Short Cases in Clinical Exams of Internal Medicine (PDFDrive)
Short Cases in Clinical Exams of Internal Medicine (PDFDrive)
Short Cases in Clinical Exams of Internal Medicine (PDFDrive)
1. Cardiovascular Cases 1
How to Examine a Patient with Heart Disease in the
Clinical Examination? 7
Important Clues Regarding Cardiovascular Cases in the
Clinical Examination 5
Mitral Stenosis 6
Mitral Regurgitation 8
Aortic Regurgitation 10
Aortic Stenosis 12
Patient with a Prosthetic Heart Valve 14
Ventricular Septal Defect 7 6
Eisenmenger Complex 17
Atrial Septal Defect 7 8
Dextrocardia 79
Atrial Fibrillation 20
Infective Endocarditis 27
2. Respiratory Cases 26
How to Examine the Respiratory System? 26
Bilateral Basal Crackles 28
Idiopathic Pulmonary Fibrosis and Interstitial Lung Disease 29
Bronchiectasis 31
Cystic Fibrosis 32
Dullness at the Lung Base 33
Pleural Effusion 34
Pneumonectomy/Lobectomy 36
Unilateral Lung Fibrosis (Post-tuberculous) 37
Chronic Obstructive Pulmonary Disease 37
3. Abdominal Cases 41
How to Examine the Abdomen? 4 1
Chronic Liver Disease 45
Hemochromatosis 50
Primary Biliary Cirrhosis 5 7
Jaundice 52
Thalassemia Major 56
Adult Polycystic Kidney Disease (APKD) 57
Renal Transplant 59
Hepatosplenomegaly 62
xiv Short Cases in Clinical Exams of Internal Medicine
Massive Splenomegaly 62
Hepatomegaly without Splenomegaly 63
Primary Myelofibrosis 63
Polycythemia Vera 66
Ascites 67
Liver Transplant 72
4. Neurology Cases 76
How to Perform a Neurologic Examination of the Lower
(or Upper) Limbs? 76
Common Lower Limb Neurologic Cases 78
Flaccid (Lower Motor Neuron) Paraparesis 78
Spastic Paraparesis 79
Multiple Sclerosis 82
Subacute Combined Degeneration of the Cord
(B12 Deficiency) 84
Tabes Dorsalis 85
Friedreich's Ataxia 86
Motor Neuron Disease 86
Peripheral Neuropathy 88
Hereditary Sensorimotor Neuropathy
(Charcot-Marie-Tooth) 97
Guillain-Barre Syndrome 92
Cranial Nerve Palsies 93
Third Cranial Nerve Palsy 94
Sixth Cranial Nerve Palsy 96
Lower Motor Neuron Facial Palsy 97
Hypoglossal Nerve Palsy 98
Internuclear Ophthalmoplegia WO
Cerebellar Syndrome 707
Myasthenia Gravis 703
Myotonic Dystrophy 706
Parkinson's Disease 7 08
Ptosis 7 70
Homer’s Syndrome 777
Index 173
How to Present your Findings
to the Examiners?
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 pleasant gentleman and a female patient as 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 definitely 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 have a doubt as to what the
examiner means by the question, do not just give any answer, simply request the
examiner politely to repeat or rephrase the question.
1
Cardiovascular Cases
VA V
FIGURE 1.1 Finger clubbing and splinter hemorrhage in a patient with infective
Cardiovascular Cases 3
m
wr
FIGURE 1.3 Pectus excavatum
• Feel for the apex beat; determine its location and character. Feel for a
parasternal heave, thrill and palpable second heart sound.
• 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. First
concentrate on the Erst and second heart sounds. Determine whether
they are normal in intensity, muffled or loud. Check whether the splitting
of second heart sound is normal wide, or fixed. Once you hear a murmur,
determine the place in which you hear the murmur at 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
be due to 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 mitral stenosis then ask the patient to sit forward, breath
out and hold breath to examine for the murmur of aortic regurgitation. Listen
carefully over the left axilla for radiation of the mitral regurgitation murmur
4 Short Cases in Clinical Exams of Internal Medicine
1
FIGURE 1.4 Pectus carinatum
FIGURE 1.5 Pitting edema of the legs {observe also the presence of diabetic dermopathy)
and over the carotids in the neck for the radiation of the murmur of aortic
stenosis.
• Finish your examination by listening to the lung bases and feeling for pitting
pedal edema (Figure 1.5). Remember during die examination for pitting
edema 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.
Cardiovascular Cases 5
»
6 Short Cases in Clinical Exams of Internal Medicine
• If you do not 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.
• Remember that the indications for infective endocarditis prophylaxis in
valvular heart disease have been modified recently.
MITRAL STENOSIS
Common Pitfalls
• Candidates fail to recognize that the patient has stroke due to systemic
embolization.
• Candidates fail to recognize signs of infective endocarditis.
• Candidates miss the presence of atrial fibrillation (AF).
• Candidates find a displaced apex beat and do not think of other coexistent
valvular lesion aortic regurgitation (AR)/mitral regurgitation (MR).
Examiner Instructions
• Examine this patient’s cardiovascular system
• Examine this patient’s precordium
• Listen to this patient1s heart
Candidate
Well, this gentleman has features to suggest mitral stenosis as evidenced by a low
pulse volume, tapping apex, loud SI, opening snap and mid-diastolic rumbling
murmur. There were no signs to suggest infective endocarditis or pulmonary
hypertension.
Examiner: Why should the pulse volume be 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 1.2).
Examiner: Why is SI 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 SI 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 mav becomes loud if there is pulmonarv
Cardiovascular Cases 7
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 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 mitral stenosis; 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 (For example, due to pulmonary hypertension).
Variation with respiration may help in differentiation.
Examiner: Is opening snap pathognomonic for MS?
Candidate: No. It can be heard in tricuspid stenosis and left atrial myxoma.
[Remember: In the examination opening snap is always due to mitral stenosis).
Examiner: In which condition will you not be able to hear presystolic
accentuation of the MS murmur?
Candidate: If the patient has atrial fibrillation.
Examiner: What are the factors that indicate the severity of MS?
Candidate:
• A short S2-OS interval
• Signs of pulmonary arterial hypertension
• Long mid-diastolic murmur
• Mitral valve area less than 1.5 cm2.
Examiner: What are the causes of MS?
Candidate:
• Rheumatic heart disease
• Congenital MS/Lutembacher's syndrome atrial septal defect (ASD) with
mitral stenosis (MS)
• Mitral annular calcification [For example, in patients with end-stage renal
disease (ESRD)]
• Systemic lupus erythematosus (SLE).
Examiner: What are the complications of MS?
Candidate:
• Systemic embolization
• PA hypertension
• Infective endocarditis
• Hemoptysis.
8 Short Cases in Clinical Exams of Internal Medicine
MITRAL REGURGITATION
Common Pitfalls
• Candidates hear radiation of a systolic murmur to the axilla and fail to
diagnose MR.
• Candidates confuse harsh AS with MR.
Examiner Instructions
• Examine this patient's cardiovascular system.
• Examine this patient’s precordium.
• Listen to this patient’s heart.
Candidate
This patient has brisk pulse, displaced apex beat, systolic thrill in the mitral
Cardiovascular Cases 9
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 ischemic 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 severity of MR?
Candidate:
• Acute MR (from acute coronary syndrome)
• 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 dimension(LVESD) >40 mm (LV dilatation).
Examiner: In the presence of coexisting MS, how would you determine the
predominant valvular lesion?
Candidate: Presence of displaced apex beat; high volume pulse and muffled first
heart sound 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% [ejection fraction (EF) should be reasonable to go for surgery]
• Asymptomatic severe MR with one of the following:
- LVEF between 30% and 60%
- LVESD < 40 mm
- Development of AF
- Development of pulmonary hypertension
10 Short Cases in Clinical Exams of Internal Medicine
— •
Examiner: How would you manage this patient?
Candidate:
• Serial echocardiography to follow LVEF
• Afterload reduction by diuretics and nitrates
• Infective endocarditis prophylaxis is not routinely recommended in mitral
and aortic rheumatic heart disease (RHD) except in high-risk groups (see MS)
• Treat AF.
AORTIC REGURGITATION
Common Pitfalls
• Failure to recognize clinical features of Marfan’s syndrome or ankylosing
spondylitis in a patient with AR
• Failure to diagnose AR in a patient with dancing carotid pulsation
• Failure to examine for peripheral signs of AR
• Missing AR murmur as breath sound particularly when there is another
valvular lesion.
Examiner Instructions
• Examine this patient's cardiovascular system
• Examine this patient's precordium
• Listen to this patient’s heart
Candidate: This patient has a collapsing pulse, there is a dancing carotid
(Corrigan’s sign) and a blowing early diastolic murmur heard best at the left
second intercostal space, which suggests AR.
Examiner: What are the causes of AR?
Candidate:
• Valve disease: Rheumatic heart disease— Infective endocarditis— Congenital
bicuspid valve
• Aortic root disease: Marfan’s syndrome— Long standing hypertension—
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 at the third and fourth
intercostal space of the left sternal border, while that due to aortic root disease is
heard best at 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 a functional stenosis resulting from
the larere volume nf hlooH nassinv throimh the aortic valvp because of AR
Cardiovascular Cases 11
AORTIC STENOSIS
Common Pitfalls
• Failure to differentiate aortic sclerosis from aortic stenosis
• Misdiagnosing aortic stenosis (AS) MR in a patient whose murmur radiates to
the neck (misinterpretation of the Gallavardin phenomenon)
• Failure to look for AR as it is commonly associated with AS (in 80% of cases)
Examiner Instructions
• Examine this patient's cardiovascular system
• Examine this patient’s precordium
• Listen to this patient’s heart
Candidate
This patient has a displaced heaving apex beat, with a slow rising pulse (pulsus
parvus tardus), S4 and a harsh ejection systolic murmur which is heard best
in the right second intercostal space and radiates to the neck. I could hear the
same murmur which was a bit softer at the apex in the mitral area but there was
no radiation to the axilla, I would suggest pure AS (without coexistent MR) -
Gallavardin phenomenon. There are no signs of heart failure.
Examiner: What do you mean by Gallavardin phenomenon?
Candidate: An aortic stenosis murmur sometimes has two components, a noisy
harsh component which 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 maybe mistaken for MR.
Cardiovascular Cases 13
Common Pitfalls
• Failure to see scar particularly sub-mammary scars in females.
• Candidate can not differentiate mitral from aortic valve prosthesis.
• Failure of the candidate to recognize signs of IE.
Examiner Instructions
• Examine this patient's cardiovascular system
• Examine this patient’s precordium
• Listen to this patient's heart
Cardiovascular Cases 15
Candidate
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 heart failure orlE.Hehas
a metallic mitral valve, which seems to be functioning well.
Examiner: What are the different types of prosthetic heart valves?
Candidate:
• Metallic:
- Caged ball valve: For example, Starr-Edwards valve
- Tilting disc valve: For example, Medtronic Hall valve
- Bileaflet valves: For example, 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?
Candidate: On-X mechanical valves are made purely of carbon which makes
them having 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 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 embolization
• Microangiopathic hemolysis
• Anticoagulation-related bleeding.
Examiner: If this patient presents with anemia, name 2 possible causes?
Candidate: Warfarin-related bleeding or microangiopathic hemolysis due to
destruction of red blood cells (RBCS) on the metallic valve.
Examiner: What are the advantages and disadvantages of the metallic and
bioprosthetic valves?
16 Short Cases in Clinical Exams of internal Medicine
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-year-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?
• Patient counseling and education
• Complete blood count (CBC), bilirubin and urine microscopy
• Echocardiography to assess valve function
• Anticoagulation (warfarin is recommended)
• IE prophylaxis: Patients with prosthetic heart valves are high risk group and
should receive IE prophylaxis (see infective endocarditis section)
• Counseling 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 is 2-3; mitral valve INR is 2.5-3.5.
Examiner: When would you consider the addition of Aspirin to Warfarin?
Candidate: Those patients with high risk factors such as atrial fibrillation, venous
thromboembolism, left ventricular dysfunction, and a hypercoagulable state.
Examiner: How would you manage anticoagulation for major surgical
procedures?
Candidate: Warfarin is stopped 5 days prior to 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
24hrs after surgery following confirmation of hemostasis.
Common Pitfalls
• Failure to recognize signs of Down’s syndrome
Cardiovascular Cases 17
Examiner Instructions
• Examine this patient’s cardiovascular system
• Examine this patient’s precordium
• Listen to this patient's heart and tell me the diagnosis.
Candidate
This patient has a loud harsh holosystolic murmur associated with a systolic
thrill heard best in the left 4th intercostal space. There are no signs of pulmonary
hypertension and no cyanosis. The patient has VSD.
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 the murmur.
Examiner: What are the complications of VSD?
Candidate:
• Pulmonary hypertension
• Polycythemia
• Eisenmenger complex.
Examiner: How would you manage this patient?
• Serial echocardiography
• Cardiac catheterization to quantify the net shunt
• IE prophylaxis is not indicated if no cyanosis and no previous IE
• Diuretic therapy and ACEI
• 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
• QP/QS >1.5 with PAP < two-third 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 closed (very rare after the age of 4 years) or
the patient has developed Eisenmenger complex.
18 Short Cases in Clinical Exams of Internal Medicine
EISENMENGER COMPLEX
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.
Examiner Instructions
• This patient complains of exertional dyspnea, please listen to his heart
• Examine this patient’s heart.
Examiner: What are the types of ASD?
Candidate:
• Ostium secondum: 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.
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.
Examiner: Which murmur mimics that heard in ASD 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.
Cardiovascular Cases 19
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 (mitral stenosis murmur) this
is called "Lutembacher syndrome" which is a combination of ASD and mitral
stenosis.
Examiner: What are the complications of ASD?
Candidate:
• Pulmonary hypertension
• Eisenmenger syndrome
Examiner: How would you manage this patient?
Candidate:
• Echocardiography to assess the size of the shunt and the presence of
pulmonary hypertension
• Spontaneous closure in adults is unlikely (commonly happen in childhood)
• Surgical closure is indicated in patients with significant shunts and patients
who develop pulmonary hypertension and right ventricular overload.
DEXTROCARDIA
Common Pitfalls
• Failure to auscultate over the right chest when candidates cannot hear heart
sounds on the left
• Failure to recognize associated features of Kartagener’s syndrome such as
clubbing due to bronchiectasis
• Examiner instructions
• Examine this patient’s cardiovascular system
• Examine this patient’s precordium
• Listen to this patient's heart.
Candidate
This patient has dextrocardia evidenced by an absent apex beat and heart sounds
over the left side of the chest, which can be heard clearly over the right side. He
also has finger clubbing, so I would like to examine the chest and ask him a few
questions to confirm the diagnosis of Kartagener’s syndrome.
Examiner:W hat conditions are associated with dextrocardia in adults?
Candidate:
• Kartagener's syndrome: Characterized by the triad of situs inversus, paranasal
sinusitis, and bronchiectasis
• Congenitally corrected transposition of the great arteries (TGA)
20 Short Cases in Clinical Exams of Internal Medicine
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
heats.
Examiner Instructions
• Perform a general examination
• Examine the heart
• Examine this patient’s pulse.
Examiner: What are the causes of AF?
Candidate:
• M: Mitral stenosis
• A : Alcohol
• T : Thyrotoxicosis
• C : CAD
• H: Hypertension
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 loneAF?
