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CARDIO
1. Mitral regurgitation 2
2. Mitral valve prolapse 7
3. Mitral stenosis 8
4. Aortic regurgitation 10
5. Aortic stenosis 12
6. Mixed mitral valve disease 14
7. Mixed aortic valve disease 15
8. Prosthetic heart valves 16
9. VSD 18
10. ASD 20
11. HOCM 22
12. Approach to central cyanosis and clubbing 24
13. Dextrocardia 25
RESPI
14. Bronchiectasis 26
15. Interstitial lung disease 30
16. COPD 33
17. Pleural effusion 35
18. Collapse 38
19. Consolidation 40
20. Lobectomy/Pneumonectomy 44
21. Approach to lateral thoracotomy scar 45
22. Lung transplant 46
ABDO
23. Chronic liver disease 48
24. Hepatomegaly 54
25. Splenomegaly 56
26. Hepatosplenomegaly 58
27. Ascites 60
28. Unilateral enlarged kidney 63
29. Bilateral enlarged kidney 64
30. Transplanted kidney 67
NEURO
31. Approach to examination of the face 70
32. Cranial nerve syndromes 71
33. Isolated III nerve palsy 74
34. Isolated VI nerve palsy 76
35. VII nerve palsy 79
36. Myasthenia gravis 82
37. Approach to examination of the eyes 85
38. Gaze palsies 86
39. Unilateral ptosis 87
40. Bilateral ptosis 89
III, IV and VI cranial nerve palsies (33, 34, 35)
41. Assessment of higher cortical function 90
UPPER LIMBS (NEURO)
42. Upper limbs overview 92
43. Radial nerve palsy 94
44. Median nerve palsy 96
45. Ulnar nerve palsy 99
46. Wasted hands 101
Peripheral neuropathy (54)
47. Syringomyelia 104
48. Dystrophica myotonica 106
49. Cerebellar signs 109
50. Chorea 114
Parkinsonism (61)
CARDIO!
1. Mitral Regurgitation
Presentation
Sir, this gentleman has mitral regurgitation that is moderately severe in nature.
There is a pansystolic murmur heard best at the apex which radiates to the axilla. (If it radiates to the carotids posterior mitral
leaflet rupture) This is a grade 3/6 murmur and is not associated with a systolic thrill. The first heart sound is soft and there is
presence of a third heart sound(S3). I did not detect any mid-diastolic murmur. The apex is thrusting and displaced, located at the
th
6 IC at the anterior axillary line.
This is complicated by pulmonary hypertension as evidenced by a palpable and loud pulmonary component of the second heart
sound associated with a left parasternal heave. There are no clinical signs of heart failure.
On the peripheral examination, patient is in atrial fibrillation with an irregularly irregular pulse which is rate controlled at 80 beats per
min. There is no bruising to suggest overanticoagulation. There are also no stigmata of infective endocarditis.
To complete the examination, I would like to take the patients blood pressure, as well as temperature chart for any fever. (Mention
abdominal examination, urine dipstick and fundoscopy if clinically suggestive of IE)
In summary, this gentleman has mitral regurgitation that is moderately severe in nature, with complication atrial fibrillation and
pulmonary hypertension. There are no complications of heart failure or infective endocarditis. My differential diagnoses include IHD,
MVP and Rh heart disease. (If thoracotomy scar, think of mitral valvotomy for MS)
Questions
How do you grade the severity of mitral regurgitation clinically?
Mild No Pulm hypt
Moderate Pulmonary hypertension
Severe LVF, S3
What are the causes of mitral regurgitation?
Common causes are MVP, IHD, Rh heart disease and endocarditis
Left ventricular dilatation, cardiomyopathy, Marfans, Rheumatoid, AS
Acute causes: MI, IE, Trauma, Surgery, spontaneous rupture
Anterior leaflet: radiates to axilla and back
Posterior leaflet: radiates to carotids
Mitral valvotomy if a thoracotomy scar seen
If elderly and mild to moderate, typically due to annular calcification
What are the differential diagnoses for a pansystolic murmur?
MR
TR
VSD
What congenital conditions can be associated with MR?
Corrected TGA
Partial AV canal
Ostium primum atrial defect (cleft mitral valve)
What causes a third heart sound?
Rapid filling of the left ventricle from the large volume of blood from the left atrium occurring in early diastole
Why is the pulse jerky?
Pulse is sharp and abbreviated due to lack of sustained forward stroke volume with a reduced systolic ejection time because of
regurgitant leak into the left atrium
How do you differentiate an MDM from severe MR vs MS?
MS has an opening snap
Severe MR associated with S3
MS murmur is longer
MS has loud S1
How do you differentiate between MR and TR murmur?
Mitral Regurgitation
Triscupid Regurgitation
PSM heard best at Apex
PSM heard best at the LLSE
Radiates towards the axilla
Radiates towards the right of sternum
Louder on expiration
Louder on inspiration
Displaced apex beat
Apex beat not displaced
Jerky pulse character
Normal pulse character
Normal JVP unless complication
Giant V wave with pulsatile liver
When and how should you prophylax against IE? (3 steps: Risk stratify, Type of Procedure and Type of antibiotics)
Risk stratify
Highest risk: prosthetic valves, both bioprosthetic and mechanical; previous IE; congenital cyanotic heart disease; or
surgically produced systemic/pulmonary shunts.
Moderate risk: (1) all other congenital cardiac conditions, except isolated secundum atrial septal defects and surgical
repairs of an atrial septal defect or patent ductus arteriosus or ventricular septal defect more than 6 months ago; (2)
acquired valvular dysfunction (eg, rheumatic heart disease, calcific aortic stenosis); or (3) hypertrophic cardiomyopathy
and mitral valve prolapse with valvular regurgitation and/or thickened leaflets. Thickening of the anterior leaflets of the
mitral valve correlates with significant mitral insufficiency, especially in men older than 45 years.
Low risk: mitral valve prolapse without significant regurgitation or thickened leaflets on echocardiography, implanted
cardiac PMs, implanted defibrillators, implanted coronary stents, or "innocent" murmurs. An important caveat is that in
elderly individuals, an innocent murmur may not be hemodynamically significant but may signify the presence of a calcified
leaflet that is susceptible to infection during a transient bacteremia.
Procedures that require antibiotic prophylaxis in high-to-moderate risk patients are as follows:
Invasive manipulation of the respiratory tract (eg, tonsillectomies, rigid bronchoscopy)
Gastrointestinal surgery, biliary tract surgery, sclerotherapy of esophageal varices, dilatation of esophageal
strictures, and endoscopic retrograde cholangiopancreatography in the presence of biliary obstruction
Prostate surgery, cystoscopy, and urethral dilatation
Generally, hysterectomies, vaginal delivery, cesarean delivery, urethral catheterizations, dilation and curettage,
therapeutic abortions, sterilization procedures, insertion or removal of intrauterine devices, cardiac catheterizations,
angioplasties, or endoscopies with or without biopsies do not require prophylaxis.
Adult antimicrobial IE preventive regimens for dental, oral, respiratory tract, or esophageal procedures recommended by the
American Heart Association to prevent streptococcal IE from oral-dental sources are as follows:
Administer amoxicillin at 2 g orally 1 hour before the procedure or ampicillin at 2 g IM or IV 30 minutes before the
procedure.
If the individual is allergic to penicillin, clindamycin at 600 mg, cephalexin at 2 g, or azithromycin at 500 mg orally 1
hour before the procedure are alternatives.
If the individual is allergic to penicillin and is unable to take oral medication, clindamycin at 600 mg IV or cefazolin at 1
g IM or IV should be given 30 minutes before the procedure.
Adult IE prophylactic regimens for individuals undergoing lower gastrointestinal tract surgery or instrumentation of genitourinary
tract procedures are for preventing enterococcal endocarditis. They are as follows:
High Risk regimens recommended by the American Heart Association are ampicillin at 2 g IM or IV plus gentamicin at
1.5 mg/kg (not to exceed 120 mg) within 30 minutes of the procedure, followed by ampicillin at 1 g IM, IV, or orally 6
hours later.
High-risk individuals who are allergic to penicillins should receive vancomycin at 1 g IV over 1-2 hours plus gentamicin
at 1.5 mg/kg IV or IM (not to exceed 120 mg) within 30 minutes of starting the procedure.
For moderate-risk patients, amoxicillin at 2 g orally 1 hour before the procedure or ampicillin at 2 g IM or IV within 30
minutes of starting the procedure is recommended.
The alternative for patients who are allergic to penicillin who are at moderate risk is vancomycin at 1 g IV over 1-2
hours, completed 30 minutes before the procedure.
What is the prognosis?
Depends on underlying cause
If IHD or dilated CMP, Px dependent on the underlying disease
If due to MVP
Asymptomatic regurgitation is a serious disease with a 5-yr death rate of 22-33% form cardiac adverse events
3. Mitral Stenosis
Presentation
Sir, this patient has mitral stenosis which is severe in nature with complications of infective endocarditis and congestive cardiac
failure.
There is presence of a mid diastolic murmur heard best at the apex and is accentuated in the left lateral position. It is a grade 3/6
murmur and is not associated with any diastolic thrill. It is severe as it is associated with an early opening snap and a long mid
diastolic murmur. The first heart sound is also loud. The apex beat is tapping in nature and is not displaced, located just medial to
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the mid-clavicular line in the 5 intercostal space.
There is associated pulmonary hypertension with a palpable pulmonary component of the second heart sound with left parasternal
heave. There is a loud pulmonary component of the second heart with a presence of a functional TR as evidence of PSM at the
LLSE that is louder with inspiration associated with a giant V wave which is elevated at 5cm. There is no associated Graham Steel
murmur (PR).
This is associated with congestive cardiac failure with bilateral basal crepitations and bilateral pedal edema.
Examination of the peripheries reveals evidence of stigmata of infective endocarditis. Patient is clubbed with Janeway lesions on
the palms and Oslers nodes noted on the pulp of the fingers. There are also splinter haemorrhages with presence of conjunctival
pallor. There is presence of a peripherally inserted central catheter suggesting use of long term antibiotics. The patient is on IV
cloxacillin suggesting that the infective organism is MSSA. There is complication of atrial fibrillation. The HR is irregularly irregular
with a rate of 84 bpm. There is a characteristic pulsus parvus pulse. There are no bruises to suggest overanticoagulation.
I did not notice any mitral facies. The patients voice is also not hoarse which may suggest Ortners syndrome.
(mention the lateral thoracotomy scar with possible mitral valvotomy as intervention)
I would like to complete the examination by looking at the patient temperature chart as well as taking the patients BP.
In summary, this patient has MS that is severe in nature with complications of atrial fibrillation, pulmonary hypertension congestive
cardiac failure and infective endocarditis secondary to MSSA. The possible causes for MS include rheumatic heart disease or
congenital parachute valves.
Questions
How do you grade the severity of MS clinically?
Mild no PHT
Moderate PHT
Severe - CCF
What are your differentials for a mid-diastolic murmur?
MS
Atrial myxoma
Ball-valve thrombosis
Flow across the TV in ASD
MR with increased flow through the mitral valve during diastole
Austin Flint murmur (in severe AR)
What are the causes of mitral stenosis?
Common
Rheumatic heart disease
Congenital parachute valve
Rare
Calcification of mitral annulus and leaflets
CTDs: SLE, RA
Carcinoid (malignant)
What causes a tapping apex beat?
An accentuated first heart sound
What causes an opening snap?
Opening of a stenosed mitral valve and indicates that leaflets are pliable
Why is the first heart sound loud?
The mitral valve is held open during diastole by the transmitral gradient. The valve is suddenly slammed shut during ventricular
contraction
What causes presystolic accentuation of the murmur?
Occurs in sinus rhythm only during atrial systole which increases flow from the LA to the LV through the stenotic valve
How do patients present?
Asymptomatic
Women, may have h/o RH heart disease
Symptoms ppt especially during pregnancy or development of AF
Usually left-sided heart failure: exertional dyspnea, PND, orthopnea
Less frequently with right sided heart failure, hemoptysis and hoarseness of voice, although this symptoms are more specific
4. Aortic Regurgitation
Examination
Proceed as per cardiovascular examination
On detecting AR, to examine eyes for Argyll-Robertson pupil and auscultate the femorals for pistols shots (Traube sign) and
Duroziez sign.
Presentation
Sir, this patient has aortic regurgitation that is severe.
My findings are:
Presence of a high-pitched early diastolic murmur heard best at the left lower sternal edge and is loudest at end expiration with the
patient sitting forwards. It is a grade 4/6 murmur and is associated with a diastolic thrill. It is severe as the murmur is of a long
duration associated a soft second heart sound with a S3 present. There is also an Austin Flint murmur with presence of a mid
diastolic murmur heard at the apex not associated with an opening snap.
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The apex beat is displaced at the 6 IC anterior axillary line and is thrusting in nature.
This is associated with evidence of CHF with bibasal crepitations, raised JVP at 4 cm with a prominent V wave as well as bilateral
peal edema.
Peripheral examination showed no evidence of IE. The pulse is bounding and collapsing in nature at a rate of 90 bpm in SR. There
is no RR or RF delay to suggest coarctation of the aorta. In addition, quinkes sign was negative.
There was no conjunctival pallor but Corrigans sign and brachial dance were present. Mullers sign, Duroziez and Traubes signs
were not detected.
In terms of etiology, there is no evidence of symmetrical deforming polyarthropathy to suggest RA and patient does not have a
Marfanoid habitus or a high arched palate. There is no Argyll-Robertson pupil to suggest lewitic disease.
To complete my examination, I would like to take patients BP looking for wide pulse pressure and severe hypertension. I would
also want to look at the patients temperature chart.
In summary, this patient has got AR that is severe with complication of CCF. Possible causes for this patients AR are Rh heart
disease, infective endocarditis or congenital bicuspid valve.
Questions
What are the signs of severity of AR?
S3
Austin Flint murmur (functional mdm at the apex due to regurgitant jet striking the anterior leaflet of the MV, therefore
obstructing flow from the LA into the LV)
Soft S2
Duration of the decrescendo murmur and loudness of murmur (cf with AS)
Apex beat displaced and thrusting
CCF
Wide pulse pressure
Hills sign
What are the characteristic signs of AR?
Collapsing pulse
Brachial dance
Quinkes sign (visible capillary pulsation in the nail bed)
Corrigans sign (Visible Carotid pulsation in the neck)
De Mussets sign (head nodding in time with the heart beat
Mullers sign (pulsation of the uvula)
Traubes sign(pistol shots) and Duroziez sign(to and fro murmur on sl compression of the femoral artery)
What are the causes of a collapsing pulse?
AR
PDA
An aortopulmonary window
A ruptured aneurysm of the aortic sinus
Active Pagets
High fever
Severe Anaemia
Pregnancy
What would you expect to find on taking this patients blood pressure?
Wide pulse pressure
Severe hypertension (with functional AR)
UL and LL discrepancy with systolic in LL>UL = Hills sign
How do you differentiate an Austin Flint murmur from mitral stenosis?
Opening snap
Loud S1
Tapping apex beat, which is not displaced
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5. Aortic Stenosis
Presentation
Sir, this patient has Aortic stenosis that is severe in nature.
My findings include:
Presence of an ejection systolic murmur heard best at the aortic area and radiates to the carotids. It is a grade 4/6 systolic murmur
a/w with a systolic thrill. It is severe as there is an early ejection click a/w a long systolic murmur with delayed peaking of the
murmur. I could not detect an S4 and the second heart sound is soft. There was also no paradoxical splitting of the second heart
sound.
th
The apex beat is heaving in nature and is displaced, located at the 6 IC space at the just lateral to the mid-clavicular line.
This is associated with signs of congestive cardiac failure as evidenced by presence of bibasal crepitations, raised JVP at 3 cm with
prominent V wave and bilateral pedal edema but she does not require supplemental oxygen.
Peripheral examination does not reveal any stigmata of IE. The pulse is regular at 84bpm and is anacrotic/pulsus parvus et tardus
in nature. There are no features suggestive of haemolytic anaemia with no conjunctival pallor and patient is not jaundice.
I would like to complete my examination by taking the patients blood pressure to look for a narrow pulse pressure as well as his
temperature chart. I would also like to enquire on patients symptoms of angina, syncope and dyspnea as these are important
prognostic markers.
In summary, this patient has got aortic stenosis that is severe in nature with complication of congestive cardiac failure. There is no
evidence of infective endocarditis or haemolytic anaemia. The most likely causes include Rh heart disease, calcified biscupid aortic
valve or degenerative calcified aortic valves.
Questions
What are the differential diagnoses for an ejection systolic murmur?
AS
PS
HOCM
MVP/MR
Coarctation
How do you differentiate between them?
AS and PS expiration and inspiration
AS and HOCM Valsalva, squatting
AS and MVP location and clicks
AS and Coarctation differential pulse
What are the types of pulses associated with aortic stenosis?
Pulsus parvus et tardus means low volume pulse with delayed upstroke due to a reduction in systolic pressure and a gradual
decline in diastolic pressure
Anacrotic pulse small volume pulse with a notch on the upstroke
What does a normal pulse volume in AS mean?
The travsvalvular gradient is <50 mmHg
What does a palpable systolic thrill implies?
It means that the transvalvular gradient is > 40mmHg
What does the second heart sound indicate about the aortic stenosis?
Soft second heart sound means poorly mobile and stenotic valve
Reversed splitting means mechanical or electrical prolongation of ventricular systole; S2 is normally created by the closure of the
aortic valve followed by the pulmonary valve, if the closure of the aortic valve is delayed enough, it may close after the pulmonary,
creating an abnormal paradoxical splitting of S2.
Single second heart sound implies fibrosis and fusion of the leaflets
Normal second heart sound implies insignificant stenosis
What is Gallavardin phenomenon?
Systolic murmur may radiate towards the apex, which may be confused with a MR murmur
How can haemolytic anaemia result from aortic stenosis? MAHA from severely calcified aortic valve
What are the causes of aortic stenosis?
Rheumatic heart disease (<60), Degenerative calcification (>75), Calcified biscupid (60-75, males)
What are the severity markers?
Early ejection click
Long Systolic murmur
Late peaking of the murmur
4th heart sound
Paradoxical splitting of S2
Heaving apex beat which is displaced
Systolic thrill
Px
5 years
3 years
2
years
12
Severity
Mild
Moderate
Severe
Critical
Complications eg IE
Area
>1.5
1-1.5
<1
<0.7
Transvalvular gradient
<25
25-50
50-80
>80
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Presence of a PSM heard best at the apex; 4/6 murmur and is associated with a systolic thrill. There is a soft first hearts
sound and a presence of a third heart sound. There is also a MS as evidenced by MDM heard best at the apex at the left
lateral position. It is associated with a late opening snap and short mdm.
Apex
CCF, Pulmonary hypt
IE, AF
Lateral thoracotomy scar
Marfans and SLE
Requests
In summary
Questions
What is the significance of a third heart sound in mixed mitral valve disease?
o Presence of S3 implies no significant MS
What are the causes?
o Rheumatic heart disease
o MS with valvotomy done that has been complicated by MR
What are the frequencies of valvular involvement in rheumatic heart disease?
o MV 80%
o AV 50%
o Mixed MV and AV 20%
o TV 10%
o PV -1%
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Presence of an EDM heard best at the LLSE and is loudest in expiration with the patient sitting forwards. It is a grade 3/6
murmur as it is not asssociatd with ay diastolic thrill. The second heart sound is soft and there is no third hear sound.
There is also no mdm at the paex to suugest an Austin Flint murmur.
There is also an ESM heard best at the aortic area that radiates towards the carotids. It is a grade 2/6/ murmur and is not
associated with any systolic thrill. (skip the severity markers for AS)
Apex
CCF
IE, SR, collapsing, brachial dance and Corrigans
No quinke, mullers de Mussets, Duroziez and Traubes
No Marfans, AS or RA
Requests for BP especially for a wide pulse pressure, temperature chart.
In summary
Question
What are the causes of a mixed aortic valvular lesion?
o Rheumatic heart disease
o Biscupid aortic valve
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Questions
What are the indications of a mitral/aortic valve replacement?
o See respective MS/MR/AS/AR
What are the types of prosthetic valves?
Mechanical valves
Ball and cage valve (Starr-Edwards)
Single tilting disc (Bjork-Shiley)
Double tilting disc (St Jude)
Bioprosthetic Homograft or heterograft
What are their differences?
Duration
Mechanical valves last 20-30yrs
Bioprosthetic may fail within 10-15 years
Thrombogenecity
Mechanical require lifelong anticoagulation (Starr-Edwards>single disc>double disc)
Bioprosthetic does not require lifelong anticoagulation
Therefore in the young and those who already require long term anticoagulation, mechanical valves preferred
And in the elderly(lifespan <10-15 years) or those that cannot tolerate anticoagulation, bioprosthetic valve preferred
What are the complications?
Complications of prosthesis
Valve leakage (mild- hemolytic anaemia, severe CHF)
Valve thrombosis
Valve strut failure (rare, acute presentation with high mortality, Bjork-Shiley)
Hemolytic anaemia (from valvular leakage due to partial dehiscence; Rx with Fe, folate, transfusions, B blockers or if fit for
op, repair of valve replacement)
Complications of valvular heart disease
Infective endocarditis
Congestive cardiac failure
Thromboembolism (rule out IE and thrombosis)
Complications of management
Overanticoagulation
Bleeding
What are the causes of anaemia in such patients?
Bleeding from anticoagulant
Hemolytic anaemia
Infective endocarditis
How do you tell clinically that the valve has malfunction?
New murmur
Change in characteristic of a preexisting murmur
Change in intensity or characteristic of an audible sound
How would you investigate a patient suspected of having valve dysfunction?
Cinefluoroscopy rapid, fast ad inexpensive for structural integrity
TTE often difficulty study due to reverberations from the metal
TEE useful for assessing MV prosthesis but limited in AV prosthesis
Can MRI be done for a patient with mechanical heart valves?
