner: What are the causes of a Charcot’s joint?
Candidate:
• Diabetes is the most common cause (Figure 6.38).
• Leprosy.
• Syphilis (tabes dorsalis).
• Chronic alcoholism.
• Vasculitis (Figure 6.39).
• Syringomyelia.
Examiner: Which joints are commonly affected in diabetic patients with Charcot’s
arthropathy?
Candidate: Midfoot and ankle joints.
254 Part 6 Endocrine, rheumatology, connective tissue, and skin cases

Figure 6.39 Charcot’s joint in a patient with vasculitis.

Examiner: If you find a Charcot’s joint in the upper limb, which disease should you suspect?
Candidate: Syringomyelia is the most common cause of a Charcot’s joint in the upper
limbs, usually shoulder (rarely elbow).
Examiner: If you find a Charcot’s joint in the knee, what disease would you suspect?
Candidate: Tabes dorsalis.
Examiner: How would you manage a patient with a Charcot joint?
Candidate:
Investigations:
• X-ray and MRI to assess the degree of damage and to exclude osteomyelitis.
• Check HbA1c, syphilis serology, vasculitic screen, and B12 level.
Treatment:
• Off-loading the foot and avoidance of weight-bearing on the affected side as well as
joint immobilisation are the most important interventions.
• Surgery should only be considered in refractory cases with significant bone deformity
(rocker bottom foot). It may also be considered in osteomyelitis to remove infected
bones.
• Osteomyelitis should always be considered in any patient with a Charcot’s joint.
 Further reading 255

Further reading
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Hum Reprod Update 2001; 7:603–610.
Alibaz-Oner F, Aydin SZ, Direskeneli H. Advances in the diagnosis, assessment, and outcome of Takayasu’s
arteritis. Clin Rheumatol 2013; 32:541–546.
American Diabetes Association. Standards of medical care in diabetes ‘2015’. Diabetes Care 2015; 38:S1–S93.
Audemard-Verger A, Pillebout E, Guillevin L, Thervet E, Terrier B. IgA vasculitis (Henoch-Shönlein purpura) in
adults: Diagnostic and therapeutic aspects. Autoimmun Rev 2015; 14:579–585.
Bahn Chair RS, Burch HB, Cooper DS, et al. The American Thyroid Association and American Association of
Clinical Endocrinologists Taskforce on hyperthyroidism and other causes of thyrotoxicosis. Thyroid 2011;
21:593–646.
Bowen JM, Brady AF, Burrows NP, et al. The 2017 international classification of the Ehlers–Danlos syndromes.
Am J Med Genet C Semin Med Genet 2017; 175:8–26.
Dimachkie MM, Barohn RJ. Idiopathic Inflammatory Myopathies. Semin Neurol 2012; 32:227–236.
Doi M, Sugiyama T, Izumiyama H, Yoshimoto T, Hirata Y. Clinical features and management of ectopic ACTH
syndrome at a single institute in Japan. Endocr J 2010; 57:1061–1069.
Forbes A, Marie I. Gastrointestinal complications: the most frequent internal complications of systemic sclerosis.
Rheumatology 2009; 48:iii36–39.
Govani FS, Shovlin CL. Hereditary hemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet
2009; 17:860–871.
Jakubaszek M, Kwiatkowska B, Maślińska M. Polymyositis and dermatomyositis as a risk of developing cancer.
Reumatologia 2015; 53:101–105.
Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med 2010; 12:1–11.
Katznelson L, Atkinson JL, Cook DM, Ezzat SZ, Hamrahian AH, Miller KK, et al. American Association of
Clinical Endocrinologists medical guidelines for clinical practice for the diagnosis and treatment of
acromegaly-2011 update: executive summary. Endocr Pract 2011; 17:636–646.
Kowal-Bielecka O, Landewé R, Avouac J, et al. EULAR recommendations for the treatment of systemic sclerosis: a
report from the EULAR Scleroderma Trials and Research group (EUSTAR). Ann Rheum Dis 2009; 68:620–628.
National Institutes of Health Consensus Development. Conference statement: Neurofibromatosis. Arch Neurol
Chicago 1988; 45:575–578.
Nieman LK, Biller BM, Findling JW, et al. The diagnosis of Cushing’s syndrome: an Endocrine Society clinical
practice guideline. J Clin Endocrinol Metab 2008; 93:1526–1540.
Reamy BV, Williams PM, Lindsay TJ. Henoch-Schönlein purpura. Am Fam Physician 2009; 80:697–704.
Rogers L, Frykberg R, Armstrong D, et al. The Charcot foot in diabetes. Diabetes Care 2011; 34:2123–2129.
Singer FR, Bone HG 3rd, Hosking DJ, et al. Paget’s disease of bone: an endocrine society clinical practice
guideline. J Clin Endocrinol Metab 2014; 99:4408–4422.
Tavakoli M, Quattrini C, Abbott C, et al. Corneal confocal microscopy: novel noninvasive test to diagnose and
stratify the severity of human diabetic neuropathy. Diabetes Care 2010; 33:1792–1797.
The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
2014 ESC guidelines on the diagnosis and treatment of aortic diseases. Eur Heart J 2014; 35:2873–2926.
Tikly M, Makda MA. A diagnostic approach to the common arthritic conditions. SA Fam Pract 2009; 51:188–193.
Viitanen JV, Heikkilä S, Kokko ML, Kautiainen H. Clinical assessment of spinal mobility measurements in
ankylosing spondylitis: a compact set for follow-up and trials? Clin Rheumatol 2000; 19:131–137.
von Kodolitsch Y, Robinson PN. Marfan syndrome: an update of genetics, medical and surgical management.
Heart 2007; 93:755–760.
Zurada JM, Ward KM, Grossman ME. Henoch-Schönlein purpura associated with malignancy in adults. J Am
Acad Dermatol 2006; 55:S65–S70.
 Part 7
Eye and fundus cases

Eye and fundus cases in the clinical

examinations
Eye examination
Common instructions

•• This lady complains of blurring of her vision. Please examine her eyes.
•• This diabetic patient has blurry vision. Please examine her eyes.
•• This gentleman has problems with his vision. Please examine his fundus.

Important clues
• There are some causes of blurred vision in diabetic patients. When encountering a case
of a diabetic patient with a blurring of vision, many candidates suspect only diabetic
retinopathy. Candidates should keep in mind the following causes of blurred vision in a
diabetic patient:
–– Cataract.
–– Diabetic retinopathy.
–– Vitreous haemorrhage.
–– Central/branch retinal artery occlusion.
–– Central/branch retinal vein occlusion.
–– Retinal detachment (unlikely to be seen in internal medicine examinations).

How to examine the eyes?

• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Start by general inspection of the patient and the eyes for:
–– Redness.
–– Ptosis.
–– Squint.
• Visual acuity:
–– In case your patient uses glasses, ask him/her to put on the glasses.
–– Ask the patient if he/she can see your face clearly.
–– Now, test the visual acuity in each eye separately.
–– It is advised that candidates keep a Snellen eye chart otherwise; they can test visual
acuity by asking the patient to read some words on a paper or in the room. (Tell the
examiner that you normally use a Snellen eye chart).
258 Part 7 Eye and fundus cases

• Pupils: Size – light reflex – accommodation reflex.

• Visual field examination (confrontation test):
–– Sit at the same level as the patient facing him/her and keep one arm length
distance apart.
–– Explain the test to the patient and instruct him/her to keep looking at your eyes/
nose when you are moving the finger/object.
–– Start first by testing for visual inattention (visual neglect) while both eyes of the
patient are open. Stretch both of your arms at a horizontal level and move right
finger first, then left finger and then both fingers together. Patients with visual
inattention tend to see normally if each eye is tested separately. However, if both
eyes are open and both fingers are moving, they tend to ignore the moving object
near the affected eye and will see only the one near the normal eye.
–– Test the visual field in each eye separately in all four quadrants. Start by bringing your
finger from outer to the inner direction and compare the visual filed with yours.
–– It is recommended that candidates use a white pin or stick to test for visual field, as
it can get subtle changes in the visual field (better than using a finger).
–– Testing for blind spot (scotoma): Blind spot is an obscuration of the visual field
resulting from the absence of photoreceptor cells on the part of the retina that
contains the optic disc (where the optic nerve exits through the optic disc).
Use a red pin to detect the blind spot as the central part of the visual field is
more sensitive to the red light. Ask the patient to close one eye and you close
your opposite eye. While the patient is looking into your eye, move the red pin
horizontally from the level of the nose towards the temporal side slowly. Ask the
patient to inform you when the red pin suddenly disappears. This is the blind spot
of the patient. It is typically found 15° to the left of your left eye and 15° to the right
of your right eye. You need to compare the blind spot of the patient to yours.
–– Blind spot is enlarged when there is optic nerve disease such as optic neuritis and
papilloedema.
• Eye movements: While testing for eye movements, observe three things—
–– Presence of ophthalmoplaegia.
–– Presence of diplopia (ask the patient to inform you if he/she sees double at any
time while testing eye movements).
–– Pain while moving the eyes (may suggest optic neuritis).
• Fundoscopy:
–– See how to perform the fundus examination below.
Common eye problems (other than fundus cases) in internal medicine clinical
examinations:
• Visual field abnormalities (Figure 7.1):
–– Homonymous haemianopia/quadrantanopia.
–– Bitemporal haemianopia.
–– Quadrantanopia.
• Optic neuritis.
• Holmes–Adie pupil (Figure 7.2).
• Argyll–Robertson pupil (See neurological cases – Tabes dorsalis).
• Horner’s syndrome (See neurological cases).
• Cataract (blurring of vision in a diabetic patient).
• Anterior uveitis.
 Eye and fundus cases in the clinical examinations 259

L R Level Left Right

1 Loss of vision in right eye

2 Bitemporal haemianopia
1- Optic nerve

2- Optic chiasma 3 Left homonymous haemianopia

3- Optic tract
4 Left lower quadrananopia
4- Upper fibres of
optic radiation
5 Left upper quadrantanopia
5- Lower fibres of
optic radiation
6- Occipital cortex Left homonymous haemianopia
6
sparing macula

Figure 7.1 Different visual defects.

Figure 7.2 Holmes–Adie pupil (observe the dilated

right pupil).