Candidate:
• Paroxysmal AF: Self-terminating
• Persistent AF: AF that fails to terminate within 7 days
• Permanent AF: AF that lasts for more than one year and failed cardioversion
or not attempted
• Lone AF: AF occurring in the absence of structural heart disease
Examiner: How would you manage this patient?
Cardiovascular Cases 21
Candidate:
• Treat the underlying cause, e.g. thyrotoxicosis, mitral stenosis, alcohol
• Rate control: Beta-blockers, diltiazem, digoxin, amiodarone
• Rhythm control: Amiodarone, flecainide
• Anticoagulation: Warfarin or the new oral anticoagulants: Dabigatran,
rivaroxaban, apixaban.
• AF ablation: Antrum pulmonary vein ablation, pulmonary vein antrum
isolation, circumferential ablation.
• Cardioversion: If AF < 48 horns and low risk for stroke
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 CHA2 DS2-Vasc score
C (CHF points 1), H (hypertension points 1), A2 (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.
INFECTIVE ENDOCARDITIS
Common Pitfalls
• Missing the signs of IE in patients with valvular lesions.
• Failure to recognize the presence of stroke in a patient with IE.
Examiner Instructions
• Examine the cardiovascular system.
• Have a look at this patient's hands and then examine the heart.
Examiner: What are the signs of IE? And what are the mechanisms behind
them?
Candidate:
• Splinter hemorrhages (vascular phenomenon "septic emboli”)
• Janeway lesions (vascular phenomenon "septic emboli")
• Roth spots (immune complex phenomenon)
• Osier’s nodes (immune complex phenomenon)
• Finger clubbing (Figure 1.1)
Examiner: What organisms cause IE?
Candidate:
• Rtrentnc.nc.cus viridans
22 Short Cases in Clinical Exams of Internal Medicine
• Staphylococcus epidermidis
• Enterococcus
• HACEK group (Hemophilus 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
- 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 prior to antibiotic use unless the patient is severely
ill
• Use strict sterile technique
• Minimum number of cultures 3
• 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 criteria are 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: 2 major, 1 major and 3 minor or 5 minor.
• Possible IE:1 major and 1 minor or 3 minor criteria.
Examiner: What are the complications of IE?
Candidate:
• Local complications:
Cardiovascular Cases 23
- Heart failure
- Valve dysfunction and destruction
• Systemic complications:
- Systemic embolization leading to stroke, cerebral abscesses, septic
pulmonary emboli, disseminated abscesses in other organs and mycotic
aneurysms
- Immune complex phenomena: Glomerulonephritis, Osier’s nodes and
Roth spots
- Severe sepsis or septic shock.
Examiner: What do you mean by mycotic aneurysms?
Candidate: Mycotic aneurysms result from septic embolization 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:
• Sensitivity of TTE is about 60%
• Sensitivity of TEE > 90%
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 vegetation's on echo
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 heart failure 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 embolization
• Very large vegetation > 15 mm
24 Short Cases in Clinical Exams of Internal Medicine
FURTHER READING
1. Asopa S, Patel A, Khan O, et al. Non-bacterial thrombotic endocarditis. Eur J
Cardiothorac Surg. 2007;32(5):696-701.
2. Giles TD, Martinez EC, Burch GE. Gallavardin phenomenon in aortic stenosis. A
possible mechanism. Arch Intern Med. 1974;134(4):747-9.
3. 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(19):2369-
413.
4. Harrison J, Prendergast B, Habib G. The European Society of Cardiology 2009
guidelines on prevention, diagnosis and treatment of infective endocarditis: key
messages for clinical practice. Editorial. Pol Arch Med Wewn. 2009;119(12):773-6.
5. 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(4):633-8.
6. Lip GY, Nieuwlaat R, Pisters R, et al. 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,T37(2):263-72.
7. Nishimura RA, Otto CM, Bonow RO, et al. 2014 AHA/ACC guideline 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(l):el-el32.
8. Prystowsky EN, Padanilam BJ, Fogel RI. Treatment of Atrial Fibrillation. JAMA. 2015;
314:278-88.
9. 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(4):1202-
10.
10. Krishnan S, Eslick GD Streptococcus bovis infection and colorectal neoplasia: a
meta-analysis. Colorectal Dis. 2014;16(9):672-80.
11. Vahanian A, Alfieri O, Andreotti F, et al. Guidelines on the management of valvular
heart disease (version 2012). Joint Task Force on the Management of Valvular Heart
Disease of the European Society of Cardiology (ESC); European Association for
Cardio Thoracic Surgery (EACTS), Eur Heart J. 2012;33(19):2451-96.
12. Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA 2008 Guidelines 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(23):e714-833.
13. 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 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.
mn 1 -1 r' fi rT.i TOO
2
Respiratory Cases
■
FIGURE 2.1 Small muscle wasting in the hand
• In the eyes look for features of Horner’s syndrome such as ptosis, meiosis
and enophthalmos. Look also for conjunctival pallor and the presence of
episcleritis (may suggest rheumatoid) or uveitis (ankylosing spondylitis).
• Examine the mouth for cyanosis
• Examine the neck for lymphadenopathy
• Examine the jugular venous pressure (JVP) (cor pulmonale)
• Examine the legs for pitting edema (may be left till the end, but should not
be forgotten). Remember when examining for pitting edema 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
• Followthe four steps of chest examination— Inspection, palpation, percussion
and auscultation.
• Inspection: Look for chest deformities such as pectus excavatum and
carinatum or kyphoscoliosis (see Figures1.3 and 1.4), asymmetry of the chest,
28 Short Cases in Clinical Exams of Internal Medicine
patients with cystic fibrosis have long lasting venous catheters (Hickman's line
or peripherally inserted central catheter (PICC) for repeated administration
of antibiotics. Presence of dilated veins over the chest may suggest superior
vena cava obstruction.
• There are four things you need to palpate for during chest examination
chest expansion, tactile vocal fremitus, position of the trachea and 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.
• If you find dullness at one lung base, perform tidal percussion immediately.
• During auscultation, concentrate first on the 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 quality
of crackles. Do not forget to listen for vocal resonance, it is more reliable than
vocal fremitus.
• It is important to make the patient feel comfortable during the chest
examination from the back. You may give the patient a pillow to put his/her
arms on while sitting on the bed.
• Do not forget to percuss and auscultate the lateral sides of the chest.
Common Pitfalls
• Failure to see Hickman line for long-term antibiotics in cystic fibrosis (CF).
• Diagnosing idiopathic pulmonary fibrosis (IPF) in a young patient.
Examiner Instructions
• Examine this patient's respiratory system
• Examine this patient's chest
• Listen to the chest.
Examiner: How would you differentiate crackles in bronchiectasis, lung
fibrosis and pulmonary edema?
Candidate
a In hrnnrhiprtnii<r Pmirsp and rhanap with rmiph
Respiratory Cases 29
• In pulmonary edema: Mostly fine or coarse, mid to late inspiratory and do not
change with cough
• In lung fibrosis: Fine, late inspiratory and do not change with cough (usually
Velcro crackles)
Examiner: Which crackles are heard during early inspiration?
Candidate:
• Crackles heard during early inspiration are indicative of airways disease, such
as chronic bronchitis and emphysema.
• Crackles heard duringlateinspirationare indicative ofparenchymal disorders,
such as pulmonary fibrosis, interstitial pneumonitis, and pneumonia
Examiner: Where do you examine for a right middle lobe abnormality?
Candidate: Ihe 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.
Examiner: What is the most common cause of interstitial lung disease (ILD)?
Candidate: Idiopathic pulmonary fibrosis is the most common cause.
Examiner: What are the diagnostic criteria for idiopathic pulmonary fibrosis
(IPF)?
Candidate: The three main diagnostic criteria are:
1. Exclusion of a known cause of ILD.
2. High resolution computed tomography (CT) scan criteria.
3. Pathologic criteria (lung biopsy).
Examiner: What do you knowabout the high-resolution computed tomography
(HRCT) findings in IPF?
Candidate:
• Honeycombing
• Bilateral, predominantly subpleural basal fibrosis
• Absence on HRCT of features that point to other etiology.
Examiner: What is the name given to the histopathologic appearance of a lung
biopsy in IPF?
Candidate: Usual interstitial pneumonia (UIP)
30 Short Cases in Clinical Exams of Internal Medicine
Examiner: What are the causes of pulmonary fibrosis with honeycombing (UIP
pattern) on 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 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 bronchoalveolar lavage (BAL) fluid, granuloma in the lung biopsy
specimens and peripheral eosinophilia can suggest it is methotrexate rather than
RA-related ILD. Presence of active RA and neutrophilic BAL suggest RA-related
ILD.
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
• Respiratoryfailure
Examiner: How would you manage this patient?
Candidate:
Investigations:
• High resolution CT chest
• Pulmonary function tests, arterial blood gas (ABG)
• 6 minute walk test
• Bronchoscopy with BAL
• Autoimmune work-up [rheumatoid factor (RF), anti-cyclic citrullinated
peptide (ACCP), ASCL-70, ENA]
• Hypersensitivity pneumonitis panel (serum precipitins)
• Surgical lung biopsy.
Treatment:
• Stop smoking
Respiratory Cases 31
BRONCHIECTASIS
CYSTIC FIBROSIS
Examiner: How would you diagnose cystic fibrosis?
Candidate:
• Clinical features, PFT, sputum culture and HRCT chest
• Two samples of sweat chloride > 60 mmol/L
• Genetic testing: Indications.
- Intermediate results of sweat chloride test (40-60)
- Family history of CF
- Pre-pregnancy
Examiner: What is the basic abnormality in CF?
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 resulting in 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:
hypopituitarism
Adrenal — —
insufficiency hypothyroidism pan
Common Pitfalls
• Failure to mention pleural thickening in the differential diagnosis
• Failure to observe pleural aspiration or biopsy scar
• Failure to observe thoracotomy scar suggestive of lobectomy or
34 Short Cases in Clinical Exams of Internal Medicine
Examiner Instructions
• Examine this patient’s respiratory system
• Examine this patient's chest.
The differential diagnosis of dullness at 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 hemidiaphragm
Signs: Dullness, decreased breath sounds, decreased vocal resonance and
fremitus.
• Consolidation
Signs: Dullness to percussion, decreased breath sounds, bronchial breathing,
increase vocal resonance, egophony and whispering pectoriloquy.
• Pleural thickening
Signs: Similar to pleural effusion.
Examiner: How would you differentiate an elevated hemidiaphragm from
other causes of dullness at lung base?
—
Candidate: By 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
PNEUMONECTOMY/LOBECTOMY
Common Pitfall
Missing the scar (particularly lateral thoracotomy scar) (Figure 2.3)
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 collapse in addition to presence of surgical scar)
Note: If you do not see the scar you may miss the diagnosis.
Most common causes in the exam:
• Pneumonectomy or lobectomy for lung cancer (in young patient surgery for
carcinoid)
• Old surgical treatment for TB
Respiratory Cases 37
Common Pitfalls
• Candidates do not suspect chronic obstructive pulmonary disease (COPD)
(emphysema) when there is diffuse reduction in breath sounds over the chest
• Attributing clubbing to COPD
• Failure to recognize the presence of Cor pulmonale
38 Short Cases in Clinical Exams of Internal Medicine
Examiner Instructions
• This patient complains from exertional dyspnea, examine his chest
• Examine the respiratory system.
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 COPD?
Candidate:
The new COPD staging depends on three factors:
1. Severity of symptoms (by CAT)
2. Degree of air flow limitation (using spirometry)
3. Frequency of exacerbations
• Stop smoking
• Bronchodilators with or without inhaled steroids (depending on the stage)
• Treat exacerbations
• Vaccination (influenza and pneumococcal)
• Long-term oxygen therapy (LTOT)
• Non-invasive ventilation
• Pulmonary rehabilitation
Examiner: What are the indications of LTOT in COPD?
Candidate:
• PaO, < 55 mm Hg or Spa02 < 88% on two occasions when patient stable
• Pa02 between 55-60 mm Hg or Spa02 88% with evidence of pulmonary
hypertension, cor pulmonale, or polycythemia (HCT > 55%)
Examiner: What are the spirometric findings in COPD?
Candidate:
• FEV1/FVC < 70%
• Irreversibility with bronchodilator use (increase in FEV1 < 12%)
• Decreased diffusing capacity of the lungs for carbon monoxide (DLCO)
• Evidence of air trapping (increase RV)
Examiner: How do you differentiate asthma from COPD on spirometry?
Candidate:
• Irreversibility of air way obstruction
• Decreased diffusing capacity of the lungs for carbon monoxide (DLCO)
Examiner: Is COPD a cause for finger clubbing?
Candidate: COPD per se is not a cause of finger clubbing. Presence of clubbing in
COPD patient should raise the suspicion of lung cancer or bronchiectasis.
Examiner: What is the best way to deliver 02 in acute COPD exacerbation and
why?
Candidate: Venturi masks are preferred because they permit a precise delivered
fraction of O, (24-60%)
Examiner: What value of pulse oxymetry corresponds to Pa02 of 60 mm Hg?
Candidate: Spa02 of 90% corresponds to Pa02 of 60 mm Hg
FURTHER READING
1. 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 randomised controlled trial. Lancet Respir
Med. 2014;2(7):527-38.
2. Globed strategy for the diagnosis, management and prevention of chronic obstructive
pulmonary disease. Updated 2013. Available from: www.goldcopd.org/uploads/
40 Short Cases in Clinical Exams of Internal Medicine
3. Light RW, MacGregor MI, Luchsinger PC, et al. Pleural effusions: the diagnostic
separation of transudates and exudates. Ann Intern Med. 1972;77:507-13.
4. Light RW. Diagnostic principles in pleural disease. Eur Respir J. 1997;10(2):476-81.
5. 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(6):788-824.
6. van der Doef HP, Kokke FT, van der Ent CK, et al. Intestinal obstruction syndromes
in cystic fibrosis: meconium ileus, distal intestinal obstruction syndrome, and
constipation. Curr Gastroenterol Rep. 2011;13(3):265-70.
3
Abdominal Cases
FIGURE 3.1 Spider angiomata over the shoulder may be missed if not properly exposed
FIGURE 3.5 Xanthelasma in a patient with jaundice may suggest primary biliary cirrhosis
44 Short Cases in Clinical Exams of Internal Medicine
FIGURE 3.7 Dilated veins over the abdomen (check for direction of blood flow)
fossa of a renal transplant), dilated veins and caput medusa. If dilated veins
seen, check the direction of blood flow (Figure 3.7). Look for the shape of the
umbilicus (everted or inverted) and hernial orifices
Before palpating the abdomen ask the patient if he/she has any abdominal
pain. Palpate the abdomen superficially and then for organomegaly and
minor splenomegaly
Percuss the abdomen for organomegaly and shifting dullness
T icten fnrhnwl onnnrtc rpnal anrl hpnatir hruit
Abdominal Cases 45
• Inform the examiner that you would normally perform genital examination
and rectal examination to complete the examination.
Common Pitfalls
• Failure to look for spider nevi above the nipple area
• Failure to observe increased skin pigmentation suggesting hemochromatosis
• Failure to mention primary biliary cirrhosis and autoimmune hepatitis in
women with chronic liver disease (CLD) or jaundice.
Examiner Instructions
• Examine this patient’s abdomen
• Examine the gastrointestinal system
Examiner: What is your diagnosis?