Yes it is safe except those with pre 6000 Starr-Edwards prosthesis (1960-64)
Valve thrombosis
Up to 5% per patient-year
Factors inadequate anticoagulation and mitral location
Manisfest as
pulmonary congestion, poor peripheral perfusion or systemic embolisation, acute deterioration
Change in audible sounds or murmur
Ix shows reduced movement of the disc or poppet, reduced orifice area, increased regurgitation or transvulvular pressure
Mx
<5mm IV heparin
>5mm Fibrinolysis (if high operative mortality) or valve replacement
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9. VSD
(Clue: Young patient; look for associated conditions of Down and Fallots Tetrology)
Presentation
Sir, this patient has got a Ventricular Septal Defect that is hemodynamically significant as evidenced by:
Presence of a pan-systolic murmur heard best at the left lower sternal edge with radiation towards the right side of the sternum.
This murmur can be heard at the apex but there is no radiation to the axilla. It is louder on expiration. It is a grade of 5/6 murmur
and is associated with a systolic thrill. The first heart sound is not soft. I did not detect any third heart sound.
I did not detect any early diastolic murmur at the left lower sternal edge to suggest an associated AR. This is also no associated
mid-diastolic apical rumble at the apex to suggest a flow murmur at mitral valve which can be a/w VSD.
th
Apex beat is displaced and is located at the anterior axillary line at the 6 IC. It is thrusting in nature.
No evidence of Eisenmengers syndrome such as central cyanosis, clubbing. There is evidence of pulmonary hypertension such as
palpable or loud P2, no parasternal heave.
There are no signs of CCF such as bilateral pedal edema, no basal crepitations or raised JVP; she is comfortable at rest with a RR
of 14 bpm and does not require any supplemental oxygen.
There is no peripheral stigmata of IE. The pulse is regular at 70 bpm and character of the pulse is normal. There are no feat ures to
suggest Down syndrome or (Turner syndrome - if female).
I would like to complete my examination by looking at the patients temperature chart and taking his blood pressure.
In summary, this young man has got a VSD that is severe with a displaced apex beat and is complicated by pulmonary
hypertension. Clinically, there is no heart failure or Eisenmengers syndrome or IE. The most likely cause is congenital VSD.
Dy/Dx MR, TR, VSD For VSD, murmur radiates to the right of the sternum, young patient and a palpable thrill
Questions
What are your differential diagnoses for a PSM?
o MR PSM at apex radiates towards the axilla, soft S1
o TR PSM heard at the triscupid area, louder on inspiration; usually secondary to pulmonary hypertension or seen in
IVDAs; Giant V wave, pulsatile liver
o VSD PSM heard at the LLSE which is louder on expiration
What are the causes of a VSD?
o Congenital
o Acquired: MI
How common is VSD?
o The most common congenital heart condition
o 2 per 1000
o Usually in the membranous portion (can also be found in the muscular)
o Small defects close spontaneously in early childhood in about 50%
What are the types of VSD?
o Supracristal (above the crista supraventricularis)
o Infracristal
o Upper membranous
o Lower muscular (<5%)
o Different morphology
o Maladie de Roger
o Swiss cheese
o Large
o Gerbode defects (opens into the RA)
What are the conditions in which VSD is part of?
o Fallots tetralogy
o Truncus arteriosus
o AV canal defects
o DORV (double outlet RV)
What are the complications of VSD?
o AR
o Pulmonary Hypt
o Eisenmengers complex
o CCF
o IE
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10. ASD
Presentation
Sir, this patient has atrial septal defect as evidenced by presence of a wide and fixed splitting of the second heart sound.
There is presence of an ejection systolic murmur over the pulmonary area which is louder on inspiration, implying presence of a
pulmonary systolic murmur. This is a grade 3/6 murmur and there is no associated systolic thrill.
There is no associated mid-diastolic flow murmur to suggest relative tricuspid stenosis or Lutembachers syndrome (Acquired MS
and ASD). There was also no associated PSM to suggest an ostium primum defect (TR, MR, VSD).
th
The apex beat is not displaced and is located in the 5 IC space just medial to the mid-clavicular line.
There is no complication of Eisenmengers syndrome; there is no evidence of pulmonary hypertension; is not clubbed and no
central cyanosis. There is also no evidence of congestive cardiac failure.
There are no stigmata of infective endocarditis. Patient is in atrial fibrillation with an irregularly irregular pulse and is rate controlled
at a rate of 84 bpm; there are also no bruises to suggest over-anticoagulation.
There is no evidence of any thumb defects to suggest Holt-Oram syndrome. The patient also does not features of Downs
syndrome.
I would like to complete my examination by examining patients chest for pneumonia as patients are prone to recurrent chest
infections as well as a neurological examination to look for evidence of stroke due to paradoxical embolus.
In summary, this patient has got an ASD with complications of AF. There are no complications of pulmonary hypertension, heart
failure or Eisenmengers syndrome. There is also no infective endocarditis. This patient has ASD is most likely due to an ostium
secundum atrial septal defect which is a congenital heart condition.
Questions
What are the types of ASDs?
o Ostium secundum type
o 90%
o common congenital heart condition
o Most remain asymptomatic
o If small <2 cm, normal life expectancy with no symptoms
o Larger defects may present in the second or third decades with dyspnea or fatigue
o defect in the fossa ovalis with no involvement of the AV valves
o Ostium primum type
o 10%
o Failure of fusion of the septum primum with the endocardial cushions
o AV valves affected MR, TR and VSD
o Sinus venosus type
o Defect in the septum just below the entrance of the SVC (inverted P waves in the inferior leads)
How do patients present?
o Secundum
o Asymptomtic
o Symptomatic
Fatigue, dyspnea
Right heart failure
AF
Recurrent pulmonary infections
Paradoxical emboli
o Primum
o In addition to the above
Failure to thrive, poor development
IE
Syncope (heart block)
What are the complications of ASD?
o Pulmonary hypertension, heart failure, Eisenmengers
o AF, IE (primum defects)
o Recurrent chest infection, paradoxical emboli
What are the various types of murmurs that can be associated with ASD and what do they mean?
o Pulmonary ejection systolic murmur and mid-diastolic murmur at the triscuspid area implies increased flow of blood
through the pulmonary and triscupid valve respectively due to left to right shunting of blood via the ASD
o MS murmur means acquired Rh heart disease affecting the mitral valve in Lutembachers syndrome
o MR, TR or VSD murmur implies that ASD is of the ostium primum type
What is the mechanism of a split second heart sound?
o A split S2 is caused physiologically during inspiration because the increase in venous return overloads the right ventricle
and delays the closure of the pulmonary valve
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Why is there wide and fixed splitting of the second heart sound in ASD?
o With an atrial septal defect, the right ventricle can be thought of as continuously overloaded because of the left to right
shunt, producing a widely split S2, with the pulmonary valve closing much later cf to the aortic valve
o It is fixed because the atria are linked via the defect, inspiration produces no net pressure change between them, and has
no effect on the splitting of S2
How do you differentiate between a flow mumur through the pulmonary valve vs a PS murmur?
o PS murmur is a/w P2 that is soft, delayed and varies with respiration
What are the conditions that can cause a wide splitting of the second heart sound?
o Increase RV volume ASD, VSD, PR
o Increase RV pressure PS
o RV conduction delay RBBB
o Increase LV emptying MR, VSD
What is Eisenmengers syndrome?
o It implies a reversal of a left to right shunt as a result of the development of pulmonary hypertension
o This occurs in conditions such as ASD, VSD or PDA
o Patients are markedly clubbed and deeply cyanosed
o The defect must not be repaired once this complication occur due to high mortality risk
What is Lutembachers syndrome?
o Acquired Rh MS
o ASD
What is Fallots trilogy?
o ASD
o RVH
o PS
What is Holt-Oram syndrome?
o ASD secundum type
o Hypoplastic thumb with accessory phalanx
o Autosomal dominant
How would you investigate?
o ECG
o Secundum Partial RBBB, RAD
o Primum LBBB, LAD, low atrial rhythm
o Sinus venosus inverted P in inferior leads
o Pulmonary hypertension p pulmonale, RVH
o CXR
o Cardiomegaly
o Pulmonary hypertension
Prominent pulmonary trunk
Enlarged RA and RV
o Shunt vascularity/pulmonary plethora (well visualised pulmonary arteries in the periphery of the lung
o Small aortic knob
o Echocardiogram
o Diagnosis - demonstrate the defect
o Cardiac catheterisation
o Determine the severity and direction of shunt
How would you manage?
o Counsel
o Medical
o No antibiotic prophylaxis required, repaired or unrepaired
o Treatment of complications such as heart failure and AF
o May consider anticoagulation if there is evidence of bidirectional shunting to prevent strokes from paradoxical
emboli
o Surgery
o Early childhood closure is recommended at 5-10 years of age to prevent complications
o Small ASDs can be left alone(5 mm or less)
o Large ASDs or pulmonary to systemic flow ratio>1.5
o Closed surgically or transcatheter button or clam-shell devices
o Closure prevents pulmonary hypertension and RHF but does not alter incidence of AF
How would you counsel a patient with ASD who intends to get pregnant?
o Pregnancy is well tolerated in patients with small and hemodynamically insignificant ASD
o For large defects with pulmonary hypertension, Eisenmengers syndrome, avoid pregnancy as there is increase morbidity
and mortality both to fetus and mother
o Routine closure before pregnancy as complications of progressive pulmonary vascular disease may develop
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11. HOCM
Presentation
Sir, this patient has got Hypertrophic obstructive cardiomyopathy.
There is presence of a ESM heard best at the LLSE. It is a grade 3/6 murmur as it is not associated with any systolic thrill. In
addition, there is presence of a MR mumur with a PSM heard bst at the ap3ex beat and radiates to the axilaa. It is a grade 4/6/
murm,ru as it is associated with a systolic thrill. The first heart sound is soft and there is no associated third or fourth heart sounds.
th
The apex beat is not displaced located at the 5 IC space just medial to the midclavicular line. It has a double apical impulse (say
this only if not if AF).
There are no complications of congestive cardiac failure. However the JVP is raised at 3 cm with a prominent a wave.
Examination of the peripheries did not show any stigmata of infective endocarditis. He is is SR at a pulse rate of 84 bpm and has a
characteristic bifid pulse (only if not in AF; if in AF, say shrap, rising and jerky pulse)
I did not notice any clinical features to suggest Friederichs ataxia.
I would like to complete my examination by taking performing the valsalva manoeuvre or standing to accentuate the murmurs as
well as take the patients blood pressure and look for fever from the temperature chart. A neurological examination would be useful
to screen for any signs of stroke.
In summary, this patient has got a HOCM with an ESM and MR murmur associated with a double apical impulse, bifid pulse and a
raised JVP with prominent awave. There are no complications of heart failure, AF or IE. This is a genetic condition.
Questions
What is HOCM?
o Hypertrophic Cardiomyopathy
o Genetic cardiac disorder caused by missense mutation in the genes that encode proteins of the cardiac sarcomere;
autosomal dominant
o Resulting in hypertrophy of the ventricular septum with LV outflow tract obstruction
o 1 in 500, male:female 1:1
o Variable penetrance
o Variable expression
o Asymptomatic (majority)
o Symptomatic
o Angina, syncope, dyspnea, palpitations
o Sudden death (Ventricular fibrillation) (overall annual mortality in 1%)
o Complications of CCF, AF, IE and thromboembolic stroke
Why is there a double apical impulse?
o Presence of a LV heave with a prominent presystolic pulse caused by atrial contraction
o A differential diagnosis is LV aneurysm
Why is there a prominent a wave?
o Due to forceful atrial contraction against a non-compliant right ventricle
What is Brockenbrough-Braunwauld-Morrow sign?
o Reduced pulse pressure in the post-extrasystolic beat
o Occurs in HOCM and AS
What are the causes of HOCM?
o Familial
o Friederichs Ataxia
o Idiopathic
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23
o
o
o
o
o
o
o
o
o
o
Questions
How do you differentiate ToF vs Eisenmengers syndrome?
o ToF has PS murmur with systolic thrill and a soft P2
o ToF no pulmonary hypertension (CXR ToF has small pulmonary aretrial trunks)
What are the characteristic findings of a PDA?
o Collapsing pulse
o Continuos murmur heard best just below the left clavicle and radiates to the back
What are the differential diagnoses for a continuous murmur?
o Collapsing pulse
o PDA
o MR with AR
o VSD with AR
o No collapsing pulse
o BT shunt
o Venous hum (right of the sternum, children, disappears when lie flat or right JVP occluded)
What is ToF?
o Congenital heart condition comprising of
o VSD, RVH, Overriding aorta, PS
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13. Dextrocardia
Examination
After the routine examination
Request to examine the abdomen for a liver on the left side of the abdomen for situs inversus
Presentation
Sir this patient has dextrocardia as evidenced by:
o Right apex beat
o Heart sounds that are better heard on the right than on the left
The heart sounds are normal and there are no murmurs detected.
th
Apex is not displaced located at the right 5 IC just medial to the midclavicular line and has a normal characteristic.
She is in SR with a rate of 84bpm
On examination of his lungs posteriorly, there was no evidence of coarse late inspiratory crepitations to suggest bronchiectasis and
patient does not have a nasal voice to suggest sinusitis. (Katargeners syndrome)
There is no evidence of Turners syndrome. (mention this only if female!)
I would like to complete my examination examining the abdomen for a left sided liver for situs inversus.
In summary this patient has got dextrocardia and is well clinically and is of congenital etiology.
Questions
What is the significance of situs inversus in patients with dextrocardia?
o It usually implies that there is no significant cardiac malformation
What conditions is dextrocardia associated with?
o Kartageners syndrome a type of immotile ciliary syndrome
o Triad of
Bronchiectasis
Sinusitis, otitis media and dysplasia of the frontal sinuses
Infertility
o Turners syndrome
o Asplenia PBF may show Heinz bodies and Howell-Juoly bodies
What is situs inversus?
o Right sided apex and right descending aorta
o Left lung having 3 lobes and right lung with 2 lobes
o Left sided liver and right sided stomach
o Right descending colon
What is dextroversion?
o Right sided apex and left sided descending aorta
o Left sided stomach
What is levoversion?
o Left sided apex and right sided descending aorta
o Right sided stomach
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RESPI!
14. Bronchiectasis
Presentation
Sir, this patient has got bronchiectasis affecting both lower lobes as evidenced by late, coarse inspiratory crepitations heard best
posteriorly in the lower one third bilaterally. Patient has a productive cough with large volume of purulent sputum with hemoptysis
associated with clubbing.
Chest excursion was reduced bilaterally with a normal percussion note and vocal resonance. Trachea is central and the apex beat
is not displaced.
There are no signs to suggest presence of COPD.
(There is concomitant COPD with a reduced chest excursion bilaterally, hyperinflation of the chest associated with hyperresonance
on percussion with loss of liver and cardiac dullness. There is presence of ronchi and a prolonged expiratory phase. Vocal
resonance is normal. Trachea is central and apex beat is not displaced.)
There is complication of pulmonary hypertension with a loud and palpable component of the second heart sound associated with a
left parasternal heave. There is also cor pulmonale with a raised JVP of 3 cm with prominent a wave associated with bilateral pedal
oedema. Clinically there are no signs of polycythemia such as plethoric facies or conjunctival suffusion.
He is not in respiratory distress (with a RR of 14 bpm without use of accessory muscles of respiration). There are no signs of
respiratory failure (he does not require any supplemental oxygen and there is no central cyanosis; there is also no flapping trem or
of the hands and no bounding pulse). There is also no nicotine staining of the fingers, patient is not cachexic looking and no
enlarged Cx LNs.
With regards to aetiology, there is no dextrocardia or a nasal voice to suggest possible Kartageners syndrome. In addition, there is
no symmetrical deforming polyarthropathy to suggest RA or any cutaneous signs of SLE. There is no kyphoscoliosis.
With regards to treatment, patient has a steroid metered-dose inhaler, salbutamol and ipratropium metered-dose inhalers by the
bed side.
I would like to complete the examination by looking at the temperature chart for fever as well as an abdominal examination to look
for splenomegaly from amyloidosis which can result from bronchiectasis. A neurological examination is useful to screen for deficit
as patients are prone to brain abscesses.
In summary, this patient has bronchiectasis affecting both lower lobes with complications of pulmonary hypertension and cor
pulmonale. There is no concomitant COPD and no polycythemia. He is clinically not in respiratory failure. The possible causes for
this patients bronchiectasis are post infective causes such as post viral, bacterial, TB or ABPA, connective tissue disease such as
RA or SLE, congenital conditions such as cystic fibrosis, Kartageners syndrome or hypogammaglobulinemia.
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Questions
What are your differential diagnoses for a patient that is clubbed and has crepitations?
o
Bronchiectasis
o
Pulmonary fibrosis
o
Mitotic lung lesion
o
Abscess
What is bronchiectasis?
o
Definition: permanent dilatation of the bronchi
o
Pathology: Retained secretions and chronic inflammation
o
Clinical course: Chronic, progressive with recurrent infective exacerbations
o
Clinical: Symptoms - productive purulent cough, dyspnea and hemoptysis and Signs: coarse late inspiratory crepitations with a 3
layered purulent sputum
What are the causes of bronchiectasis?
o
Focal
o
Luminal blockage FB, broncholith
o
Arising from the wall mitotic lesion of the lung
o
Extrinsic enlarged LNs esp middle lobe from TB/fungi; displacement of airways post lobar resection
o
Diffuse
o
Post infectious conditions
Bacteria Pseudomonas, Hemophilus, Pertussis
TB
Aspergillus (for upper lobe or proximal bronchiectasis) as in allergic bronchopulmonary aspergillosis from type
III immune complex reactions.
Virus adenovirus, measles, influenza
o
Congenital conditions
Cystic fibrosis
Alpha 1 Antitrypsin deficiency
Kartageners syndrome of immotile ciliary syndrome
Hypogammaglobulinemia
o
NB: Immunodeficiency form secondary causes such as cancer, chemotherapy or immune
modulation post transplant
o
Rheumatic conditions
RA (1-3% of patients)
SLE
Sjogrens
o
Others
Yellow nail syndrome (yellow nails, bronchiectasis, pl effusion and lymphedema)
Youngs syndrome(secondary ciliary dyskinesia from mercury intoxication)
Inflammatory bowel disease (UC or Crohn)
Congenital kyphoscoliosis
Idiopathic (50%)
What is bronchiectasis sicca?
o
dry bronchiectasis
o
Presents with recurrent hemoptysis and dry cough
o
Affects the upper lobes therefore good drainage
o
Usually from past history of granulomatous infection eg TB
What is Kartageners syndrome?
o
It is a type of immotile ciliary syndrome
o
Comprising of
o
dextrocardia, situs inversus
o
bronchiectasis, sinusitis, frontal sinus dysplasia, otitis media
o
infertility
o
Resulting in poor ciliary function with retained secretions and recurrent infections and thus bronchiectasis
What is cystic fibrosis?
o
Most commonly due to mutations to CFTR (CF transmembrane conductance regulator) with F508
o
Recurrent respiratory infections with pancreatic exocrine deficiency and short stature
o
Upper lobe involvement
o
Staph aureus, Ps aeuroginosa
o
Elevated sweat Na and Cl concentrations
What are the differences in bronchiectasis vs COPD?
o
They may both occur concomitantly
COPD
Cause
Cigarette
Infection
Secondary
Organism
S. pneumoniae, Haem
Symptoms
Dyspnea, chronic cough
Sputum
Mucoid clear
CXR
Hyperlucency, hyperinflated
Bronchiectasis
Infection, genetic
Primary
Haem, Pseudomonas
Dyspnea, hemoptysis, productive
3 layered, purulent
Airway thickening, dilated
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16. COPD
Presentation
Sir, this patient has severe COPD that is complicated by pulmonary hypertension, cor pulmonale and polycythemia. He is
tachypneic at rest and requires use of intranasal oxygen supplementation.
Patient has got hyperinflated chest with reduced chest expansion bilaterally at 2cm. The percussion note is resonant with loss of
liver and cardiac dullness. There is prolonged expiratory phase with expiratory ronchi. Vocal resonance is normal. Trachea is
central and apex beat is not displaced.
There is complication of pulmonary hypertension as evidenced by loud and palpable P2 associated with a left parasternal heave.
There is also cor pulmonale with raised JVP of 4cm with giant V waves associated with bilateral pedal oedema. There are also
features of polycythemia with plethoric facies and conjunctival suffusion.
The patient is in respiratory distress. He is tachypneic at rest with a RR of 20 bpm and uses his accessory muscles of respiration at
rest. He is also in respiratory failure with presence of central cyanosis and is oxygen dependent. However, he does not have a
flapping tremor or a bounding pulse to suggest CO2 retention clinically.
In terms of aetiology, the presence of nicotine staining of his fingers implies significant history of smoking. He is not clubbed. The
Cx LNs are not enlarged and he is not cachexic looking.
There is presence of steroid MDI as well as bronchodilators by his side. There is no evidence of a hoarse voice or oral thrush or
other features of chronic systemic steroid usage.
I would like to complete the examination by testing patients forced expiratory time, checking his temperature and examining his
sputum.
In summary, this patient has got severe COPD with complications of pulmonary hypertension, cor pulmonale and polycythemia. He
is in respiratory failure and respiratory distress. The most likely aetiology is smoking.
Questions
How do you dx COPD?
Clinical (>35 years, smoking, wheeze, SOB, cough with sputum, winter bronchitis)
Airflow obstruction FEV1/FVC<70 and FEV1<80
o Mild 50-80%
o Mod 30-50%
o Severe - <30%
Exclude differential diagnoses
o Asthma (>400mls to dilators or PO pred 30mg OM 2 weeks or variation in PEFR >20%)
o Cancer
o Bronchiectasis
o ILD
How do you grade the severity of dyspnea?
MRC scale
o 1 SOB on strenuous exercise
o 2 on hurrying or up hill
o 3 walks slower than contemporaries and stops for breaths
o 4 stops for breath after walking 100m
o 5 SOB on ADLs
How would you investigate admitted with an acute exacerbation?