Visual field abnormalities

Homonymous haemianopia
• Is a visual field defect involving either the two right or the two left halves of the visual
fields of both eyes (Figure 7.1).
• Where is the lesion?
–– Optic tract.
–– Lateral geniculate body.
–– Optic radiation.
–– Occipital cortex (with macular sparing).
• Causes:
–– Stroke (infarction or haemorrhage).
–– Cerebral tumours.
–– Demyelinating lesion.
–– Encephalitis.
Homonymous quadrantanopia
• It is a visual field defect in the upper or lower quadrants of the visual field (Figure 7.1).
• Where is the lesion?
–– Upper homonymous quadrantanopia: The lesion is in the lower fibres of the optic
radiation (temporal lobe).
260 Part 7 Eye and fundus cases

–– Lower homonymous quadrantanopia: The lesion is in the upper fibres of the optic
radiation (parietal lobe).
• Causes: Same as the causes of homonymous haemianopia.
Bitemporal haemianopia
• It is a visual field defect involving the temporal fields (Figure 7.1).
• Where is the lesion?
–– Optic chiasm
• Causes:
–– A pituitary tumour (usually macroadenoma >10 mm) is the most common and
should be mentioned first.
–– Craniopharyngioma.
–– Meningioma.
–– Aneurysms of the anterior communicating artery.
Bitemporal quadrantanopia
• It is a visual defect involving a quadrant in the temporal lobes (Figure 7.1).
• Where is the lesion?
–– Optic chiasm.
• Causes:
–– Same as the causes of bitemporal quadrantanopia.
Examiner: How would you manage a patient with a visual field defect?
Candidate:
• Perform formal visual field charting.
• If the case is temporal haemianopia, perform a pituitary work-up including:
–– MRI pituitary.
–– Hormonal assay: Prolactin, follicle-stimulating hormone (FSH), luteinising
hormone (LH), adrenocorticotropic hormone (ACTH), thyroid-stimulating
hormone (TSH), growth hormone (GH), and insulin-like growth factor 1 (IGF-1).
–– Neurosurgical consult for transsphenoidal surgery.
–– Prolactinomas or prolactin-secreting macroadenomas respond to dopamine
agonists such as bromocriptine and cabergoline.
–– If the case is homonymous haemianopia, a work-up for stroke and brain
neoplasms should be performed.
–– Advise the patient regarding driving.

Optic neuritis
Common instruction

•• This 30-year-old lady complains of deterioration of her right eye vision since 5 days.
Please perform an eye examination to determine the cause.

Common pitfalls
• Candidates do not consider optic neuritis as the most likely cause of sudden visual loss
in young women.
• Candidates forget multiple sclerosis as an important cause of optic neuritis.
 Eye and fundus cases in the clinical examinations 261

The typical presentation of the findings

This pleasant lady has markedly reduced visual acuity of the right eye with absent
pupillary light reflex and a ‘Marcus Gunn pupil’. Visual field examination revealed total
anopia in the right eye (Figure 7.1) and fundoscopic examination revealed swollen optic
disc. Her eye movements are preserved but painful. The most likely diagnosis is acute
optic neuritis in the right eye. I would like to ask about other symptoms suggestive of
multiple sclerosis.
Examiner: What are the causes of optic neuritis?
Candidate:
• The most common cause of non-idiopathic optic neuritis is multiple sclerosis.
• Idiopathic.
• Neuromyelitis optica.
• Systemic lupus erythematosus (SLE), Sjögren’s syndrome, and Behçet’s disease.
• Sarcoidosis.
• Viral infections.
Examiner: What is the difference between optic neuritis in multiple sclerosis and
neuromyelitis optica?
Candidate: In neuromyelitis optica, the optic neuritis is bilateral and more severe.
Examiner: What is the characteristic pupillary defect in optic neuritis and how do you test
for that?
Candidate: In optic neuritis, we characteristically see ‘Marcus Gunn pupil’ (afferent
pupillary defect). When we shine a light on the unaffected eye, both pupils will constrict.
When we shine a light on the affected eye, both pupils dilate. This means that the efferent
pathway of the light reflex of the affected eye is working normally but the afferent (optic
nerve) is not.
Examiner: What is the Uhthoff’s phenomenon?
Candidate: Uhthoff’s phenomenon is a phenomenon in which the loss of vision in optic
neuritis is exacerbated by heat or exercise.
Examiner: What is the difference between optic neuritis, retro-bulbar neuritis, and
papillitis?
Candidate: Both retrobulbar neuritis and papillitis are forms of optic neuritis. In
retrobulbar neuritis, the inflammation of the optic nerve is in the part of the nerve behind
the eye globe (behind the optic disc) and, therefore, the fundoscopic examination will
be normal despite the patient has a loss of vision (patient sees nothing and doctor sees
nothing). Retrobulbar neuritis is the most common form of optic neuritis and highly
suggestive of multiple sclerosis. It is commonly associated with retrobulbar eye pain
particularly when moving the eyes. In papillitis, there is a swelling of the optic disc.
Examiner: How would you manage this patient?
Candidate:
• Ophthalmic examination including the charting of the visual filed and checking for
scotoma.
• MRI brain.
• Lumbar puncture to send for the oligoclonal bands and viral panel.
• Visual evoked response.
262 Part 7 Eye and fundus cases

• Autoimmune work-up.
• Chest X-ray looking for signs of sarcoidosis.
• Intravenous pulse steroid therapy.
Examiner: What test do you need to perform, if you suspect neuromyelitis optica?
Candidate: Anti-aquaporin-4 (AQP4) antibody in the serum [not in cerebrospinal fluid
(CSF)]. It is a highly specific test for neuromyelitis optica.
Examiner: Do you know any recent medication that proved effective in neuromyelitis optica?
Candidate: Monoclonal antibodies such as—
• Inebilizumab.
• Satralizumab.
Examiner: What is the prognosis in optic neuritis?
Candidate:
• Most patients who develop optic neuritis will have a gradual improvement in their
vision.
• Some patients may develop permanent visual loss.
• The majority of females who develop idiopathic optic neuritis develop multiple
sclerosis in the future. Therefore, regular follow-up of these patients is important.

Holmes–Adie syndrome
Common instruction

•• This lady complains of photophobia and difficulty in reading. Please examine her
eyes.

Common pitfalls
• Failure to suspect Holmes–Adie syndrome when finding a unilaterally dilated pupil
(anisocoria) (Figure 7.2).
• Failure to recognise the absence/sluggish of light reflex but normal accommodation reflex.
• Candidates do not request to examine the ankle and knee reflexes and ask about
sweating abnormalities.
Examiner: What is the triad of Holmes–Adie syndrome?
Candidate: Holmes–Adie Syndrome—
• H: Hyporeactive pupil to light (tonic pupils).
• A: Absent ankle and knee reflexes.
• S: Sweating abnormalities.
Examiner: Why is Holmes–Adie pupil called ‘tonic pupil’ despite it is a dilated pupil?
Candidate: Holmes–Adie pupil is a dilated pupil (Figure 7.2) that does not react or have a
sluggish reaction to light but reacts to accommodation. Once it reacts to accommodation,
it becomes constricted and dilates very slowly. Therefore, patients may present with
difficulty in reading because of the tonic reaction to accommodation.
 Eye and fundus cases in the clinical examinations 263

Examiner: What are the causes of Holmes–Adie pupil?

Candidate:
• It results from parasympathetic denervation (ciliary ganglion).
• Most cases are idiopathic (viral/inflammation).
• It can be associated with vasculitis or orbital tumours.
Examiner: How would you manage this patient?
Candidate:
• MRI of the orbit, erythrocyte sedimentation rate (ESR) level, and antinuclear
antibodies (ANA) to exclude vasculitis or orbital tumours.
• If these tests are normal, the patient has to be reassured that the condition is benign
and improves gradually. However, loss of tendon reflexes may become permanent.
• Use pilocarpine eye drops.
• Use sunglasses.

Fundus cases in clinical examinations

How to perform a fundus examination?
• Wash your hands.
• Introduce yourself to the patient and obtain permission for examination.
• Decrease illumination in the room.
• Remove your and the patient’s glasses.
• Instruct the patient to look at a fixed distant point behind you.
• Use your right eye to examine the right fundus of the patient and your left eye for the
left fundus.
• First, find the optic disc (How? When you see the retina, look for a vessel and follow it
centrally, it will lead you to the optic disc). Check the optic disc colour, edges, and optic
cup (central pale part of the disc).
• Next, check the vessels starting at the disc: Observe that veins are larger and darker
than arteries and arteries are lighter and narrower than veins.
• Arteries have a central reflecting line – ‘silver-wire’ appearance.
• Check the sites of the crossing of arteries and veins for arteriovenous (AV) nipping.
• Check the retina for haemorrhage, microaneurysms, and exudates. To check for the
peripheral retina, you may angle the ophthalmoscope or simply ask the patient to look
in the four quadrants (up, down, left, and right) while examining the fundus.
• Check the macula by asking the patient to look directly at the light of the ophthalmoscope.
• Do not let an abnormal finding distract you from performing the complete retinal
examination systematically, as one abnormal finding might be just the tip of the
iceberg. Record all abnormal findings in your mind with their positions.