Candidate: This patient has stigmata of CLD in the form of spider nevi, palmar
erythema, paper-money skin and jaundice. Abdominal examination revealed
ascites and splenomegaly. He has CLD.
Examiner: What is the most common cause of chronic liver disease?
Candidate: Hepatitis C virus 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
• Cryptogenic
• Autoimmune hepatitis
• Primary biliary cirrhosis
• Hemochromatosis
• Wilson disease
• Alpha-1 antitrypsin deficiency
• Schistosomiasis
• Budd-Chiari syndrome
• Drug-induced liver disease, e.g. methotrexate, alpha methyldopa, amiodarone
• Sarcoidosis.
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
46 Short Cases in Clinical Exams of Internal Medicine
and the inferior vena cava) >10 mm Hg. Variceal hemorrhage develops when the
gradient exceeds 12 mm Hg.
Manifestations of portal hypertension include: Ascites, splenomegaly and
portacaval anastomoses (esophageal varices, gastric varices, anorectal varices).
Examiner: What are the mechanisms of anemia in CLD?
Candidate: Anemia in CLD can arise from various causes such as:
• Folate deficiency
• Hypersplenism
• Bleeding
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 least risk for hepatocellular
carcinoma?
Candidate: Wilson's disease.
Examiner: Which type of CLD rarely manifests with dermatologic stigmata of
CLD?
Candidate: NAFLD
Examiner: How would you assess the severity of CLD?
Candidate:
• The Child-Turcotte-Pugh Scoring System for Cirrhosis which uses the
following criteria:
- Encephalopathy
- Ascites
- Bilirubin
- Albumin
- Prothrombin time
• Model for end-stage liver disease (MELD) scoring system: Which uses serum
bilirubin, serum creatinine, and the INR to predict survival. Ihe modified
MELD (MELD-Na) incorporates serum sodium also. 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
• Paper-money skin
Abdominal Cases 47
Examiner: What are the clinical manifestations that suggest hepatitis C as the
cause of CLD?
Candidate:
• Cryoglobulinemia (Figure 3.8)
• Porphyria cutanea tarda
Examiner: What are the clinical features that suggest primary biliary cirrhosis
as the cause of CLD?
Candidate:
• Presence of xanthelasma
• Scratch marks of pruritus
• Presence of dry eyes and mouth (sicca syndrome)
Examiner: When do you see clinical jaundice?
Candidate: Jaundice, is usually recognizable 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 nevi specific for CLD? Why do they occur in CLD?
Candidate: Spider nevi commonly occur in the upper trunk, face and the neck
(above the level of the nipple) possibly because they drain into the superior vena
cava. The presumed mechanism is the high estrogen level in CLD due to reduced
FIGURE 3.8 Cryoglobulinemia in a patient with chronic liver disease from HCV
48 Short Cases in Clinical Exams of Internal Medicine
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.
HEMOCHROMATOSIS
Important Clues
Think twice before you diagnose hemochromatosis in women in the menstruating
or childbearing age in the exam. Usually menstruation protects against the
development of frank signs of hemochromatosis such as liver disease or
hyperpigmentation.
Common Pitfalls
Missing hyperpigmentation during the examination of a patient with CLD.
Examiner: Which organs are affected in hemochromatosis?
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 metacarpophalangeal (MCP) joints,
chondrocalcinosis and osteoporosis.
Examiner: What is “bronze diabetes"?
Candidate: A name given to the classic manifestation triad of hemochromatosis:
skin pigmentation, diabetes and cirrhosis.
Abdominal Cases 51
Important Clues
PBC patients in clinical exams are exclusively women in middle age or older 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 primary biliary
cirrhosis, polycythemia vera or cholestatic jaundice from another cause.
Common Pitfalls
• Failure to suspect PBC in a middle aged female patient with jaundice, itching
and/or stigmata of CLD
• Missing xanthelasmas (Figure 3.5)
• Failure to explain the cause of gritty sensations in eyes due to Sicca syndrome
52 Short Cases in Clinical Exams of Internal Medicine
JAUNDICE
Common Pitfalls
• Forgetting hemolysis as a cause of jaundice (particularly patients with
thalassemia and typical thalassemic facies)
• Missing scratch marks of itching (Figure 3.9)
Abdominal Cases 53
FIGURE 3.9 Scratch marks from severe itching in a patient with cholestatic jaundice. (In
females consider primary biliary cirrhosis)
Examiner Instructions
• Examine this patient's abdomen
• Have a look at this patient and proceed accordingly
• Examine the gastrointestinal system.
Examiner: Can you name a condition other than jaundice that gives yellow
discoloration of the skin?
Candidate: Carotenemia from excessive consumption of carotene-rich foods
such as carrots and sweet potatoes. Typically carotenemia starts in the palms
and soles and then spreads to the rest of the skin. Unlike jaundice the sclera are
spared.
54 Short Cases in Clinical Exams of Internal Medicine
- CHF
• Post-hepatic (cholestatic):
Extra-hepatic cholestasis:
- Gallbladder and biliary stones
—
- Tumors: Cholangiocarcinoma head of pancreas
- Sclerosing cholangitis
- Ascariasis
• Intrahepatic cholestasis:
- Primary biliary cirrhosis
- Alcohol
- Drugs
Abdominal Cases 55
- Sepsis
- NASH
- Infiltrative diseases: Sarcoidosis, TB, amyloidosis
- Dubin-Johnson syndrome
Examiner: How would you differentiate Dubin-Johnson syndrome from other
causes of conjugated hyperbilirubinemia?
Candidate: Dubin-Johnson syndrome is an autosomal recessive disorder
characterized by conjugated hyperbilirubinemia with normal liver enzymes and
liver function tests. Ihe 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
• Absence of splenomegaly and ascites (portal hypertension)
• Absence of stigmata of CLD.
Examiner: How helpful is ultrasound of the abdomen in investigating
obstructive jaundice?
Candidate: It is a simple and non-invasive investigation, which will identify a
dilated CBD suggesting extra-hepatic 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.
• Liver function tests: Total, direct and indirect bilirubin, INR, AST, 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 hemochromatosis
• Serum ceruloplasmin level, 24 hours urinary copper excretion for Wilson’s
disease
• Slit lamp examination for KF rings for Wilson's disease
• Alpha-1 antitrypsin level
• Magnetic resonance cholangiopancreatography (MRCP), endoscopic
retrograde cholangiopancreatography (ERCP), magnetic resonance imaging
(MRI)
• Cholestyramine for itching
• Treat the underlying cause.
56 Short Cases in Clinical Exams of Internal Medicine
THALASSEMIA MAJOR
Important Clues
• The typical patient with thalassemia major in clinical exams is a patient with
jaundice, hepatosplenomegaly and a classic thalassemic face.
• Hemolytic anemia should always be considered in the differential diagnosis
of jaundice with hepatosplenomegaly
• Thalassemic facies are an important clue to the diagnosis in the exam and are
easily missed by candidates
• Scars in the abdomen of a patient with thalassemia are either due to
splenectomy as a treatment for thalassemia or cholecystectomy due to
bilirubin stones (it may be a laparoscopy scar)
• Heart disease secondary to iron overload is the most important cause of
mortality in these patients.
Common Pitfalls
• Candidates frequently miss the typical thalassemic face of the patient
• Forget hemolytic anemia as a differential diagnosis of a patient with jaundice
and hepatosplenomegaly.
Examiner Instructions
• Examine this patient’s abdomen
• Look at this patient’s face and proceed accordingly
• What do you think is the cause of this patient's jaundice?
Examiner: What is the basic mechanism of beta-thalassemia?
Candidate: Beta-thalassemia is an autosomal recessive disease characterized
by defective synthesis of the beta chain in the Hb due to a genetic mutation in
chromosome 11.
Examiner: What are the complications of beta-thalassemia major?
Candidate:
• Anemia
• Iron overload from repeated blood transfusion
• Bone marrow expansion from ineffective erythropoiesis and erythroid
hyperplasia leading to skeletal deformities
• Gallbladder stones (bilirubin stones) from hemolysis
• Heart failure secondary to iron overload and anemia
• 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.
Abdominal Cases 57
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 thalassemia major?
Candidate: Nowadays splenectomy is rarely used in the treatment of thalassemia
major. This is because of the improvement in the transfusion management of
thalassemia 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: What is the most common cause of mortality in thalassemia major
patients?
Candidate: Cardiac complication of iron overload leading to heart failure and
arrhythmia.
Examiner: How would you manage this patient?
Candidate:
• Request CBC, hemoglobin electrophoresis, LFT
• Genetic and family counseling and screening
• US abdomen
• Echocardiography and ECG
• Repeated blood transfusion and use of iron chelating agents are the mainstay
therapy for thalassemia major
• Bone marrow transplantation can cure the disease.
Examiner: When would you start long-term blood transfusion therapy in
thalassemia 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 failure such as cardiac failure, edema
• Hb between 7 g/dL 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.
Common Pitfalls
• Misdiagnosing PKD as hepatosplenomegaly
• Failure to observe AV fistula
• Failure to feel a kidney transplant
58 Short Cases in Clinical Exams of Internal Medicine
Examiner Instructions
• Could you examine the abdomen of this patient with loin pain and tell me
what caused his pain?
• Examine this patient’s abdomen.
Examiner: How do you differentiate an enlarged kidney from splenomegaly?
Candidate:
• Unable to get above the swelling in case of splenomegaly (no space between
the spleen and the costal margin)
• Kidney is ballotable
• Presence of splenic notch
• Percussion note is dull above splenomegaly and resonant above enlarged
kidney due to the presence of the colon
• Both move with respiration.
Examiner: What are the possible causes of this patient’s loin pain?
Candidate:
• Cyst hemorrhage
• Nephrolithiasis
• Urinary tract infection (UTI).
Examiner: What is the mode of inheritance and the diagnostic criteria for
APKD?
Candidate:
Mode of inheritance is AD and the diagnostic criteria are:
• At least 2 cysts in 1 kidney or 1 cyst in each kidney in an at-risk patient younger
than 30 years
• At least 2 cysts in each kidney in an at-risk patient aged 30-59 years
• At least 4 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 hemorrhage
• Symptoms suggesting an intracranial aneurysm
• High-risk occupations such as bus drivers and air pilots
• Before major elective surgeries
• Prior to anticoagulation
Examiner: What are the complications of APKD?
Candidate:
• Cyst hemorrhage
• Recurrent UTI
• Nephrolithiasis
• Renal cancer
Abdominal Cases 59
• Renal failure
• Extra-renal manifestations
Examiner: What are the extra-renal 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 75 years of age
Examiner: How would you manage this patient?
Candidate:
• CBC (increased hematocrit), urine analysis, urea and electrolytes and US
abdomen
• Control hypertension: ACEI and ARB are the drugs of choice because of
increase renin-angiotensin system activity in these patients
• Manage renal failure if present
• Treat UTI
• Family screening and counseling
Examiner: What are the indications for surgery in APKD?
Candidate:
• Hemorrhage into cyst
• Very large kidneys
• Development of renal cancer.
RENALTRANSPLANT
Important Clues
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.
Common Pitfalls
• Failure to observe AV fistula or PD scar
• Failure to observe steroid and cyclosporine side effects (Cushing's features,
hirsutism or gingival hyperplasia)
• Failure to observe hearing aid in Alport syndrome
• Failure to recognize coexistent APKD or SLE signs
- TVii1,i irrV* frt roo o poor in tVio PIT?
60 Short Cases in Clinical Exams of Internal Medicine
Examiner Instructions
• Feel this patient’s abdomen
• Examine this patient's abdomen.
Examiner: What are the common reasons for renal transplantation?
Candidate:
• Diabetes mellitus
• Glomerulonephritis
• Adult polycystic kidney disease (APKD)
• Hypertension
Examiner: Which diseases tend to recur in transplanted kidney?
Candidate:
• IgA nephropathy
• Mesangiocapillary glomerulonephritis
• Focal segmental glomerulosclerosis (FSGS)
• Hereditary oxalosis
• Membranous GN
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
is important clue to the candidate that the graft may not be functioning.
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/pl 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
• Lvnmhocele
Abdominal Cases 61
HEPATOSPLENOMEGALY
Common Pitfalls
• Failure to feel the liver because of improper technique
• Misdiagnosing hepatosplenomegaly as PKD
• Mistaking the contracted rectus abdominis as organomegaly
• Failure to recognize stigmata of CLD, particularly spider nevi over the
shoulders.
Examiner Instructions
• Examine this patient’s abdomen
• Feel this patient's abdomen
• Examine the gastrointestinal system
Common causes of hepatosplenomegaly in clinical exams:
• Myeloproliferative disorders:
- Chronic myeloid leukemia
- Myelofibrosis
- Polycythemia vera
• Lymphoproliferative disorders:
- Lymphoma
- Chronic lymphocytic leukemia
• Portal hypertension (From liver cirrhosis or Budd-Chiari)
• Do not forget hemolytic diseases such as thalassemia
Other causes:
• Infections:
Viral: EBV CMV, HBV, HCV, HIV, etc.
- Brucellosis
- Malaria
- Leishmaniasis
- Tuberculosis
• Autoimmune: Systemic lupus erythematosus (SLE), rheumatoid arthritis (RA)
• Sarcoidosis
• Metabolic: Gaucher’s disease and amyloidosis
• Hemolytic anemia's: Autoimmune, thalassemia and hemoglobinopathies
MASSIVE SPLENOMEGALY
Causes of massive splenomegaly:
• Chronic myeloid leukemia
• Myelofibrosis
• Visceral Leishmaniasis (kala-azar)
• Malaria
Abdominal Cases 63
PRIMARY MYELOFIBROSIS
Important Clues
• Probably the most common cause of massive splenomegaly in the exam.
• The patient usually has huge splenomegaly, hepatomegaly and anemia.
64 Short Cases in Clinical Exams of Internal Medicine
Common Pitfall
Missing the presence of anemia.
Examiner Instructions
• This patient complains of fatigue, please examine his abdomen
• Examine this patient's abdomen
Examiner: Which diseases are included under the term myeloproliferative
neoplasms?
Candidate:
• Primary myelofibrosis
• Chronic myelogenous leukemia
• Polycythemia vera
• Essential thrombocytosis
• Chronic neutrophilic leukemia
• Chronic eosinophilic leukemia
• Systemic mastocytosis
Examiner: What are the mechanisms of anemia in myelofibrosis?
Candidate:
• Ineffective erythropoiesis and bone marrow malfunction
• Splenomegaly
• Bleeding from thrombocytopenia
FIGURE 3.10 Massive splenomegaly in primary myelofibrosis (the enlarged spleen may be
a nnror I atari h\/ ahrlr»minal incrtortinnÿ
Abdominal Cases 65
Candidate:
• Correct anemia (erythropoietin)
• Aspirin to prevent thrombosis
• JAK2 inhibitors
• Hydroxy
• Stem cell transplantation.
POLYCYTHEMIA VERA
Important Clues
If you are asked to examine the abdomen of a patient with pruritus, the three
main diagnoses to be suspected are primary biliary cirrhosis, polycythemia vera
or cholestatic jaundice from other causes.
Polycythemia vera may present in the exam as a stroke, skin examination for
generalized itching, retinal vein thrombosis or rarely portal vein thrombosis or
Budd-Chiari syndrome.