FBC (anaemia, polycythemia), biochemical, theophylline levels, ABG
Blood C/S if febrile
CXR
Spirometry
ECG, 2D echo
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18. Collapse
Presentation
Sir, this patient has a right upper lobe collapse as evidenced by reduced chest excursion of the right hemithorax associated with
dullness on percussion and reduced vesicular breath sounds and reduced vocal resonance affecting the upper one third of the right
hemithorax. This is associated with tracheal deviation to the right. There was no displacement of the apex beat.
Patients respiratory rate is 14 bpm and is not in respiratory distress or failure.
With regards to aetiology:
There are signs to suggest underlying malignancy. Patient is cachexic looking and is clubbed. I did not detect any tenderness in the
wrists to suggest HPOA. There were no enlarged palpable Cx LNs. There is also no conjunctival pallor or jaundice noted. I did not
detect any associated pleural effusion or raised hemidiaphragm. There were no signs of SVCO, patients does not have a right
Horners syndrome and there is no wasting of the intrinsic muscles of the right hand (hoarseness of voice for left sided lesion).
In considering other etiologies:
There are also no ronchi on auscultation to suggest asthma or allergic bronchopulmonary aspergillosis.
There are no Mantoux testing detected on the upper limbs but endobronchial TB is a possible differential diagnosis.
I did not find any signs of treatment such as radiotherapy hyperpigmentation or side effects of chemotherapy such as alopecia,
phlebitic veins or oral ulcers.
I would like to complete my examination by looking at the patients temperature chart as well as examining his sputum.
In summary, this patient has a right upper lobe collapsed and is clinically comfortable. In view that patient has:
1.
2.
3.
A history of weight loss and is cachexic looking, the possible diagnoses include endobronchial mitotic lesion or an
endobronchial tuberculous infection.
Fever/cough/hemoptysis/Cx lymphadenopathy, the possible diagnoses includes an endobronchial tuberculous infection,
endobronchial mitotic lesion or a collapse consolidation from a pneumonia.
Complications of Right Horners syndrome, signs of SVCO, clubbed with HPOA, the most likely cause is an endobronchial
mitotic lesion affecting the right upper lobe.
Questions
What are the causes of a lung collapse?
Intraluminal Mucus plugging from asthma or ABPA, FB
Endobronchial tumor, TB
Extrinsic compression enlarged LNs for mitotic lesion (pri or sec), lymphomas or TB
What is Brocks syndrome?
Collapse of the right middle lobe from enlarged LNs
How would you investigate?
Simple investigations
o
CXR
o
ABG, FBC and biochemical profile
o
Sputum AFB smear and c/s and cytology
Diagnostic - Bronchoscopy and Bx
Staging CT thorax and abdomen with adrenal cuts, bone scan
Physiological staging: Lung function test
o
FEV1 >1.5
o
Transfer factor>50%
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19. Consolidation
Presentation
Sir, this patient has a right upper lobe consolidation as evidenced by reduced chest excursion of the right hemithorax associated
with a dull percussion note, bronchial breath sounds and crepitations and increased vocal resonance. These signs were best heard
in the upper one third anteriorly in the right hemithorax. The trachea is central and apex beat is not displaced.
There are no signs to suggest that the patient is in respiratory distress or in failure.
With regards to aetiology, an underlying malignancy is considered as there is associated complication of SVCO (hoarseness of
voice if left sided), with plethoric facies, ruddy complexion a/w oedema of the face and upper limbs associated with suffusion of the
eyes, fixed engorgement of the neck veins, dilatation of the superficial veins of the neck, and venous angiomata detected on the
undersurface of his tongue. There is no Horners syndrome, wasting of the intrinsic muscle of the hands and no soft heart sounds to
suggest pericardial effusion. There was also no associated pleural effusion or a raised right hemidiaphragm.
He is also clubbed with HPOA and has nicotine staining of his fingers. He is cachexic looking with enlarged palpable cervical LNs.
There is also thrombophiblitis of the forearms which may suggest Trosseaus sign.
(if there are no signs of cancer, proceed to mention TB/pneumonia ie mantoux testing, toxic looking, productive cough with purulent
sputum; DVT ie swelling and tender calves)
There is presence of radiation therapy marks on the right chest wall as well as side effects of chemotherapy such as alopecia and
oral ulcers.
In summary, patient has a right upper lobe consolidation complicated by SVCO. He is not in respiratory distress. The underlying
cause is most likely a mitotic lesion of the lung.
Questions
What are the causes of a consolidation?
Infection
o Pneumonia
o Abscess
o TB
o Aspergilloma, cryptococcoma, hydatid cyst
Neoplastic or mass
o Carcinoma
o Lymphoma
Pulmonary infarction
How would you investigate?
Simple
o CXR
o ABGs, blood tests FBC and biochemical profile, blood c/s
o Sputum
Directed tests
o Infection
o Cancer Bronchoscopy and Bx, CT staging, bone scan, physio staging
o Infarction
What are the causes of an unresolved pneumonia?
FB
Tumor
Abscess
Inappropriate antibiotics, resistant organism
Bronchopulmonary sequestration
o Rare, congenital
o Non-functioning lung tissue with anomalous arterial supply with no connection to the bronchopulmonary tree
What are the extrapulmonary manifestations of Mycoplasma?
CNS meningitis, encephalitis
CVS percarditis, myocarditis
Hepatitis, GN
DIC, AIHA
EM, SJS
Arthralgia, arthritis
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43
20. Lobectomy/Pneumonectomy
1. Sir, this patient has left lobectomy as evidenced by a left sided thoracotomy scar associated with asymmetrical deformity of the
chest. There is reduced chest excursion of the left and the percussion note is dull in the lower third of the left hemithorax with
decreased breath sounds and vocal resonance in this area. The tracheal is not deviated and the apex beat is not displaced.
2. Sir, this patient has a left pneumonectomy as evidenced by a left thoracotomy scar associated with asymmetrical deformity of the
chest. There is reduced chest wall excursion on the left with a dull percussion note and absent breath sounds and vocal resonance
over the entire left hemithorax. Trachea is deviated towards the left with the apex beat displaced in the same direction. This is
associated with hyperinflation of the right chest with hyper-resonant percussion note and loss of liver dullness.
He is comfortable at rest with a RR of 12 bpm with no evidence of respiratory failure or distress.
With regards to aetiology
1. I did not detect any coarse inspiratory crepitations to suggest bronchiectasis nor was there any ronchi or prolonged expiratory
phase to suggest COPD or ABPA.
2. Patient is not clubbed and there is nicotine staining of the fingers. There is no palpable enlarged cervical lymph nodes and he is
not cachexic looking to suggest mitotic lesion of tuberculosis.
I would like to look at the patients temperature chart as well as his sputum.
In summary, this patient has a left lobectomy/pneumonectomy and the possible causes include:
1. surgical resection for early stage mitotic lesion of the lung or a SPN of uncertain cause.
2. Resistant lung abscess
3. Mycetoma
4. Treatment modality for pulmonary tuberculosis in the past (1950s, pt should be late 60s)
5. lung volume reduction surgery in COPD (lobectomy)
6. Localised bronchiectasis or its complications
7. Trauma
Questions
What are the indications for a lobectomy/pnemonectomy? (7)
Causes of lobectomy and pneumonectomy
o Mitotic lesion or SPN of uncertain nature
o Abscess
o Bronchiectasis localised or complications
o Mycetoma, ABPA (remaining lungs may have ronchi)
o TB treatment
o LVRS for COPD
o Trauma
Lobectomy and splenectomy
o TB
o Sarcoidosis
What are the contraindications to a lobectomy/pneumonectomy in a lung cancer patient?
Resectability
o T4 (mediastinal structures), N3 (contralateral mediastinal or hilar or ipsilateral supraclavicular LNs or scalene) or M1
o Tumor within 2 cm of carina (potentially curable by radiotherapy)
o Bilateral endobronchial tumor (potentially curable by radiotherapy)
Physiologic staging
o Severe pulmonary hypertension
o CO2 retention
o FEV1< 1L
o Transfer factor <40%
o Concomitant disease that would shorten life expectancy
o Recent MI in the past 3 months
o Borderline function with cardiopulmonary exercise testing with a maximal oxygen consumption <15ml/kg/min
What are the indications for lung volume reduction surgery in COPD patients?
Emphysema
Predominantly upper lobes
No or mild pulmonary hypertension (PASP > 45 mmHg)
No concomitant disabling disease
FEV1>20%
DLCO >20%
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45
46
Questions
What are the indications for lung transplant?
Cardiopulmonary
o Primary pulmonary hypertension
o Eisenmengers (heart-lung transplant)
Chronic Lung Conditions
o Restrictive pulmonary disease - ILD
o Obstructive pulmonary disease COPD, AAT
o Suppurative Bronchiectasis (must be bilateral tplt), Cystic fibrosis
o Sarcoidosis
What are the contraindications for lung transplant?
Disease specific guidelines
Includes
o Age
o Comorbidities: Absence of concomitant disease that shortens life expectancy (HIV, Hep B)
o Contraindications to surgery/GA (recent MI)
o Smoking, alcoholic, poor social support
What are the complications?
Graft dysfunction (reperfusion edema in the first week)
Airway complications dehiscence, stenosis or bronchomalacia
Rejection
o Acute lymphocytic inflammation, adjust steroid and immune suppression
o Chronic alloimmune inflammatory and non-alloimmune fibroproliferative; bronchiolitis obliterans syndrome
Infection
o CMV ganciclovir
o Aspergillus
o Bacterial pneumonia (Ps aeuroginosa)
How would you manage?
Multidisciplinary, regular follow up, transplant coordinator
3 drug maintenance
o Calcineurin inhibitors (Cyclosporin or tacrolimus)
o Purine synthesis antagonist ( AZA or MMF)
o Steroid
CMV and PCP prophylaxis
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ABDO!
23. Chronic Liver Disease
Prensentation
Sir, this patient has decompensated chronic liver disease with portal hypertension, splenomegaly and ascites.
My findings include:
Presence of an enlarged spleen that is palpable 3cm from the left costal margin. It is non-tender, firm in consistency, smooth
surface, regular edge, notch border with no splenic rub. I am unable to get above this mass. The liver is not enlarged with a span of
12 cm in the right mid-clavicular line. The kidneys are not ballotable. There is presence of ascites with shifting dullness and this is
not associated with tenderness.
He is deeply jaundice and bruising noted on the ULs and LLs with presence of stigmata of CLD including leukonychia, clubbing,
palmar erythema, spider naevi and gynaecomastia with loss of axillary hair. There is also presence of bilateral edema.
Complications:
He is cooperative with the examination with no flapping tremor to suggest hepatic encephalopathy.
There are no enlarged Cx LNs and patient is not cachexic looking. There is also no conjunctival pallor noted.
Aetiology:
I did not find any parotidomegaly, dupytrens contracture, tattoos, surgical scars or thrombosed veins.
Treatment:
I did not notice any abdominal tap marks but patient has sinus bradycardia, indicating use of beta-blockers.
I would like to complete my examination by looking at the patients temperature chart for fever and a rectal examination for hard
impacted stools or malena.
In summary, this patient has decompensated chronic liver disease with portal hypertension, splenomegaly and ascites. There is
presence of bruising, leukonychia, jaundice with no evidence of hepatic encephalopathy.
A. The most likely etiology for this gentleman is
1. Chronic ethanol ingestion due to presence of parotidomegaly but no dupytrens contracture; presence of hepatomegaly
2. Chronic hepatitis B infection as patient has tattoos.
3. Chronic hepatitis C infection as I note an abdominal surgical scar with possibility of transfusion in the past
B. In the local context, the most likely underlying etiology is chronic ethanol ingestion, chronic hepatitis B and C.
C. The most likely aetiology is chronic ethanol ingestion as I notice that this patient has presence of parotidomegaly. In view that
there is also a hard irregular liver that is palpable, it raises the possibility of an underlying mitotic lesion of the liver.
D. The most likely aetiology is
1. Primary biliary cirrhosis as she is a middle-aged lady with evidence of CLD with pruritus, xanthelasma and generalised
pigmentation.
2. Hemochromatosis as he is a middle-aged gentleman with slate-grey appearance with presence of diabetic dermopathy. I would
like to complete the examination by examining the CVS for CMP, urine dipstick for glycosuria and for small testes secondary to
pituitary dysfunction.
3. Wilsons disease as the patient has a short stature associated with Kayser Fleisher rings of the eyes and tremor and chorea of
the affecting the left upper limb.
4. Haemolytic anaemia (Thalassemia major/intermedius, Hereditary spherocytosis) as the patient has a short stature associated
with hyperpigmentation and thalassemic facies with frontal bossing, flat nasal bridge and maxillary hyperplasia. I would like to
complete the examination by examining the CVS for CMP, urine dipstick for glycosuria and for small testes secondary to pituitary
dysfunction.
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Questions
What is cirrhosis of the liver?
Defined pathologically
Diffuse liver abnormality
Fibrosis and abnormal regenerating nodules
What are the causes of liver cirrhosis?
Chronic ethanol ingestion
Viral hepatitis B and C
In UK, the risk for hep C is blood transfusion before Sept 1991 or blood products before 1986
Cardiac failure
Others
Autoimmune chronic active hepatitis (female)
Primary biliary cirrhosis (female)
Primary sclerosing cholangitis
Haemochromatosis (male)
Hemolytic disease
Wilsons disease
Alpha 1 AT deficiency
Galactosemia
Type 4 glycogen storage disease
Budd-Chiari (in malignancy- PRV or intraabdominal, AI, OCPs, IBD and PNH)
Drugs MTX (Look for RA or Psoriasis; Bx before starting MTX and bx every 1.5g accumulated dose), amiodarone, isoniazid,
methyldopa (MAMI)
Cryptogenic
What are the complications of cirrhosis? (5)
Portal hypertension
Ascites Tense ascites, SBP
Splenomegaly thrombocytopenia
Varices
Hepatorenal syndrome
Dx
Cr Clr <40
Absence of other causes for renal impairment
Absence of Cr improvement, proteinuria (0.5g/d), hematuria (<50/hpf) and urinary Na <10
Type 1 = rapidly deterioration in renal fn ie doubling of serum Cr in < 2wks to >221 umol/l
Type 2 = stable or slowly progressive that does not mean criteria for type 1
Hepatic encephalopathy
Stages
1 depression, euphoria, sleep disturbance, slurred speech; may have asterixis, normal EEG
2 lethargy, moderate confusion; asterixis present; abnormal EEG
3 marked confusion, arousable; asterixis present; abnormal EEG
4 coma; abnormal EEG
Coagulopathy low platelets and reduced clotting factors
HCC
How do you stage cirrhosis of the liver?
Child-Pugh staging
o Consists of 5 parameters with score ranging from 5 to 15
o Prognosticate
o 5 parameters ( 2 clinical and 3 Ix)
o
Bilirubin (<34, 34-50, >50 umol/l)
o
INR (<1.7, 1.7-2.3, >2.3)
o
Albumin (>35, 28-35, <28)
o
Ascites (mild, moderate, severe)
o
Encephalopathy (absent, I and II, III and IV)
o A 5-6 pts (1 year 100%, 2 year 85%)
o B 7-9 (1 year 80%, 2 year 60%)
o C 10-15 (1 year 45%, 2 year 35%)
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When examining a patient with signs of chronic liver disease, think of:
Primary biliary cirrhosis
Clinical
Female middle age
CLD with pruritus, xanthelesma, generalised pigmentation, hepatosplenomegaly
Stages
Asymmptomtic with normal LFTs (positive Abs)
Asymptomatic with abnormal LFTs
Symptomatic lethary and pruritus
Decompensated
Commonly associated with sicca syndrome, arthralgia, Raynauds, Sclerodactyly and Thyroid disease
Ix
Raised ALP, Anti-Mitochondrial Ab M2 Ab, IgM
Lipids
Other tests for CLD
Histology Granulomatous cholangitis
Mx
Symptomatic
Urosdeoxycholic acid
Cholestyramine
Fat soluble vitamins
Immunosuppression Cyclosporin, steroids, AZA, MTX, tacrolimus, colchicines
Liver transplant
Hemochromatosis
Clinical
Male
Slate-grey appearance, hepatomegaly
Affects
Liver cirrhosis and cancer
Pancrease DM
Heart failure (CMP)
Pituitary dysfunction
Pseudogout
Therefore requests: Urine dipstick, CVS examination and testicular examination
Autosomal recessive, HLA-A3, Ch 6 HFE gene, increased Fe absorption with tissue deposition,
Ix
Raised ferrritin, transferrin saturation and liver Bx
Mx
Non-pharmological
Avoid alcohol
Avoid shellfish as they are susceptible to Vibrio vulnificus
Venesection
Dy/Dx of generalised pigmentation
Liver hemochromatosis in males and PBC in females
Addisons
Uremia
Chronic debilitating conditions eg malignancy
Chronic haemolytic anaemia
Wilsons disease
Clinical
Short stature
Eyes
KF rings - greenish yellow to golden brown pigmentation of the limbus of the cornea due to deposition of Cu in Descemets
membrane at 12 and 6 oclock position. Also occurs in PBC and cryptogenic cirrhosis
Sunflower cataract
Extrapyrimidal
Tremor and chorea
Presents as difficulty writing and speaking in school
Pseudogout
Penicillamine complications
Myasthenic ptosis
Lupus malar rash, small hand arthritis
Urinalysis for glycosuria from proximal RTA
Autosomal recessive, Ch 13, increased Cu absorption and tissue deposition
Ix
Low serum ceruloplasmin, increased 24H urinary Cu
Liver Bx increased Cu deposition
Mx
Penicillamine
Ulcerative Colitis
Clinical
o
Skin erythema nodosum, pyoderma gangrenosum
o
Joint arthropathy LL arthritis, AS, sacroilitis
o
Aphthous ulcers
o
Ocular iritis, uveitis and episcleritis
o
CLD Cirrhosis, chronic active hepatitis, fatty liver PSC, Cholangiocarcinoma, metastatic colorectal cancer, amyloid
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24. Hepatomegaly
Presentation
Sir, this patient has an enlarged liver without any signs of liver cirrhosis. (The mass in the RUQ is a liver mass as I am unable to get
above the mass and am able to trace the edge of the liver past the midline of the abdomen.) It is massively/moderately enlarged
with a
Size cm from the right costal margin with a span of cm
Edge regular or irregular
Surface smooth or nodular
Consistency soft, firm, hard
Tender
Pulsatile
Bruit
The spleen is not palpable or percussible. The kidneys are not enlarged. There is no associated ascites.
Examination of the peripheries:
Jaundice, bruises, stigmata of CLD and edema of LL
Hepatic flap
Causes
o Cachexia, Cx LNs, conjunctival pallor
o Dupytrens contracture, parotidomegaly
o Toxic looking, rashes or injected throat or enlarged tonsils
o CCF presence of raised JVP
I would like to complete the examination by checking patients temperature chart for fever (if infective cause is a differential) and a
rectal examination for masses (if secondaries are a differential).
In summary, this patient has an enlarged liver that is (state the important Cs). Hence my differential diagnosis includes:
Massive
HCC/Secondaries/myeloprolif
RVF
Alcoholic liver disease
Mild-moderate
As above plus
Infection
Viruses EBV, CMV, hepatitis A & B
Bacteria Weils disease (leptospirosis), meliodosis, abscesses, TB, brucellosis, syphilitic gumma
Protozoal hydatid cysts, amoebic abscess
Malignancy lymphoproliferative, myeloproliferative, primary, secondary, adenoma from OCP
Infiltrative sarcoid (erythema nodosum, lupus pernio), amyloid, fatty liver
Endocrine acromegaly, hyperthyroid
Collagen Vascular disease
Chronic hemolytic anaemia( AI, thalassemia, HS)
Reidels lobe
Possibility of minimal CLD signs with just hepatomegaly
PBC
Hemochromatosis
Tender
Liver abscess/infective (viral/bacterial/parasitic)
HCC/Secondaries
Right Heart Failure/Budd chiari
Pulsatile
TR
HCC
AVM
Hard/Irregular
Mitotic (primary/Secondary)
Macronodular cirrhosis ie >3mm (post hepatitis B, C, Wilsons and AAT) (Micronodular cirrhosis implies alcoholic liver cirrhosis)
Amyloidosis/Hydatid cyst/granulomatous disease/gummatous disease/APCKD
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Questions
What are the causes?
See above
How would you investigate?
According to the most likely etiologies
Think of
o Blood Ix Dx and PX
o Imaging
o Liver Bx
How would you manage?
According to the most likely etiologies
(Dont forget that 40% of CLD has no peripheral stigmata of CLD therefore think of Alcoholic liver cirrhosis, PBC and
Hemochromatosis in the right setting)
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25. Splenomegaly
Presentation
Sir, this patient has a moderately enlarged spleen without evidence of liver cirrhosis. There is associated with
tenderness/pallor/lymphadenopathy.
The spleen is moderately enlarged at 4 cm from the left costal margin. There is a palpable notch with a regular edge and smooth
surface, firm consistency and is non tender. I did not detect a splenic rub. This is not associated with hepatomegaly or ascites. The
kidneys are also not ballotable.
Peripheral examination showed that there is no evidence of any stigmata of CLD and patient is not jaundiced with no bruises or
petechiae.
Aetiology:
1. Patient is not cachexic looking with no conjunctival pallor or enlarged Cx LNs. There is also no evidence of polycythemia such as
plethoric facies or conjunctival suffusion or bone marrow biopsy scar.