Common pitfalls during fundoscopic examination

• The improper technique of examination because of a lack of proper practice.
• Candidates get distracted by the first abnormal finding and do not perform a complete
fundoscopic examination.
• Candidates get anxious as time passes, particularly if they are not able to identify an
abnormality at the start of the examination.
264 Part 7 Eye and fundus cases

Diabetic retinopathy
Examiner: What factors determine the development of diabetic retinopathy?
Candidate:
• Poor glycaemic control.
• Duration of diabetes.
• Presence of nephropathy (usually coexists with retinopathy).
• Presence of other factors such as hypertension.
Examiner: What are the two earliest signs of diabetic retinopathy?
Candidate:
• Microaneurysms.
• Hard exudates.
Examiner: Can visual loss occur in non-proliferative diabetic retinopathy (NPDR)?
Candidate: Yes, usually due to macular oedema.
Examiner: What do you mean by the following terms?
Candidate:
• Microaneurysms: The earliest clinical sign of diabetic retinopathy. They develop
secondary to capillary wall outpouching due to pericyte loss and appear as small red
dots in the superficial retinal layers.
• Dot and blot haemorrhages: Occur as a result of microaneurysmal rupture. They may
appear to be small, if they are located in the inner nuclear and outer plexiform layers
• Flame-shaped haemorrhages: Larger haemorrhages than dots and blots that occur in
the superficial nerve fibre layer.
• Hard exudates: Caused by leakage of proteinaceous material and lipids from the
vessels.
• Cotton-wool spots: Represent ischaemia and infarction of the nerve fibre layer from the
occlusion of precapillary arterioles.
Examiner: How is diabetic retinopathy classified?
Candidate:
Non-proliferative diabetic retinopathy (Figure 7.3):
• Mild: At least one microaneurysm.
• Moderate: Haemorrhages, microaneurysms, and hard exudates.
• Severe: Haemorrhages and microaneurysms in four quadrants or venous beading
in at least two quadrants or intraretinal microvascular abnormalities in at least one
quadrant. To make it easier remember the numbers (4-2-1).
Proliferative diabetic retinopathy (PDR) (Figure 7.4):
• Neovascularisation is the hallmark of PDR (can be near the disc or elsewhere in the
retina).
• Preretinal haemorrhages are pockets of blood (boat-shaped) between the retina and
the posterior hyaloid membrane.
• Vitreous haemorrhage may appear as a diffuse hazy blood clot within the vitreous
• Traction retinal detachments.
Clinically significant maculopathy:
• Hard exudates and thickening of the macula near the fovea.
 Eye and fundus cases in the clinical examinations 265

Figure 7.3 Non-proliferative diabetic retinopathy.

Observe microaneurysms, dot haemorrhages, and
exudates.

Figure 7.4 Proliferative diabetic retinopathy. Observe

the new vessel formation (a hallmark of proliferative
retinopathy).

Examiner: Can you name some factors that cause a rapid worsening of diabetic retinopathy?
Candidate:
• Intensive insulin therapy may lead to a transient worsening of diabetic retinopathy
during the 1st year of treatment.
• Pregnancy.
Examiner: How do you screen for diabetic retinopathy?
Candidate:
• Ophthalmoscopy: Needs a trained doctor.
• Digital fundus imaging: More accurate.
266 Part 7 Eye and fundus cases

Figure 7.5 Typical laser burn (scar) appearance for

diabetic retinopathy.

Examiner: When do you start screening for diabetic retinopathy?

Candidate:
• Type 1: 3–5 years after diagnosis.
• Type 2: At diagnosis.
Examiner: How would you manage this patient?
Candidate:
• Tight glycaemic control.
• Control blood pressure.
• Focal photocoagulation for clinically significant macular oedema.
• Panretinal photocoagulation for PDR (Figure 7.5).
• Vitrectomy for vitreous haemorrhage.
Examiner: What are the indications of laser photocoagulation for diabetic retinopathy?
Candidate:
• Proliferative retinopathy.
• Clinically significant macular oedema.
• In some cases of severe NPDR.
Examiner: What is the latest treatment for diabetic macular oedema?
Candidate: Intravitreal injections of anti-vascular endothelial growth factor (VEGF)
drugs (ranibizumab and bevacizumab) or steroids [can raise intraocular pressure (IOP)
and accelerate cataract formation].

Hypertensive retinopathy
Examiner: How would you classify hypertensive retinopathy?
Candidate:
• Mild: AV nipping and silver wiring.
• Moderate: Haemorrhages, cotton wool spots, and hard exudates.
• Severe: Optic disc swelling (papilloedema), in addition to the above (Figure 7.6).
 Eye and fundus cases in the clinical examinations 267

Figure 7.6 Severe form of hypertensive retinopathy.

Observe the optic disc swelling, the cotton wool spots,
and the flame-shaped haemorrhages.

Examiner: What is the prognostic value of hypertensive retinopathy?

Candidate: Hypertensive retinopathy is associated with increased risk of stroke, heart
failure, coronary artery disease (CAD) and possibly chronic kidney disease (CKD).
Examiner: How would you manage this patient?
Candidate:
• Control blood pressure.
• Check urea and electrolytes, lipid profile, blood sugar, and chest X-ray.
• Manage associated diabetes and hyperlipidaemia.

Optic atrophy
Examiner: What do you see in optic atrophy on fundoscopic examination?
Candidate: The optic disc appears white (pale) and bright with well-demarcated margins
(full moon against a dark red sky) (Figure 7.7).
Examiner: What are the causes of optic atrophy?
Candidate:
Acquired causes (NITROGENS):
• Nutritional: Vitamin B1, B6, and B12 deficiency.
• Ischaemia to the nerve.
• Toxic: Tobacco amblyopia, quinine, methanol, arsenic, and lead.
• Retinitis pigmentosa.
• Oncologic causes: CNS tumours.
• Glaucoma.
• Ethanol.
• Neurosyphilis and neurosarcoidosis.
• Multiple Sclerosis (most common cause).
Congenital causes:
• Friedreich’s ataxia.
• DIDMOAD – the association of Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy
and Deafness.
• Leber’s optic atrophy.
268 Part 7 Eye and fundus cases

Figure 7.7 Optic atrophy. Observe the pale and bright

looking disc with well-demarcated margins.

Figure 7.8 Papilloedema.

Papilloedema
Examiner: What is the earliest fundoscopic finding in papilloedema?
Candidate: Loss of venous pulsation.
Examiner: What are the other fundoscopic findings in papilloedema?
Candidate:
• Obliterated optic cup.
• Blurring of the disc margins.
• Hyperaemic disc.
• Flame haemorrhages and cotton wool spots inside the disc due to infarction of the
nerve fibres (Figure 7.8).
Examiner: What are the causes of papilloedema?
Candidate:
• Space-occupying lesion in the brain (tumours, abscess, haematoma, granulomas, etc.).
• Choroid plexus papilloma with increased CSF production.
 Eye and fundus cases in the clinical examinations 269

• Decreased CSF absorption: Meningitis, Guillain–Barré syndrome, and thyroid eye

disease.
• Obstruction of venous flow: Cerebral vein thrombosis and occlusion of neck veins.
• Cerebral oedema (toxins, vascular stroke, trauma, hypoxic encephalopathy, and CO2
retention).
• Unknown mechanism: Idiopathic intracranial hypertension.

Retinitis pigmentosa
Important clue: If you see trabecular bone-like lesions that are pigmented in the
periphery of the retina, it is retinitis pigmentosa (RP) (pieces of the femoral head in the
retina) (Figure 7.9).
Examiner: What are the typical symptoms caused by RP?
Candidate: The most common symptoms include difficulty seeing at night (because the
rods lie more peripherally) and a loss of peripheral vision (tunnel vision).
Examiner: What is the prevalence of RP?
Candidate: The prevalence of RP is 1 in 5,000.
Examiner: What is the mode of inheritance in RP?
Candidate: Autosomal dominant, autosomal recessive, or X-linked.
Examiner: What conditions are associated with RP?
Candidate:
• Idiopathic.
• Laurence–Moon–Bardet–Biedl syndrome (mental retardation, hypogonadism, obesity,
short stature, polydactyly, deafness, and renal cysts).
• Kearns–Sayre syndrome (ophthalmoplaegia, ptosis, and heart block).

Figure 7.9 Retinitis pigmentosa.

270 Part 7 Eye and fundus cases

• Refsum’s disease (cerebellar ataxia, peripheral neuropathy, and hearing loss).

• Usher syndrome.
• Abetalipoproteinaemia.
Examiner: What is the prognosis for RP?
Candidate: RP progresses gradually from the periphery of the retina towards the centre.
Most patients with RP are legally blind by the age of 40 years.
Examiner: Do you know any recent treatments that improve the vision in RP?
Candidate: The Argus II Retinal Prosthesis System (FDA approved). The system has three
parts – a small electronic device implanted in the eye, a tiny video camera attached to
a pair of glasses, and a video processing unit that is worn or carried by the patient. The
video camera attached to the patient’s glasses captures images of the surrounding area.
The video processing unit then processes these images as electrical signals. The signal is
then wirelessly delivered to the eye stimulating the retina. This electrical stimulation of
the retina is recognised by the brain as spots of light.

Central retinal vein occlusion

Important clue: Central retinal vein occlusion (CRVO) characteristically gives rise to
diffuse retinal haemorrhages and dilated retinal veins (Figures 7.10 and 7.11).
Examiner: What are the causes and risk factors of CRVO?
Candidate:
• Age.
• Diabetes.
• Hypertension.
• Smoking.
• Hypercoagulable states: Factor V Leiden, Behçet’s disease, polycythaemia, etc.
• Vasculitis.
• Glaucoma.
Examiner: What are the complications of CRVO?

Figure 7.10 Central retinal vein occlusion.

 Eye and fundus cases in the clinical examinations 271

Figure 7.11 Branch retinal vein occlusion.

Candidate:
• Neovascularisation may lead to neovascular glaucoma and vitreous haemorrhage.
• Macular oedema.
• Visual loss.
Examiner: What is the prognosis in CRVO?
Candidate: Prognosis depends on the initial visual acuity after occlusion. If the initial
visual acuity is good, the prognosis is good but if the initial visual acuity is worse than
20/200, it will remain at that level or worsen.
Examiner: How would you manage this patient?
Candidate:
• Intraocular injection of an anti-VEGF drug.
• Intravitreal steroids dexamethasone triamcinolone to reduce macular oedema.
• Laser photocoagulation for neovascularisation.
• Search for the underlying cause. Check blood sugar and blood pressure and request
thrombophilia work-up. Behçet’s disease is easily forgotten by the candidates as a
cause of CRVO or other kinds of thrombosis. Take a detailed history regarding recurrent
mouth ulcers or joint pains.

Central retinal artery and branch retinal artery occlusion

Important clue: In central retinal artery (CRA) occlusion, the infarcted retina will appear
white and a cherry-red spot appears in the macula (Figure 7.12). In branch retinal artery
occlusion, part of the retina supplied by that branch will appear white (pale).
Examiner: From which artery does the CRA originate?
Candidate: CRA originates from the ophthalmic artery, which is a branch of the internal
carotid artery.
Examiner: What is the typical presentation in CRA occlusion?
Candidate: The patient with CRA occlusion typically presents with sudden, severe, and
painless loss of vision in one eye.
272 Part 7 Eye and fundus cases

Figure 7.12 Central retinal artery occlusion. Observe

the pale retina and the cherry-red spot.