Common pitfall
Failure to recognize the plethoric face and skin of the patient
Examiner Instructions
This patient complains of itching. Please examine his abdomen
Important points to consider when examining a patient with suspected PV:
Observe for plethoric face, cherry red tongue, conjunctival injection, red nose,
ear lobes and palmar erythema. Examine the abdomen for splenomegaly, signs
of Budd-Chiari or portal hypertension and pulse oxymetry. Inform the examiner
that you would like to measure the blood pressure.
Examiner: What are the diagnostic criteria for PV?
Candidate:
• Major criteria:
- Hb > 18.5 g/dL in men and > 16.5 in women
- Presence of JAK2 mutation
• Minor criteria
- Bone marrow (BM) trilineage myeloproliferative
• Budd-Chiari syndrome
• Mesenteric thrombosis
• Peptic ulcer disease
• Splenomegaly
Examiner: What are the complications of PV?
Candidate:
• Hyperviscosity symptoms: Leading to dizziness, headache and visual blurring
• Ihrombotic episodes
• Hyperuricemia and gout
• Bleeding: Due to abnormal platelet function
• Acute leukemic transformation
Examiner: How woxdd you manage this patient?
Candidate:
• CBC
• ALP, LDH, uric acid level and B12 level
• Serum erythropoietin level
• JAK2 mutation
• US abdomen
• Phlebotomy: Keep hematocrit below 45%
• Aspirin to prevent thrombosis
• Ruxolitinib (JAK2 inhibitor)
• Hydroxyurea, interferon-alfa or busulfan.
ASCITES
Common Pitfalls
• Improper technique for performing shifting dullness
• Missing coexisting organomegaly.
Examiner Instructions
• Examine this patient's abdomen
• Examine the gastrointestinal system
Examiner: What is the most common cause of ascites?
Candidate: Liver cirrhosis and portal hypertension
Examiner: What are the 5 most common causes of ascites?
Candidate:
• Liver cirrhosis and portal hypertension
• CHF
• Malignancy
• Tuberculosis
68 Short Cases in Clinical Exams of Internal Medicine
• Nephrotic syndrome
• Liver cirrhosis
Examiner: How does malignancy lead to ascites?
Candidate: The mechanisms by which malignancy can lead to ascites include:
• Lymphatic obstruction
• Peritoneal metastasis
• Metastasis to the liver and portal vein compression.
Examiner:What is the mechanism of ascites in liver cirrhosis?
Candidate:
• Portal hypertension leading to splanchnic vasodilatation
• Hypoalbuminemia reduces plasma oncotic pressure and leads to
extravasation of fluid from the plasma to peritoneal fluid
Examiner: What is the portal venous pressure at which ascites starts to develop?
Candidate: > 12 mm Hg
Examiner: What is the most sensitive clinical sign that suggests the presence
of ascites?
Candidate: Dull percussion note over the flanks (present in about 90% of cases of
ascites) and shifting dullness
Examiner: What is the most specific clinical sign for ascites?
Candidate: Fluid thrill is the most specific sign but is less sensitive
Examiner: In which conditions other than ascites can you illicit 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 less than 500 mL?
Candidate: Ihe 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?
70 Short Cases in Clinical Exams of Internal Medicine
Candidate: A puddle is a small collection of water on the ground after rain. Put
the patients in a prone position for few minutes, and then ask him/her to raise
themselves on his/her elbows and knees. Start percussion over the flanks and
then over the most dependent part of the abdomen (center 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 edema
• Absence of stigmata of chronic liver disease (Figure 3.11)
• Presence of supra-clavicular lymph node enlargement
• SAAG < 1.1 g/dL
Examiner: How would you diagnose SBP?
Candidate: Ascitic fluid polymorphonuclear leukocyte 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.
FIGURE 3.11 Ascites from CLD. Observe the yellow skin and scarce hair. Candidates may
rviirr ninronfacir morl/c
Abdominal Cases 71
Examiner: What are the most reliable signs that determine the prognosis of
cirrhotic patients with ascites?
Candidate:
• Presence of hyponatremia
• Low arterial pressure
• Increased serum creatinine
• Low urine sodium
Examiner: How would you manage this patient?
Candidate:
• Obtain a proper history to determine the etiology 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 underlying cause
• Salt restriction 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
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 hyponatremia
• ACE inhibitors: Cause hypotension and renal failure
• Alpha blockers: Prazosin
• Dipyridamole
• Aminoglycosides
72 Short Cases in Clinical Exams of Internal Medicine
LIVER TRANSPLANT
Important Clues
• The presence of a Mercedes-Benz incision scar in the abdomen is suggestive
of liver transplantation (Figure 3.6)
• In the initial fewweeks after transplantation or ifthere are biliary complications
from liver transplantation, you may see also a T-tube for biliary drainage
• Hepatomegaly and signs of CLD may be present
Common Pitfalls
• Some candidates, particularly from countries with no facilities for liver
transplantation have not seen the Mercedes- Benz scar before the exam
• Some candidates may not know the T-tube and think it is an Ascitic drain.
Examiner Instructions
• Examine this patient's abdomen
• Why does this patient have such a big scar in his abdomen?
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 tumors
• Miscellaneous: Polycystic liver disease and Budd-Chiari syndrome
Examiner: Among these indications, which 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 extra hepatic malignancy
- Hepatic malignancy with macrovascular or diffuse tumor invasion
- Uncontrolled infection
- Active substance or alcohol abuse
- Severe comorbid conditions
- Non-compliance or insufficient motivation
- Technical impediment
- Brain death
Abdominal Cases 73
• Relative contraindications:
- Advanced age
- HIV infection
- Cholangiocarcinoma
- Portal vein thrombosis
- Psychosocial problems
7. Foucher Y, Daguin P, Akl A, et al. A clinical scoring system highly predictive of long¬
term kidney graft survival. Kidney Int. 2010;78(12):1288-94.
8. Ghosh K, Colah R, Manglani M, et al. Guidelines for screening, diagnosis and
management of hemoglobinopathies. Indian J Hum Genet. 2014;20(2):101-19.
9. lohn O, Mascarenhas, Attilio Orazi, et al. Advances in myelofibrosis: a clinical case
approach. Haematologica. 2013;98(10):1499-509.
10. Lindor KD, Gershwin ME, Poupon R, et al. American Association for Study of Liver
Diseases. Primary biliary cirrhosis. Hepatology. 2009;50(1):291-308.
11. Pecorari L, Savelli A, Cuna CD, et al. Ihe role of splenectomy in thalassemia major. An
update. Acta Pediatrica Mediterranea. 2008;24:57.
12. Pedersen JS, Bendtsen Fand Moller S. Management of cirrhotic ascites. Ther Adv
Chronic Dis. 2015;6(3):124-37.
13. Pei Y, Obaji J, Dupuis A, et al. Unified criteria for ultrasonographic diagnosis of
ADPKD. J Am Soc Nephrol. 2009;20(1):205-12.
14. Ravine D, Gibson RN, Walker RG, et al. Evaluation of ultrasonographic diagnostic
criteria for autosomal dominant polycystic kidney disease 1. Lancet. 1994;343:824-7.
15. Ruf AE, Kremers WK, Chavez LL, et al. Addition of serum sodium into the MELD
score predicts waiting list mortality better than MELD alone. Liver Transpl. 2005;11:
336-43.
16. Song AT, Avelino-Silva VI, Pecora RA, et al. Liver transplantation: fifty years of
experience. World J Gastroenterol. 2014;20(18):5363-74.
17. Tefferi A, Pardanani A. Myeloproliferative Neoplasms: A Contemporary Review.
JAMA Oncol. 2015;1(1):97-105.
18. Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA, et al. Proposals
and rationale for revision of the World Health Organization diagnostic criteria
for polycythemia vera, essential thrombocythemia, and primary myelofibrosis:
recommendations from an adhoc international expert panel. Blood. 2007;110:1092-7.
4
Neurology Cases
legs (Figure 4.1), muscle wasting (Figure 4.2), 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 then with resistance and then examine the power of each group
■I
PS
V
FIGURE 4.1 Charcot-Marie-Tooth disease. Observe the inverted champagne bottle shape
of the left leg, foot drop and high arched foot
FIGURE 4.2 Asymmetry of the legs and wasting of the left leg muscles from old
>i #/•*! «•*-!»-
78 Short Cases in Clinical Exams of Internal Medicine
- Transverse myelitis
• Spastic paraparesis with cerebellar ataxia (impaired coordination)
- Multiple sclerosis
- Friedreich’s ataxia
- Tabes dorsalis
• Spastic paraparesis with up going plantars and loss of ankle or knee reflexes
- Subacute combined degeneration of the spinal cord (BJ2 deficiency)
- Motor neuron disease
- Syphilis
- Friedreich's ataxia
- Coexisting peripheral neuropathy (such as diabetes) and cord lesion
• Spastic paraparesis with muscle fasciculations and wasting
- Motor neuron disease
• Spastic paraparesis with mixed cerebellar and sensory ataxia with pes cavus
in a young patient
- Friedreich's ataxia
SPASTIC PARAPARESIS
Important clues in cases with spastic paraparesis
• The three main diseases that cause absent position sense in the exam or
sensory ataxia are subacute combined degeneration of the cord, Friedreich's
ataxia or tabes dorsalis (tabes dorsalis is very rare nowadays).
• When you find a patient with up going plantar reflexes and absent knee
or ankle jerks the main differentials in the exam are Friedreich's ataxia in
younger patients and B12 deficiency or syphilis in older patients.
• Typical findings in Friedreich’s ataxia are combined cerebellar and sensory
ataxia with positive finger nose test and positive Romberg's sign. In addition
there is loss of position and vibration sense. Additional features that
support the diagnosis are the presence of foot deformities such as pes cavus
(Figure 4.3).
• Candidates frequently misdiagnose Friedreich's ataxia as multiple sclerosis
because both can affect young patients, cause cerebellar signs and paraparesis.
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 motor neuron disease cases in the exam is the presence of a
combination of upper motor neuron signs such as spasticity, hyperreflexia
and up going plantar response and lower motor neuron signs in the form of
wasting and atrophy of the muscles and the presence of muscle fasciculations,
claw hands or foot drop (Figure 4.4). It usually occurs in male patients
between 40-60 years old. (Remember motor neuron disease when you see
fasciculations in the exam).
• 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 clinical
LMC'
F /
\
FIGURE 4.4 Severe muscle wasting of the hands and legs in a patient with motor neuron
disease (observe bilateral claw hands)
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, sensory ataxia and loss of position sense.
Examiner Instructions
• Examine the lower limbs of this patient
• Perform a neurologic examination of the lower limbs.
Examiner: What are the causes of spastic paraparesis?
Candidate:
• Spinal cord lesion (5 Ts): This should always be kept in mind as spinal cord
compression is considered a medical emergency
- Tumor
- Tuberculosis
Neurology Cases 81
fcl
FIGURE 4.5 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 becomes
limited
MULTIPLE SCLEROSIS
Examiner: Are demyelinating plaques seen in MRI specific for MS?
Candidate: No. Demyelinating and hyperintense lesions can also be seen in other
diseases such as:
• SLE
• Behget's disease
• Syphilis
• Sjogren's syndrome
• Sarcoidosis
• Acute disseminating encephalomyelitis
Examiner: What are the types of MS?
Candidate:
• Relapsing remitting (most common form)
Neurology Cases 83
• Primary progressive
• Secondary progressive
• Progressive relapsing
Examiner: What criteria are used in the diagnosis of multipe sclerosis (MS)?
Candidate: The criteria used for the diagnosis of MS are the revised McDonald
criteria. It requires demonstration of dissemination of the lesions in time and in
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: 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 cerebrospinal fluid (CSF) of elevated IgG
or 2 or more oligoclonal bands can be important to support the presence of
inflammation, to exclude other diagnosis and to predict clinically definite MS.
Examiner: What are the ocular complications of MS?
Candidate:
Optic neuritis and retrobulbar optic neuritis
• Internuclear ophthalmoplegia (Figure 4.6)
• 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?
Candidate:
• Sudden vis ual loss
• Pain on moving the eyes
• In retrobulbar neuritis the examination of the fundus is usually unremarkable
(patient sees nothing and doctor sees nothing)
• Usually unilateral in adults
• Recovery is usually spontaneous.
FIGURE 4.6 Right internuclear ophthalmoplegia. The patient is attempting to look to the
84 Short Cases in Clinical Exams of Internal Medicine
• H. pylori infection
• Metformin and proton pump inhibitors
• Terminal ileum diseases: Crohn’s disease, tuberculosis (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 hypokalemia.
Examiner: If the hemoglobin level is normal, can B12 deficiency cause this
patient's neurologic abnormalities?
Candidate: Yes, neurologic manifestations of B12 deficiency can still occur in the
absence of anemia.
TABES DORSALIS
Examiner: What simple bedside signs can differentiate tabes dorsalis from
subacute combined cord degeneration due to BI2 deficiency?
Candidate:
• Pupil examination for Argyll Robertson pupils (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: Is ARP pathognomonic for neurosyphilis?
Candidate: No, ARP can be seen in other conditions such thiamine deficiency
(Wernicke encephalopathy) multiple sclerosis, neurosarcoidosis, brain tumors.
Examiner: Howlong after exposure to Treponema pallidum does tabes dorsalis
develop?
Candidate: It takes up to 20 years for tabes dorsalis to develop after exposure to
T. pallidum
Examiner: How would you diagnose tabes dorsalis?
Candidate: CSF serology— CSF VDRL if positive is very suggestive of Tabes
J n»r.nUn nee CTA ADC I r»r»n-firm tVio Hiaonnctc
86 Short Cases in Clinical Exams of Internal Medicine
FRIEDREICH'S ATAXIA
flexion occurs. In addition there will be hyperreflexia in the reflexes below C5-C6,
which is the triceps reflex (C7).
PERIPHERAL NEUROPATHY
Common Pitfalls
• Misdiagnosing peripheral neuropathy and lower motor signs as spastic
paraparesis
• Missing the clinical signs of Charcot-Marie-Tooth (Figure 4.1)
• Failure to mention nerve conduction studies in the investigations.
Examiner Instructions
• Examine the lower limbs of this patient
• Perform neurologic examination of the lower limbs.
The causes of peripheral neuropathy can be memorized as:
A: Autoimmune vasculitis
B : B,, B6, B]2 deficiency
C : Cancer
D : Diabetes/Drugs
E : Ethanol
F : Failure (Renal and liver)
G : Guillain Barre
H : Hereditary sensorimotor (CMT)
I : Infections (Lyme, HIV hepatitis, leprosy)
Examiner: What are the causes of peripheral neuropathy?
Candidate:
Causes of peripheral neuropathy include:
• Diabetes mellitus (Figure 4.7)
• Alcoholism
• Guillain Barre syndrome and chronic inflammatory demyelinating
polyneuropathy (CIDP)
• Charcot-Marie-Tooth (Hereditary sensory motor neuropathy)
• Nerve injuries: Needle injection and trauma
• Malignancies: Multiple myeloma, paraneoplastic
• Infections: Lyme disease, hepatitis C, leprosy (Figure 4.8), diphtheria and HIV
• Vasculitis and CT diseases: Lupus, rheumatoid arthritis, polyarteritis nodosa
(PAN) (Figure 4.9)
• Drugs: INH, vincristine, metronidazole, nitrofurantoin
• Chronic liver and kidney diseases
• Vitamin deficiency: B1( Bf/ B12, E
Neurology Cases 89
FIGURE 4.7 The presence of diabetic dermopathy may suggest diabetes as the cause of
peripheral neuropathy
FIGURE 4.8 Typical claw hand due to peripheral neuropathy in leprosy. Observe the
multiple ulcerations of the fingers
FIGURE 4.9 Presence of a vasculitic rash suggests the diagnosis of vasculitis as the cause of
this patient's severe numbness and right foot drop
Common Pitfalls
See peripheral neuropathy.