2. Patient is not toxic looking and no rashes or enlarged tonsils are noted.
3. There are no splinter haemorrhages or stigmata of IE.
4. There are no features of SLE or RA or chronic haemolytic anaemia.
I would like to complete the examination by looking at the patients temperature chart and take a history of night sweats, LOW and
travel history
My differential diagnoses for this young patient with moderately enlarged spleen with anaemia are
Massive Splenomegaly (>8 cm)
CML
Myelofibrosis
PRV
Chronic malaria
Kala-azar (visceral leshmaniasis)
Others(Gauchers, rapidly progressive lymphoma)
Moderately Enlarged (4 to 8 cm/ 2-4 FB)
Myeloproliferative
Lymphoproliferative
Haematological AI, ITP, Thalassemia and HS
Chronic malaria
Cirrhosis
Mildly Enlarged(4cm</1-2FB)
Myeloproliferative, Lymphoproliferative
Infections
Viral CMV,EBV
SBE, splenic abscesses, leptospirosis, Meliodosis, TB, Typhoid, Brucellosis(farmer)
Acute malaria
Infiltrative Amyloidosis, Sarcoidosis
Endocrine Acromegaly, thyrotoxicosis
Collagen vascular SLE, Feltys
Chronic haemolytic Thalassemia, AI, HS, ITP
Tender
Infective causes
Acute myeloproliferative and lymphoproliferative
Pallor
Myeloproliferative
Lymphoproliferative
Malaria
Hemolytic anaemia(Thalassemia and AIHA)
AI Feltys, SLE
Cirrhosis of the liver with portal hypertension
Lymph Nodes
Lymphoproliferative(CLL/lymphoma)
Infective(IMS, Meliodosis, CMV, TB, HIV)
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Questions
What are the causes?
See above
What are the features of an enlarged spleen in contrast to an enlarged left kidney?
Palpation
o Unable to get above it
o Notch border
o Not bimanually palpable or ballotable
th
Percussion note over the mass is dull from the left 9 rib in the mid-axillary line extending inferior-medially in the axis of the
th
10 rib
Inspection shows that the mass moves inferior-medially with inspiration rather than inferiorly
Auscultation may reveal a splenic rub
Is a normal spleen palpable or percussible?
A palpable spleen implies that is at least twice enlarged
th
th
th
A normal spleen can be percussed along the 9 , 10 and 11 rib but is not percussible beyond the anterior axillary line
How would you Ix?
How would you manage?
Notes on conditions (See History Section)
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26. Hepatosplenomegaly
Presentation
Sir this patient has hepatosplenomegaly without evidence of cirrhosis of the liver.
(I say this because enlarged masses in the right and left hypochondrial regions of which I am unable to get above theses mass es
and is not bimanually palpable or ballotable. Hence, these are unlikely to be due to kidney masses.)
The liver is enlarged
Size, edge, surface, consistency, tender, bruit or pulsatile
The spleen is enlarged
Size, edge, surface, consistency, tender
Kidneys are not enlarged and no associated ascites
Peripheral examination
CLD stigmata, jaundice, bruises
Hepatic encephalopathy
Causes
o Pallor, cachexia, Cx LNs, PRV
o Toxic, rashes, tonsils
o Chronic ethanol ingestion
o CCF
o SBE, SLE, RA, Hemolytic anaemia
I would like to complete the examination
In summary, this patient has hepatosplenomegaly that is associated with. The differential diagnoses are:
(Determine which is the predominantly enlarged organ eg massive liver with small spleen or massively spleen with small liver;
determine if there is any Cs liver findings such as pulsatile liver; if both are mildy enlarged then combine the causes)
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hypertension
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Lymph Nodes
Lymphoproliferative(CLL/lymphoma)
Infective(IMS, Meliodosis, CMV, TB, HIV)
Massive Liver
HCC/Secondaries/myeloprolif
RVF
Alcoholic liver disease
Mild-moderate Liver
As above plus
Infection
Viruses EBV, CMV, hepatitis A & B
Bacteria Weils disease (leptospirosis), meliodosis, abscesses, TB, brucellosis, syphilitic gumma
Protozoal hydatid cysts, amoebic abscess
Malignancy lymphoproliferative, myeloproliferative, primary, secondary, adenoma from OCP
Infiltrative sarcoid (erythema nodosum, lupus pernio), amyloid, fatty liver
Endocrine acromegaly, hyperthyroid
Collagen Vascular disease
Chronic hemolytic anaemia( AI, thalassemia, HS)
Reidels lobe
Possibility of minimal CLD signs with just hepatomegaly
PBC
Hemochromatosis
Tender Liver
Liver abscess/infective (viral/bacterial/parasitic)
HCC/Secondaries
Right Heart Failure/Budd chiari
Pulsatile Liver: TR, HCC, AVM
Hard/Irregular Liver
Mitotic (primary/Secondary)
Macronodular cirrhosis (post hepatitis B/C, Wilsons and AAT)
Amyloidosis/Hydatid cyst/granulomatous disease/gummatous disease/APCKD
Questions
What are the causes? How would you investigate? How would you manage?
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27. Ascites
(Think of CLD, Budd-Chiari, renal failure or heart failure, hypothyroidism, also malignancy, TB)
Presentation
Sir, this patient has gross ascites.
There is presence of abdominal distension with an everted umbilicus. There is a positive fluid thrill as well as shifting dullness. This
is not associated with any abdominal tenderness and patient is able to lie flat for the examination. There is also abdominal scar
marks suggesting abdominal tap has been done.
I am unable to palpate the liver and it has a span of 12 cm in the right mid-clavicular line. The spleen is not palpable or percussible.
The kidneys are not ballotable. There are no other masses palpable in the abdomen.
There are no stigmata of chronic liver disease such as leukochynia, clubbing, palmar erythema, spider naevi, gynaecomastia or
loss of axillary hair. There is also no hepatic fetor or a hepatic flap. Patient is not jaundice and there is no conjunctival pallor.
There is associated pedal edema up to the knee level with sacral edema but no periorbital edema. There are no signs of renal
failure such as a sallow appearance or uremic fetor.
Patient also does not have any features to suggest hypothyroidism such as a cream and peaches complexion, macroglossia,
hoarseness of voice or bradycardia.
He is not cachexic looking and there are no palpable cervical LNs. He is not toxic looking.
I would like to complete my examination by
CVS looking at the JVP with the patient seated 45 degrees to look for raised JVP with steep x and y descent, early S3
suggestive of constrictive pericarditis
Urine dipstick for proteinuria
Temperature chart for fever (TB)
Rectal examination for a rectal mass
In summary, this patient has got gross ascites that is not associated with any intra-abdominal organomegaly or masses of which no
apparent cause is found clinically. The possible differential diagnoses include cirrhosis of the liver, Budd-chiari syndrome, nephrotic
syndrome or protein-losing enteropathy, congestive cardiac failure or intra-abdominal malignancy or TB.
Questions
What are the causes of abdominal distention?
Fat, fluid, flatus, faeces, fetus and organ enlargement
What is ascites?
Pathologically accumulation of fluid in the peritoneal cavity
How much fluid must be present before there is flank dullness?
1.5 L of ascitic fluid
How would you approach a patient with ascites clinically?
Abdominal examination
o Liver
Look for jaundice, spleen and stigmata of CLD cirrhosis of liver
Liver palpable and smooth think of Budd-chiari
Liver palpable and hard and nodular think of malignancy
o Kidneys
Look for evidence of kidney failure and anasarca
o Look for congestive cardiac failure or constrictive pericarditis
o Look for features of hypothyroidism
o If all above absent, think of
TB peritonitis
Intra-abdominal malignancy
Carcinomatosis peritonei
Secondaries
o Liver
o Colon
o Ovaries
o Pancreas
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NEURO!
31. Approach to Examination of the Face
(I) Assessment of Higher Cortical Function
(II) Approach to the examination of the Eyes
(III) Cranial Nerves
Isolated CN abnormalities
Multiple CN abnormalities
Conforming
Cavernous sinus syndrome
Superior Orbital syndrome
Cerebellar Pontine Angle
Syringobulbia
Lateral Medullary syndrome
Medial Medullary syndrome
Bulbar Palsy
Pseudobulbar Palsy
Jugular Foramen syndrome
Non-conforming
Brainstem Stroke
Multiple sclerosis
Base of skull metastasis/leptomeningeal metastasis/NPC
Basal meningitis
Pagets disease
Myasthenia Gravis
Miller Fisher Syndrome
Guillain Barre Syndrome
Mononeuritis multiple
Migraines (Paralytic)
(IV) Speech
Dysarthria
Cerebellar Speech
Bulbar Palsy
Pseudobulbar Palsy
Slurred Speech (VII )
Parkinsons Syndrome
Dysphasia
Expressive
Receptive
Nominal
Conductive
Global
Dysphonia
Recurrent Laryngeal Nerve Abnormality
VC abnormalities
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Syringobulbia
o See syringomyelia
o Extension of syrinx to involve the brainstem
o V(descending tract of V), VII, IX, X, XI, XII and Horners syndrome
o Usually unilateral
Jugular foramen syndrome
o Involvement of the IX, X, XI (XII maybe affected due to proximity)
o Unilateral
o Examination
CN exams
Proceed to check for enlarged Cx LNs
And request to assess speech for husky voice and bovine cough
o Presentation
Sir, this patient has right/left JFS as evidenced by
Notice that this patient is on NG
No enlarged Cx LNs
Possible etiologies includes
o Questions
Causes
Ca of the pharynx (commonest cause), tumor, neurofibroma
Basal meningitis
Pagets disease, trauma
Thrombosis of the jugular vein
IX, X and XI leaves the skull via jugular foramen (between the lateral part of occiput and the petrous part of
the temporal bone)
XII leaves via the anterior condylar foramen
Isolated XI implies injury to XI in the neck eg stab wounds
Non-Conforming
Myasthenia Gravis (see Myasthenia Gravis)
Miller Fisher Syndrome
o Variant of Guillain Barre syndrome
o Characterise by triad of ophthalmoplegia, ataxia and areflexia
o Cs by anti G1Qb antibodies
o Rare
o Good prognosis with recovery beginning within 1 month of onset and complete recovery within 6 months
o Some maybe left with residual weakness and 3% will have relapses
Guillain-Barre syndrome
Mononeuritis multiplex
Migraine (paralytic)
Pagets
Base of skull (trauma)
Basal meningitis
Brainstem strokes or multiple sclerosis
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Axons run ipsilateral except those to the (1)superior rectus which is innervated from the contralateral 3 nucleus and (2) the levator
palpebrae which has innervations from both nuclei.
rd
Hence, right sided 3 nerve palsy can have contralateral ptosis which is often milder than the ipsilateral ptosis; also the ipsilateral
superior rectus can still be affected due to involvement of the contralateral fascicular intraparenchymal midbrain portion of the left
rd
3 nerve.
For pupillary reflex and accommodation, it is served by the Edinger-Westphal nucleus and all axons are ipsilateral.
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rd
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Questions
What is the course of the facial nerve?
VII nerve nucleus lies in the pons in close proximity with VI nerve nuclei
VII leave the pons with VIII via the cerebellopontine angle
It enters the facial canal and enlarges to become the geniculate ganglion
A branch is given off to the stapedius muscle and the greater superficial petrosal branch goes to the lacrimal glands
The chorda tympani which supplies taste sensation to the anterior two thirds of the tongue joins the VII nerve in the facial canal
VII nerve exits the skull via the stylomastoid foramen, through the parotids with the following branches
Temporalis
Zygomatic
Buccal
Mandibular
Cervical
What are the causes of a unilateral LMN VII nerve palsy?
Brainstem (Infarct/haemorrhage, MS, abscess and tumour, syringobulbia)
Base of skull lesions (infective, tumour, infiltrative)
CPA lesions (acoustic neuroma, meningioma, neurofibroma)
Petrous temporal bone (Bells palsy, Ramsay Hunt, OM)
Parotid (tumour, sarcoidosis, surgery)
Mononeuritis multiplex
NB: Most common is Bells palsy
What are the causes of bilateral LMN VII nerve palsies?
After ruling out MG and myopathies
Bilateral CPA tumor as in NF type 2
Bilateral Bells palsy
Bilateral Parotid enlargement (Sarcoidosis Uvoeoparotid fever or Heerfordts fever)
GBS, MND and leprosy, Lyme disease
Rare: Rosenthal Melkersson syndrome (triad of VII palsy with facial edema and plication of the tongue, Mobius syndrome
(congenital facial diplegia, oculoparalysis from III and VI and infantile nuclear hypoplasia)
What is Bells phenemenon?
It refers to the upward movement of the right eyeball with incomplete closure of the right eyelid in an attempt to close the right eye.
Why are the muscles of the upper face spared in a upper motor neurone lesion?
The upper facial muscles are preserved in an UMN lesion as there are bilateral cortical representations of these muscles.
What is Bells palsy?
An idiopathic facial paralysis, believed to be due to viral-mediated cranial neuritis from HSV
Typically presents with abrupt onset of weakness with worsening the following day, associated with facial or retroauricular pain,
hyperacusis and excessive tearing
What is Ramsay Hunt syndrome?
Herpes zoster infection of the geniculate ganglion
Presents with vertigo, hearing loss, facial weakness, pain in the ear with vesicles seen on the external auditory meatus and
palate
What is facial synkinesis?
Attempt to move one group of facial muscles results in movement of another group
Occurs as a result of anomalous regeneration of the facial nerve
Egs if nerve fibres which innervate the facial muscles later innervate the lacrmial glands, then patient shed tears on mastication
(crocodile tears)
How would you investigate?
Targeted Ix according to history and physical examination
Blood Ix eg Lymes disease
Imaging
How would you manage (Bells palsy)?
Educate
Lubricating eye drops, eye patch, physiotherapy
PO Pred 1mg/kg/d for 7-10 days and PO acyclovir 400mg 5X/d for 7 days (within first 72hrs)
Regular follow up to look for resolution and exclude new developing signs suggestive of other conditions
Surgical (tarsorraphy) for chronic non-resolving cases
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Questions
What is Myasthenia Gravis?
Autoimmune condition with antibodies targeting the post-synaptic Ach receptors of the neuromuscular junction
Resulting in progressive muscle weakness with use of the muscle and recovery of strength after a period of rest
Weakness experienced once number of receptors is 30% or less
How common is the thymus involved?
75% of cases of which 15% are thymomas and 85% are thymic hyperplasia
What are the common presentations?
Age
2 peaks
20 to 30 years old with female predominance
>50 years old with male predominance
Ptosis, diplopia
Dysarthria, difficulty swallowing (isolated bulbar muscles involvement occurs in 20%)
Generalised weakness or reduced exercise tolerance
Respiratory failure in 1%
Tends to occur extraocular muscles first, then to facial to bulbar and to limbs and truncal
What can exacerbate MG or precipitate crisis?
Non compliance to medications
Infection
Emotions
Drugs
Antibiotics: aminoglycosides, tetracyclines, macrolides and fluoroquinolones
CVS : Beta blockers, Calcium channel blockers (verapamil)
Others : Chloroquine, quinidine, procainamide, Li, Mg, Prednisolone, quinine(in gin tonic drinks), penicillamine
What is cholinergic crisis?
Can cause confusion between myasthenic crisis from cholinergic crisis
Results from excess of cholinesterase inhibitors such as neostigmine and physostigmine
Causes flaccid paralysis and SLUDGE (Miosis, salivation, lacrimation, urinary incontinence, diarrhea, gastrointestinal
hypermotility and emesis)
How would you investigate?
Blood Ix
AchR Ab
Positive in 80% with generalised MG
Positive in only 50% with ocular involvement only
also present in 90% of patients with penicillamine induced MG
Antistriated musce Ab
Anti Muscle specific kinase Ab (Anti MuSK Ab positive in patients with AchR Ab ve)
FBC to rule out infection
Imaging
CXR thymus (anterior mediastinal mass), aspiration pneumonia
CT for thymus
Tensilon test
Dx and distinguishing from cholinergic crisis
Edrophonium (T1/2 10 mins)
Look for objective improvement in ptosis (require observer)
Cardiac monitoring for bradycardia and asystole (Rx with atropine)
1 mg test dose and up to 10 mg
In cholinergic crisis, will get increased salivation etc
Note that in ALS, improvement in muscle weakness also occurs
Ice Pack test
Ice applied with glove to eyelids for 2 mins
Improvement in ptosis is dx (positive in 80%)
Electrodiagnostic studies
th
th
Repetitive nerve stimulation test shows a decrease in the compound muscle action potential by 10% in the 4 or 5
response to a train of nerve stimuli
Single fibre nerve electromyography evidence of neuromuscular blockade with increased jitter
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2.
3.
4.
Ptosis
5.
Gaze Abnormalities
Supranuclear gaze palsies PSP, Parinauds
Gaze palsies INO and One and half eye
Nerve Palsies (III and IV)
Wernickes
6.
7.
Visual Acuity
8.
Visual Fields
9.
Fundoscopy
Papilloedema
Optic atrophy
Retinitis pigmentosa
DM
Hypertensive
Chorioretinitis
CRVO
CRAO
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Questions
What are the features of Horners syndrome?
Partial ptosis paralysis of the upper tarsal muscle (Mullers muscle)
Miosis paralysis of pupil dilator
Enophthalmos paralysis of muscle of Muller
Slight elevation of the lower eyelid paralysis of the lower tarsal muscle
Loss of sweating
How do you delineate the site of lesion clinically?
Loss of sweating
St
o Central lesion loss in the head, upper trunk and arm (1 order)
o Neck
nd
Proximal to the superior cervical ganglion loss in face (2 order)
rd
Distal to superior crvical ganglion no loss (3 Order)
Adrenaline 1:1000 in both eyes (denervation hypersensitivity)
o Above the superior cervical ganglion (peripheral) = dilates the affected eye
o Below/Proximal to superior Cx ganglion or normal eye = no effect
Cocaine 4%
o Dilates normal eyes
o No effect on the affected side if above/distal to superior cervical ganglion
What are the causes of Horners syndrome?
Hypothalamus or brainstem
o Stroke
o Pontine glioma
o Coning of temporal lobe
Cervical cord (C8-T2 : intermediolateral column)
o Syringomyelia
o Multiple sclerosis
o Tumor
nd
Superior Mediastinum (2 order nerves exits the spinal cord and synapses at the superior cervical ganglion)
o Pancoast lesion (SCC of lung)
o Trauma to brachial plexus
Neck (carotid sympathetic plexus and superior cervical ganglion)
o Neoplasia
o Trauma
o Surgery (cervical sympathectomy)
o Carotid aneurysm
o Carotid Dissection (triad of pain, ipsilateral Horners and cerebral or retinal ischaemia)
Idiopathic
Congenital heterochromia of the iris (grey-blue on the affected side)
Migraine causes intermittent Horners syndrome
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Frontal lobe
Grasp reflex and palmomental reflex, glabella tap
Optic atrophy
Anosmia
Expressive dysphasia
Labile emotion, personality changes
Urinary catheter
Gait apraxia
Temporal lobe
Superior quandrantonopia
Receptive dysphasia
Short and long term memory
Occipital Lobe
Cortical blindness
Hemianopia with macula sparing
Aetiology
Proceed to check pulse, carotid bruit, murmur, hyperlipidemia, DM dermopathy and tar stains
Request BP, urinalysis for DM and fundoscopy (papilledema)
Complications
DVT, sacral sore, bedside swallow test, aspiration pneumonia
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UPPER LIMBS!
42. Upper Limbs Overview
Motor
o Unilateral vs bilateral
o Proximal vs distal vs entire UL
o Myopathy, Neuromuscular and Neuropathy
Sensory (See Lower Limbs)
o Peripheral neuropathy
o Mononeuropathy/mononeuritis multiplex
o Rediculopathy
Movement disorders
Motor
Distally
Wasted hands
o Myopathies
o Nerve (Think of levels)
Mononeuropathy
Ulnar
Median
Radial
Combination of above three
Peripheral neuropathy
Brachial plexus
Roots
Anterior Horn
Spinal cord
Claw hands
o Partial claw ulna claw hand (r/o dupytrens contracture)
o Total claw
Neurological combined ulna and median, leprosy, brachial, polio, syringomyelia
Non-neurological RA, ischaemic contracture, Scleroderma
Proximally
Proximal myopathy, Dystrophia myotonica
Myasthenia gravis
Syringomyelia, Radiculopathy, upper brachial plexus
Entire Upper Limb
Bilateral
o Cervical myelopathy
o Syringomyelia
o MND
o Spinal Muscular Atrophy
o Polyradiculopathy
o Bilateral Brachial Plexus (trauma or bilateral cx Rib)
Unilateral
o Polio
o Brachial neuritis
o Polyradiculopathy
o Hansens disease
o Hemiparesis
o Infantile hemiplegia
o Brown-Sequard
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Movement disorders
Parkinsonism
Chorea and movement disorders
o Think: 3,3,3
Peripheral : Parkinsonsim, Rh heart, SLE
Face: Wilsons, Hyperthyroidism, Polycythaemia
Request: CVS, Drug, AMT for Huntington
Hemiballismus
Cerebellar
o Think
Unilateral: 4
Stroke and CNs and risk factors
SOL and CNs
Parkinsonism
MS
Bilateral (2/2/2/2/2/2)
ULs
o Alcohol
o Parkinsonism
o (NF)
Eyes
o Wilsons, MS
Mouth
o Hypothyroidism
o Phenytoin
o (Alcohol)
LLs
o FA
o (Ataxia telangiectasia)
General
o Wasting (paraneoplastic)
o Bilateral strokes
Requests
o Drugs
o Infection
94
95
Questions
What is the course of the radial nerve and its branches?
o C5, 6,7,8, T1 and emerges from the posterior cord of the brachial plexus
o Leaves the axilla and enters the arm between the long head and medial heads of the triceps and supplies the
triceps
o Spiral groove on the back of the humerus between the lateral and medial heads of the triceps
o Lower third of the humerus, it pierces the intermuscular septum to enter the anterior compartment of the arm
where it supplies the brachioradialis
o It gives off a branch supplying the extensor carpi radialis longus
o At the elbow, ie lateral epicondyle of the humerus, it gives off the posterior interosseous nerve which supplies all
the extensors of the forearms including the abductor pollicis longus and supinator except the extensor carpi
radialis longus
o The radial nerve continues as the superficial radial nerve which provides sensory innervation of the posterior
aspects of the radial 3 digits.