Examiner: What are the causes of CRA occlusion?

Candidate:
• Embolisation from an atherosclerotic plaque of the internal carotid artery is the most
common cause of CRA occlusion.
• Cardioembolic stroke (such as atrial fibrillation and mitral stenosis)
• Giant cell arteritis. It should be considered in any patient above the age of 50 years who
presents with CRA occlusion.
• Thrombophilia (such as an anti-phospholipid antibody, connective tissue disorders,
inherited thrombophilia, leukaemia, etc.).
Examiner: What is the prognosis of CRA occlusion?
Candidate: The prognosis is poor. The majority of patients develop permanent loss of
vision. Occlusion lasting > 240 minutes usually produces irreversible loss of vision.
Examiner: How would you manage this patient?
Candidate: CRA occlusion is a medical emergency and treatment should be provided
within 6 hours of the onset of symptoms.
Acute treatments:
• Intra-arterial thrombolysis is considered the main acute therapy.
• Surgical revascularisation: YAG laser embolectomy or pars plana vitrectomy.
Other acute treatments:
• Ocular massage in an attempt to dislodge the clot.
• Anterior chamber paracentesis: Increases CRA perfusion by reducing IOP.
• Intravenous acetazolamide to reduce IOP and increase CRA perfusion.
Investigate and treat the underlying cause:
• Check ESR and C-reactive protein (CRP), if giant cell arteritis is suspected
• MRI brain, if a stroke is suspected.
• Electrocardiogram (ECG) and echocardiography.
• Thrombophilia work-up.
• Aspirin therapy, if the cause is stroke/embolism.
• Control risk factors for atherosclerosis such as diabetes, hypertension, smoking, and
dyslipidaemia.
 Further reading 273

Further reading
American Diabetes Association. “9. Microvascular Complications and Foot Care.” Diabetes Care 2016; 39:S58–S66.
Bhargava M, Wong TY. Current concepts in hypertensive retinopathy: the retinal physician is often the first to
detect it. Retinal Physician 2013: 10:43–54.
Early Treatment Diabetic Retinopathy Study Research Group. Grading diabetic retinopathy from stereoscopic
color fundus photographs–an extension of the modified Airlie House classification. ETDRS report number
10. Ophthalmology 1991; 98:786–806.
Hoorbakht H, Bagherkashi F. Optic neuritis, its differential diagnosis, and management. Open Ophthalmol J
2012; 6:65–72.
Lihteh Wu, Priscilla Fernandez-Loaiza, Hernandez-Bogantes E, Masis M. Classification of diabetic retinopathy
and diabetic macular edema. World J Diabetes 2013; 4:290–294.
Querques G, Triolo G, Casalino G, et al. Retinal venous occlusions: diagnosis and choice of treatments.
Ophthalmic Res 2013; 49:215–222.
Sarao MS, Sharma S. (2019). Adie Syndrome. [online] Available from https://www.ncbi.nlm.nih.gov/books/
NBK531471/. [Last accessed May, 2020].
Sim S, Ting D, Fekrat S (American Academy of Ophthalmology). (2017). Diagnosis and management of central
retinal artery occlusion. [online] Available from https://www.aao.org/eyenet/article/diagnosis-and-
management-of-crao?august-2017. [Last accessed May, 2020].
US Food and Drug Administration. Medical devices: Argus II Retinal Prosthesis System – H110002.
[online] Available from http://www.fda.gov/medicaldevices/productsandmedicalprocedures/
deviceapprovalsandclearances/. [Last accessed May, 2020].
Varma DD, Cugati S, Lee AW, Chen CS. A review of central retinal artery occlusion: clinical presentation and
management. Eye (Lond) 2013; 27:688–697.
Wilkinson CP, Ferris FL, Klein RE, Lee PP, Agardh CD, Davis M, et al. Proposed international clinical diabetic
retinopathy and diabetic macular edema disease severity scales. Ophthalmology 2003; 110:1677–1682.
Wong TY, Mitchell P. Hypertensive Retinopathy. N Engl J Med 2004; 351:2310–2317.
 Index

Note: Page numbers in bold or italic refer to tables or figures respectively.

A Afferent pupillary defect 261 Anhidrosis 187

Air Ankle jerks
Abdomen 87
bronchogram 70 absent 138
midline scar in 108
pollution 80 loss of 142, 145
Abdominal cases 87
Alanine aminotransferase (ALT) 106 Ankle reflexes, loss of 251
Abdominal discomfort, causes
Alcohol 104 Ankylosing spondylitis 12, 18, 59,
of 117
induced cerebellar 71, 214, 215, 223, 224, 224, 225,
Abdominal inspection 91
degeneration 170 226
Abdominal pain 129
induced cirrhosis 95 complications of 225
causes of 120, 241
Alcoholic cirrhosis 89 Anorectal varices 95
Abdominal palpation 92
Alcoholic liver disease 94 Anterior uveitis 215, 258
Abdominal percussion 93
Alkaline phosphatase, Anti-aquaporin-4 (AQP4) 262
Abducent nerve 162
predominant elevation of 105 Antibiotic administration 55
palsy, right 162
Allergic bronchopulmonary Anticholinesterase
Abductor pollicis brevis 155
aspergillosis 63 drugs 173
Abetalipoproteinaemia 270
Allodynia 184 inhibitors 174
Abscess 268
Allogeneic stem cell Anti-cyclic citrullinated peptide
Acanthosis nigricans 204
transplantation 119 antibodies (ACCP) 61
Accessory nerve 162
Allopurinol 128 Anti-GQ1B antibodies 152
Achilles tendinitis 226
Alport syndrome 88, 89, 112, 112, Antimitochondrial antibodies
Achilles tendon 226
114 (AMA) 98
Acid-fast bacilli (AFB) 68
abnormality in 114 Antinuclear antibodies (ANA) 98
Acoustic nerve 162
type of 114 Anti-smooth muscle antibodies
Acquired immunodeficiency
Aminoglycosides 173 (ASMA) 98
syndrome 98
Amiodarone 34, 60, 94 Antithyroid drugs 201
Acquired neuromyotonia 177
Ampicillin 48 pre-treatment with 200
Acromegalic appearance 205
Amyloidosis 37 Anti-tumour necrosis factor (TNF)
Acromegaly 202, 203
Amyotrophic lateral sclerosis 146 agent 223
causes of 205
Anaemia 117 Anti-vascular endothelial growth
diagnosis of 205
cause of 220 factor 266
Actinobacillus 46
in myelofibrosis, mechanisms Aortic area 5
Acute asthma exacerbation,
of 118 Aortic dissection 18, 235
severity of 83
in systemic sclerosis 228 Aortic regurgitation (AR) 17, 23, 23
Adalimumab 226
mechanisms of 95 diagnosis of 7
Adenocarcinoma 81
of chronic diseases 221 signs of 12
Adrenocorticotropic hormone
Anaplastic lymphoma kinase (ALK) Aortic root disease 18
(ACTH) 208, 260
82 Aortic stenosis (AS) 10, 19, 23, 23
dependent Cushing’s syndrome
Ancillary tests 85 Aortic valve disease 5
208
Angina, recurrent 24 Ape hand deformity 155
Adult polycystic kidney disease
Angiotensin receptor blocker (ARB) Aphrophilus 46
(APKD) 109, 110
37, 110 Apical lung
complications of 110
Angiotensin receptor-neprilysin fibrosis 72
diagnostic criteria for 110
inhibitor 37 tumour 160 see also Pancoast
extrarenal manifestations of
Angiotensin-converting enzyme tumour
110
(ACE) inhibitor 98 Apixaban 34
Aegophony 70
276 Index

Arachnodactyly, test for 233 cause of 165 Bronchitis, chronic 59

Argyll-Robertson pupil 138, 258 complications of 166 Bronchodilators 65
Arteriovenous (AV) fistula 90 prognosis of 166 Bronchogenic carcinoma 78, 79
Arthritis Bell’s phenomenon 165 Bronchogenic neoplasm 69, 79
deforming 213 left-sided 165 Bronchophony 70
mutilans 221 mechanism of 164 Bronchoscopy 49
treatment, acute 223 Berylliosis 59 Bronchus, obstruction of 63
Arthropathy 250 Beta-thalassaemia, mechanism Bronze diabetes 101
deforming 222 of 108 Brucella 47
Asbestos exposure 80 Bevacizumab 266 Budd–Chiari syndrome 94, 120,
Asbestosis 58, 61 Bicuspid valve 20 124, 125, 130
Ascites 123, 123, 125 Bioprosthetic valve 27 Bulbar palsy 146, 147, 167, 192
causes of 123, 125, 126 Biopsy scar 127 causes of 192
clinical sign for 125 Bird fancier’s lung 60 see also clinical features of 192
Aspartate aminotransferase (AST) Pigeon Breeder’s disease progressive 147
106 Bisphosphonates 240 Burkholderia cepacia 65
Aspergillus 64 Bitemporal haemianopia 260 Busulfan 60
Asthma 76, 84 Bitemporal quadrantanopia 260
acute moderate 83 Bleeding varices 88
acute severe 83 Bleomycin 60 C
diagnose 84 Blood flow direction, Cachexia 53, 87
exacerbation 83 determination of 92 Café-au-lait lesions 248
manage acute 85 Blood pressure Calcinosis, evidence of 228
life-threatening 84 high 228 Campbell sign 74
severe 53 uncontrolled 130 Campylobacter jejuni testing 153
Ataxic gait 189 see also Cerebellar Blood transfusion Carbidopa 185
ataxia set 88 Cardiac auscultation 10
Athetosis 193 therapy, long-term 109 Cardiac complications 177
Atopic dermatitis 65 Bone Cardiac computed tomography 37
Atrial fibrillation (AF) 8, 25, 33 marrow examination 118 Cardiac device, implanted 43
causes of 34 pain and aches 239 Cardiac resynchronisation therapy
Atrial septal defect (ASD) 14, 30 Botulism 173 (CRT) 8, 45
type of 30 Bouchard’s nodes 220 Cardiobacterium 46
Attend regular bedside clinical Boutonniere deformity 221 Cardioembolic stroke 272
teaching sessions 3 Bowl ischaemia 242 Cardiovascular cases 7
Autoimmune Brachial plexus lesion 160 Cardiovascular disease 75, 205,
disorders 128 Bradykinesia 184 206
hepatitis 94, 98 Brain tumours 144 risk of 131
Autonomic neuropathy 252 Brainstem Cardiovascular system 12, 181
Autosomal dominant disease 176 infarction 192 Carotid space, lesions in 167
Avascular necrosis, risk of 207 meningitis 164 Carpal tunnel syndrome 157, 158,
Avatrombopag 99 stroke 188 204, 217, 221
Axillary freckling 249 Branch retinal causes of 159
Azathioprine 223 artery occlusion 271 testing for 157
vein occlusion 271 Cataract 257, 258
B Breast cancer 80 Catechol-O-methyltransferase 185
Babinski sign 135 Breath sounds, intensity of 55 Cavernous sinus thrombosis 163
Baby hippopotamus 170, 191 Breathing, forward and hold 11 Cell cancer, non-small 70
Basal meningitis 163 Broca’s dysphasia 191 Central nervous system 140
Beau’s lines of chemotherapy 89 Bronchial breathing 55 Central retinal artery (CRA) 271
Beevor’s sign 18, 179, 180 Bronchiectasis 53, 62, 63 occlusion 257, 271, 272
Behçet’s disease 140, 261, 270 bilateral 63 causes of 272
Beighton score 236 causes of 63 prognosis of 272
Bell’s palsy 164, 165 complications of 64 origin 271
 Index 277