Examiner: What is your diagnosis?
Candidate: This patient has foot drop, pes cavus, claw toes and inverted
champagne bottle shape of the leg (due to wasting of the distal muscles of the
leg). There is obvious wasting of muscles of the hands. He has weakness of the
legs and absent touch and pin prick sensation in the legs. This patient has mixed
motor and sensory neuropathy most likely CMT (Figure 4.1).
Examiner: Which type of neuropathy does Charcot-Marie-Tooth 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 PMP 22 gene
Examiner: How many variants of CMT are there?
Candidate: There are many variants but the most important and most common
are CMT1 and CMT2.
Examiner: What are the most commonly involved peripheral nerves in CMT?
Candidate: Peroneal and ulnar nerves but can involve other peripheral nerves as
well.
92 Short Cases in Clinical Exams of Internal Medicine
Common Pitfall
• Candidates find difficulty in diagnosing Miller Fisher variant in the exam
• Missing tracheostomy scar or bilateral facial weakness.
Examiner: What are your findings?
Candidate: This gentleman has lower motor neuron type of weakness in the lower
limbs with hypotonia, power of grade 1/5 and loss of knee and ankle reflexes.
Sensation is intact. I see the patient has a tracheostomy tube. I would suggest a
diagnosis of Guillain-Barre syndrome (GBS) with respiratory muscle involvement.
Examiner: What conditions might precipitate GBS?
Candidate:
• Viral infections
• Campylobacter gastroenteritis
• Immunization
• Upper respiratory tract infection (URTI)
• Mycoplasma infection
• Surgery
Examiner: What is Miller Fisher variant of GBS?
Candidate: It comprises a triad of ataxia, areflexia and ophthalmoplegia in
addition to the lower limb weakness?
Examiner: Which test is considered very specific for the Miller Fisher variant
of GBS?
Candidate: Presence of anti-GQlb antibodies in the CSF is very specific for Miller
Fisher variant.
Neurology Cases 93
• Accessory nerve: Ask the patient to shrug the shoulder and check the muscle
strength and movement.
• Hypoglossal nerve:
- Look at the tongue for wasting and fasciculation's
- 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.
Common Pitfalls
• Improper technique of cranial nerve examination
• Failure to complete examination within the allocated time due to inadequate
prior practice.
Examiner Instructions
Examine the cranial nerves.
- Multiple sclerosis
• Surgical causes:
- Posterior communicating artery aneurysm or brain tumors compressing
the nerve
- Uncal herniation
Examiner: How would you differentiate third nerve palsy due to nerve ischemia
from that due to compression by aneurysm or tumor?
Candidate: In ischemic causes, usually the peripherally located parasympathetic
nerve fibers 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 4.10 and 4.11).
Examiner: What are the manifestations of cavernous sinus thrombosis and
which cranial nerves are involved?
Candidate:
• Headache
• Periorbital edema
• Chemosis
• 3, 5, 6 cranial nerve palsies (ophthalmoplegia and ptosis with dilated pupil)
FIGURE 4.10 Complete ptosis due to left third nerve palsy from a compressive lesion
I
FIGURE 4.11 Same patient in Figure 4.1 0. Observe the left eye globe deviation to the left
ciria rli in rtaralwcic rtf thp Ipft mpHial rPftl K mikrip
96 Short Cases in Clinical Exams of Internal Medicine
FIGURE 4.12 Right sixth nerve palsy. The patient is attempting to look to the right side.
Observe the paralyzed right lateral rectus
Neurology Cases 97
FIGURE 4.13 Bilateral Bell's phenomenon from bilateral lower motor neuron facial palsy
(patient is attempting to close the eyes tightly)
98 Short Gases in Clinical Exams of Internal Medicine
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.
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)
HYPOGLOSSAL NERVE PALSY
Examiner: 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 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 the tongue is deviated to the paralyzed side?
Candidate: Due to unopposed action of the opposite genioglossus muscle
(Figure 4.14)
Neurology Cases 99
0r
FIGURE 4.14 Right hypoglossal nerve palsy. Observe the atrophy of the right side of the
tongue and tongue deviation to the right side
Examiner: How would you differentiate between lower motor neuron and
upper motor neuron lesions of the hypoglossal nerve?
Candidate: LMN hypoglossal palsy leads to atrophy and fasciculation of the
affected side whereas UMN lesion leads to spastic tongue.
Examiner: What are the causes of hypoglossal nerve palsy?
Candidate:
• Lesions in the medulla
- Medullary infarction (Medial medullary syndrome)
- Hemorrhage
- Syringobulbia
- Medullary tumor (Glioma)
- Demyelination
- Arnold-Chiari malformation
- Bulbar palsy: Motor neuron disease
• Lesions in the base of skull (hypoglossal canal)
- Metastatic carcinoma
- Nasopharyngeal carcinoma
- Meningioma
- Basal meningitis (such as TB)
• Lesions in the carotid space: Carotid aneurysm
• Cerebral lesions: Ischemic stroke.
1 00 Short Cases in Clinical Exams of Internal Medicine
INTERNUCLEAR OPHTHALMOPLEGIA
Common Pitfalls
• Candidates diagnose INO as third nerve palsy despite vertical movements of
the eyes not being affected and absence of ptosis or pupillary dilatation
• Failure to suspect brain stem stroke as the cause in older patients.
Important Clues
• The most common cause of INO in the exam is multiple sclerosis
• Ihe typical findings are total or partial failure to adduct one eye with nystagmus
in the abducting eye on lateral gaze (Figure 4.6). 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 Instructions
• Examine this patient’s cranial nerves
• Examine the eyes of this patient.
Candidate
This patient has failure of adduction in the left eye associated with nystagmus in
the right eye. 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
Examiner: What are the causes of INO?
Candidate:
• Multiple sclerosis is the most common cause, particularly in young patients
• Brain stem infarction (the second most common cause and probably the
most common in older patients)
• CNS tumors
• CNS infections: Toxoplasmosis, encephalitis, acquired immune deficiency
syndrome (AIDS)
• Head injury
• Arnold-Chiari malformation
• Wernicke's 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
Neurology Cases 101
CEREBELLAR SYNDROME
How to Examine the Cerebellar System?
• Wash your hands
• Introduce yourself to the patient and ask permission
• Perform a quick surveillance of the surroundings and the patient. Check for
walking aids, urinary bladder catheter and intravenous drug infusions such
as methylprednisolone that may suggest MS
• It is preferred to ask the patient to sit on the bedside rather than lying in 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 his/her name and to repeat certain phrases like "British
constitution” "west register street” and "hippopotamus" to demonstrate the
presence of scanning dysarthria
• Check for nystagmus
• Check 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 patient's arms before reaching
his/her face
• Check 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 tandem gait
• Check for Romberg sign
• Tell the examiner you would normally examine the fundus for papilledema
or optic atrophy.
Common Pitfalls
• Failure to perform a proper examination of the cerebellar system
102 Short Cases in Clinical Exams of Internal Medicine
Examiner Instructions
• Examine this patient’s cerebellar system
• This gentleman has difficulty in walking, please examine his gait and proceed
accordingly.
Candidate
This gentleman has scanning dysarthria, nystagmus, impaired finger nose test
with past pointing, dysdiadochokinesis, pendular reflexes and broad based ataxic
gait. Heel to shin test and tandem walking are abnormal.
Examiner: What is the differential diagnosis?
Candidate:
• Cerebellar stroke (hemorrhage/ischemia)
• Cerebellar tumor
• Multiple sclerosis
• Alcohol induced cerebellar degeneration
• Drugs: Phenytoin
• Friedreich's ataxia
• Paraneoplastic
Examiner: What is the importance of Tandem walking in testing cerebellar
function?
Candidate: Tandem walking is a very sensitive test when cerebellar disease is
mild and other cerebellar signs are negative particularly when the lesion is in the
vermis of the cerebellum.
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.
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 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’,’
"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)?
Candidate: Nystagmus from a peripheral cause is typically horizontal and
unidirectional with the fast phase being away from the affected side. Nystagmus
Neurology Cases 103
due to 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 paraneoplastic syndrome is suspected.
MYASTHENIA GRAVIS
How to Examine a Case of Myasthenia Gravis?
• Wash your hands
• Introduce yourself and request permission from the patient
• Perform a quick surveillance of the surroundings and the patient. Check
for non-invasive ventilation machine, nasogastric tube, intravenous drugs
such as IV immunoglobulin and steroids. Inspect the patient for ptosis and
myopathic face (Figure 4.15)
• Ask the patient about his/her name and other questions to demonstrate the
dysphonia and nasal tone of speech
• Ask the patient to smile to demonstrate myasthenic sneer
• Examine the eye movement and ask the patient to inform you if they see
double vision at any time.
• Test for fatigability by asking the patient to count loudly up to "50" or by
elevating the eyebrows continuously for a minute or so
• Ask the patient to push his/her head against your hand to check for neck
muscle power
• Examine the gag reflex and undertake the "ah test”
• Examine for proximal muscle weakness by asking the patient to stand from a
squatting position or abduct and adduct shoulders against resistance
• Tell the examiner you would normally test for respiratory muscle function.
Common Pitfalls
• Failure to recognize ptosis
• Failure to consider myasthenia when diplopia is multidirectional and cannot
be explained by specific cranial nerve palsy
• Failure to test for fatigability (asking patient to maintain upward gaze to
demonstrate increasing ptosis or count continuously for voice fatigue)
• Failure to examine for proximal myopathy.
Examiner Instructions
• Have a look at this patient’s face and tell me the diagnosis
• Examine this patient's eyes
• This patient complains of easy fatigability, what is the cause?
• What is the cause of this patient's difficulty in breathing?
Candidate
This lady hasptosis, diplopia, dysphoniaornasal speech, dysphagia, expressionless
face, myasthenic sneer, weakness of the neck muscles (dropped head syndrome)
and proximal muscle weakness. She most likely suffers from myasthenia gravis.
Examiner: What do you mean by myasthenic sneer?
Candidate: A sneer means to smile at someone but with an expression on your
face that shows a dislike. When a patient with myasthenia attempts to smile the
angles of the mouth fail to move and there will be slight rise in the mid upper lip.
Examiner: What are the types of myasthenia gravis?
Candidate:
• Ocular: Weakness is limited to eyelid and extra-ocular muscles
• Generalized: Weakness involves ocular muscles, limbs, bulbar and respiratory
muscles.
Examiner: What symptom differentiates myasthenic 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 diplopia of myasthenia from other
causes of diplopia?
Candidate: Diplopia in myasthenia usually cannot be explained by a particular
nerve palsy and is usually multidirectional.
Examiner: How would you differentiate myasthenia gravis from Eaton-
Lambert syndrome?
Candidate: In Eaton-Lambert syndrome:
Neurology Cases 105
• Inspect the patient for a apathetic monk face, ptosis, wasting of the temporalis
muscle and frontal balding
• Ask the patient to squeeze your hand with his/her hand grip and keep holding
for sometime and then release it
• Illicit percussion myotonia using the tendon hammer
• Examine for proximal muscle weakness
• Tell the examiner you would normally test for respiratory muscle weakness
and ask the patient about dysphagia and family history
Clues: Suspect MD when you see a ‘monk’ in your exam or the patient does not
want to release your hand after a handshake.
Common Pitfalls
• Missing the characteristic facial appearance of MD is common
• Failure to recognize the presence of myotonia after a handshake.
Examiner Instructions
• Have a look at this gentleman, what is the diagnosis?
• This patient complains of generalized body pain, please do a general
examination
• Can you shake hands with this patient and proceed accordingly?
Candidate
This gentleman has frontal balding and wasting of the temporalis and masseter
muscles. He has ptosis with a monk face appearance. There is slow release of
hand grip and percussion myotonia.
Examiner: How can you illicit percussion myotonia?
Candidate: Percussion on the thenar eminence with a tendon hammer results in
prolonged adduction of the thumb.
Examiner: What are the cardinal manifestations of myotonic dystrophy?
Candidate: "the sixDs"
1. Dominant inheritance (AD)
2. Dystrophy
3. Disturbance of conduction and dilated cardiomyopathy
4. Diabetes mellitus
5. Dysphagia
6. Decreased fertility
Examiner: What is the most common cause of poor vision in patients with MD?
Candidate: Cataract.
108 Short Cases in Clinical Exams of Internal Medicine
Examiner: What are the two most common causes of death in patients with
MD?
Candidate:
• Respiratory muscle weakness
• Sudden cardiac death from arrhythmia
Examiner: How would you manage this patient?
Candidate:
• EMG
• Serum immunoglobulin level (Hypogammaglobulinemia)
• Serum testosterone, follicle-stimulating hormone (FSH) and luteinizing
hormone (LH) (primary hypogonadism)
• Genetic counseling
• Physiotherapy
• Regular monitoring of cardiac rhythm
• Swallowing therapy
• Regular testing and care of respiratory muscle function.
PARKINSON'S DISEASE
How to Examine a Case of Parkinson' s Disease?
Wash your hands
Introduce yourself to the patient and take 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,
dribbling of saliva, slow movement and monotonous speech
Perform the glabellar tap sign and observe continuous blinking
Passively move the wrist joint and elbow to check for cogwheel rigidity
(exacerbated by voluntary movement of other arm) and lead pipe spasticity
(ask the patient about any pain in these joints before you do that)
Ask the patient to stand and walk. Observe the stooped posture, lack of arm
swinging and the short shuffling gait
Tell the examiner that you would normally assess the patient's handwriting
and examine eye movement and for postural hypotension (to exclude
Parkinson-plus syndromes).
Common Pitfalls
• Failure to recognize clinical features of Parkinson's disease
• Failure to differentiate Parkinson’s disease from Parkinson-plus syndromes
Examiner Instructions
• This patient has had frequent falls, perform a general examination
Neurology Cases 109
PTOSIS
Important causes of ptosis in clinical exams:
• Bilateral ptosis in the exam
- Myasthenia gravis (Figure 4.15)
- Guillain-Barre syndrome
- Myotonic dystrophy
Neurology Cases 111
HORNER'S SYNDROME
How to Examine a Patient with Homer's Syndrome?
• Look at the patient in general for evidence of brain stem stroke such as
presence of nasogastric feeding tube, dysphonia, weakness, etc.
• Check for ptosis, meiosis and reaction to light and enophthalmos
• Feel both sides of face to check for 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 suggest Horner's syndrome)
• Examine the neck for scars, central lines and masses
• Percuss and auscultate the lung apex for evidence of apical lung lesion
• Inspect the hand for wasting of the small muscles (Figure2.1).
Common Pitfalls
• Failure to examine the hands (wasting) and lungs (Pancoast lesion)
• Failure to observe neck scars.
Examiner Instructions
• Have a look at this patient's face and proceed accordingly
• This patient has a cough, examine his eyes.
Examiner: What are the causes of Horner's syndrome?
Candidate:
» Cervical rib
• Pancoast tumor of the lung
• Lateral medullary syndrome (brain stem stroke)
• Neck tumors
• 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 brain stem lesion.