What are the various levels of lesions and what are the correlating clinical features?
o Axilla eg crutch palsy All gone including triceps and triceps reflex
o Humerus
Upper third all is lost
Middle third
triceps and triceps reflex preserved and brachioradialis and below is lost
Saturday night palsy
Lower third triceps and brachioradialis is preserved
o Elbow
Like lower third
Only the PIN involved
Extensors of the fingers at the MCPJ affected only
Wrist drop is not a feature as the extensor carpi radialis longus is intact and this alone can
effect wrist extension
o Forearm
PIN involvement
Superfical radial nerve palsy; aka Watenberg syndrome which is an entrapment syndrome where there
is pain and numbness over its distribution of the first web space dorsally only because of overlap
What are the causes?
o Trauma form accident or surgery
o Compression or entrapment
o Part of a mononeuritis multiplex
o Lead poisoning
o (for PIN, finger drop can be secondary to synovitis from RA)
How would you investigate?
o Detailed history for the cause
o X-ray for fracture, healing callus or tumor
o EMG and NCT to locate the level of injury and to monitor recovery progress
How would you manage?
o Education and counselling
o OT and PT with a wrist splint and cock-up splint for finger drops
o Surgical
Whats the prognosis?
o Neuropraxia with no disruption to the sheath or the axon
Recovery complete and rapid (weeks)
o Axonotmesis with disruption of the axon but an intact Schwann sheath
Recovery complete but slower (1mm/day)
o Neuronotmesis
Recovery is incomplete
96
97
Questions
What is the course and branches of the median nerve?
It supplies all the muscles of the forearm except the flexor carpi ulnaris and the ulna half of the flexor digitorum profundus
and LOAF (lateral 2 lumbricals, opponens pollicis, abductor pollicis brevis and flexor pollicis brevis)
Formed by lateral(C5-7) and medial(C8,T1) cords of the brachial plexus
Enters the arm closely related to the brachial artery with no branches above the elbow
Enters the forearm lateral to the brachialis tendon and in between the pronator teres.
Gives off the anterior interosseous nerve
Above the wrist, gives off the palmar cutaneous branch
Enters the carpal tunnel and supplies LOAF and sensory branch to the lateral 3 fingers.
Branches
Forearm flexor carpi radialis, flexor digitorum superficialis (flexion of fingers at the PIPJ), pronator teres
AIN Flexor pollicis longus (flexion of the DIPJ thumb), flexor digitorum profundus of the lateral 2 fingers (flexion of at
the DIPJ), pronator quadratus
Palmar cutaneous (to the thenar eminence)
Terminal motor (LOAF) (NB for F for flexion at the MCPJ thumb)
What are the various levels of lesions and the clinical correlation?
Wrist
Wasting of thenar, ext rotated thumb, pen touch test positive; sensory loss of the lateral 3 fingers
Cubital fossa
Above plus
Oschner clasping test positive and failure of flexing the terminal digits of the thumb and index finger
Arm and axilla (same as cubital fossa)
(For forearm, depends where the lesion is eg AIN syndrome will affect flexor digitorum profundus and flexor pollicis longus
only)
What are the causes?
Trauma
Surgical
Compression
Mononeuritis multiplex
Infection Leprosy
Inflammatory CIDP
Ischaemic - Vasculitis
Causes of Carpal tunnel syndrome
Idiopathic
Pregnancy, OCPs
Endocrine Hypothyroidism, Acromegaly
Hands RA, gout, TB tenosynovitis, OA of
carpus
Amyloidosis, CRF, sarcoidosis
98
99
There is weakness of finger abduction and Froments sign is positive. There is preservation of the flexion of the DIPJ of the 4 and
th
5 fingers; when the hand is flexed to the ulna side against resistance, the tendon of the flexor carpi ulnaris is palpable. This is
associated with reduced sensation to pinprick in the medial 1/1/2 fingers. There are no associated median or radial nerve palsies
and T1 involvement.
In terms of aetiology, there is a scar at the wrist associated with a marked ulnar claw hand, demonstrating the ulna paradox. I did
not find any signs to suggest leprosy such as thickened nerves, hypopigmentation patches or finger resorption.
Both coarse and fine motor function of the hand is preserved.
In summary, this patient has a left ulna claw hand due to a traumatic injury to the left wrist.
100
Questions
What is the anatomical course of the ulnar nerve?
th
It provides motor to all muscles of the hands except the LOAF; flexor carpi ulnaris and flexor digitorum profundus to the 4 and
th
5 fingers.
Sensory to the ulna 1 fingers
Begins from the medial cord of the brachial plexus (C8 and T1)
No branches in the arm
Enters the forearm via the cubital tunnel (medial epicondyle and the olecranon process) and motor supply to the flexor carpi
ulnaris and ulna half of the flexor digitorum profundus
It gives off a sensory branch just above the wrist and enters Guyons canal and supplies the sensory medial 1 fingers and
hypothenar as well as motor to all intrinsic muscles of the hands except LOAF.
What is the level of lesions and its clinical correlation?
Wrist Hypothenar eminence wasting, Froments positive, weakness of finger abduction, pronounced claw and loss of
sensation
Elbow less pronounced claw and loss of terminal flexion of the DIPJ and loss of flexor carpi ulnaris tendon on ulna flexion of
the wrist
How do you differentiate ulnar nerve palsy vs a T1 lesion?
Motor wasting of the thenar eminence in addition for T1
Sensory loss in T1 dermatomal distribution
What is the ulna claw hand?
th
th
th
th
It refers to the hyperextension of the 4 and 5 MCPJ associated with flexion of the IPJs of the 4 and 5 fingers as a result of
th
th
ulnar nerve palsy. It is due to the unopposed long extensors of the 4 and 5 fingers in contrast to the IF and MF which are
counteracted by the lumbricals which are served by the median nerve.
What is the ulnar paradox?
It means that the ulnar claw deformity is more pronounced for lesions distally e.g. at the wrist as compared to a more proximal
lesion e.g. at the elbow. This is because a more proximal lesion at the elbow also causes weakness of the ulnar half of the flexor
th
th
digitorum profundus, resulting in less flexion of the IPJs of the 4 and 5 fingers.
What is Froments sign?
Patient is asked to grasp a piece of paper between the thumbs and the lateral aspect of the index finger. The affected thumb will
flex as the adductor pollicis muscles are weak. (Patient is trying to compensate by using the flexor pollicis longus supplied by
median nerve)
What are the causes of an ulnar nerve palsy?
Compression or entrapment (Cubital tunnel at the elbow and Guyons canal at the wrist)
Trauma (Fractures or dislocation cubitus valgus leads to tardive ulnar nerve palsy)
Surgical
Mononeuritis multiplex
Infection leprosy
Ischaemia Vasculitis
Inflammatory - CIDP
How would you investigate?
Blood Ix to rule out DM if no obvious cause
X-rays of the elbow and wrist (both must be done to rule out double crush syndrome) (KIV C-spine and CXR)
EMG(axonal degeneration for chronic) and NCT(motor and sensory conduction velocities useful for recent entrapment as well
as chronic) to locate level and monitor
How would you manage?
Education and avoidance of resting on elbow
OT, PT
Medical NSAIDs and Vit B6
Surgical decompression with anterior transposition of the nerve
NB: LOAF lateral 2 lumbricals, opponens pollicis, abductor pollicis brevis and flexor pollicis brevis
101
102
Bilateral
Think of
Rule out the obvious (hand screen)
RA, gouty hands
Dystrophia myotonica
Levels (got myopathy, maybe brachial plexus if bilateral Cx ribs)
Distal myopathy (reflexes normal; rare), dystrophia myotonica
Peripheral nerve lesions
Combined CTS (see median nerve palsy)
Combined ulnar and median nerve
Leprosy (resorption, hypoaesthetic macule and thickened nerve)
HMSN (look at the feet for pes cavus deformities, thickened nerves)
Peripheral motor neuropathy
(Not likely to be brachial plexus unless bilateral Cx ribs)
Nerve roots
Cervical spondylosis (inverted supinator jerk, increased jerks for high cervical cord lesions)
Anterior Horn cell (no sensory loss)
MND (fasciculations)
Poliomyelitis
SMA
Spinal cord lesions
Intramedullary (Syringomyelia dissociated sensory loss)
Extramedullary
Request
LL spastic paraparesis ( if suspect Cx cord, MND)
Lower cranial nerve (bulbar palsy if suspect MND or syringomyelia)
Proceed as
Long case
Proceed as per normal
Examine or request to examine the neck (pain tenderness and pain on neck movements), chest, CNs and LLs
accordingly
Short case
Neurological hand screen
Median and ulnar nerve testing, and wrist drop( because this is also weak in C8 root lesions)
Sensory peripheral nerve vs neuropathy vs root
Check the elbows for thickened nerves
Look for fasciculations (peripheral nerve, neuropathy, MND), hypoaesthetic macules
Inspect the neck
Quick glance at the face (NG tube bulbar palsy, LLs HMSN)
Check function
Request for reflexes, percussion myotonia if deemed appropriate (if suspect Cx cord lesion or dystrophia myotonica)
103
Questions
What are the levels and causes?
Disuse atrophy (RA hands)
Myopathy (distal myopathies or dystrophia myotonica usually forearms more affected)
Peripheral neuropathy - motor (see causes in Neurology segment)
Mononeuropathy
Surgical, trauma or compression
Mononeuritis multiplex, infection, inflammatory and ischaemic
Brachial Plexus
Surgical, trauma compression (Pancoasts, Cx rib)
Brachial neuritis
Nerve root (Disc prolapse)
Anterior Horn cell
MND, poliomyelitis, SMA
Spinal cord
Intramedullary
Extramedullary
How would you Ix?
Blood Ix according to causes as above
Imaging X-rays, CT or MRI of spine
NCT/EMG
What are the causes of a claw hand?
Partial claw
Ulnar nerve palsy (See Ulnar nerve)
True Claw
Non-neurological
RA
Severe Volkmanns ischaemic contracture
Neurological (5)
Combined median and ulnar nerve
Leprosy (reflexes present. Pain loss, thickened nerves)
Lower brachial plexus ( C7-T1, selective loss of reflexes, pain loss)
Poliomyelitis (reflexes selective, pain intact)
Syringomyelia (reflexes absent, pain loss)
104
47. Syringomyelia
Examination
Proceed as per normal for the upper limbs
Once dx is made, request
o Examine the neck
Scars of previous Sx
Scoliosis
o The cranial nerves
Horners syndrome
Ataxia and nystagmus
Bulbar palsy (syringobulbia)
Loss of temperature and pain sensation from the outer part of the face progressing towards the center
o The lower limbs
Spastic paraparesis
Presentation
Sir, this patient has got syringomyelia as evidenced by
LMN pattern of weakness of both ULs
o Wasting and weakness of the small muscles of the hands and forearms
o Reduced tone and reflexes
There is dissociated sensory loss with
o Loss of sensation to pinprick in the ULs and upper chest
o With intact sensation to vibration and proprioception
I also noticed presence of
o Scars and old burn marks on his fingers
o But I did not detect any Charcots joints of the ULs
o La main succulente ugly, cold, puffy, cyanosed hands with stumpy fingers and podgy soft palms
Examination of the face
o There was no evidence of bulbar palsy
Palatal movements were normal, and CN XI and XII were intact
o There was also no Horners syndrome
o No ataxia or nystagmus
o However there is loss of sensation to pinprick of the face in an onion skin pattern
Examination of the neck
o No surgical scars noted
o No kyphoscoliosis
Examination of the lower limbs
o Spastic paraparesis
In summary, this patient has syringomyelia with presence of wasting of the upper limbs, dissociated sensory loss and spastic
paraparesis of the lower limbs. This has resulted with complications of repeated trauma of his hands.
105
Questions
What is syringomyelia?
Cavity formation with presence of a large fluid filled cavity in the grey matter of the cervical spinal cord which is in
communication with the central canal and contains CSF.
Triad of LMN weakness of the ULs, dissociated sensory loss in the ULs and UMN weakness in the LLs
How do patients present?
th
th
Rare disorder, 4 to 5 decades, male=females
Painless trauma or burns in the upper limbs, poorly localised pain in the ULs
What is the pathophysiology?
At the level of the syrinx
o LMN anterior horn cell affected
o Dissociated sensory loss affects the decussating fibres of the spinothalamic tract
Below the level of the syrinx
o Affecting the pyramidal corticospinal tract with spastic paraparesis of the LLs and preservation of sphincters
Extension into the upper cervical cord and medulla
o Horners syndrome
o Bulbar palsy (CN IX-XII)
o Ataxia and nystagmus ( affects the medial longitudinal bundle if lesion from C5 upwards)
o Onion skin pattern loss of pain in the face (spinal nucleus of V CN which extends from the pons to the upper cervical
cord)
What are the differential diagnoses for dissociated sensory loss?
Anterior spinal artery occlusion (affects the spinothalamic tract)
DM neuropathy, leprosy, hereditary amyloidotic polyneuropathy
What are your differential diagnoses for syringomyelia?
Craniovertebral anomalies
Spinal cord injuries
Intramedullary tumours of the spinal cord
Arachnoiditis around the foramen magnum obstructing CSF flow
Hematomyelia
What are the associated abnormalities?
Arnold-Chiari malformation
Bony defects around the foramen magnum
Hydrocephalus
Spina bifida
Spinal cord tumours
How would you Ix?
MRI scan of the spinal cord
How would you manage?
Drainage of the syrinx to the subarachnoid space
Syringoperitoneal drainage
In AC malformation, cervical laminectomy and removal of the lower central portion of the occipital bone
Intramedullary tumour excision
What is syringobulbia?
Syrinx in the medulla of the brainstem
Usually extension of the syringomyelia but can be isolated
Results in
o Horners
o Ataxia and nystagmus
o Bulbar palsy
o CN V, VII, IX and X especially
o Onion skin pattern of loss of pain sensation of the face
106
Questions
What are the types of muscular dystrophies you know of?
1. Duchennes
Sex linked
Pseudohypertrophy of the calves or deltoids
Gowers sign, proximal weakness
Cardiomyopathy
Beckers
Sex linked
Later onset and less severe form of Duchennes
2. Limb-girdle
Autosomal recessive
Shoulder and pelvic girdle affected
Third decade
Sparing of the face and heart
Fascioscapulohumeral
Autosomal dominant
Bilateral, symmetrical weakness of the facial and SCM with bilateral ptosis
Weakness of the shoulder muscles and later the pelvic girdle muscles
3. Dystrophia myotonica
Congenital myotonia
Hereditary paramyotonia
4.
What is myotonia?
Continued contraction of the muscles after voluntary contraction ceases, followed by impaired relaxation.
What is dystrophia myotonica?
Characteristic clinical appearance with myotonia and weakness with no sensory loss
Autosomal dominant with a trinucleotide (AGC) repeat disorder on chromosome 19
Anticipation phenotypic expression worsens with each successive generation
rd
th
Onset in the 3 or 4 decade
Males>females
In addition to the characteristic facies and musculoskeletal involvement
Intellectual and personality disorder
Cataracts posterior subcapsular cataracts which are stellate type
CVM dilated cardiomyopathy and conduction defects
Resp recurrent infection from weakness of the bronchiolar musculature, hypoventilation and post-anaesthetic respiratory
failure
Abdomen dysmotility and dysphagia
Testicular atrophy and gynecomastia
Diabetes mellitus
Nodular thyroid enlargement
How would you investigate?
Confirm Diagnosis
EMG dive bomber pattern ie waxing and waning of the potentials
Muscle biopsy shows no inflammatory changes with type 1 fibre atrophy which is characteristic but not diagnostic
DNA analysis
Muscle enzymes are normal
Screen for Complications
FPG screen for diabetes mellitus
ECG heart blocks, small P, prolonged PR, notched QRS and prolonged QTc
CXR enlarged heart
Slit-lamp examination for cataracts
How would you manage?
Education, genetic counselling
PT/OT eg foot orthosis for foot drop
Medications phenytoin for myotonia, other anti-myotonic medications such as quinine and procainamide should be avoided
due to aggravation of cardiac conduction defects; however it is the weakness that causes disability and not myotonia
rd
Pacemaker for 3 degree heart block or symptomatic such as syncope
108
109
Presentation
Unilateral
Sir, this patient has a right sided unilateral cerebellar lesion as evidenced by presence of a right dysmetria, dysdiadochokinesia and
dyschronometria of the right upper limb. The right lower limb also demonstrates presence of right dyssynergia on heel shin test,
with right dysmetria and intention tremor on toe-finger test and dysdiadochokinesia. This is associated with a gazed evoked
nystagmus on rightward gaze with a broad based gait with veering towards the right. I did not detect any cerebellar speech or any
truncal ataxia.
There are no associated cranial neuropathies. In particular there was no evidence of any cerebello-pontine angle lesion with CN V,
VI, VII and VIII intact. (There are also no signs of neurofibromatosis such as neurofibromas or caf-au-lait spots.) There is also no
evidence of lateral medullary syndrome or III nerve palsy to suggest Benedikts syndrome. There is also no pronator drift on the
right to suggest a right ataxic hemiparesis.
Patient is in sinus rhythm and not in atrial fibrillation with no xanthelesma or diabetic dermopathy. There are also no bruises to
suggest overanticoagulation.
There are no signs of Parkinsonism to suggest presence of multiple system atrophy. There are also no associated features of
multiple sclerosis such as RAPD or INO.
I would like to complete the examination by looking at
1. The patients temperature chart for fever (abscess in posterior fossa)
2. Visual fields for a left sided hemianopia, which can occur with a right posterior circulation stroke
3. I would also like to do a fundoscopy for papilloedema for a SOL in the right cerebello-pontine lesion as well as for optic atrophy
from demyelinating disease.
In summary, this patient has got an isolated right cerebellar lesion. The differential diagnoses include cerebral vascular infarction or
haemorrhage or a space-occupying lesions such as a mitotic lesion or an abscess.
Bilateral
Sir, this patient has bilateral cerebellar lesions as evidence of dysmetria with intention tremor bilaterally associated with
dysdiadochokinesia. Similar findings were also present on examination of the lower limbs. There is also presence of multidirectional gaze evoked nystagmus associated with a cerebellar speech, truncal ataxia and a broad based gait.
There is no evidence of bilateral CPA lesion with no CN V, VI, VII and VIII abnormalities. Patient is in sinus rhythm and not in AF
with no xanthelesma or diabetic dermopathy.
There is no evidence of KF rings to suggest presence of Wilsons disease. There is also no RAPD or INO to suggest multiple
sclerosis. There is also no gingival hypertrophy to suggest chronic phenytoin use. Patient has no goitre or features of
hypothyroidism such as a cream and peaches complexion, no hoarseness of voice or macroglossia. There are also no features of
chronic ethanol ingestion such as Parotidomegaly, dupytrens contracture or stigmata of chronic liver disease. There is no
associated Parkinsonism signs to suggest multiple system atrophy such as presence of cog-wheeling or leadpipe rigidity. There are
also no neurofibromas present to suggest presence of NF type 2. Patient is also not cachexic looking and there is no clubbing to
suggest underlying malignancy.
I did not detect any telengiectasia to suggest presence of Ataxia telengiectasia and there is pes cavus to suggest Friederichs
ataxia. (Think of Wilsons, MS, Phenytoin, Hypothyroid, Alcohol, Parkinsonism, NF, paraneoplastic, telangiectasia and FA)
I would like to complete the examination by
1. Looking at the temperature chart for fever
2. Performing a neurological examination of the lower limb to look for spastic paraparesis
3. I would also like to do a fundoscopy for Optic atrophy, which may suggest demyelinating disease.
In summary, this patient has bilateral cerebellar syndrome. Possible causes include drugs such as phenytoin, metabolic conditions
such as hypothyroidism, chronic ethanol ingestion, paraneoplastic conditions and infection such as enteroviruses and bilateral
cerebellar strokes.
111
Questions
What are the differential diagnoses for a unilateral cerebellar syndrome?
Isolated
Cerebrovascular accident infarction or haemorrhage
SOL in posterior fossa abscess or mitotic (primary vs secondary)
Associated
CN
CPA and/or neurofibromatosis
Lateral medullary syndrome
Jugular foramen (Arnold-Chiari or Dandy-Walker)
Benedikts syndrome
Ataxic hemiparesis (lacunar stroke)
Parkinsonism in Multiple system atrophy
Demyelinating such as Multiple sclerosis
What are causes of bilateral cerebellar syndrome?
Acquired
Infection
Viral HIV, Enteroviruses
Spirocheatal Lymes and Tabes dorsalis
Others Toxoplasmosis and CJD
Metabolic
Wilsons disease
Hypothyroidism
Drugs
Phenytoin and Carbamazepine
Lithium
Alcohol
Causes bilateral cerebellar signs
Causes isolated lower limb cerebellar signs
Affects the anterior vermis
Due to thiamine deficiency
Multiple system atrophy
Neurofibromatosis type 2 with bilateral CPA tumor
Bilateral Strokes
Paraneoplastic Ca lung or ovary
Hereditary
Ataxia telangiectasia
Autosomal recessive
Childhood with death by 20s or 30s
Ataxia, choreathetosis and telengiectasia on the face, eras and conjunctiva and skin crease
Low IgA with recurrent chest infections and lymphoreticular malignancy
Friederichs ataxia
Scoliosis, pes cavus
Spastic paraparesis, dorsal column loss, absent ankle jerks
What are the signs of a midline lesion (cerebellar vermis) and what are the causes?
Signs : truncal ataxia, abnormal heel-toe walk test, cerebellar speech
Causes : Midline tumor, paraneoplastic
What are the causes of cerebellar signs with spastic paraparesis?
Friederichs ataxia
Spinocerebellar ataxia
Arnold-Chiari Malformation
Lesion at the craniospinal junction eg meningioma
Syringomyelia
Multiple sclerosis
Syphilitic meningomyelitis
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113
50. Chorea
(Beware the Parkinsonism with dyskinesia!)