Central retinal vein occlusion 257, Chronic kidney disease (CKD) 150, Cord compression, suspected 139
270, 270 267 Cornea 198
causes of 270 Chronic liver disease (CLD) 91, 92, Coronary angiography 37
complications of 270 94, 150 Coronary artery disease (CAD) 62,
prognosis in 271 cause of 96 267
risk factors of 270 complications of 97 Corrigan’s pulse 8, 18
Cerebellar ataxia 135, 145 stigmata of 87 Corrigan’s sign 17
Cerebellar disease 170, 170 Chronic myelogenous leukaemia Corticosteroid 230
Cerebellar function 170 (CML) 117 Cotton-wool spots 264
Cerebellar hemispheres 170 Chronic obstructive pulmonary Cranial nerve
Cerebellar stroke disease (COPD) 40, 53, 73, 73, 84 abnormalities 161
haemorrhage 169 risk factors for 75 examination 161
ischaemia 169 Chvostek’s and Trousseau’s signs Cranial nerve palsy 161
Cerebellar syndrome 168, 169, 191 210 sixth 164
causes of 169, 189, 191 Chylous ascites 124 third 163
Cerebellar system 169 Ciliary ganglion 263 Creatine phosphokinase (CPK) 180
Cerebellar tumour 169 Ciprofloxacin 48 level 230
Cerebral gigantism 205 Cirrhosis 95 Crocodile tears 166
Cerebral lesions 167 Cirrhotic ascites 99, 126 Crohn’s disease 143
Cerebrospinal fluid (CSF) 139 Cirrhotic patients with ascites, Crutch palsy 158
Cervical lymphadenopathy 127 prognosis of 126 Cryptogenic fibrosing alveolitis 58
Cervical myelopathy 147 Claw hand 137, 137, 149 Cryptosporidial infections 112
Charcot’s joint 138, 144, 251, 251, Clostridium difficile infection 112 Cubitus valgus 212
253, 254, 254 Coarctation of aorta 212 Culture-negative endocarditis,
causes of 253 signs of 212 causes of 46
Charcot-Marie-Tooth 148, 151 Coarse crackles 62 Cushing’s disease, pituitary-related
cause 151 Cognitive changes 194 209
disease 134 Cognitive dysfunction 143 Cushing’s features 111
genetic abnormality in 151 Cogwheel rigidity 183 Cushing’s syndrome 53, 81, 88,
mode of inheritance in 151 COL415 genes 114 112, 206, 207, 207
peripheral nerves in 151 COL4A3 genes 114 causes of 208
Chemosis 197 COL4A4 genes 114 Cushingoid appearance 112, 214
Chemotherapeutic agents 58 COL5A1 gene 237 Cutis verticis gyrata 202, 203, 203
Chest COL5A2 gene 237 Cyanosis 54
and back, examine 217 Colonoscopy 49 Cyanotic congenital heart disease
and left thoracotomy scar, Common bile duct (CBD) 106 49
asymmetry of 55 Complete blood count 27 Cyclic adenosine monophosphate
asymmetry of 71 Confrontation test 258 (c-AMP) 211
drain scars 56 Congenital heart Cyst
infections defect 49 haemorrhage 109
previous 63 disease 49 large hydrated 125
repeated 64 Congestive heart failure (CHF) 25, Cystic fibrosis 58, 59, 63-65
percussion, sites for 56 67, 105, 125 diagnose 64
Child-Turcotte-Pugh scoring causes of 36 transmembrane conductance
system 95 Conjugate gaze abnormalities regulator (CFTR) 65
Chlorpromazine 173 194 Cystoscopy 49
Cholangiocarcinoma 104 Conjugated hyperbilirubinaemia Cytomegalovirus (CMV) colitis 112
Cholestatic jaundice 96, 104 105 Cytosine-adenine-guanine
Chorea 193 causes of 105 trinucleotide 193
causes of 193 Conjunctival pallor 53
Chronic hypertension (HTN) 10 Connective tissue disease 40, 149 D
Chronic inflammatory Constrictive pericarditis 67, 124 Dabigatran 34
demyelinating polyneuropathy, Copper deficiency 142 de Musset’s sign 18
diagnosis of 148 Cor pulmonale 54, 75 Deafness 269
278 Index

Death in acromegaly, cause of 205 Dual-energy X-ray absorptiometry Eplerenone 38

Deep brain stimulation 185 (DEXA) scan 101 Equine gait 189
Deep vein thrombosis 139 Dubin-Johnson syndrome 105 Erythrocyte sedimentation rate
Deforming arthropathy, common Duck walk 190 (ESR) 12, 151
causes of 219 Dull percussion 72 level 263
Degenerative mitral annulus 22 Dullness over lung Erythropoietin 119
Dementia 143 apex 72 Essential thrombocythaemia (ET)
Demyelinating disease 138 base 66 118
Depression 75, 194 Dupuytren’s contracture 89, 96 Etanercept 226
Dermatomyositis 217, 219, 219, Duroziez sign 18 Exacerbate myasthaenia 173
243 Dysarthria 169, 170, 191 Examiner’s impression 5
papules in 215, 217 Dyskinesia syndrome 63 Expressive dysphasia 191 see also
systemic manifestations of 244 Dysphasia 191 motor aphasia
Desferrioxamine injections 107, receptive 191 Extrahepatic cholestasis 105
107 Dysphonia 146, 186, 191 Extrinsic allergic alveolitis 58, 61
Dextrocardia 10, 32, 32, 33, 63 Dyspnoea 24 Extrinsic muscles 166
Diabetes 144 Dystonia 193 Exudative pleural effusion 66
mellitus 149, 164 Eye
Diabetic dermopathy 11, 149, 251 E and fundus cases 257
Diabetic foot 250, 251, 253 and fundus, examine 138
Early diastolic murmur 17
ulcer, risk factors for 252 examination 206
Ears 217
Diabetic leg, examine 251 lens, cone-shaped 114
Eaton–Lambert syndrome 173
Diabetic macular oedema, movements 258
Ectopia lentis 233
treatment for 266 normal 258
Edinger–Westphal nucleus 144
Diabetic neuropathy 252, 253, 257, problems, common 258
Ehlers–Danlos syndrome 18, 233,
264-266, 266 Eyelid, lower 198
235
development of 253, 264
type of 237
types of 252 F
Eikenella 46
Diabetic retinopathy
Eisenmenger complex 12, 29 Faber and Gaenslen’s test 225
classified 264
Ejection systolic murmur 30 Faber test 225
laser photocoagulation for 266
Elbow 159 Facial nerve 162
rapid worsening of 265
examine 217 Facial palsy 165
signs of 264
joint 183 Facial sweating, absence of 72
Diarrhoea 112
Elevated haemidiaphragm 66 Facioscapulohumeral muscular
drug-induced 112
Elicit percussion myotonia 176 dystrophy 177
Digital ulcers 215
Emphysema 59, 73 False localising sign 164
Digoxin 34, 38
Enalapril 37 Farmer’s lung 60
Diltiazem 34
Endobronchial intubation 49 Fenfluramine 40
Diphtheria 192
Endocardial wall 13 Festination 189
Diplopia 178, 258
Endocrine diseases 65 Fever 129
causes of 172
Endoscopic retrograde Fibrillin-1 gene 234
Disease-modifying antirheumatic
cholangiopancreatography Fibrosis 24
drugs (DMARDs) 223
(ERCP) 106 Finger
Disseminating encephalomyelitis,
End-stage liver disease scoring abduction, testing for 157
acute 140
system, model for 95 spindling of 221
Distal arthropathy 214
End-stage renal disease (ESRD) 14 Finger clubbing 12
Distal interphalangeal (DIP) joints
Enterococcus 46 bilateral basal crackles
220
Enthesitis 226 with 57
Distal symmetric polyneuropathy
Enzyme replacement therapy (ERT) without 57
252
122 Finger-to-nose 169, 170
Dornase alfa 65 see also
Eosinophilic leukaemia, chronic 118 Fissured tongue 165
pulmozyme
Epidermal growth factor receptor Flaccid paraparaesis 135
Dorsiflexion and plantar flexion 252
(EGFR) 82 Flame-shaped haemorrhages 264
Dropped head syndrome 186
Episcleritis 53 Flexor pollicis brevis 155
 Index 279