112 Short Cases in Clinical Exams of Internal Medicine
FURTHER READING
1. Bergamaschi R. Prognosis of multiple sclerosis: clinical factors predicting the late
evolution for an early treatment decision. Expert Rev Neurother. 2006;6(3):357-64.
2. Brooks BR, Miller RG, Swash M, et al. 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;l(5):293-9.
3. Costa J, Swash M, de Carvalho M. Awaji Criteria for the Diagnosis of Amyotrophic
Lateral Sclerosis: A Systematic Review. Arch Neurol. 2012;69(ll):1410-6.
4. Damasceno A, Von Glehn F, Brandao CO, et al. Prognostic indicators for long-term
disability in multiple sclerosis patients. J Neurol Sci. 2013;324(l-2):29-33.
5. Groh WJ, Groh MR, Saha C, et al. Electrocardiographic abnormalities and sudden
death in myotonic dystrophy type 1. N Engl J Med. 2008;358(25):2688-97.
6. Jankovic J. Parkinson's disease: clinical features and diagnosis. J Neurol Neurosurg
Psychiatry. 2008;79(4):368-76.
7. Kaeser FIE. Drug-induced myasthenic syndromes. Acta Neurol Scand. 1984,100
(Suppl):39-47.
8. Keane JR. Internuclear Ophthalmoplegia: unusual Causes in 114 of 410 Patients. Arch
Neurol. 2005;62(5):714-7.
9. Mehta S. Neuromuscular disease causing acute respiratory failure. Respir Care.
2006;5l(9):1016-21.
10. Menon V, Saxena R, Misra R, et al. Management of optic neuritis. Indian J Ophthalmol.
2011;59(2):117-22.
11. Polman CH, Reingold SC, Banwell B, et al. Diagnostic criteria for multiple sclerosis:
2010 Revisions to the McDonald criteria. Ann Neurol. 2011;69(2):292-302.
12. Prasad S, Galetta S. Eye movement abnormalities in multiple sclerosis. Neurol Clin.
28(2010):641-55.
13. Schulz JB, Boesch S, Burk K, et al. Diagnosis and treatment of Friedreich ataxia: a
European perspective. Nat Rev Neurol. 2009;5(4):222-34.
14. Swanton J, Fernando K, Miller D. Early prognosis of multiple sclerosis. Handb Clin
Neurol. 2014;122:371-91.
15. Walgaard C, Lingsma HF, Ruts L, et al. Early recognition of poor prognosis in Guillain-
Barre syndrome. Neurology. 2011;76(ll):968-75.
16. Wingerchuk DM, Banwell B, Bennett JL, et al. International consensus diagnostic
criteria for neuromyelitis optica spectrum disorders. Neurology. 2015;85(2):177-89.
5
Endocrine, Rheumatology,
Connective Tissue and Skin Cases
GRAVES' DISEASE
How to Examine a Patient with Graves' Disease?
• Wash your hands
• Introduce yourself to the patient and take permission for examination
• It is better that the patient sits on the side of the bed or a chair. A goiter 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 goiter (Figure 5.1)
• Hold the hand of the patient, examine the pulse rate, rhythm and check for
the presence of a collapsing pulse. Feel the palm of the hand for sweating and
warmth. Ask the patient to extend his/her hands and spread the fingers to
look for fine tremor. Examine the fingers for clubbing and nail onycholysis
• Examine the eyes for the presence of chemosis, redness, lid retraction,
exophthalmos, lid lag and ophthalmoplegia
• Follow the standard four steps for thyroid gland examination.
Inspection: Lookfor swelling of the gland (Figures 5.2 and 5.3). Ask the patient
to swallow and see the movement of the gland. Ask the patient to protrude
his/her tongue “for exclusion of thyroglossal cyst" Feel the thyroid gland
anteriorly and posteriorly for surface, nodularity, temperature and adjacent
lymph nodes. Feel for tracheal deviation. Ask the patient to swallow some
water and feel for movement with swallowing. Percuss below the gland for
retrosternal extension of the goiter. Listen over the thyroid gland for a bruit.
• Examine the legs for pretibial myxedema (Figure 5.4)
,AI
114 Short Cases in Clinical Exams of Internal Medicine
RtW
FIGURE 5.1 Bilateral exophthalmos in Graves' disease. Observe the sclera between the
lower eyelid and the cornea
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V r 4
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_
FIGURE 5.2 Diffuse goiter in Graves' disease
FIGURE 5.3 Neck swelling caused by cystic hygroma. Not all neck swellings are goiter
Endocrine, Rheumatology, Connective Tissue and Skin Cases 115
• Tell the examiner you would like to ask the patient about appetite, weight loss
and heat intolerance.
Common Pitfalls
• Failure to recognize the presence of atrial fibrillation
• Failure to properly assess the thyroid status.
Examiner Instructions
• This patient complains of palpitation; please have a look at her
• Assess the thyroid status of this patient
• Examine the neck.
Candidate
This patient is clinically hyperthyroid. She appears thin and anxious, has a staring
look, exophthalmos, lid retraction, lid lag, chemosis, ophthalmoplegia, with
warm sweaty hands and tachycardia. She has a diffuse goiter with a bruit. There is
no ophthalmoplegia, pretibial myxedema or nail onycholysis.
Examiner: What do you think the cause of this patient's hyperthyroidism is and
why?
Candidate: The cause in this patient is most likely Graves' disease. Features that
differentiate Graves’ disease from other causes of hyperthyroidism such as toxic
multinodular goiter are:
• Presence of eye signs (Graves' ophthalmopathy)
116 Short Cases in Clinical Exams of Internal Medicine
• Diffuse goiter
In general, the presence of these three features along with signs and symptoms
of hyperthyroidism can establish the diagnosis of Graves' disease.
Other features that can help in differentiation:
• Assays for thyrotropin-receptor antibodies “TRS-Ab" (particularly thyroid
stimulating immunoglobulin "TSIs") is confirmatory for Graves’ disease.
Detection of TSIs is diagnostic for Graves’ disease.
• Diffuse uptake of iodine on Radioactive iodine uptake scanning.
Examiner: What clinical features suggest a patient is hyperthyroid?
Candidate:
• Tachycardia or atrial fibrillation
• Warm and moist skin
• Presence of lid lag
• Stare
• Hand tremor
• Proximal muscle weakness
• Weight loss despite increased appetite
• Thyroid bruit
Note: Lid retraction is not a good sign to indicate hyperthyroid status.
Examiner: What other causes of hyperthyroidism do you know?
Candidate:
• Graves' disease (most common 60-90% of all causes of hyperthyroidism)
• Toxic multinodular goiter
• Toxic adenoma
• Subacute thyroiditis
—
• Drug induced Amiodarone
• Factitious thyrotoxicosis (Taking too much thyroxin)
Examiner: How would you manage this patient?
Candidate:
• Investigations:
- Thyroid function test
- Complete blood count (CBC) and liver function test (LFT) as baseline
before starting antithyroid drugs
- Radioactive iodine uptake thyroid scan
- Thyrotropin-receptor antibodies
• Treatment:
- Radioiodine ablation: The most commonly used therapy, radioactive
iodine ablation therapy is preferred in the following situations:
♦ Severe forms of hyperthyroidism: A large thyroid gland, multiple
symptoms of thyrotoxicosis, high levels of thyroxin, and high titers of
TSI.
Endocrine, Rheumatology, Connective Tissue and Skin Cases 117
♦ Younger patients, due to the high relapse rate (>50%) associated with
antithyroid therapy.
Pretreatment with antithyroid drugs: Patients who cannot tolerate
hyperthyroidism such as the elderly or patients with heart diseases
must be premedicated 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 pretreatment with thioamides
reduces the cure rate of radioiodine therapy in hyperthyroid diseases.
Contraindications: Pregnancy and severe ophthalmopathy (may
worsen Graves’ ophthalmopathy)
- 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 potential teratogenic effect of Methimazole. TFT should be assessed
six 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 normalization of T3 and T4 levels.
Duration of therapy varies but usually one to two years.
- Surgery: Is not popular therapy nowadays. Indicated mainly for obstructive
goiter or patients who cannot tolerate other therapies.
Examiner: How would you minimize the risk of worsening of ophthalmopathy
by radioactive iodine?
Candidate: Administration of steroids before and during radioactive iodine.
Examiner: What advise 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
one month.
• Pregnancy should be postponed for up to six months post-treatment
• Monitor thyroid function for hypothyroidism
• Monitor for worsening of ophthalmopathy
Examiner: What causes pretibial myxedema in Graves' disease? Is it specific
for Graves’ disease?
Candidate: It results from accumulation of glycosaminoglycans (hyaluronic
acid) in the dermis. It is not specific for Graves’ disease as it may be rarely seen in
normal patients and in patients with autoimmune thyroiditis. Treatment includes
control of thyroid function, local steroid use and pentoxifylline in resistant cases
118 Short Cases in Clinical Exams of Internal Medicine
Common Pitfalls
• Failure to recognize acromegalic features
• Failure to examine for visual field defects
• Failure to examine for carpal tunnel syndrome.
Examiner Instructions
• Have a look at this gentleman, what is the diagnosis?
• This man complains of headache, what is the diagnosis?
Endocrine, Rheumatology, Connective Tissue and Skin Cases 119
FIGURE 5.5 Prominent supraorbital ridge and cutis verticis gyrata in a patient with
acromegaly
8s
sis V
Candidate
This gentleman has features suggestive of acromegaly. He has tall stature, coarse
features, frontal bossing, Wide spacing of the teeth, prognathism, large lip and
nose, cutis verticis gyrata (furrows resembling gyri of the scalp), spade shaped
hands with doughy-feeling and tight ring, acanthosis nigricans, high blood
pressure, carpel tunnel syndrome and bitemporal hemianopia.
1 20 Short Cases in Clinical Exams of Internal Medicine
FIGURE 5.7 Spade shaped hand and tight ring in a patient with acromegaly
Examiner: Do you know any other causes of acromegaly other than pituitary
tumors?
Candidate:
• Hypothalamic tumor secreting growth hormone-releasing hormone (GHRH)
• Ectopic GH or GHRH secretion from pulmonary carcinoid or small cell lung
cancer.
Examiner: Can you name some conditions that mimic acromegaly?
Candidate:
• Familial tall stature
• Pseudoacromegaly: Acromegalic features with normal hormonal tests in
patients with insulin resistance
• McCune-AIbright syndrome
• Cerebral gigantism (Sotos syndrome)
Examiner: How would you treat this patient?
Candidate:
• Pituitary surgery is the main stay 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 of the clinical features of acromegaly are expected to improve
with 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 should you suspect if this patient complains of nocturnal
breathlessness?
Candidate:
• Obstructive sleep apnea
1 22 Short Cases in Clinical Exams of Internal Medicine
CUSHING'S SYNDROME
How to Examine a Patient with Suspected Cushing's Syndrome?
• Wash your hands
• Introduce yourself to the patient and request permission for examination
• Inspect the patient for rounded "moon like" face, red cheeks, truncal obesity
with limb wasting.
• Examine the eyes for cataract
• Examine the mouth for oral thrush
• Look at the back of the neck and the back for “buffalo hump" and acne
• Examine the skin for ecchymosis and thin skin and the presence of pink striae
over the abdomen (Figure 5.9)
• Test for proximal muscle weakness
• Tell the examiner that you would like to measure the blood pressure and
check the blood sugar
• Important clue: In clinical exams, Cushing's syndrome is most frequently
encountered as an iatrogenic type from long-term exogenous steroid use.
During the examination observe carefully for features of the underlying
disease for which steroids are being used. Examples are rheumatoid arthritis,
systemic lupus erythematosus (SLE), interstitial lung disease (patient may
be using oxygen, with dyspnea or has finger clubbing) and a renal transplant
patient.
Endocrine, Rheumatology, Connective Tissue and Skin Cases 1 23
Common Pitfalls
• Failure to recognize features of Cushing's syndrome
• Failure to suspect fracture of the spine or avascular necrosis as causes of low
back pain.
Examiner Instructions
• This patient complains of low back pain, what could be the cause? (This is a
very common instruction)
• This patient has a high blood pressure; please have a look at her
• This patient complains of generalized fatigue; examine her to find the cause.
• This patient has systemic lupus erythematosus, what is the cause of her arm
weakness?
Candidate
This patient has central obesity, moon like face, thin skin, acne, multiple bruises,
proximal muscle weakness, high blood pressure, neck hump, facial plethora and
pinkish striae over the abdomen. She has Cushing’s syndrome.
Examiner: Why does this patient have low back pain?
Candidate: Patients with Cushing's syndrome are at risk of osteoporosis and
vertebral fractures. In addition, avascular necrosis of the head of femur may give
hip or low back pain
Examiner: What is the most common cause of Cushing’s syndrome?
Candidate: Iatrogenic due to use of steroids
Examiner: What are the other causes of Cushing's syndrome?
Candidate:
• ACTH dependent Cushing's syndrome:
- Pituitary adenoma "Cushing's disease”
- Ectopic adrenocorticotropic hormone (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 tumors, medullary carcinoma of
thyroid, islet cell tumors.
124 Short Cases in Clinical Exams of Internal Medicine
• Perform a general inspection of the patient. Observe the 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 5.10)
• Perform Chvostek’s and Trousseau's sign for hypocalcemia
• Tell the examiner that you would like to ask about family history and
symptoms of paraesthesiae and that you would like to examine the feet for
shortened metatarsal bones.
Important Clues
The most common two scenarios in the exam are either the patient is presenting
with paraesthesiae in the hands (tingling and numbness) or referred by her GP
for investigation of short stature.
A less common scenario is referral for investigation of recurrent seizure
episodes. Findings particularly of a 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 exam are females. This is because the disease is
rare and the male to female ratio is almost double.
Therefore, when you have a female patient in an exam referred for investigation
of short stature, the three most likely possibilities are Turner syndrome, pseudo-
hypo-PTH or congenital hypothyroidism.
Common Pitfalls
Candidates frequently miss the short fourth and fifth fingers particularly when
the scenario is of paraesthesiae of the hands and think the case is carpal tunnel
126 Short Cases in Clinical Exams of Internal Medicine
Examiner Instructions
This patient complains of tingling in her hands. Could you examine the hands
and tell me the cause?
This patient was referred by her GP for investigation of short stature. Could
you perform a general examination?
Examiner: What do you think is the cause for her hand numbness?
Candidate: Hypocalcemia
Examiner: What is the pathophysiology behind pseudohypo-PTH?
Candidate: Type 1 is inherited as AD. Patients with pseudohypo-PTH develop
resistance to PTH action leading to hypocalcemia, hyperphosphatemia and
increased PTH. The elevated PTH in the blood results from stimulation by
hypocalcemia. Due to tissue resistance to PTH, administration of exogenous
PTH fails to produce adequate phosphaturia and to stimulate kidneys to produce
c-AMP.
Examiner: What are the other causes of short fourth and fifth metacarpal
bones?
Candidate:
• Turner syndrome
• Idiopathic
• Pseudopseudohypo-PTH
• Sickle cell anemia
• Trauma
• Homocystinuria
Examiner: What is the difference between pseudohypo-PTH and
pseudopseudohypo-PTH?