Approach
1. Introduce, sit the patient
2. Lift up hands
a. Involuntary athetoid movements/choreiform movements
b. Choreic posture
c. Dish spooning
d. Pronator drift
e. Milk-maids grip
f. Look for wasting of the muscles and joint deformities
g. Look for erythema marginatum and subcutaneous nodules
h. Check for Parkinsonism
i. SLE signs
3. Check for long tract signs especially if hemiballismus or one sided
4. Eyes
a. KF rings
b. Conjuctival suffusion
c. Dysthyroid eye disease, nystagmus
d. Plethoric facies
e. Darting tongue
f. Goiter
5. Walk the patient effeminate gait, Parkinsonian gait
Presentation
Sir, this patient has chorea/athetosis affecting her left hand. I say this because of presence of brief, abrupt, irregular, quasipurposeful movements of the left hand with writhing and twisting movements (athetosis). There is choreic posturing of the left hand
with a flexed wrist and an extended mcpj; with dish spooning and milk maid grip, associated with darting tongue and an effeminate
gait.
There were no features of Parkinsonism to suggest that dyskinesia is secondary to L-dopa therapy. There was no evidence of
erythema marginatum or subcutaneous nodules which can occur in rheumatic heart disease. There is also no cutaneous rash to
suggest SLE. There is also no pronator drift.
There are also no KF rings or nystagmus to suggest Wilsons disease. There are no signs of polycythemia rubra vera as I did n ot
notice any plethoric facies, conjunctival suffusion or pruritic scratch marks. There are also no goiter or thyroid eye signs.
I would like to complete the examination by performing a cardiovascular examination to look for evidence of rheumatic heart
disease, a mini-mental state examination for dementia as this occurs in Huntingtons chorea, as well as take a drug history of
neuroleptics and L-dopa and a past history of encephalitis.
114
Questions
What are the different types of movement disorders that you know about?
Tremors
Resting tremor of Parkinsonism
Intention tremor of Cerebellar
Postural tremor of outstretched hands
Anxiety
Thyrotoxicosis
Alcohol
Drug induced salbutamol, terbutaline, theophylline, Li
Drug withdrawal BZD, opiates
Familial
Chorea (globus pallidus)
Athetosis
Hemiballismus (subthalamic nucleus)
Infarct
Others abscess, tumor, MS, AVM
Search for CVS risk factors
Rx haloperidol, treat CV risk factors and Sx eg contralateral thalomotomy or pallidotomy
Orofacial dyskinesia
Secondary to antipsychotics usually, in pts with SZ
One of the 4 EPSE
Acute dystonia (oculogyric)
Parkinsonism
Akathisia (restless legs syndrome)
Tardive dyskinesia (or orofacial dyskinesia)
What are the causes of choreathetosis?
CVA/tumors affecting the globus pallidus (Benedikts syndrome - III)
Metabolic Wilsons disease
Endocrine Hyperthyroidism, post-hyperglycemia
CTDs SLE
Polycythemia
Rheumatic heart disease Sydenhams chorea
o Most recover within one month
Huntingtons Chorea
Drugs neuroleptics, L-dopa, phenytoin, OCPs
Post encephalitis
CO poisoning
What is Huntingtons disease?
Young adult, chorea and dementia
AD, Chr 4, CAG trinucleotide repeats
115
LOWER LIMBS!
51. Lower Limbs Overview
Pes cavus
CMT
Spina Bifida
Poliomyelitis
Spinal cord tumours
Freiderichs ataxia/spinocerebellar degeneration
Syringomyelia
Cerebral Palsy
Muscular dystrophies
Fasciculations (LMN type, MND)
Wasting
Bilateral
Proximal weakness
Wasting distally (Pes Cavus, Peripheral neuropathy)
Spastic paraparesis (L&P 104)
Cerebellar (MS/FA/Syphilitic meningomyelitis/Craniospinal jn/SCA)
Sensory level (Lumbar/Thoracic/Cervical ULs/Above high Cx, CP)
Dorsal Column Loss (SACD/Taboparesis/MS/FA)
Mixed (Babinski + absent reflexes see below)
Friederichs ataxia
SACD
Tabo-paresis
MND
UMN + cauda equina or peripheral neuropathy(CVA+alcoholic/DM)
MND
Flaccid paraparesis
Wasted
GBS/CIDP/HMSN/Hansens
Poliomyelitis
Spina Bifida
No wasting
Peripheral GBS, HMSN, paraneoplastic, paraproteinemia, amyloid
Cord compression
Others Miller-Fisher, MG, Periodic paralysis, botulism/diphtheria/organophosphate/Hg/Pb, AIP(BP)
MND
Bilateral Footdrop
Unilateral
Foot Drop
Bilateral (Peripheral neuropathy motor predominant, flaccid, spastic)
Unilateral
Peripheral neuropathy, CPN
Sciatic nerve
Root or anterior horn cell
Look for complications- trophic ulcer, interventions walking callipers
Unilateral Peripheral neuropathy, lumbosacral plexus, polyradiculopathy, polio (LMN)
Brown-sequard (UMN)
Diabetic amyotrophy
Hemiparesis (UMN)
Sensory loss
Peripheral neuropathy
Mononeuropathy
Polyradiculopathy
Lumbosacral Plexus
Dissociated sensory loss, spinal cord level
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Others
Gait
Cerebellar
Unilateral
Cerebellar Vascular, MS, SOL eg abscess or tumour
Combined Lateral medullary syndrome, CPA tumour, ataxic hemiparesis
Bilateral
hypothyroidism, Wilson, Alcoholic cerebellar degeneration(spares the ULs), drugs phenytoin, paraneoplastic,
Parkinson plus
large CVAs, SOL, MS
plus all causes of spastic and cerebellar
Midline paraneoplastic, midline tumour
Spastic and Ataxic combined
Spinocerebellar degeneration
Friederichs ataxia
Multiple sclerosis
Syphilitic meningomyelitis
Craniospinal junction abnormalities Arnold-Chiari, meningioma
Non conforming
Myasthenia Gravis
Mononeuritis multiplex
Motor neurone disease
Giddiness/Unsteadiness protocol
Giddiness
o Cerebellar
o Vestibular
o Postural BP
Unsteady gait
o Cerebellar
o Parkinsonism
o Sensory ataxia (Proprioception)
o Others hemiplegic gait, cervical myelopathy etc etc
Examination for unsteady gait
o Start with Lower Limbs FIRST
As per LL protocol
Concentrate on cerebellar, sensory ataxia and Parkinsonism
Examine the gait!
o Proceed with Parkinsonism protocol if Parkinsonian gait
o Proceed with cerebellar protocol if cerebellar signs
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Presentation
Obvious disease
HMSN
Sir, this patient has got HMSN/CMT as evidenced by
Bilateral pes cavus with clawing of toes and distal wasting of the lower limbs with a inverted champagne bottle
appearance; there is hypotonia with reduced reflexes and downgoing plantar responses a/w weakness of the lower
limbs of power 4/5 with bilateral foot drop; there is no associated sensory disturbance; she has a high steppage gait
form bilateral foot drop and is able to walk independently inspite of the marked feet deformity; I also noticed presence
of wasting and clawing of the upper limbs; there is no palpable thickened lateral popliteal nerve.
I would like to complete my examination by examining the spine back for scoliosis and palpate for other sites of
thickened nerves
Mention walking aids or wheelchair
Polio
Sir this patient has monoparesis of the right LL most likely due to polio
A shortened right lower limb associated with wasting. It is hypotonic with reduced reflexes and downgoing plantar
response and is flaccid with a power of 3/5. There is no sensory weakness.
There is no UMNs or shortened wasted right UL to suggest infantile hemiplegia
Examination of the back did not reveal any cutaneous signs of spina bifida.
Mention any walking aids/wheelchair
Not so obvious
Sir, this patient has got flaccid paraparesis as evidenced by
Presence of hypotonia with reduced reflexes a/w with downgoing plantar responses bilaterally; I did not detect any
fasciculations. There is weakness of the LLs with a power of 3/5. There is no associated cerebellar signs in the LLs and no
sensory loss to pin prick, propioception and vibration.
Complete my examination
Back
Per rectal
ULs for ataxia, flaccid paresis
CNs for cranial neuropathies
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Questions
What are the causes of flaccid paraparesis?
Acute myopathies
Inflammatory myopathy (polymyositis, dermatomyositis)
Rhabdomyolysis (extreme exertion, drugs, viral myositis, crush injury etc.)
Acute alcoholic necrotizing myopathy
Periodic paralyses (hypokalemic, hyperkalemic)
Metabolic derangements (hypophosphatemia, hypokalemia, hypermagnesemia)
Thyroid or steroid myopathy
Neuromuscular
Myasthenia gravis
Botulism
Tick paralysis
Other biotoxins (tetradotoxin, ciguatoxin)
Organophosphate toxicity (can also cause neuropathy)
Lambert-Eaton Myasthenic Syndrome (LEMS)
Nerve
Diphtheria
Porphyria
Drugs & Toxins (arsenic, thallium, lead, gold, chemotherapy cisplatin / vincristine)
Vasculitis (incl. Lupus, polyarteritis)
Paraneoplastic and Paraproteinemias
Multifocal motor neuropathy
Nerve roots
Guillian Barre Syndrome
Lyme disease
Sarcoidosis
HIV
other viruses (CMV, VZV, West Nile)
Cauda equina syndrome (lumbar disc, tumour, etc.)
Plexus lesions (brachial plexitis, lumbosacral plexopathy)
Anterior Horn Cell (motor neuron diseases):
Amyotrophic lateral sclerosis (ALS) with UMN findings
Poliomyelitis
Kennedys disease (spinobulbar atrophy / androgen receptor gene)
other spinomuscular atrophies (inherited)
Anterior spinal artery syndrome (with grey matter infarction)
Spinal Cord (corticospinal tract diseases):
Inflammatory (Transverse myelitis)
Subacute combined degeneration (B12 deficiency)
Spinal cord infarction
other myelopathies (spondylosis, epidural abscess or hematoma
Brain
Pontine lesions (eg. Central pontine myelinolysis, basis pontis infarct or bleed)
Multifocal lesions (multiple metastases, dissemination encephalomyelitis [ADEM], multiple infarcts or hemorrhages eg.
DIC, TTP, bacterial endocarditis)
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3.
4.
Upper limbs
o Intact cerebellar and sensation to pinprick, proprioception and vibration (sensation may be lost)
o I would like to examine the upper limbs for
LMN signs, wasted hands
Syringomyelia, cervical myelopathy, MND
Inverted supinator jerks
C5-6 lesion
UMN signs
Bilateral strokes, high cervical myelopathy
5.
6.
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Questions
What is spinocerebellar ataxia?
A inherited disorders with multiple subtypes >20
Cs by cerebellar and spinal degeneration, slowly progressive with atrophy of cerebellum
Ataxia
o Acquired (see cerebellar)
o Hereditary
AD
Some involve trinucleotide repeats with high penetrance and anticipation
AR (FA)
X-linked
What is Friedreich Ataxia?
Hereditary ataxia, autosomal recessive, Ch 9, trinucleotide repeat
Cs by
o Symptomatic - during childhood and teenagers, inability to walk by 20s; onset <25
o Physical
pes cavus, distal wasting, spastic LL (pyramidal weakness), cerebellar signs, dorsal column loss (marked
loss of cells in the dorsal root ganglion) and absent knee and ankle reflexes (degeneration of peripheral
nerves)
Scoliosis
Request for
o Spine - scoliosis
o CVS HOCM
o Fundoscopy optic atrophy
o Urinalysis for glycosuria
o IQ intellectual deterioration
Differential diagnosis for spasticity, cerebellar and dorsal column loss is Multiple sclerosis; note that multiple sclerosis usually
has increased reflexes
Forme fruste of this condition is pes cavus or hammer toes without other signs
Dx Hardings criteria
o Clinical as above
o Ix small or absent sensory nerve action potentials, increased motor conduction velocity
Other well know conditions for spinocerebellar degeneration
o Refsums disease (elevated serum phytanic acid from defective lipid alpha oxidase optic atrophy, retinitis
pigmentosa, cardiomyopathy, ichthyosis and ataxia)
o Olivopontocerebellar degeneration
o Machado-Joseph disease (CAG repeats)
What is Multiple sclerosis?
See History Taking Notes
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What is taboparesis?
Cs
o Lightning pains electric shocks in the limbs, throat, stomach or rectum
o Physical
Spasticity with dorsal column loss (high stoppage gait), absent ankle jerks
Charcots joints, trophic ulcers
LL before ULs, rarely ULs involved first (= cervical tabes)
Incontinence and constipation
Argyll-Robertson pupils
Due to lewitic disease, neurosyphilis of which:
o Acute syphilitic meningitis
o Acute transverse myelitis
o Meningovascular disease (stroke in young patient, CN abnormalities)
o Tabes dorsalis
3 stages
Pre-ataxia
Ataxia
Paresis (= taboparesis)
o Taboparesis
o Generalised paralysis of the insane (GPI)/Dementia paralytica
Chronic progressive frontoparietal meningoencephalitis with atrophy
Dementia which classically progresses to grandeur and delusions
Trombone tremor (hands, lips and tongue)
o Gummata in the CNS
Caused by spirochetal infection, Treponema pallidum
Stages
o Primary painless chancre
o Secondary maculopapular rash, acute syphilitic meningitis
o Tertiary
Neurosyphilis obliterative small vessel endarteritis, affecting the vasa vasorum
Cardio syphilis
Gummatous syphilis
o Quaternary
Fulminant anergic necrotising encephalitis in HIV patients
Ix with VDRL/RPR, TPHA/FTA
o VDRL
Non-specific
False positive (EBV, malaria, SLE, RA, pregnancy, non syphilitic treponemal infection)
Titre use to monitor treatment and reinfection
o TPHA/FTA
Specific
Once positive, will remain positive even after treatment
Rx
o Symptomatic treatment
Lightning pains analgesia, TCAs, carbamazepine
Ataxia PT/OT
Bladder avoid anticholinergics, self catheterisation
o Penicillin
Beware the Jarisch Herxheimer reaction
From toxins released from killed spirochaetes
Starts 3-4 hrs and peaks at 6-8 hrs
Fever, HR, RR, myalgia, lethargy
Rx with steroids 1 day before and with salicylates
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Questions
What are the causes of peripheral neuropathy (mixed, sensory and motor)?
DAMIT BICH
o Drugs
INH, nitrofurantoin, chloroquine
Penicillamine, gold, cyclosporin A, phenytoin
vincristine, cisplatinum
o Alcohol, Arsenic(Mees, raindrop pigmentation), Pb(wrists and Pb lines in gums), Hg
o Metabolic DM, Uremia, AIP
o Infectious - Leprosy, HIV, botulism, diphtheria
o Inflammatory GBS (look for facial diplegia), CIDP
o Tumor paraproteinemia, paraneoplastic (Ca Lung), Hodgkins
o B12, B6 and B1
o Infiltrative Amyloid (look for thickened nerves and autonomic), sarcoid
o Immunological PAN, SLE, RA
o Congenital HMSN, Refsums disease, porphyria
o Cryptogenic
o Hormonal Acromegaly, hypothyroidism, hyperthyroidism
o POEMS (Polyneuropathy, Organomegaly, Endocrinoapthy, Monoclonal gammopathy, Skin changes a/w
osteosclerotic myeloma)
(NB: DM can be sensory, motor or mixed)
What are the causes of a painful peripheral neuropathy? (DAB, CAP)
DM, Alcohol, B12 deficiency
Carcinoma, porphyria, Arsenic
What are the causes of thickened peripheral nerves?
Median nerve (wrist), ulna nerve (elbow), common peroneal nerve (head of fibula), Greater auricular nerve (neck)
CHAOS
o CIDP
o HMSN
o Acromegaly, Amyloid
o Others
LS DNR Leprosy, sarcoid, DM, Dejerine Sotta disease (hypertrophic peripheral neuropathy), NF, Refsums
disease (retinitis pigmentosa, optic atrophy, cerebellar and deafness, cardiomyopathy ad ichthyosis)
What are the causes of mononeuritis multiplex (separate involvement of more than one peripheral or cranial nerve by the same
disease)?
Endocrine
o DM, Hypertension, Acromegaly
AI
o RA, SLE, PAN, Sjogren, Churg-Strauss, Wegeners
Infection
o Leprosy, Lyme, HIV
Infiltrative
o Amyloid, sarcoid
Carcinomatosis
What are the types of neuropathy in DM?
Symmetrical sensory neuropathy (glove and stocking)
Predominantly motor, asymmetrical (diabetic amyotrophy)
Mixed motor and sensory peripheral neuropathy
Mononeuropathy
Mononeuritis multiplex
Autonomic neuropathy
What are the neurological complications of alcohol?
Wernickes (confusion, ophthalmoplegia, cerebellar, neuropathy)
Korsakoffs psychosis (recent memory loss and confabulation)
Cerebellar degeneration
Central pontine myelinosis
Epilepsy
Myopathy and rhabdomyolysis
Peripheral neuropathy
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Questions
What is Charcots foot?
It is a chronic, progressive, degenerative, neuropathic arthropathy resulting from a disturbance from the sensory innervation of the
affected joint.
What are the causes of a Charcots foot?
Diabetes mellitus (toes and ankles)
Leprosy
Alcoholic neuropathy
Tabes dorsalis (hips and knees)
Myelomeningocele
Syringomyelia (upper limbs eg shoulder)
Others HSMN, congenital insensitivity to pain
What are the stages of Charcots foot?
Atrophic form usually forefoot with osteolysis of the distal metatarsal; X-ray shows MT resembling a pencil point
Hypertrophic form (mid or rear foot and ankle); Eichenholtz classification system:
Stage 0 Clinical stage with signs and symptoms but no joint deformity yet
Stage 1 Acute (Developmental or fragmentation stage)
Periarticular fracture with joint dislocation with unstable deformed foot
Tender, red and swollen, mimicking infection (but afebrile, normal TW and good DM control and no break in skin) or
gout
Stage 2 Subacute (Coalescence stage)
Resorption of bone debris
Stage 3 Chronic (Reparative stage)
Restabilization with fusion of the involved fragments
Enlarged and deformed, non tender
What is the pathogenesis of Charcots foot?
2 theories:
Neurotraumatic loss of pain sensation and proprioception combined with repetitive and mechanical trauma to the foot
Neurovascular Autonomically stimulated vascular reflex that causes hyperemia and periarticular osteopenia with contributory
trauma
How would you investigate?
Establish the diagnosis
In acute stage
X-ray to rule out OM; MRI or Indium scanning for infection
FBC for a normal TW; ESR or CRP normal in Charcots joint
Stage the Charcots joint from radiographs
Demonstrate loss of protective sensation of the foot
Semmes-Weinsten (10-g or 5.07 gauge) monofilament
Applied with just enough pressure to bend the monofilament
Positive if 4 out of 10 sites affected
Establish the cause
FPG for DM, VDRL
How would you manage?
Education and counselling
Early Dx to prevent deformity
PT/OT immobilization with total contact cast initially, paying particular attention to proper foot care and footwear; with ankle
foot orthoses and custom made footwear
Medications
Symptomatic in the acute stages, bisphosphonates
Surgical in chronic stage eg foot stabilisation procedures, exostosectomy
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58. Footdrop
Approach
Bilateral
LMN
Peripheral neuropathy (see peripheral neuropathy)
UMN
Cord lesion
Unilateral
Once dorsiflexion impaired
Check eversion (Common peroneal nerve = dorsiflex and eversion)
Check inversion and plantarflex = posterior tibial nerve
If foot drop and inversion and eversion is lost with normal plantarflexion, then L5 nerve root
If all gone = posterior tibial+common peroneal, sciatic nerve or plexus/roots
Knee flexion intact
Go to sensory
Peripheral neuropathy
Common peroneal nerve palsy (sensory loss over dorsum of the foot)
Determine if common peroneal nerve or
Deep branch only or
The superficial branch only
If knee flexion weak, test hip abduction and internal rotation and intact
Go to sensory
Sciatic nerve
If hip abduction and internal rotation is weak
Go to sensory
Nil = anterior horn cell
L4 and L5 dermatome = plexus or root
Once site is located, go for the cause
Note walking aids
Questions
Common peroneal nerve palsy (L4 and L5)
Anatomy
the sciatic nerve divides at the popliteal fossa into the tibial and common peroneal nerves
The posterior tibial nerves effects plantar flexion and inversion of the foot
The common peroneal nerves winds round the neck of the fibula, covered by s/c tissue and skin only and prone to
extrinsic compression
It then divides into the
Superficial branch: foot everters and sensation to lateral calves and dorsum of the foot
Deep branch : toe dorsiflexors and dorsiflexion of the ankle and sensation to the first interdigital web space
Therefore wasting of the peroneous and anterior tibialis muscles; weakness of dorsiflexion of the foot and eversion;
foot drop and high steppage gait and loss of sensory over the lateral aspect of the calf and dorsum of the foot
Causes of mononeuropathy (3 Sx and 3 Medical causes)
Trauma
Surgical
Compression at the neck of the fibula (habitual leg crossing, cast, brace)
Infection Leprosy
Inflammatory CIDP
Ischaemic - Vasculitis
Part of mononeuritis multiplex (Endo, AI, infection, infiltrative and cancer)
Ix = NCT and EMG
Mx
PT/OT 90 degrees splint at night
Sx for severed nerve or excision of ganglion
Sciatic nerve (L4 L5 S1 S2)
Weakness of the knee flexion also
Knee jerk is intact but ankle jerks affected and plantar response absent (for common peroneal nerve, all reflexes intact)
L5 nerve root
Weakness of hip abduction and internal rotation as well as loss of foot inversion (cf with common peroneal nerve)
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59. Hemiparesis/Hemiplegia
Examination
This man has a left hemiparesis, please examine him
For this, examine the UL and LL
Locate
o Brainstem
Webers syndrome (III and contralateral hemiplegia)
Millard-Gubler (VI and VII and contralateral hemiplegia; usually a/w contralateral loss of proprioception
and light touch as the medial lemniscal damage)
o Subcortical lacunar; a/w UMN VII
Pure motor (50%)
Pure sensory (5%)
Mixed motor and sensory (35%)
Ataxic hemiparesis (10%)
Dysarthria clumsy hand syndrome (rare)
o Cortical signs
Do abbreviated version
Gaze preference, sensory and visual neglect, hemianopia and dysphasia if dominant lobe involved
Causes or risk factors
o Pulse, Carotid bruit, murmur
o Dyslipidaemia stigmata (xanthelasma, xanthomas, thickened TA)
o DM dermopathy
o Tar stains
o Bruising, telangiectasia
Function and complications
o Upper limb
o Gait
o Pressure sores, NG, urinary catheter
Request
o BP
o Urine dipstick
o Fundoscopy for papilledema (to rule out SOL which is a possible differential)
Presentation
Sir, this patient has got a left hemiparesis as evidenced by
State the UL and LL findings
State the level of the lesion and justify as above
Mentioned the causes as above
Mention the functional status and complications
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Questions
What are your differential diagnoses?