Fluorodeoxyglucose (FDG) 232 Gold stage 75 deformities 216

Fluoroquinolones 173 Gonads 101 examination 8
Focal segmental Gottron nodules 215, 217 examine 88
glomerulosclerosis (FSGS) 113 Gout dorsum of 244
Folate deficiency 142 acute 222 function, test 157
Follicle-stimulating hormone (FSH) cause of 221 nerves, causes of paralysis of 159
177, 213, 260 complications of 222 pain 204, 229
Forced vital capacity (FVC) 153 risk factors for 221 Hard exudates 264
Forehead muscles 164 Gouty arthritis 219, 220 Headache, recurrent 109
Frataxin gene 145 Gouty tophi 215 Hearing aids 89, 114, 238
Friedreich’s ataxia 135, 136, 136, Granulomas 268 Hearing loss 112, 239, 240
137, 138, 140, 145, 170, 189, 267 Granulomatous cheilitis 165 type of 239
cause of death in 145 Grave’s disease 197, 198, 199, 199, Heart 101
complications of 145 201 block 269
prognosis in 145 Grave’s ophthalmopathy 199 examine 7
suspected 139 treatment of 202 Heart disease 7
Froment’s sign 157, 158 Grip myotonia 176 serious 7
Fundoscopic examination 263 Gritty eye sensation 102 Heart failure 6, 7, 28, 35, 240
Fundoscopy 258 Gritty sensations 229 high-risk of 206
Fundus and hearing 179 Growth hormone (GH) 260 right 29, 45
Fundus examination 263 measurement of 205 signs of 27
releasing hormone (GHRH) Heart sound
G 205 first 10, 23
Gaenslen’s test 225 Guillain–Barré syndrome 133, fourth 23
Gait 148–150, 152, 165, 192 second 10
abnormal 188 Gynaecomastia 81, 91 third 23
abnormalities, common 189 Gyri of scalp 202 Heart-lung transplantation 30
examine 134 Heberden’s nodes 220
quickening of 189 H Heel-shin test 134, 169, 170
Gallavardin phenomenon 12, 20 Haematological diseases 88 in lower limbs 134
Gamma-aminobutyric acid 184 Haematological disorders 41 Hemiballismus, cause of 193
Gastric varices 95 Haematoma 268 Henoch-Schönlein (HS) purpura
Gastroscopy 49 Haematuria 114 240, 241
Gaucher’s disease 41, 116, 121, Haemiballismus 193 complications of 242
122, 128 Haemiplegic gait 190 diagnosis of 242
basic abnormality in 122 Haemochromatosis 37, 99–101, Hepatic cause 104 see also
type 1 121 104 Haemolytic cause
Genetic haemochromatosis 100 signs of 100 Hepatic encephalopathy 98
Genioglossus muscle 166 Haemoglobin (HB) 108 Hepatic venous pressure gradient
Gentamicin 48 electrophoresis 42 (HVPG) 95
Gilbert’s syndrome 105 Haemolytic anaemia 42, 88 Hepatitis 91
Gingival hyperplasia 111 chronic 41 Hepatitis C 96, 130, 149
Glomerular filtration rate (GFR) Haemophilus influenzae 65 virus 94, 130
114 type B 117 infection, treatment of 99
Glomerulonephritis 47, 242 Haemophilus parainfluenzae 46 virus-associated
Glossopharyngeal and vagus nerve Haemorrhage 166 cryoglobulinaemia 96
162 dot and blot 264 Hepatocellular carcinoma 95, 98
Glucocerebrosidase enzyme 122 Hair risk for 95, 101
Glucosylceramide 122 see also distribution 89 Hepatomegaly, causes of 97
Glycolipid loss of 87 Hepatopulmonary syndrome 97
synthase, inhibitor of 122 Half syndrome 168 Hepatosplenomegaly 115
Glycogen storage disease 41, 65 Hand causes of 115
Goitre 197 arthritis, causes of 220 differential diagnosis of 121
diffuse 198 deforming arthropathy of 213 Hepcidin 100
280 Index

Hereditary haemorrhagic Hypertensive retinopathy 266, Interstitial lung diseases (ILDs) 53,
telangiectasia 245, 246, 246 267, 267 58, 61
family history of 246 Hyperthyroid 200 Intracranial pressure 164
Hereditary oxalosis 113 diseases, radioiodine therapy Intrahepatic cholestasis 105
Hereditary sensorimotor in 200 Irritability 194
neuropathy 151 Hyperthyroidism 199 Ischaemic heart disease 16, 36
Hereditary spastic paraparaesis causes of 200 see also Rupture papillary muscle
138 signs of 199 Isosorbide dinitrate 38
Herpes simplex virus 165 symptoms of 199 Isospora 112
Herpes zoster 164 Hypertrophic cardiomyopathy Ivabradine 38
HFE (HCM) 20, 23
gene 100 Hypertrophic pulmonary
J
protein 100 osteoarthropathy (HPOA) 80, 81
Hill sign 18 Hypoalbuminaemia 67 Janus kinase 118
Hirsutism 111 Hypocalcaemia 210 Jaundice 90, 91, 94, 97, 103, 129,
Histoplasmosis 59 Hypogammaglobulinaemia 63, 131
Holmes-Adie pupil 258, 259 177 causes of 105, 131
causes of 263 Hypoglossal canal 167 clinical 104
Holmes-Adie syndrome 262 Hypoglossal nerve 162, 166 dark (green) 105
triad of 262 palsy 166 differential diagnosis of 107
Holter monitoring 34 causes of 166 type of 104
Homocystinuria 211, 233 right 163 Joint
Homonymous haemianopia 259 Hypoglycaemia 81 aspiration 222
Homonymous quadrantanopia 259 Hypogonadism 269 pain 208
Homozygous deficiency 76 Hypokalaemia 143 swelling 251 see also Joint
Hoover’s sign, positive 73 Hypopigmented scars 107 deformities
Horner’s syndrome 53, 72, 160, Hypothyroidism 67 Jugular venous pressure (JVP) 7, 54
186, 187, 258 Hypoxia 40
causes of 188 K
left 186
I Kaposi sarcoma 113
Horseshoe kidneys 213
Kartagener’s syndrome 32, 33,
Hot tub lung 60 Idiopathic granulomatous
63, 63
Human immunodeficiency virus inflammation 164
Kayser–Fleischer (KF) rings 98
40, 142 Idiopathic pulmonary fibrosis (IPF)
Kearns–Sayre syndrome 269
Human leucocyte antigens (HLA) 57, 59, 61
Kidney
114 Iliac fossa, right 111
function 111
Humidifier lung 60 Immune complex phenomena 47
transplanted 113
Huntington’s disease 193 Implantable cardioverter-
Kingella 46
cardinal features of 194 defibrillator (ICD) 8, 25
Koilonychia 89
Hyaluronic acid 201 scar 10
Hydralazine 38, 60 Ineffective erythropoiesis 107
Hydroxychloroquine 223 Infective endocarditis 8, 25, 46 L
Hyperbilirubinaemia 105 section 28 Lactate dehydrogenase (LDH) 118
Hypercalcaemia 81 signs of 7, 27 Lactitol 98
Hypermobility 237 Infiltrative diseases 37 Lactulose 98
joints 236 Infraclavicular pacemaker, left 10 Lambert–Eaton myasthaenic
Hyperreflexia 137 Inhaler therapy 76 syndrome 81
Hypersensitivity pneumonitis Insulin and bisphosphonates 65 Laparoscopy scar 107
chronic 57, 59 Insulin-like growth factor 1 (IGF-1) Large airway obstruction 83
panel 61 260 Laryngoscopy 49
Hypertension 36 Internal jugular vein position in Laurence–Moon–Bardet-Biedl
cause of 232 neck 42 syndrome 269
control 110 Internuclear ophthalmoplaegia 167 Leber’s optic atrophy 267
portal 124 cause of 167 Leflunomide 223
 Index 281

Left atrial appendage 35 causes of 71 Marantic endocarditis 48

Left atrial myxoma 13 clinical signs of 71 Marcus gunn pupil 138, 140, 261
Left bundle branch block (LBBB) 45 Low back pain 207 Marfan’s syndrome 7, 18, 232, 233,
Left lung, lobectomy of 55 cause of 212 234, 236, 237
Left ventricular assist device (LVAD) Lower limb 133 cardiac manifestations of 235
44 differential diagnosis of 142 diagnosis of 233
Left ventricular outflow neurologic examination of 133 differential diagnoses of 233
obstruction 31 neurological cases, common Marfanoid habitus 7
Legionella 47 135 Massive fibrosis, progressive 59
Legs Lower motor neuron 135 Massive haemoptysis 64
bowing of 238 facial palsy 164 Massive splenomegaly 116
pitting oedema of 11 causes of 164 causes of 116, 117
Lens dislocation 233, 234 lesions 166 Maxillary bones 238
Leprosy 149 Lower sternal border, left 23 Maze procedure 34
peripheral neuropathy in 149 Lowering serum uric acid level 223 McCune-Albright syndrome 205
Lesions in medulla 166 Lumbar side flexion test 225 McDonald criteria 140
Leucocytoclastic small vessel Lung 66 Measles 63
vasculitis, causes of 241 computed tomography scan Meconium ileus equivalent (MIE) 65
Leucocytoclastic vasculitides 241 70 Medial medullary syndrome 166
Leuconychia 87, 88, 94 function testing 153 Medial rectus muscle, normal 168
Leukaemic transformation, acute Lung cancer 53, 62, 71, 75, 80 Median nerve
118 see also Breast cancer injury 156
Levodopa 185 see also Sinemet causes hypercalcaemia in 81 palsy 158
Libman-Sack’s endocarditis 48 diagnosis of 82 Median sternotomy scar 9
Lid signs of 77 Mediastinal germ cell neoplasms
lag 197 type of 80 78
retraction 197 Lung diseases 40 Mediastinal masses, causes of
Light’s criteria 67 occupational 58 anterior 79
Limb-girdle muscular dystrophy Lung fibrosis 59, 80 Medullary infarction 166
(LGMD) 180 unilateral 71 Meigs syndrome 67
Lisch nodules 247 see also Iris Lung lobes 56 Meiotic pupil 187
hamartomas surface anatomy of 57 Melkersson-Rosenthal syndrome
Livedo reticularis 150 Luteinising hormone (LH) 213, 260 165
Liver 101 Lutembacher’s syndrome 14 Membranous glomerulonephritis
biopsy 101 Lyme disease 149, 165 113
cirrhosis 67, 91, 125-127 Lymph node 128 Mental retardation 269
ascites in 125 groups of 128 Mercedes-Benz
dullness 74 Lymphadenopathy 127, 128 incision scar 129
function test (LFT) 42, 98 Lymphocytic pleural effusion, scar 91, 92
kidney microsome (LKM) 98 causes of 67 Mesenteric thrombosis 120
Liver transplant 91, 92, 129, 131 Lymphoma 113 Mesothelioma 68
causes of mortality in 131 type of 78 Metabolic disorders 41
Liver transplantation Lymphoproliferative disorders 115 Metabolic syndrome 75
contraindications for 130 Metacarpal bone, short fifth 210
indications for 98, 130 Metacarpophalangeal (MCP) joints
M
prognosis of 130 220
Lobar collapse 69 Macrolides 173 Metallic aortic valve 26
causes of 70 Magnesium 173 Metallic valve 8, 27
signs in 70 Malar flush 7 complications of 27
Lobar consolidation 69 Malar rash 214 normal 27
causes of 70 Malfunctioning metallic valve 27 Metastatic carcinoma 167
Lobar pneumonia 70 Malignancy associated with Methacholine challenge test (MCT)
Lobectomy 66, 71 acromegaly, type of 205 84
282 Index