Candidate: In pseudopseudohypo-PTH, there will be morphological features of
pseudohypo-PTH 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
• Thyroid function test (TFT) (hypothyroidism may occur)
• The treatment is administration of calcium and vitamin D to correct
hypocalcemia and suppress the level of PTH (this is the main treatment)
• Genetic and family counseling.
Endocrine, Rheumatology, Connective Tissue and Skin Cases 127
TURNER SYNDROME
How to Examine a Case of Turner Syndrome?
• Wash you hands
• Introduce yourself to the patient and get permission for examination
• Start by inspection: Observe the patient's short stature and webbed neck (note
that you have to obtain proper exposure in order to see the webbed neck)
• Observe the epicanthic folds and ask the patient to open her mouth to look
for a high arched palate
• Observe the presence of a wide carrying angle (cubitus valgus)
• Look at the back of the head for low hair line
• Examine the hands for theshortfourth and fifth metacarpal bones, hypoplastic
nails and the pulse for radio femoral delay
• Tell the examiner that you would like to check the blood pressure, examine
the heart and the chest for widely spaced nipples and shield chest
Important Clues
The three most likely diagnoses if you face a patient with short stature in the exam
are Turner syndrome, pseudohypo-PTH or rarely congenital hypothyroidism.
Common Pitfalls
• Webbing of the neck may not be observed if the neck is covered by upper
clothes
• Candidates tend to forget the risk of osteoporosis associated with Turner.
Examiner Instructions
• This patient complains of back pain, please do a general examination.
• This patient was referred by her GP for investigation of short stature
• This patient was referred by your gynecology colleague for infertility or
amenorrhea
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.
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 aorta.
1 28 Short Cases in Clinical Exams of Internal Medicine
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 on US of this patient?
Candidate: Horse-shoe kidneys
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 LH, FSH and TFT
• Hormone replacement therapy: For development of secondary sexual
characteristics and osteoporosis prevention
• Growth hormone therapy for short stature (children).
DEFORMING ARTHRITIS OF THE HANDS
How to Examine a Patient with Deforming Arthritis of the Hands?
• Wash your hands
• Introduce yourself to the patient
• 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
• Ask the patient to put his/her hands on a pillow for his/her comfort
• Inspect the hands for redness, different types of deformities, muscle wasting,
skin rash, pitting of the nails, onycholysis, gouty tophi or nail fold infarcts
(Figures 5.11 to 5.13).
• Feel the joints for hotness, tenderness and synovial thickening
• Ask the patient to move his/her hands at all joints
• Check hand function. Ask the patient to button or unbutton clothes, write
with a pen and hold a bottle
• Ask the patient to turn his/her hands to keep the palms up and inspect for
wasting
• Check for carpal tunnel syndrome by tapping over the median nerves and
examining the sensation
• Move up to the extensor surface of the arms and elbows to check for
rheumatoid nodules and psoriatic skin rash (Figures 5.14 and 5.15)
Endocrine, Rheumatology, Connective Tissue and Skin Cases 1 29
jm m
FIGURE 5.11 Rheumatoid hand: Observe the hand deformities, ulnar deviation, MCP
subluxation and muscles wasting
<0
s:
FIGURE 5.12 Psoriatic arthritis. Observe deformity of DIP, onycholysis and nail pitting
• Check the ears for tophi (Figure 5.13) and behind the ears and scalp for
psoriasis
• Tell the examiner that you would normally examine the other joints in the
body including the sacroiliac joints and the eyes for episcleritis or uveitis.
Common Pitfalls
• Causing pain to the patient by rough manipulation of hands
1 30 Short Cases in Clinical Exams of Internal Medicine
VIV
1♦ fl V
FIGURE 5.13 Chronic tophaceous gout. Observe the tophi in the hands. Ear lobes should
also be inspected for tophi
»j|W
FIGURE 5.14 Examination of the extensor surface of the forearm and elbow may reveal
rheumatoid nodules
. -N
FIGURE 5.15 Severe psoriatic arthropathy may mimic rheumatoid hand. (Observe the
psoriatic rash)
• 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: How would you investigate this patient?
Candidate:
• CBC, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and
serum urate
• Rheumatoid factor
• Antibodies against cyclic citrullinated peptide (ACCP)
• Joint aspiration:
- RA findings: WBC 1500-25000/cubic mm predominantly PMN and low
glucose
- Gout: Crystals
• HandX-ray/MRl:
- Radiological features of RA include:
♦ Joint space narrowing
♦ Bone erosions (cardinal feature)
♦ Soft tissue swelling
Examiner: How would you treat rheumatoid arthritis affecting the hands?
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-TNF agent, methotrexate, hydroxychloroquine, steroids, leflunomide,
azathioprine, sulfasalazine, etc.).
• Nonsteroidal anti-inflammatory drugs (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 (ACTH)
Endocrine, Rheumatology, Connective Tissue and Skin Cases 1 33
• Prevent recurrent attack (lowering serum uric acid level): Allopurinol (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
How to Examine a Patient with Suspected Ankylosing
Spondylitis?
• Wash your hands
• Introduce yourself to the patient
• It is better that you ask the patient to stand in order to see the typical posture
and perform Schober test and occiput to wall test.
• Inspect the patient for question mark posture with loss of lumbar lordosis and
protruding abdomen (Figure 5.16)
• Ask the patient to move his neck in all directions and observe that the
patient cannot tilt his/her head without moving the whole trunk and there is
limitation of all neck movements
• Perform the Schober test
• Check the occiput to wall distance
• Examine for sacroiliac joint tenderness
• Look at the eyes for the presence of acute uveitis (Figure 5.17)
• Tell the examiner that you would like to examine the chest and heart for
evidence of lung fibrosis and aortic regurgitation.
Common Pitfalls
• Candidates fail to consider ankylosing spondylitis in a patient who cannot tilt
his head
• Failure to recognize the typical posture of a patient with ankylosing spondylitis
• Failure to consider sacroiliitis in the differential diagnosis of back pain
• Failure to perform bedside tests for ankylosing spondylitis.
Examiner Instructions
• This patient complains of low back pain, examine his back
• Have a look at this patient and till me the diagnosis.
Candidate
This patient has features suggestive of ankylosing spondylitis as evidenced by a
1 34 Short Cases in Clinical Exams of Internal Medicine
'
FIGURE 5.16 Ankylosing spondylitis. Observe the typical question mark posture and loss
of lumbar lordosis
There is restriction of the spinal movement in all directions. Occiput wall distance
is about 8 cm and Schober’s test is positive.
Examiner: How do you perform the Schober test?
Candidate: 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 over the line joining the dimples of venus). Make another mark 10 cm
above it in the midline. When the patient bends maximally forward, the distance
between the two points normally exceeds 15 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.
Examiner: How would you test for sacroiliac joint tenderness at the bedside?
Endocrine, Rheumatology, Connective Tissue and Skin Cases 1 35
- 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:
♦NSAID
♦Sulfasalazine
♦ Biologic agents and anti-TNF, e.g. etanercept, adalimumab, etc.
• Surgical:
♦ Total hip arthroplasty, spinal surgery for severe flexion deformities of
spine and cervical fusion for atlantoaxial dislocation.
SYSTEMIC SCLEROSIS
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 for the patient
• Inspect the patient particularly the face for the presence of telangiectasia,
beaked nose, small mouth with puckered appearance and tight skin of the
face.
• Ask the patient to open her/his mouth and ask them to insert three of their
hand fingers into their mouth
• Examine the hands for pulse (Raynaud's phenomenon), presence of tight
and shiny skin, fingertip ulceration and atrophy, contractures and nail fold
infarcts (Figures 5.18 and 5.19). Think of calcinosis if you find hard swellings
in the fingers (Figures 5.19 and 5.20)
• Tell the examiner that you like to ask the patient about dysphagia, symptoms
of Raynaud's phenomenon, examine the chest for evidence of lung fibrosis
and Jugular venus pressure (JVP) for pulmonary hypertension.
Common Pitfalls
• Failure to include Raynaud’s phenomenon in the differential diagnosis of
hand pain
• Failure to include systemic sclerosis in the differential diagnosis of a patient
with dysphagia
• Failure to recognize the facial or hand manifestations of systemic sclerosis
• Failure to recognize the presence of associated keratoconjunctivitis sicca
when the scenario given is for gritty eye sensation
• Failure to recognize features of scleroderma in a chest examination of a
notiont lAntfi Inner fiHrncic
Endocrine, Rheumatology, Connective Tissue and Skin Cases 1 37
A,
V
FIGURE 5.18 Systemic sclerosis. Observe the tight skin, contractures of fingers and finger
tip ulceration
♦
O
FIGURE 5.1 9 Severe systemic sclerosis. Very tight skin, contractures, finger tip ulcerations.
Observe also the presence of calcinosis
Examiner Instructions
• This patient complains of hand pain, examine her hands
• This patient complains of difficulty in swallowing, have a look at her
face/hands
• Have a look at this patient’s face and tell me the diagnosis
• This patient complains of gritty eye sensation, what do you think is the cause?
138 Short Cases in Clinical Exams of Internal Medicine
Candidate
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, calcinosis in the hands. Telangiectasia and
pigmentation (salt and pepper pigmentation) of the skin, small beaked nose and
inability to sufficiently open her mouth with puckering of the mouth and loss
of wrinkling over the face. Her disease seems to be complicated by Raynaud’s
phenomenon, Sjogren's syndrome and impaired hand function.
Examiner: Why do you think this patient is pale?
Candidate:
Anemia in systemic sclerosis may be due to:
• Anemia of chronic disease
• Low vitamin B12 due to malabsorption and bacterial overgrowth
• Iron deficiency anemia secondary to gastrointestinal blood loss due to:
Recurrent esophagitis and gastroesophageal reflux disease (GERD) or
angiodysplasia.
Examiner: What causes interstitial lung disease in scleroderma patients?
Candidate:
• Pulmonary involvement by the disease itself
• Recurrent aspiration due to dysphagia and GERD
• Bronchiectasis
• Drugs used in treatment of scleroderma, e.g. methotrexate
Examiner: What are the other serious pulmonary complications of
scleroderma?
Candidate:
>>*•+•/-*»-» n{ Ar»
Endocrine, Rheumatology, Connective Tissue and Skin Cases 1 39
Common Pitfalls
• Failure to recognize the absence of a radial pulse
• Failure to consider Takayasu’s arteritis in the differential diagnosis of absent
radial pulse in a patient with stroke.
Examiner Instructions
• In this patient with ischemic stroke, please examine his pulse
• Perform a general examination for this patient
• This young patient has hypertension, please undertake a general examination
to establish the cause
Endocrine, Rheumatology, Connective Tissue and Skin Cases 1 41
■■I
'v
FIGURE 5.21 Wrist sign in Marfan’s syndrome
""TO
■
FIGURE 5.22 Thumb sign in Marfan’s syndrome
Common Pitfalls
• Failure to recognize features of Marfan’s syndrome
• Failure to correlate diplopia to lens dislocation
• Failure to recognize features of Marfan’s syndrome in a patient with aortic
regurgitation.
Examiner Instructions
• This patient has diplopia, please examine him
• This patient was referred by his GP for a heart murmur, please do a general
examination.
Examiner: What is the mode of inheritance in Marfan’s syndrome?
Candidate: Autosomal dominant occurring in 1 in 5000. The basic abnormality in
Marfan’s syndrome is mutation in the Fibrillin 1 gene located on chromosome 15.
Endocrine, Rheumatology, Connective Tissue and Skin Cases 1 43
♦
tA
FIGURE 5.23 High arched palate and teeth changes in Marfan's syndrome
• 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 5.22).
• Wrist sign: (thumb and index fingers overlap when encircling the wrist)
(Figure 5.21)
• Pectus carinatum (Figure 1.4)
• Pectus excavatum (Figure 1.3)
• Incisional hernias
• Scoliosis
• Joint hypermobility
• High arched palate (Figure 5.23)
• Dental crowding
Examiner: What are the important causes of chest pain you must consider in
this patient with Marfan’s syndrome?
Candidate:
• Aortic dissection
• Spontaneous pneumothorax.
Examiner: How would you manage this patient?
Candidate:
• Regular ophthalmology follow-up
• Regular cardiology 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).
Examiner Instructions
• Have alook at this patient, what is the diagnosis?
• This patient complains of generalized body aches, please perform general
examination
• Examine the legs of this patient
Examiner: What is the pathophysiologic mechanism underlying Paget’s
disease?
Candidate: The etiology 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 organized 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 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: 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: Paraplegia, quadriplegia
• Cranial nerve deficits
• Osteoarthritis
• High output cardiac failure
• Hypercalcemia from immobilization
• 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
deafness 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?
• Serum ALP: Very sensitive marker, levels are usually very high and correlate
146 Short Cases in Clinical Exams of Internal Medicine
• Plain X-ray of the involved bones: Will show osteolytic and osteosclerotic
changes
• Radionuclide bone scan
• Bisphosphonates are the best and the mainstay treatment: The drug of choice is
a zoledronate (single 5 mg dose IV). They are also used to treat complications
of Paget’s disease such as hearing loss, heart failure, paraplegia from spinal
cord involvement.
Examiner: What is the best treatment for paraplegia caused by spinal cord
compression from Paget’s disease?
Candidate: The best treatment is bisphosphonate
Examiner: What is the mechanism of action of bisphosphonate?
Candidate: Bisphosphonates inhibit osteoclast activity; they have high affinity
for the bones and can remain in the bones for years. They get incorporated into
osteoclasts and inhibit the enzyme famesyl 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. In addition optic atrophy
from compression of the optic nerve may rarely be seen.
HENOCH-SCHONLEIN PURPURA
How to Examine a Case of HENOCH-SCHONLEIN (HS) Purpura?
• Wash your hands
• Introduce yourself to the patient, take permission and maintain patient
dignity during exposure
• Ask the patient if he/she has leg or joint pain before starting the examination
• Make a quick surveillance of the patient and surroundings. Look for steroid
infusions, intravenous immunoglobulin or dialysis machine
• Look for the typical vasculitic rash. The rash is elevated (unlike
thrombocytopenic 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 5.24).
• Look for the site of skin biopsy and swelling of the knee or ankle joints
• Observe for the presence of livedo reticularis 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
• Tell the examiner that you would like to examine the abdomen and check the
Endocrine, Rheumatology, Connective Tissue and Skin Cases 1 47
Common Pitfall
Candidates unable to differentiate vasculitic from thrombocytopenic purpura.
Examiner Instructions
• Examine the lower limbs of this patient
• This patient complains of abdominal pain, examine his legs.
Examiner: Which type of vasculitis is HS purpura?
Candidate: Immune complex-mediated, leukocytoclastic vasculitis affecting
small vessels with dominant IgA deposits (IgA deposition is diagnostic).
Examiner: Why is it called leukocytoclastic?
Candidate: Because there is deposition of neutrophils in the small blood vessels
Examiner: What is the main feature that differentiates HS purpura from other
leukocytoclastic vasculitis?
Candidate: IgA deposition in the small vessels.
Examiner: What other causes of leukocytoclastic small vessel vasculitis do you
know?
Candidate:
• Henoch-Schonlein purpura
• Essential mixed cryoglobulinemia
• Drugs induced
• Infections: Streptococcus, hepatitis B, C, HIV, endocarditis
• Connective tissue diseases: SLE, RA
148 Short Cases in Clinical Exams of Internal Medicine
-•
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 causes of abdominal pain in HS purpura?