Vascular
o Ischaemic (80%)
Intracranial thrombosis
Extracranial embolism heart, extracranial arteries, paradoxical
Lacunar strokes small vessel disease from DM or hypt as a result of lipohyalinosis
Dissection
o Haemorrhagic (Intracerebral, SDH, SAH)
Space occupying lesion
Infective abscess, meningoencephalitis
Seizures
Toxic-metabolic Hypoglycaemia, HypoNa
What are the 4 neuroanatomic stroke syndromes?
Anterior cerebral artery - affect frontal lobe function, producing altered mental status, impaired judgment, contralateral lower
extremity weakness and hypoesthesia, and gait apraxia.
Middle cerebral artery (MCA) - contralateral hemiparesis, contralateral hypoesthesia, ipsilateral hemianopsia (blindness in one
half of the visual field), and gaze preference toward the side of the lesion. Agnosia is common, and receptive or expressive
aphasia may result if the lesion occurs in the dominant hemisphere. Since the MCA supplies the upper extremity motor strip,
weakness of the arm and face is usually worse than that of the lower limb.
Posterior cerebral artery occlusions affect vision and thought, producing homonymous hemianopsia, cortical blindness, visual
agnosia, altered mental status, and impaired memory.
Vertebrobasilar artery occlusions are notoriously difficult to detect because they cause a wide variety of cranial nerve,
cerebellar, and brainstem deficits. These include vertigo, nystagmus, diplopia, visual field deficits, dysphagia, dysarthria, facial
hypoesthesia, syncope, and ataxia. Loss of pain and temperature sensation occurs on the ipsilateral face and contralateral
body. In contrast, anterior strokes produce findings on one side of the body only.
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Cerebellar
Unilateral or bilateral
+ high stepping = Sensory ataxia
Peripheral neuropathy or dorsal column loss
Crossing over
Scissoring gait
Spastic cerebral palsy, MS, cord compression
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61. Parkinsonism
Examination
Introduce
Mask like facies, monotonous speech, dyskinesias
Upper limbs
Resting tremors which disappears with use
Bradykinesia (thumb to finger, rotate wrist and twinkle stars
Leadpipe rigidity and cogwheeling
Acute dystonia or alien limb syndrome
Pronator drift and cerebellar signs
Palmomental reflex, grasp reflex
Face
Eye movements, vertical Dolls if vertical gaze impaired
Close eyes for blepharospasm
Feel for seborrhea
Look for KF rings
Count 1-20
Unbutton shirt, write, cap a pen, comb his hair
Gait typical parkinsonian gait; also rule out gait apraxia
Request
Speech if not done
Swallowing
Handwriting
Postural BP
AMT
Presentation
Sir, this elderly gentleman has Parkinsonism with mask like, expressionless facies. He has asymmetrical resting tremor of the right
hand with characteristic pill rolling movements of the thumb that disappears with use of the hand. There is also presence of
bradykinesia with leadpipe rigidity at the elbows and cogwheeling at the wrist. Movement of the contralateral upper limb
accentuates these features.
There is presence of seborrhea and Myersons sign or the glabella tap sign is positive.
He has difficulty initiating his gait and has a stooped posture associated with shuffling gait with festination and lack of normal arm
swing. He also turns in numbers. His gait is not apraxic and he is not on any urinary catheter to suggest NPH.
Functionally he is able to walk unaided and can perform keyturning movements and unbutton his short unaided.
There is no evidence of dyskinesias which can result as a result of L-dopa therapy.
He dose not have features suggesting presence of Parkinson-plus syndrome. There is no evidence of Progressive Supranuclear
Palsy such as impairment of the vertical gaze, blepharospasm or frontal lobe signs such as palmomental reflex and the grasp
reflex. There are also no cerebellar signs to suggest multisystem atrophy. There is also no evidence of corticobasal ganglia
degeneration such as dystonic arm or alien limb syndrome.
In summary, this patient has Parkinsonism most likely due to Parkinsons disease and relative preservation of his function; there is
no evidence of dyskinesia currently to suggest side effects of L-dopa therapy.
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Questions
What is Parkinsons disease?
It is a progressive neurodegenerative disorder associated with degeneration of the dopaminergic nigrostriatal neurons. Dx clinically
th
with 2 out of 3 signs comprising of resting tremors (3-5Hz), bradykinesia and rigidity. The 4 sign of postural instability occurs later
in the course of the disease.
What are the causes of Parkinsonism?
1. Parkinsons disease
2. Parkinson-plus syndromes
3. Drugs (Neuroleptics, antiemetics, MPTP- 1 methyl 4 phenyl 1,2,3,6 tetrahydropyridine)
4. Anoxic brain damage ( Post cardiac arrest, Manganese, CO)
5. Post encephalitis ( encephalitis lethargica or von Economos disease)
6. Tumor such as giant frontal meningioma
What are the pathologic findings in Parkinsons disease?
Loss of pigmented dopaminergic neurons in the substantia nigra
Presence of Lewy Bodies (eosinophilic cytoplasmic inclusions)
What are the Parkinson-plus syndromes?
Progressive supranuclear palsy (most common) (frontal lobe) (3)
Vertical gaze palsy
Downgaze affected first, then upgaze, then horizontal
Can be overcome by vertical Dolls
Other features such as blepharospam and slow pursuit or saccadic eye movements
Postural instability and axial rigidity with falls early in the course of the disease
Frontal lobe signs
Multiple sytem atrophy (Cerebellar)
MSA-P = Parkinsonism features
MSA-C = Cerebellar features
Features (3)
Cerebellar signs
Autonomic features orthostatic hypotension, urinary dysfn and erectile dysfn
Corticospinal signs hyperreflexia and extensor plantar response
Corticobasalganglionic degeneration (frontoparietal lobe)
2 features
Limb apraxia or alien limb syndrome
Dystonia
Parkinsonism-dementia-ALS complex
Diffuse Lewy Body disease (Parkinsonism, dementia and neuropsychiatry)
What is the significance of diagnosing Parkinson Plus syndrome?
Poorer prognosis
Poor response to L-dopa therapy
What are the features that suggest that patient may have Parkinson plus syndromes?
Early onset of dementia
Presence of hallucination or psychosis
Early onset of postural instability
Truncal symptoms more prominent than appendicular symptoms
Marked symmetry of signs early in the stage of the disease
Lack of response to levo-dopa therapy in the early stage of the disease
Presence of symptoms and signs suggestive of Parkinson-plus syndromes.
What are the stages of Parkinsons disease?
Staged via the Hohen and Yahr staging system comprising of 5 stages:
Stage 1 symptoms and signs unilateral and mild
Stage 2 Bilateral and minimal disability
Stage 3 Generalised dysfunction with sig bradykinesia and gait impairment
Stage 4 Rigid and bradykinesia, severe symptoms with limited walking
Stage 5 Completely invalid and requires nursing care
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RHEUMATO!
62. Rheumatoid Arthritis
Presentation
Sir, this patient has Rheumatoid arthritis affecting the hands as evidenced by
Presence of symmetrical deforming polyarthropathy
PIPJ/MCPJ
Swan neck, Boutonnieres, Z-thumb, ulna deviation
Subluxation (MCPJ, dorsal subluxation of the ulna at the carpal joint)
Active arthritis/quiescent
Intrinsic muscle wasting
CTS
Dropped fingers from tendon rupture
Synovial thickening
Vasculitic lesions, nail-fold infarcts
Palmar erythema
No nail changes and skin lesions of Psoriasis
SLE skin changes
Elbows for Rh nodules
Function
Preserved vs impaired
Coarse and fine functions
Treatment
Steroid atrophied skin, bruisability
Surgical intervention CTS decompression, tendon release
Requests
Other joint involvement (MTPJ, knees)
Extra articular features of RA
Questions
What are the extra-articular features of RA?
Eye
o Conjunctiva Keratoconjunctivitis sicca, pallor
o Sclera episcleritis, scleritis, scleromalacia perforans
o Lens Cataracts from chronic steroid usage
o Retina vasculitis, drug induced (Gold, Hydroxychloroquine)
o Extra-ocular muscles mononeuritis multiplex, myasthenia sec to penicillamine
Respiratory
o Upper airways Cricoarytenoid
o Pleura pleurisy, effusions
o Airway BOOP
o Parenchyma Pulmonary fibrosis, pneumonitis, PHT ( RA or MTX)
o Caplans, Nodules
Neurological
o Peripheral neuropathy
o Mononeuritis multiplex
o Nerve entrapment
o Cx atlanto-axial subluxation +/- Cx myelopathy
o Muscle atrophy, proximal myopathy sec to steroids, penicillamine induced myasthenia
Abdomen
o Splenomegaly in Feltys syndrome
What are the causes of anaemia in RA?
Fe deficiency GI bleed from NSAIDS
Megaloblastic anaemia Pernicious anaemia
Anaemia of Chronic disease
Hypersplenism from Feltys Syndrome
Aplasia Gold, Penicillamine
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Questions
What is gout?
Gout is a disorder of purine metabolism, resulting in hyperuricaemia either from overproduction(75%) or undersecretion of uric acid,
resulting in deposition of urate crystals in the joints or bursae.
Patients typically present with acute monoarthritis of the first MTPJ, with pain swelling and exquisite tenderness which peaks within
hours and lasts for days. It affects the joints of the lower limbs initially in the majority of patients which includes the MTPJ, ankles
and knees. It can also subsequently affects the joints of the upper limb.
What are the stages of gout?
Acute gouty arthritis
Intercritical period
Chronic tophaceous gout
What does tophi indicate?
Severe, recurrent and chronic gout.
Where are the commonly areas to look for gouty tophi?
Hands, extensor aspect of the forearms, olecranon bursae
Helix if the ears
Toes, Achilles tendons, infrapetaller regions
What are the clinical manifestations of gout?
Asymptomatic hyperuricaemia
Acute arthritis
Chronic, recurrent arthritis
Tophaceous gout
Uric acid nephrolithiasis
Uric acid nephropathy
What are the triggering factors of gout?
Alcohol ingestion
Foods sweetbreads, liver, kidneys and sardines
Drugs Thiazide diuretics, aspirin, cyclosporine, pyrazinamide and ethambutol
Dehydration and fasting
Surgery, Trauma
What are the causes of gout?
Primary associated with obesity, diabetes mellitus, hypertension and high TGs
Secondary
o Drugs
o Chronic ethanol ingestion
o Chronic renal failure
o Polycythaemia, lymphoproliferative, myeloproliferative
o Psoriasis
How would you investigate?
Definitive investigation would be aspiration of the involved joint, looking for
intracellular deposition of needle-shaped crystals that is negatively birefringent under polarised light, within leukocytes.
They react with nitric acid and NH4OH to give a purple color (Murexide test)
Blood Ix Uric acid levels which may be normal during an acute attack
X-ray of the joints may show erosive arthropathy from tophi with overhanging
edges associated with punctuate to diffuse calcification.
How would you manage?
Education and counselling, including dietary advice and avoidance of alcohol
PT/OT if tophaceous gout for preservation of function
Manage associated hypertension and diabetes mellitus
Medications acute attack and prophylaxis
Surgery rarely for cosmetic reasons, arthroplasty
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Joint function
1. Impaired or preserved
2. able to grip and do pincer movement
3. coarse function turn a doorknob
4. fine function cap a pen, transfer coins, unbutton clothes
5. able to abduct and internally rotate her shoulder joints which are important for her ADLS
Treatment complications Steroids for arthritis
Mention no evidence of Gout (as this is associated with Psoriasis)
Complete my examination by
examining for other joint involvement
Skin especially scalp, knees, natal cleft, intragluteal folds, submammary folds, Koebners phenomenon
Enquire on aggravating factors
Questions
What are the types of skin lesions?
Plague
Guttate (numerous small papular, hx of streptococcal infection
Pustular (localized or generalized, superficial pustules may stud the plagues)
Erythrodermic (generalized erythema and scaling which may be life threatening)
Inverse psoriasis (plagues evolving in the intertriginous area without typical silvery scales due to moisture and maceration)
Where are the typical sites of distribution?
Extensor surfaces of knees, elbows, scalp, navel, natal cleft, submammary and intragluteal folds
How do you assess severity?
Psoriasis Area and Severity Index area, thickness, redness and scaling
Total score 72 - <10, 10-50, >50 for mild, moderate and severe respectively
What are the types of joint involvement in psoriasis?
OA
RA
AS
Oligo/mono
Arthritis mutilans
Radiological features of psoriatic arthritis?
Periostitis fluffy
Destruction of small joints
Pencil in cup appearance
Non marginal syndesmophytes in AS type
What are the unique characteristics of psoriatic lesions?
Salmon pink hue with silvery scales
Koebners - New psoriatic skin lesions at site of cutaneous trauma
Moist red surface on removing of scales (Bulkeleys membrane)
Auspitzs sign capillary bleeding when silver scales are picked from the plague
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Questions
What are Herbedens nodes?
Bony swellings at the DIPJ in OA
What are Bouchards nodes?
Bony swelling at the PIPJ in OA
Why is there squaring of the hand?
This is due to subluxation of the first MC
What are the types of OA?
Primary generalized OA aka nodal OA
Middle-aged women, Autosomal dominant
OA of the DIPJ with Herbedens with marked deformity and preservation of fn
Also affects the carpometacarpal joint of the thumb, knees and hips
Secondary
Trauma
Inflammatory arthropathies RA, Septic arthritis, gout
Endocrine Acromegaly, hyperparathyroidism
Metabolic chondrocalcinosis, hemochromatosis
Neuropathic joints DM, Tabes, syringomyelia
How would you Ix?
Radiographical
Subchondral bone cysts and sclerosis
osteophytes
narrowed joint space
Varus/varus deformity
If a synovial aspirate is done to r/o other causes
<100wbc/ml
How would you manage?
Education and counseling
o Appropriate footware
o Weight management
PT/OT
Pharmocotherapy
o Glucosamine, chondroitin sulphate, glycosaminoglycans
o Drugs
Analgesia paracetamol, NSAIDs, Opiods
Tetracycline (inhibit enzyme that breaks down cartilage)
Diacerin (Anti IL-1)
Hydroxychloroquine
o Intra-articular steroids
o Visco-supplementation (hyaluronic intra-articular injection)
Surgery - Knee and hip replacement
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66. Scleroderma
Seated (hands on pillow if available)
This is a middle-aged lady has got scleroderma as evidenced by
Hands evidences of sclerodactyly and smooth/shiny/tight/taut shiny skin of the hands which extends proximal to the MCPJ
(double pinch test). There is also digital tip pitting, finger pulp atrophy and acroosteolysis. There is also presence of Raynauds
th
phenomenon, beaking of nails (pseudoclubbing), atrophic nails, nail fold telangiectasia (especially 4 digit via magnifying glass)
and vasculitic rashes at the finger tips. There is also calcinosis and subcutaneous calcification located fingers, elbows and extensor
aspect of the forearms. This is associated with wasting of the intrinsic muscles of the hands and vitiligo/hyperpigmentation (salt and
pepper appearance).
In terms of function, she is able to perform pincer movements and hand grip is good with a power of 5; however there is limitation of
finger extension with flexion contractures and she finds it difficult to unbutton/button of clothes as well as to perform turning door
knob manoeuvres.
There is no proximal myopathy (myositis)
There is also involvement of her face as evidenced by:
Face Bird like facies, smooth/shiny/tight/taut skin of her face with difficulty closing her eyes, blotchy telangiectasia, pinched
nose, microstomia, perioral tethering with pseudorhagades. I also noticed that the patient is cachexic looking; note pallor
Legs On examination of her legs, I also noticed presence of scleroderma as well as vasculitis, telangiectasia and ulcerations,
vitiligo.
Treatment complications - Steroids
I would like to complete the examination by taking the patients blood pressure, urine dipstick, cardiovascular examination,
respiratory examination and abdominal examination and ask her about dysphagia (examine stools for steatorrhea), Raynauds
phenomenon as well as dry eyes and mouth.
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Questions
What are the criteria for diagnosis of scleroderma?
Major: Proximal scleroderma (affecting MCPJ/MTPJ)
Minor: Sclerodactyly
Digital tip pitting/pulp atrophy
Bibasal pulmonary fibrosis
Require 1 major or 2 minor
What are the types of Scleroderma?
CREST (a/w anticentromere antibodies)
Limited cutaneous (extremities)
Diffuse cutaneous (involving of skin of trunk)
Scleroderma sine scleroderma (systemic complications without skin)
What are the phases of skin changes? Edematous phase... Dermal phase (induration)... Atrophic phase with contractures
What are the complications?
Lung
Pulmonary fibrosis
Reflux pneumonitis
Pleural effusion
Alveolar cell carcinoma
Cardiovascular
Primary Pulmonary Hypertension
Cor Pulmonale from Pulm fibrosis
Pericarditis, Pericardial effusion
Myocardial fibrosis
Abdomen
Esophageal dysmotility
Malabsorption with steatorrhea from dilated second part of
the duodenum resulting in bacterial overgrowth
Kidneys Renal failure (Malignant hypertensionresponsive to ACE -)
Primary Biliary Cirrhosis (Woman rare)
What are the possible etiologies for anaemia in a patient with scleroderma?
Anaemia of chronic disease
Fe deficiency anaemia from esophagitis
B12 and folate deficient anaemia from malabsorption
Microangiopathic hemolytic anaemia (MAHA)
Aplasia from medications such as MTX
What is Thibierge-Weissenbach syndrome?
Acrosclerosis associated with deposition of calcium in the subcut tissue
What is mixed connective disease?
2 or more - SLE, polymyositis, dermatomyositis, SSc
Antiribonuclear protein antibody (Speckled pattern)
Why must you avoid high dose corticosteroids? This may precipitate renal crisis.
How would you investigate?
ANA Speckled pattern
Anti-topoisomerase DNA 1 (Scl-70) for systemic sclerosis
Anti-centromere antibody (CREST)
Outline your management.
Education and support
PT/OT for hand function
Treat symptoms and complications
Raynauds avoid cold, calcium channel blockers, prostacyclin
Esophagitis PPIs
ACE inhibitors for hypertension
Bosentan (endothelial receptor antagonist for pulmonary hypertension)
Treatment of disease
Immunosuppressants Steroids, MTX, Aza, cyclophosphamide
Antifibrotic penicillamine, interferon
What is the Px?
Male (poor)
Renal involvement (poor)
70% for skin involvement only 10 yr survival
20% 10 yr survival if kidneys and lung involved
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3.
4.
5.
6.
What are the other types of conditions that can present with sacroilitis?
a. Psoriasis
b. Reiters (reactive arthritis)
i. Can be urogenital (Chlamydia) or gastrointestinal (Shigella, campylobacter, salmonella)
ii. Triad of urethritis, arthritis and conjunctivitis
iii. Cs have circinate balanitis (small shallow painless sores) and keratoderma blenorrhagica (small hard papules on
palms and soles)
c. Enteropathic arthritis (these are the seronegative spondyloarthropahy which are associated with HLA B27)
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7.
8.
9.
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157
Questions
What are the differential diagnoses for a patient who has a tall stature?
Marfans syndrome
Homocystinuria
Malar flush, mental retardation, inferomedial ectopia lentis
Hx of epilepsy, IHD(CABG scar), DVT, osteoporosis
Presence of homocystine in the urine via cyanide-nitroprusside test
Autosomal recessive inborn error of metabolism of amino acid with deficiency of cystathionine beta synthetase
MEN type 2b
Hyperpigmentation, mucosal neuromas(lips, tongue, palate, conjunctiva and cornea), proximal myopathy
MEN 1: Pituitary, parathyroid, pancreatic (PPP)
MEN 2a: Parathyroid, adrenals(phaechromocytoma), thyroid (MTC) (PAT)
MEN 2b: PAT and hyperpigmentation, mucosal neuromas, marfanoid
Klinefelters syndrome
Male patient, eunuchoid habitus (arm span> height, sole-pubis>pubis vertex, femenine fat distribution
Gynaecomastia, lack of beard and axillary hair, voice is not masculine, pea-sized testes (normal >3.5cm), varicose veins
Mentally subnormally, infertile
Rule out hypo-osmia for Kallmans syndrome (idiopathic hypogonadotrpic hypogonadism with hypo-osmia, cleft palate/lip,
congenital deafness or blindness which can be treated with gonadotropins and GnRH for fertility)
Raised FSH and estradiol with low testosterone and chromosomal analysis 47XXY(buccal smear for karyotyping)
Infertile as majority are 47XXY (80%) and others can be due to more than 2 X or > 1Y or mosaicism (can be fertile)
Most common cause of male hypogonadism, 1:500
Increased risk of DM, Br cancer and SLE
Increases with increasing maternal or paternal age
What is Marfans syndrome?
It is an inherited autosomal dominant connective tissue disorder
Affecting the skeletal system, cardiovascular system with ocular abnormalities
1 in 15 000
Male=Female
What is the mode of transmission of Marfans syndrome?
Autosomal dominant
Chromosome 15q21
Defects in fibrillin gene
How is Marfans syndrome diagnosed?