Methotrexate 60, 94, 223 Muscular dystrophies 190 type 1 249, 250
Methylprednisolone 169 Muscular myopathies 190 vasculopathy 250
Metronidazole 149 Musk antibodies 174 Neurologic abnormalities 143
Microaneurysms 264 Myasthaenia 173, 186 Neurology cases 133
Microsporidia 112 diagnosis of 174 Neuromyelitis optica 141, 261, 262
Middle ear infection 164 diplopia of 172 Neuropathy 250
Miller-Fisher syndrome 168 Myasthaenia gravis 171, 171, Neurosarcoidosis 144
Miller-Fisher variant 152 172–174, 178, 192 Neutrophilic leukaemia, chronic
Mineralocorticoid receptor case of 171 118
antagonists 38 types of 172 Neutrophils 241
Mitral annular calcification 14 Myasthaenic crisis 173, 174 Niemann-Pick disease 128
Mitral area 20, 33 treatment of 174 Nintedanib 62
Mitral face 7 Myasthaenic sneer 172 Nitric oxide 84
Mitral regurgitation 16, 23, 25 Myasthaenic weakness 172 Nitrofurantoin 60, 149
Mitral stenosis (MS) 7, 12, 23 Mycobacterium avium 60 Nocturnal breathlessness 204
complications of 140 Mycotic aneurysms 47 Nodal osteoarthrosis 220
diagnosis of 7 Myelofibrosis 93, 117 Nonalcoholic fatty liver disease
facial appearance in 7 complications of 118 (NAFLD) 94
murmur 11 diagnostic criteria for 119 Nonbacterial thrombotic
Mitral valve disease 10 Myeloproliferative disorders 115 endocarditis 48
Mixed valvular lesions 22 Myeloproliferative neoplasms 117 Non-Hodgkin lymphoma 78
Monoamine oxidase-B 185 Myocardial fibrosis 37 Nonpharmacological alternative
Mononeuropathy 252 Myocarditis 36, 37 therapies 185
multiplex 252 Myoclonus 193 Non-proliferative diabetic
Moon-like face 210 Myopathic face 172, 172, 178, 179 retinopathy (NPDR) 264, 265
Motor neuron 146 Myopathic gait 181, 190 Nonsteroidal anti-inflammatory
Motor neuron disease (MND) 137, Myotonia 177 drugs (NSAIDs) 98, 221
146, 146, 192 congenita 177 Nystagmus 171
diagnosis of 146, 147 dystrophy (MD) 175–178
fasciculations in 147 Myotonic dystrophy, cardinal O
types of 146 manifestations of 176 Obesity 269
Movement disorder 192 Myxoma, diagnosing 13 Obeticholic acid 103
Mucolytic nebulisation 65 Obstructive jaundice 104–106
Mucopolysaccharidosis 65 N see also Cholestatic jaundice
Müller sign 18 Nail Occiput-to-wall distance testing
Multiple myeloma 150 fold infarcts 215 225
Multiple neurofibromas 248 onycholysis 197, 198, 199 Ocular abnormalities 114
Multiple sclerosis 135, 137, 139, pitting of 215 Oculomotor nerves 162
144, 167, 192, 261 Nasal speech 186, 191 Oculopharyngeal dystrophy 173
diagnosis of 140 Nasopharyngeal carcinoma 167 Oesophageal varices 95
differential diagnosis of 141 Natriuretic peptides 37 Oesophagogastroduodenoscopy
prognostic factors in 141 Near-fatal asthma 84 (OGD) 99
suspected 139 Nebulised hypertonic saline 65 Olfactory nerve 161
treatment 142 Nephrogenic systemic sclerosis 230 One and a half syndrome 168
types of 140 Nephrolithiasis 109 Onycholysis 215
Multiple vascular occlusions 231 Nephrotic syndrome 64, 67, 125 Ophthalmopathy, risk of worsening
Murmur 23 Nerve of 201
Muscle ischaemia of 163, 164 Ophthalmoplaegia 178, 197, 258,
atrophy 146 of extensors 155 269
fasciculations 137, 146 Nerve palsy Optic atrophy 139, 143, 267, 268
specific tyrosine kinase bilateral seventh 165 Optic disc 258
antibodies 174 third 163 papillitis 138
wasting 75 Neurofibromatosis 247, 248, 249 Optic nerve 162
Muscular atrophy, progressive 147 complications of type 1 250 posterior portion of 140
 Index 283

Optic neuritis 81, 140, 141, 258, pill-rolling tremor of 182 Pneumococcal vaccine, type of 76
260, 261 signs of 188 Pneumoconiosis 58
causes of 261 Parkinsonian gait 189 Pneumonectomy 66, 71
manifestation of 140 Parkinson-plus syndromes 184 clinical examinations in 71
prognosis of 262 Parotid enlargement 89, 96 clinical signs of 71
pupillary defect in 261 Parotid tumour 164 Pneumonia 63
Orthostatic hypotension from Patient’s illness 1 Podagra 221
autonomic neuropathy, Peak expiratory flow (PEF) 74 Poliomyelitis 134, 192
treatment of 252 Pectoralis major, wasting of 178 bilateral 148
Ortner’s syndrome 15 Pectus carinatum 9, 235 Polyarteritis nodosa (PAN) 150
Osler’s nodes 8, 47 Pectus excavatum 9, 235 Polycystic liver disease 130
Osler–Weber–Rendu disease 245 Pelvic girdle 190 Polycythaemia 75, 270
Osteoarthrosis 219, 220 Percussion myotonia 175 Polycythaemia vera 102, 118, 119,
Osteogenesis imperfecta 237 Percutaneous endoscopic 120
Osteomalacia, severe 190 gastrostomy (PEG) feeding 148 complications of 121
Osteomyelitis 254 Perform gait examination 188 diagnostic criteria for 120
Osteoporosis 75 Perform transthoracic Polydactyly 269
prevention 213 echocardiography 15 Polyhydramnios, pregnancy with
Ovarian cysts, large 125 Peripheral cyanosis 73 125
Overriding scapula 179 Peripheral enthesitis 226 Polyradiculopathy 252
Peripheral eosinophilia 61 Pontine infarction/tumours 164
P Peripheral hand nerves 155 Poor vision, cause of 177
Pacemaker, permanent 44 Peripheral nerve Porphyria cutanea tarda 97
Paget’s disease 237, 238, 239, 240 involvement 160 Portal vein thrombosis 124, 125
aetiology of 239 of hands, examination of 153 Potassium-aggravated myotonia
complications of 239 Peripheral neuropathy 148, 188 177
Palmar erythema 53, 73, 73, 120, causes of 149, 149 Precordium
221 gait 189 examination 7
Palpation 215 Peritoneal dialysis 92 palpation of 10
Pancoast lesion 53, 54 catheter 93 Predominant valve 23
Pancoast tumour 53, 72 see also Periungual erythema 217 Predominantly motor neuropathy
Superior sulcus tumour Peroneal nerve paralysis 148 150
signs of 72 Persistent weakness 166 Predominantly sensory neuropathy
Pancreas 101, 104 Pes cavus 136 150
Paper-money skin 94, 96 deformity 145 Pretibial myxoedema 197, 199, 199
sign 97 Phalen’s sign 153, 154, 157, 158, Primary biliary cirrhosis 102
Papillitis 140, 261 202, 217 diagnostic criteria for 103
Papilloedema 139, 140, 268, 268 Phenytoin 128, 170 symptoms of 102
causes of 268 Pierre–Marie–Bamberger treatment of 103
fundoscopic findings in 268 syndrome 81 Primary myelofibrosis (PMF) 117
Paraneoplastic lung cancer 150 Pinkish-purple cheeks 13 prognosis of 118
Paraneoplastic ovarian cancer 150 Pinprick sensation 139 Prognathism 203
Paraneoplastic syndrome 81, 171 Pirfenidone 62 Prolactin 260
Paraparaesis and sensory ataxia Pistol shot 17 Proliferative diabetic retinopathy
138, 144 sign 18 see also Traube’s sign (PDR) 264, 265
Paraplaegia 240 Pitting leg oedema 125 Prophylactic antibiotics 99, 126
treatment for 240 Pitting oedema 54, 89 Prophylaxis 49
Parasagittal cerebral neoplasms Pitting pedal oedema 125 Prostate cancer 80
140 absence of 124 Prosthetic heart valve 26
Parasagittal meningioma 138 Pituitary tumours 205 types of 26
Parasites 124 Plethoric face 120 Pruritus, management of 103
Parathyroid hormone (PTH) 211 Pleural effusion 66 Pseudoacromegaly 205
Parkinson’s disease 182, 183, 183, Pleural thickening 66 Pseudobulbar palsy 192
184, 189, 191 causes of 69 Pseudo-Cushing’s syndrome 208
284 Index