Candidate:
• Intestinal edema
• GIT hemorrhage
• Bowl ischemia
• Intussusception
Examiner: What are the complications of HS purpura?
Candidate:
• Glomerulonephritis
• Gastrointestinal hemorrhage
• Bowl ischemia
• Intussusception
• Duodenal obstruction
• Orchitis
• Testicular torsion
• Central nervous system (CNS) involvement: Seizure, ataxia
• Pulmonary hemorrhage
Examiner: How would you diagnose HS purpura?
Candidate:
• Mainly by the classic clinical picture
• Skin biopsy: Characteristic leukocytoclastic vasculitis and deposition of IgA is
diagnostic of HS purpura
• Elevated serum IgA level
• Complete blood cell count
• Urine microscopy
Endocrine, Rheumatology, Connective Tissue and Skin Cases 149
DERMATOMYOSITIS
How to Examine a Case of Dermatomyositis?
• Look at the patient’s face for heliotrope or lilac rash around the eyes and
periorbital edema (make sure you do not miss Cushing’s appearance from
steroid use)
• Look for red or purple rashes over the cheeks, elbows and knees
• Look at the dorsum of the patient’s hands for Gottron’s papules and the nails
for periungual telangiectasias and capillary loops (Figure 5.25)
• Look at the chest for the shawl sign and the V-sign. Shawl sign is a reddish rash
over the area that is usually covered by the shawl (upper back, shoulders, and
back of the neck) (Figure 5.26). V-sign is a similar rash that appears over the
anterior chest in a V-shaped pattern (Figure 5.27)
• Mechanic's hand. Fissured, cracked and roughened hands resembling those
of manual laborers.
• Examine for proximal myopathy
• Tell the examiner that you would like to ask the patient about dysphagia,
muscle pain and examine the chest and abdomen for signs of malignancy.
Common Pitfalls
• Candidates may mistake the skin rash over the dorsum of hands for psoriasis
• Candidates may easily miss the diagnosis when the patient has Cushing's
appearance due to steroid use
• Candidates forgetthe association between dermatomyositis and malignancies
Examiner Instructions
• Look at this patient’s face, what is the diagnosis?
• Examine this patient’s hands
1 50 Short Cases in Clinical Exams of Internal Medicine
- SM
3
s
r J
FIGURE 5.25 Gottron's nodules in dermatomyositis
•
•
* FIGURE 5.27 V-sign in dermatomyositis
Common Pitfalls
• Failure to recognize the presence of telangiectasia in the mouth or on the face
• Mistaking telangiectasia for other unrelated lesions
• Diagnosing hereditary hemorrhagic telangiectasia (HHT) but missing the
presence of pallor.
Examiner Instructions
• This patient complains of epistaxis and melena; please do a general
examination to establish the cause
• This patient was referred because of low Hb. Could you examine him to
determine the cause?
• This patient complains of fatigue, could you perform a general examination
to establish the cause?
FIGURE 5.28 Hereditary hemorrhagic telangiectasia (observe the telangiectasia in the face
"inrl AW +AAAI m\
Endocrine, Rheumatology, Connective Tissue and Skin Cases 1 53
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 tumors)
• Poor examination techniques
• Poor discussion
Examiner Instructions
• This patient complains of skin rash/lesions. Could you examine his skin?
• This patient was referred because of high blood pressure and palpitations.
Could you examine his back and tell me the cause of his hypertension?
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 cafe-au-lait macules >5 mm in greatest diameter in prepubertal
individuals and >15 mm in 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 lesionsuch as sphenoid dysplasia or tibial pseudarthrosis
• A first-degree relative with type 1 neurofibromatosis
Endocrine, Rheumatology, Connective Tissue and Skin Cases 155
nw
(hotness and redness), joint swelling and loss of sensation in the foot with no
or little pain relative to the degree of inflammation
FIGURE 5.29 Charcot joint, toe amputation and healing skin ulcers in a diabetic foot
Endocrine, Rheumatology, Connective Tissue and Skin Cases 1 57
CHARCOT JOINT
Examiner: What pathophysiologic mechanism is responsible for the
development of a Charcot joint in diabetes?
Candidate: Charcot 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 joint?
Candidate:
• Diabetes is the most common cause (Figure 5.29)
• Leprosy
• Syphilis (tabes dorsalis)
• Chronic alcoholism
• Vasculitis
• Syringomyelia
Examiner: Which joints are commonly affected in diabetic patients with
Charcot arthropathy?
Candidate: Mid-foot and ankle joints
Examiner: If you find a Charcot joint in the upper limb, which disease should
you suspect?
Candidate: Syringomyelia is the most common cause of Charcot joint in the
upper limbs. Usually shoulder (rarely elbow)
Endocrine, Rheumatology, Connective Tissue and Skin Cases 159
Examiner: If you find a Charcot joint in the knee, what disease would you
suspect?
Candidate: Tabes dorsalis
Examiner: How would you mange a patient with a Charcot joint?
Candidate:
• Investigations:
- X-ray and MRI to assess the degree of damage and to exclude osteomyelitis
- Check HbAÿ syphilis serology, vasculitic screen and B12 level
• Treatment
- Off loading the foot and avoidance of weight bearing on the affected side
and immobilization of the joint is the most important intervention
- 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
joint.
FURTHER READING
1. Abir R, Fisch B, Nahum R, et al. Turner’s syndrome and fertility: current status and
possible putative prospects. Hum Reprod Update. 2001;7(6):603-10.
2. Alibaz-Oner F, Aydin SZ, Direskeneb H. Advances in the diagnosis, assessment and
outcome ofTakayasu’s arteritis. Clin Rheumatol. 2013;32(5):541-6.
3. American Diabetes Association. Standards of medical care in diabetes 2015. Diabetes
Care. 2015;38:S1-S93.
4. Audemard-Verger A, Piilebout E, Guillevin L, et al. IgA vasculitis (Henoch-
Schonlein purpura) in adults: Diagnostic and therapeutic aspects. Autoimmun Rev.
2015;14(7):579-85.
5. Doi M, Sugiyama T, Izumiyama H, et al.Clinical features and management of ectopic
ACTH syndrome at a single institute in Japan. Endocr J. 2010;57(l2):1061-9.
6. Forbes A, Marie I. Gastrointestinal complications: the most frequent internal
complications of systemic sclerosis. Rheumatology. 2009,48 (suppl 3):iii36-iii39.
7. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and
scientific review. Eur J Hum Genet. 2009;17(7):860-71.
8. Jett K, Friedman IM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med.
2010;12(1):1-11.
9. Katznelson L, Atkinson JL, Cook DM, 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(4):636-46.
10. Kowal-Bielecka O, Landewe 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(5):620-8.
11. Mazen M, Dimachkie and Richard J. Barohn. Idiopathic Inflammatory Myopathies.
Semin Neurol. 2012;32(3):227-36.
1 60 Short Cases in Clinical Exams of Internal Medicine
DIABETIC RETINOPATHY
Examiner: What factors determine the development of diabetic retinopathy?
Candidate:
• Poor glycemic 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 nonproliferative diabetic retinopathy?
Candidate: Yes, usually due to macular edema.
Examiner: What do you mean by the following terms?
Candidate:
• Microaneurysms: The earliest clinical sign of diabetic retinopathy. They occur
secondary to capillary wall out pouching due to pericyte loss and appear as
small red dots in the superficial retinal layers
• Dot and blot hemorrhages: 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 hemorrhages: Larger hemorrhages than dots and blots that
occur in the superficial nerve fiber layer
• Hard exudates: Caused by leakage of proteinaceous material and lipids from
the vessels
• Cotton-wool spots: Represent ischemia and infarction of the nerve fiber layer
from the occlusion of precapillary arterioles.
Examiner: How is diabetic retinopathy classified?
Candidate:
• Nonproliferative diabetic retinopathy (NPDR) (Figure 6.1)
- Mild: At least one microaneurysm
\jfr\sJnvsttry Uorr» /vrrV» QfTDC mirmÿnPlin/CmC flnH VlPirH PYllHfitPS
Fundus Cases 163
FIGURE 6.2 Proliferative diabetic retinopathy. Observe the new vessel formation (hallmark
of proliferative retinopathy)
FIGURE 6.3 Typical laser burn (scar) appearance for diabetic retinopathy
HYPERTENSIVE RETINOPATHY
OPTIC ATROPHY
FIGURE 6.4 Optic atrophy. Observe the pale and bright looking disc with well demarcated
margins
- Glaucoma
- Ethanol
- Neurosyphilis and neurosarcoidosis
—
- DIDMOAD the association of Diabetes Insipidus, Diabetes Mellitus,
Optic Atrophy and Deafness
- Leber's optic atrophy.
PAPILLEDEMA
Examiner: What is the earliest fundoscopic finding in papilledema?
Candidate: Loss of venous pulsation.
Examiner: What are the other fundoscopic findings in papilledema?
Candidate:
Fundus Cases 167
RETINITIS PIGMENTOSA
Important clue: If you see trabecular bone-like lesions that are pigmented in the
periphery of retina, it is retinitis pigmentosa (RP) ( pieces of the femoral head in the
retina) (Figure 6.6).
Examiner: What are the typical symptoms caused by RP?
Candidate: The most common symptoms include difficulty seeing at night
fbecause the rods lie more oeriDherallv) and a loss of peripheral vision (tunnel
168 Short Cases in Clinical Exams of Internal Medicine
the retina. This electrical stimulation of the retina is recognized by the brain as
spots of light.
FURTHER READING
1. American Diabetes Association. "9. Microvascular Complications and Foot Care.”
Diabetes Care 38. 2015;1:S58-S66.
—
2. 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.
3. Grading diabetic retinopathy from stereoscopic color fundus photographs— an
extension of the modified Airlie House classification. ETDRS report number 10.
Early Treatment Diabetic Retinopathy Study Research Group. Ophthalmology.
1991;98:786-806.
4. Lihteh Wu, Priscilla Fernandez-Loaiza, et al. Classification of diabetic retinopathy
and diabetic macular edema. World J Diabetes. 2013;4(6):290-4.
5. Querques G, Triolo G, Casalino G, et al. Retinal venous occlusions: diagnosis and
choice of treatments. Ophthalmic Res. 2013;49(4):215-22.
Fundus Cases 171
A Arthritis
Abdomen 41 ofhands 128
dilated veins over 44/ deforming 128
treatment, acute 132
Abdominal cases 41
Abdominal discomfort 65 Ascites 67
Abdominal pain, causes of 66, 148 cause of 67
Abscess 167 in liver cirrhosis 69
Acanthosis nigricans 120/ sign for 69
Accessory nerve 94 Asymmetrical chest 36
Acquired aortic stenosis 13 Atrial fibrillation 6, 7, 20
Acromegaly, causes of 121 causes of 21, 20
Actinobacillus 22 Atrial myxoma, left 7
Adult polycystic kidney disease 57 Atrial septal defect 18
Allergic alveolitis, extrinsic 30 complications of 19
Alport syndrome 61 types of 18
Amyotrophic lateral sclerosis 86 Attium, left 7
Anemia 46 Austin-flint murmur 11
in myelofibrosis 64 Autoimmune hepatitis 48
Angiotensin converting enzyme Autonomic neuropathy 157
inhibitors 49
Ankle joints 158
B
Ankylosing spondylitis 10, 133, 134/ 135 Babinski sign 81/
complication of 134/ 135 Basal crackles, bilateral 28
Antibiotic Becker sign 11
in cystic fibrosis 28 Behcet's disease 170
prophylaxis 8 Bell’s palsy 98
Anti-cholinergics 110 complications of 98
Antimitochondrial antibody 48 prognosis of 98
Antinuclear antibodies 48 Bell's phenomenon, bilateral 97/
Antismooth muscle antibodies 48 Benztropine 110
Antithyroid drugs 117 Beta-thalassemia 56
pretreatment with 117 major, complications of 56
Aortic dissection 10 Bevacizumab 164
Aortic regurgitation 10 Bilateral crackles 28
causes of 10 Biliary cirrhosis, primary 43/ 48, 51, 53/
complications of chronic 11 symptoms of 52
severity of 11 Bioprosthetic valve 16
signs in 11 Bisphosphonate, action of 146
surgery in 12 Blood
Aortic root disease 10 flow, direction of 44/
Aortic sclerosis 13 pressure 157
Aortic stenosis 12, 13 diastolic 11
causes of 13 systolic 11
severity of 14 transfusion 57
surgery in 14 Boutonniere’s deformity 131
symptoms in 13 Branch retinal vein occlusion 169/
Aortic valve 13 Bronchiectasis 31
Aphrophilus 22 causes of 31
Arovll Rohprtsnn nunils 85 comDlications of 31
1 74 Short Cases in Clinical Exams of Internal Medicine
-•
Bronze diabetes 50 Cubitus valgus 127
Bulbar palsy, progressive 86 Cushing's syndrome 41, 59, 122, 122/ 124
Burkholderia cepacia 33 causes of 123
Cyanosis 27/
c Cystic fibrosis 32,33
Calcinosis in systemic sclerosis 138/ abnormality in 32
Cardiac complication 57 infections in 33
Cardiac death 13 Cystic hygroma 114/
Cardiac manifestations 143
Cardiobacterium 22 D
Cardiovascular cases 1 De Musset sign 11
Carotid aneurysm 99 Deafness 168
Carpel tunnel syndrome 119 Dermatomyositis 149
Catechol O - methyltransferase Shawl sign in 150/
inhibitors 110 V-sign in 151/
Cauda equina syndrome 135 Devic syndrome 84
Cavernous sinus 95 Dextrocardia 19
Cell lung cancer 123 in adults 19
Central nervous system 83 Diabetes 78
Central retinal vein occlusion 169,169/ mellitus 94
Cerebellar Diabetic dermopathy 4/ 89/
ataxia 168 Diabetic foot 156/157
disease 102 arthropathy 156
function 102 neuropathy 156
syndrome 101 ulcer 157
system 101 Diabetic leg 156
Cerebrospinal fluid absorption, Diabetic macular edema, treatment
decreased 167 for 164
Cervical myelopathy, sign in 87 Diabetic neuropathy 157
Charcot joint 85, 156, 156/ 159 symptoms to 157
causes of 158 Diabetic retinopathy 162, 164,165/
in diabetes 158 development of 162
in knee 159 nonproliferative 163/
Charcot-Marie-tooth 91 photocoagulation for 164
disease 77/ proliferative 163/
signs of 88 signs of 162
Chest pain, causes of 144 Diffuse goiter 114/
Cholestatic jarmdice 53/ Diphtheria 88
Chylous ascites 68 Diplopia of myasthenia 104
causes of 68 Dot and blot hemorrhages 162
Cirrhodc ascites 71 Down’s syndrome, signs of 16
Claw hands 80/ 89/ Dubin-Johnson syndrome 55
Colonic angiodysplasia 13 Dupuytren's contracture 43/
Complete blood count 48 Duroziezsign 11
Congenital bicuspid valve 10 Dysarthria 102
Connective tissue 113 Dyspnea 122
Cor pulmonale 27
Cord compression 82 E
Cornea 114/ Earlobes 130/
Coronary syndrome, acute 9 Eaton-Lambert syndrome 104
Cotton-wool spots 162 Ehlers-Danlos syndrome 10
Cough 28 Eikenella 22
Cranial nerve examination 93 Eisenmenger complex 18
Cranial nerve palsy 93 Endocrine 113
4 irrvOi QO
Index 175