Pseudohypoparathyroidism (PHD) Renal crisis, treatment of 229 Sacubitril 37

209, 210, 210, 211 Renal cysts 269 Salt and pepper skin rash 219
Pseudomembranous colitis 112 Renal disease 114 Sarcoid lesions 53
Pseudomonas aeruginosa 65 development of long-term 242 Sarcoidosis 37, 59–61, 94, 128, 140
Pseudopseudohypoparathyroidism Renal function test (RFT) 42, 98 Saturday night palsy 158
211 Renal transplant 88, 111, 114 Scanning dysarthria 191
Pseudoxanthoma elasticum 237 diagnosis of 112 Scapulothoracic arthrodesis 180
Psoriatic arthritis 219-221 surgery, scar of 111 Scars 236 see also Paper-thin scars
Psoriatic arthropathy 215 Renal transplantation Schober test, modified 225
severe 215 complications of 113 Scissoring gait 189
Psoriatic rash 215 contraindications of 113 Sclerodactyly 215
Ptosis 172, 185, 269 prognosis in 113 Scleroderma 53, 214
bilateral 171 Respiratory cases 53 gastrointestinal manifestations
partial 186 Respiratory failure 62 of 229
causes of 186 Respiratory muscle pulmonary complications of
Puddle sign 125 function 172 229
Pulmonary complications 97, 122 strength 146 renal crisis 228
Pulmonary embolism 62 Respiratory system 181 Sclerosis, primary lateral 147
Pulmonary hypertension (PHT) 13, Retinal detachment 257 Scotoma 258
39, 62 Retinal telangiectasia 180 Sensations, test for 157
signs of 29 Retinitis pigmentosa 269, 269 Sensorimotor neuropathy 151
vasodilator drugs for 230 prevalence of 269 Sensorineural deafness 114
Pulmonary oedema 7, 59 prognosis for 270 Sensory ataxia 135, 138, 145, 188
Pulmonary valve 31 symptoms caused by 269 causes of 189
Pulse oximetry, value of 77 vision in 270 Sensory neuropathy 143, 251
Pulseless disease 230 Retinopathy 81 Serum
Pump thrombosis 45 Retrobulbar neuritis 140, 261 adrenocorticotropic hormone
Pupil 139, 258 Rheumatic fever, prevention of 15 level 208
dilated 262 Rheumatic heart disease 14 ascites albumin gradient
Purpuric rash 150 Rheumatoid arthritis (RA) 57, 67, (SAAG) 124
Purse-lip breathing 74 206, 216, 219 erythropoietin level 120
mechanism of 74 Rheumatoid factor (RF) 61 precipitins 61, 62
Rheumatoid hands 220, 221 testosterone 177
Q Rheumatoid lung disease 53 Shawl sign 217, 219
Rheumatoid nodules 218, 221 Short neck and obesity 210
Queen square type 4
Rheumatoid pleural effusion 68 Short stature 210, 269
Quincke's sign 18
Rheumatological disorders 219 Shoulder girdle
Right eye, poor vision in 233 and scapula 179
R Right internuclear muscles, wasting of 178
Radial nerve injury ophthalmoplaegia 141 Shy–Drager syndrome 184
low 159 Right partial ptosis 161 Sicca syndrome 96, 102, 229
very high 158 Riluzole 148 management of 103
Radial nerve palsy 158 Rinne’s test 162 Sickle cell anaemia 211
Radioactive iodine 201 Rivaroxaban 34 Silicosis 58, 59
therapy 201 Rocker bottom foot 254 Silver-wire appearance 263
Radioiodine ablation 200 Romberg’s sign 134, 136, 139, 145, Sinus rhythm 34
Ramsay–Hunt syndrome 161, 164 188, 189 Situs inversus 63
Ranibizumab 266 Roth spots 47 Six-minute walking test 43
Raynaud’s phenomenon 60, 229 Sixth nerve palsy, causes of 164
Recurrent arm numbness 33 Sjögren's syndrome 63, 140, 229,
S
Red eye 214 261
Refsum’s disease 270 Saccharopolyspora rectivirgula 60 Sjögren’s disease 58
Regurgitant murmur, development Sacroiliac joint tenderness, test Skin 101
of abnormal 27 for 225 examination 236
Renal agenesis 213 Sacroiliitis, without 221 hyperextensibility 236
 Index 285

hyperpigmentation of 80, 100 Sudden death 25 causes of mortality in 108

with oral thrush 206 Sulfasalazine 223 face 88
Small hand muscles 160 Superior vena cava 78 major 106, 107
causes of unilateral wasting obstruction 77, 78 varices 88
of 160 causes of 78 Thalassaemic face 107
Small muscle syndrome 77 Thiamine deficiency 144, 150
unilateral wasting of 160 Supraclavicular lymph nodes 128 Third nerve palsy
wasting, unilateral 54 Supraclavicular nodes, left 128 causes of 163
Smoking, history of 244 Supranuclear palsy, progressive right 161
Snellen chart 4 184 Thoracotomy scar 9
Snellen eye chart 257 Swan neck deformity 221 left 56
Sotos syndrome 205 Sweat chloride test 64 Thrombocytopaenic purpura 240,
Spastic paraparaesis 135, 136, 138, Syncope 24 241
139, 146, 189 Syndrome of inappropriate anti- Thrombocytosis, essential 118
causes of 138, 189 diuretic hormone production Thromboembolism, recurrent 234
gait 189 (SIADH) 81 Thrombophilia 272
Speech Synovial thickening 221 Thrombopoietin receptor agonist
abnormal 190 Synthetic disaccharide 98 99
abnormalities, common 191 Syphilis 140, 192, 253 Thumb
Spider angiomata 97 Syphilitic aortitis 18 abduction, testing for 157
chest for 89 Syringobulbia 166 sign 233, 234
Spinal stenosis 239 Systemic complications 47 Z deformity of 221
paraplaegia 239 Systemic corticosteroids, Thymoma 78
quadriplaegia 239 indications of 243 Thymus hyperplasia 174 see also
Spinal surgery 226 Systemic disorders 41 Thymoma
Spinocerebellar ataxia 170 Systemic lupus erythematosus Thyroid 101
Spironolactone 38 (SLE) 14, 53, 116, 140, 206, 261 cartilage 74
Spleen, functions of 116 Systemic mastocytosis 118 disorders 41
Splenic irradiation 119 Systemic sclerosis 58, 214, 216, function test (TFT) 42, 101
Spondylitis 221 219, 219, 227, 229 gland examination, steps for 198
Spontaneous bacterial peritonitis calcinosis with 228 nodule 202
(SBP) 88 Systolic anterior motion (SAM) 24 ophthalmopathy 201
diagnose 126 Systolic murmur 11, 27 proptosis in 201
prophylaxis 127 Thyroid-stimulating
Squamous cell type 81 hormone (TSH) 260
Squirrel-like face 107 T immunoglobulin 199
Staphylococcus Tabes dorsalis 136, 138, 143, 144, Thyrotoxicosis 34
aureus 46, 65 253, 254 causes of 199
epidermidis 46 diagnosis 144 Tics 193
Stenosis, functional 30 suspected 139 Tinel’s sign 154, 157, 158, 202, 217
Stenotrophomonas maltophilia 65 Tachycardia 197 positive 153
Steppage gait, high 189 Takayasu’s arteritis 230, 231, 231, TNM staging system 82
Steroids 173, 174, 223, 266 232 Toe amputation 251
use of 208 Takayasu’s disease 231 Tolosa–Hunt syndrome 162, 164
Stomping gait 189 see also Tall stature 203 Tonic pupil 262
Sensory ataxic gait Tardive dyskinesia 185, 193 Tophaceous gout, chronic 216
Streptococcus Teeth, wide spacing of 203 Total hip arthroplasty 226
bovis 47, 48 Telangiectasia 214 Tracheal tug 74
viridans 46 Temporal haemianopia 260 Transcatheter aortic valve
Stroke 192 Tense ascites 125 replacement (TAVR) 22
volume, reduced 13 Teprotumumab 202 Transjugular intrahepatic
Strongyloidiasis 124 Terminal ileum diseases 143 portosystemic shunt (TIPS) 98
Subluxated lens 233 Tetraparesis 146 Transplant rejection, types of 113
Sudden cardiac death 24 Thalassaemia 104, 107, 109 Trauma 211
286 Index

Tremor 193 Usual interstitial pneumonia (UIP) 61 causes of 142

Trendelenburg’s gait 190 Uveitis 53, 214 see also complications of 143
Trendelenburg’s sign 190 Ankylosing spondylitis neurologic manifestations of
Treponema pallidum 144 143
Tricuspid and mitral area 6 V Vitreous haemorrhage 257
Tricuspid valve 20 von Recklinghausen’s disease 247,
Vaginal delivery 49 see also
Trigger finger 221 248
Caesarean delivery
Trochlear nerves 162 V-sign 217, 219
Valve
Tuberculosis (TB) 53, 59
disease 18
Tumour 164, 268 W
dysfunction, risk of 28
and foreign body 63
Valvotomy 22 Waddling gait 190
Turner syndrome 211, 212
Valvular heart disease 22, 36 Walking happily 170
clinical features of 213
Vancomycin 48 Warfarin 28
diagnosis 212
Vasculitic rash 150 related bleeding 27
male version of 213
Vasculitis 149, 254 Warm sweaty hands 197
Typical laser burn 266
type of 241 Weakness
Velcro sound 59 and fatigue, causes of 172
U Venous pulsation, loss of 268 type of 148
Uhthoff’s phenomenon 261 Ventricular arrhythmia 25 Weber’s test 162
Ulnar deviation of hand 221 Ventricular septal defect 12, 28 Wernicke’s dysphasia 191
Ulnar nerve palsy 155, 158, 158 Venus, dimples of 225 Wernicke’s encephalopathy 144, 168
Unicuspid valve 20 Vincristine 149 West register street 169, 170
Unilateral enophthalmos 72 Viral hepatitis 95 Wheezy chest 82
Unilateral fibrosis, clinical signs of 71 Viral hepatitis differential diagnoses of 83
Unilateral pulmonary fibrosis, B 94 Whispering pectoriloquy 70
differential diagnosis of 71 C 94 Whooping cough 63
Upper limbs 181 Viral infections 261 Wilson’s disease 94, 95, 98, 104,
Upper lobe Virchow’s lymph nodes 128 106
collapse 72 Visual acuity 257 Worsen Grave’s ophthalmopathy
consolidation 72 Visual defects, different 259 201
fibrosis, causes of 72 Visual disturbances 33 Wrist
lung consolidation, signs of Visual field drop deformity 156
right 79 abnormalities 258, 259 joint 182, 183
Upper motor neuron examination 258, 261 sign 233, 234
facial palsy 164, 165 test 258
lesions 166 Visual neglect 258 X
Urinary bladder catheter 169 Vitamin
Xanthelasma 90
Urinary tract infection (UTI) 109 B12, doses of 143
Urinothorax 67 E deficiency 142
Ursodeoxycholic acid 103 Vitamin B12 deficiency 135, 138, Y
Usher syndrome 270 139, 142 Yellow nail syndrome 67, 68, 68