Based on the Ghent criteria which takes into account
o Family history
o Molecular studies
o 6 organ systems
Skeletal
Skin
Eye
CVS
Pulmonary
Dura (dura ectasia)
What are the ocular features of Marfans syndrome?
Small spherical lens
Cataracts
Lens subluxation
Glaucoma
Hypoplasia of dilator pupillae, therfore difficulty with pupillary dilatation
Flat cornea
Myopia
Retinal detachment
Increased axial length of the globe
How would you investigate?
Molecular studies
Annual echocardiography
Monitor aortic diameter (normal <40mm, composite graft required if >50mm)
MV function
Ophthalmic examination
How would you manage?
Education and psychological counselling
Annual cardio review
Beta-blockade (retards rate of aortic root dilatation)
Aortic root graft >50mm
IE prophylaxis
Eye review
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ENDOCRINE!
75. Acromegaly
Stem Statement
Please examine hands, face, look and proceed.
Patient has headaches, increased sweatiness
Approach
1. Hands
a. Palm downwards large, doughy, spade shaped, OA, double pinch test
b. Palm upwards sweatiness, CTS, wasting of thenar eminence, numbness
2. Elbows ulnar nerve thickening
3. Proximal myopathy
4. Face Transfrontal scar, prominent supraorbital ridges, greasy skin, broad nose, hirsute, thickened lips, macroglossia,
teeth indentation marks on the side of the tongue, prognathism, splaying of teeth, malocclusion of teeth
5. Neck Goitre
6. Lower limb bowed legs, OA, pitting edema from CCF/CCB, heelpad thickened
7. Request for patient to remove shirt to inspect the trunk and axillae
a. Skin tags
b. Coarse body hair
c. Acanthosis nigricans
d. Gynaecomastia, galactorrhoea
e. Kyphosis
8. Request
a. Visual fields bitemporal hemianopia, fundoscopy for angiod streaks
b. CVS cardiomegaly
c. Abdomen organomegaly, testicular atrophy, PR bleed for Ca colon
d. BP - Hypertension
e. Urine dipstick glycosuria
Presentation
Sir, this patient has acromegaly as evidenced by presence of coarse facial features with prominent supraorbital ridges, broad nose
and thick lips; a/w macroglossia with teeth indentation marks on the side of the tongue. There is also presence of splaying of the
teeth with malocclusion and prognathism. I did not notice any scars on the forehead to suggest previous Transfrontal surgery.
There is also no goitre
There is presence of a large, spade like doughy hands with no sweating detected. There is no wasting of the thenar eminence and
Tinels sign was negative. There are also no thickened ulna nerves at the elbows and no proximal myopathy. No features of OA of
the hands and no bowing of the tibia. No pedal edema but presence of thickened heelpads.
I would like to complete the examination by
1. Asking the patient to remove his shirt to look for Acanthosis nigricans, coarse body hair, skin tags, kyphosis and
gynaecomastia/galactorrhea
2. Visual fields for bitemporal hemianopia
3. CVS cardiomegaly
4. Abdomen exam for organomegaly
5. BP
6. Screen for DM
7. Ask for symptoms of headache, increase sweatiness and recent increase in shoe or glove size.
Questions
1. What is acromegaly?
a. Due to excess GH activity as a result of a pituitary macroadenoma occurring post puberty
2.
3.
4.
5.
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6.
7.
8.
9.
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165
Questions
What are the causes of Cushings syndrome?
Rule of 90:10
90% exogenous and 10% endogenous
of the 10% endogenous
90% ACTH dependent and 10% ACTH-independent (adrenal adenoma and carcinoma)
of the 90% ACTH dependent
90% are Pituitary(Cushings disease) and 10% are ectopic ACTH (bronchial carcinoid, small cell lung ca, pancreatic
carcinoma, non-teratomatous ovarian tumor)
of the Pituitary adenoma
90% are microadenoma
10% are macroadenoma
ACTH independent
Adrenal adenoma
Adrenal carcinoma
Micro/macronodular adrenal hyperplasia
Part of Carney complex (pigmented skin lesions with endocrine and mesenchytmal tumors)
McCune Albright syndrome
What are the causes of PseudoCushings?
DOA
Depressions, drugs
OCPs, obesity
Alcoholism, acute illness
What are purple striae?
Purple striae are due to the weakening and disruption of the collagen fibres of the dermis leading to exposure of the underlying vascular
tissue. They can be found on the abdomen, the upper arms and on the medial aspects of the thighs.
What are the signs suggesting ectopic ACTH secretion?
Absence of Cushingoid habitus, prominent edema and hypertension and marked muscle weakness.
What are the features that suggest adrenal carcinoma?
Virilisation in the female, gynaecomastia in a male and a palpable abdominal mass.
What is the significance of hyperpigmentation in a Cushingoid patient?
It implies that Cushings syndrome is due to ACTH excess due to presence of MSH like activity of the ACTH molecule.
What is Nelsons syndrome?
Nelson syndrome occurred formerly as a result of bilateral adrenalectomy for Cushings disease
Resulting in absent negative feedback of cortisol on the pituitary adenoma, with expansion of the pituitary adenoma with headache,
bitemporal hemianopia and panhypopit eventually
Occurs in 20% of such patients in the past
Hyperpigmentation occurs due to melanocyte stimulating component of the precursor molecule of ACTH.
How would you investigate this patient?
Screen with
24H urinary cortisol or
overnight dexamethasone suppression test
1mg between 11pm to 12 midnight
Serum Cortisol at 8 am the following morning (>2mcg/dl)
Confirm diagnosis with a low dose dexamethasone suppression test
Determine the cause with
Plasma ACTH
High dose dexamethasone suppression test
Imaging studies (MRI pituitary or CT adrenals)
Others
CXR if ectopic ACTH suspected
AXR for adrenal calcification
CRH test (distinguish ectopic CRH vs Cushings disease)
Inferior petrosal sinus sampling (distinguish primary and ectopic source of ACTH when above tests are inconclusive)
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167
77. Goitre
Examination
Look and proceed, Look at the eyes/face (Graves ophthalmopathy)
Examine hands (thyroid signs)
Examine lower limbs (pretibial myxoedema)
Examine her neck (start from neck)
Assess her thyroid status (start from peripheries)
General inspection thin, fidgety and may have choreoathetoid movements
ULs
o Both ULs up with dorsum facing upwards
Tremors
Acropachy (thyroid clubbing)
Onycholysis (Plummers nails especially ring finger)
Skin for vitiligo
o Both ULs with palm facing upwards
Sweaty palms
Palmar erythema
o Proximal weakness
o Pembertons sign
o Measure pulse for ST or AF
o Reflexes
Eyes
o Look
Chemosis, keratitis, prominent caruncle and tarsorrhaphy
Lid erythema and periorbital edema
Exomphthalmos and lid retraction (Dalrymples sign)
o Move
Lid lag (von Graefes sign)
Ophthalmoplegia
Order of muscles affected IM So Lazy
o Inferior, medial, superior and lateral recti
Neck
o Goitre swallow water
o Look for scar (think of hypothyroid and hypoparathyroid) and distended neck veins
o Walk to the patients back
Observe for proptosis
Palpate the goitre (soft, smooth vs nodular, large, tender)
Palpate for Cx LNs, carotid pulsations
o Listen for bruit
o Palpate for tracheal deviation and SCM weakness on MNGs
o Percussion of sternum
LL
o Pretibial myxedema
Complete examination
o Reflexes for hyperreflexia
o Cardiovascular examination
Wide pulse pressure (if clinically hyperthyroid) and systolic hypertension
ESM,CCF
Gynaecomastia
o If there is a scar, request to perform Trousseaus sign and Chvosteks sign for hypoparathyroidism, assessment
for hoarseness of voice
o Abdominal examination may reveal hepatosplenomegaly in Graves disease
168
Presentation
Graves disease
Sir, this patient has got Graves disease and is clinically hyperthyroid complicated by Graves ophthalmopathy.
There is presence of a diffusely enlarged, smooth and firm goitre which is associated with a bruit and is non-tender. There are no
palpable LNs and tracheal is central with no dullness to percussion of the sternum. Pembertons sign is negative.
There is evidence of hyperthyroidism. Patient is thin looking and is anxious and fidgety with presence of fine tremors of the
outstretched hands, sweaty palms, with palmar erythema and a resting sinus tachycardia. I did not notice any thyroid acropachy or
onycholysis. There is also no evidence of proximal upper limb weakness.
Examination of the eyes reveals presence of lid retraction with a staring appearance. There is no chemosis, keratitis or evidence of
tarsorraphy. There is evidence of exomphthalmos and proptosis. There is no ophthalmoplegia.
There is no evidence of pretibial myxedema.
Multinodular Goitre
Sir, this patient has MNG and is hyperthyroid complicated by atrial fibrillation.
There is presence of an enlarged goitre with multiple nodules bilaterally with a dominant nodule in the right lobe of the thyroid
gland. This is non tender. There is no associated Cx LN and the carotid artery is palpable.
There are no signs of compression such as stridor, negative Pembertons sign with no dullness to percussion of the sternum.
There are signs of hyperthyroidism.
The patient is in atrial fibrillation; did not notice any easy brusibility or obvious hemiplegia
Questions
What is Graves disease?
Autoimmune disease
TSI binds to and stimulates the TSH receptor on the thyroid cell membrane
Resulting in excessive synthesis and secretion of thyroid hormone
nd
th
2% in women and 0,2% in men; 2 to 4 decades
What are the clinical signs specific to Graves disease?
Graves ophthalmopathy
Pretibial myxedema
Thyroid acropachy
Diffuse goitre
Lymphoid hyperplasia
What is Graves Ophthalmopathy?
Characterised by
edema and inflammation of the extraocular muscles
increase in orbital connective tissue and fat
edema is due to hydrophilic action of the glycosaminoglycans secreted by fibroblast
inflammation is due to infiltration by lymphocytes and macrophages
Worst in
Smokers, elderly males
Post radio-iodine treatment
Severe hyperthyroidism
Can occur pre, during or post diagnosis of hyperthyroidism
How do you assess activity of the eye disease?
Retrobulbar pain
Pain on eye movement
Eyelid erythema
Conjunctival injection
Chemosis
Swelling of the caruncle
Eyelid edema
Points system together with degree of proptosis (Hertels ophthalmometer), reduced VA and eye movements
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Questions
What are the differential diagnoses for bowing of the tibia?
Pagets disease (Asymmetrical)
Rickets disease (bilateral symmetrical)
Congenital syphilis
Yaws
Periosteitis with apparent bowing
What is Pagets disease?
Metabolic disease characterised by excessive and abnormal remodelling of bone
Primary defect lies in increased osteoclastic activity with increased bone resorption and increased osteoblastic activity
There is excessive bone resorption with compensatory disorganised deposition of new bone
Males 2X more common and increases with age
Association with measles and paramyxovirus, cause is unknown
Stages
Lytic phase then
Mixed intermediate phase (lytic and blastic)
Sclerotic phase
What are the complications?
Bony and immobilisation
Pathological fractures
Sarcomatous change in 1%
OA
Protrusio acetabuli
Neurological
Obstructive hydrocephalus
CNs
Hearing loss
Conductive more commonly for otosclerosis of the ossicles
Sensori-neural hearing loss from auditory nerve compression
Optic atrophy
Spinal cord compression(basilar invagination) or nerve root compression
High-output cardiac failure
Metabolic
Gout hyperuricaemia from rapid bone resorption during prolonged immobilisation
Urolithiasis from hypercalciuria
Hypercalcaemia from immobilisation
How would you investigate?
Urinary hydroxyproline increased
Reflects increased osteoclastic activity and bone resorption
Fasting sample required
False positive if diet contains hydroxyproline, skin disease
Blood Ix
Serum Ca and PO4 normal but high in prolonged immobilisation or malignancy
Serum ALP high (increased osteoblastic activity)
Imaging
Skull - cotton wool appearance, osteoporosis circumscripta
Pelvis brim sign thickening of the iliopectineal line
Vertebrae picture frame sign with sclerotic margins
Long bones increased trabeculation and localised bone enlargement
Bone scan increased uptake reflects activity and useful for monitoring disease
How would you manage?
Education and counselling
Most are asymptomatic and do not require treatment
PT, OT and ST
Symptomatic
Painkillers
Treat disease
Indications
Bone pain, osteolytic lesions in weight bearing bones, delayed or non-union of fractures, neurological complications
(except hearing loss), cardiac complications
Bisphosphonates and salmon calcitonin
Treat complications
What are angiod streaks?
Linear disruptions of Bruchs membrane with proliferative connective tissue emerging through the defects.
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DERM!
82. Dermatology Overview
rd
Note: Number in brackets refer to the page numbers of 250 Cases In clinical Medicine by R.R Baliga, 3 Edition.
Generalised
Maculopapular rash (389)
Erythema multiforme (423)
Steven Johnson Syndrome (423)
Dy/Dx Staphylococcal Scalded Syndorme
Purpura (see notes)
Henoch Scholein Purpura (399)
Systemic Lupus Erythematous (417)
Bullous eruption (396)
Dermatitis herpetiformis (456) (dy/dx scabies)
Herpes zoster
Herpes labialis
Urticaria (496)
Vasculitis
Urticaria pigmentosa (500)
Eczema (475, 484)
Kaposi (460)
Mycosis fungoides (498)
Psoriasis (see notes)
Dy/dx (mycosis fungoides and Bazex syndrome)
Lichen Planus (see notes)
Purple hue dermatomyositis, sarcoid
Erythroderma (see notes)
Sezary syndrome (mycosis fungoides)
Multiple lumps
NF
Dercums disease
Multiple exostosis
Gardners syndrome
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Face
Alopecia (472)
Scarring (infective/Discoid lupus, Lichen planus)
Non-scarring (alopecia areata, totalis, universalis/telogen effluvium/male balding)
Acne (470)
Rosacea (454)
SLE (417)
Dermatomyositis (see notes)
Mitral stenosis
Seborrheic dermatitis (493)
Telengiectasia (403)
Sturge Weber (468)
Peutz Jeghers (463)
Hereditary Haemorrhagic Telengiectasia (403)
Shovlin Criteria (epistaxis, telangiectasia, visceral and AD)
Dy/dx (CLD, AI, rosacea, lupus pernio,radiation)
Lupus pernio (435)
Nose disfigurement
Lupus pernio
Lupus vulgaris
Leprosy
Rhinophyma
Xanthelesma (See Limbs)
Hirsutism (428)
Radiation marks (444)
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Limbs
Ulcers of Lower Limbs (477,478)
Pyoderma gangrenosum (466)
Loose skin
Pseudoxanthoma elasticum (451) (also has grouped papules)
Ehlers Danlos (508)
Hyperextensible Joints
Ehlers Danlos (508)
Marfan (see rheumatology)
MEN type 2B
Klinefelters
Ichthyosis (401)
Inherited or malignancy(Breast, haematological)
Raynauds phenomenon (415)
Phleblitis migrans (421)
Erythema ab igne and livedo reticulais (426)
Bad nails
Psoriasis
Lichen planus
Alopecia areata (472)
Fungal (482)
Lipoatrophy (433)
Xanthelasma (439)
Tendon xanthomaa (446)
Eruptive xanthoma (448) (dy/dx- pseudoxanthoma elasticum, molluscum contagiosum 494)
Palmar xanthoma (450)
Tuberous xanthomas
Shin lesions
Necrobiosis lipodica diabeticorum (442)
Pretibial myxedema (514)
Erythema nodosum (480)
DM dermopathy
Erythema ab igne
Livedoreticularis
Melanoma (490)
Hypopigmentation
Vitiligo (412)
Post inflammatory
Pityriasis alba
Tinea versicolor
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Joint function
6. Impaired or preserved
7. able to grip and do pincer movement
8. coarse function turn a doorknob
9. fine function cap a pen, transfer coins, unbutton clothes
10. able to abduct and internally rotate her shoulder joints which are important for her ADLS
Treatment complications Steroids for arthritis
Mention no evidence of Gout (as this is associated with Psoriasis)
Complete my examination by
examining for other joint involvement
Skin especially scalp, knees, natal cleft, intragluteal folds, submammary folds, Koebners phenomenon
Enquire on aggravating factors
Questions
What are the types of skin lesions?
Plague
Guttate (numerous small papular, hx of streptococcal infection
Pustular (localized or generalized, superficial pustules may stud the plagues)
Erythrodermic (generalized erythema and scaling which may be life threatening)
Inverse psoriasis (plagues evolving in the intertriginous area without typical silvery scales due to moisture and
maceration)
Where are the typical sites of distribution?
Extensor surfaces of knees, elbows, scalp, navel, natal cleft, submammary and intragluteal folds
How do you assess severity?
Psoriasis Area and Severity Index area, thickness, redness and scaling
Total score 72 - <10, 10-50, >50 for mild, moderate and severe respectively
What are the types of joint involvement in psoriasis?
OA
RA
AS
Oligo/mono
Arthritis mutilans
Radiological features of psoriatic arthritis?
Periostitis fluffy
Destruction of small joints
Pencil in cup appearance
Non marginal syndesmophytes in AS type
What are the unique characteristics of psoriatic lesions?
Salmon pink hue with silvery scales
Koebners - New psoriatic skin lesions at site of cutaneous trauma
Moist red surface on removing of scales (Bulkeleys membrane)
Auspitzs sign capillary bleeding when silver scales are picked from the plague
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Questions
What are the types of Lichen Planus?
Hypertrophic (plague-like lesions on the tibia; Afro-carribean)
Erosive (mouth ulcers with risk of SCC)
Bullous
Follicular
Guttate
How would you Ix?
Skin biopsy with IF
Dx is triad of
Typical skin lesions
T-cell infiltration of the dermis in a band pattern
IgG and C3 immunofluorescence at the basement membrane of the dermis
How would you manage?
Education
Px skin lesions are not premalignant; oral ulcers can progress to SCC
Most resolves within 6-18 months
Pharmological
Steroids topical, intralesional and systemic
Cyclosporin topical for mouth lesions, systemic
MMF
Retinoids
PUVA
What is Pterygium of the nails?
Cuticle invades the nail bed; Cs of Lichen planus
What are the differential diagnoses for white lesions of the mouth?
Lichen Planus
Candidiasis
Secondary syphilis
Leukoplakia
Squamous papilloma
What are the differential diagnoses of oral ulcers?
Erosive Lichen planus
Pemphigus vulgaris
SJS
Drug eruptions
Infective HSV
Inflammatory bowel disease
Aphthous ulcers
Behcets disease
What are the differential diagnoses for violaceous lesions?
Lichen planus
Sarcoid (lupus pernio)
Dermatomyositis
(eruptive xanthomas of the skin may mimic the polygonal lesions of LP)
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86. Purpura
(Approach: Establish purpura, rule out anaemia and neutropenia, establish cause)
Examination
Introduce, thank pt, ask for pain and request to undress, note any nasal speech (Wegeners)
General inspection
Age
Cushingoid
Renal failure, CLD
Extent ULs, LLs trunk
Examine individual lesions in the ULs or LLs
Palpable = vasculitis
Central hemorrhagic necrosis of HSP
Petechiae, ecchymosis
Cockscrew hair, perifollicular haemorrhages
Thin skin
Upper limbs
Hands
RA/SLE/Scleroderma
IE signs Oslers nodes, splinters, clubbing
Nails involvement
CLD stigmata
Elbows
RA nodules, thickened nerves (leprosy)
Face
Jaundice
Conjunctival pallor (haematological disease)
Malar rash
Mouth Ulcers, rashes, bleeding gums (scurvy for elderly patient)
Chest
CLD stigmata
Lower limbs
Arthritis of knees and ankles
Examine the feet
Requests
LNs
Abdominal examination hepatosplenomegaly
Peripheral neuropathy
Temperature chart
Urine dipstik hematuria in vascultis with renal involvement
Drug history
Presentation
Sir, this patient has
Purpura/palpable purpura as evidenced by non blanchable, well-demarcated reddish/purplish patches
Presence/absence of petechiae, ecchymosis
Distribution and extent
Anaemia and mouth ulcers (neutropenia)
Cause (purpura)
Age (Mention perifollicular haemorrhages and cockscrew hair if elderly)
Cushingoid
renal failure
Liver failure
Chest scars anticoagulation
Obvious haemarthrosis (haemophilia)
Ehlers Danlos
Cause (palpable purpura)
AI conditions
Infections
Malignancy
Drugs
Treatment (Cushingoid can be cause of purpura or treatment for vasculitic rash)
Complete examination for spleen, liver and LNs
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Questions
What are your differential diagnoses for purpura?
Thrombocytopenia
o ITP
o BM infiltration haematological malignancies
o BM aplasia
o CLD
Capillary fragility
o Senile purpura
o Chronic steroid ingestion
o Vasculitis eg HSP
o Renal failure
Coagulation factors (ecchymoses)
o Haemophilia
o Christmas disease
o Anticoagulation
o CLD
What are the causes of a palpable purpura/vasculitis rash?
Autoimmune
o SLE/RA/SSc
o Churg-Strauss/PAN/Wegeners
o PBC/UC/Cryoglobulinaemia
Mitotic
o Solid
o Haematological Lymphoproliferative, paraproteinaemia
Infective
o Viral HIV, Hep B, Hep C, EBV, influenzae
o Bacterial IE, TB, leprosy, Streptococcal
Drug
o Aspirin
o Antibiotics (penicillins, sulphonamide)
o Allopurinol
o Anticoagulant
o Phenytoin, Gold
Idiopathic
What are the common causes of purpura?
Senile purpura
Secondary to steroids and anticoagulants
Thrombocytopenia from leukaemia or marrow aplasia
How would you investigate this patient?
After taking a detailed drug history
Blood Ix FBC, biochemistry, liver function test, coagulation profile and protein electrophoresis (rule out paraproteinaemia),
ANAs, dsDNA, ANCAs
Skin Bx small vessel vasculitis
Others Bone marrow biopsy, trephine biopsy of the iliac crest
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87. Dermatomyositis
Examination
Examine this patients skin/face/hands
Look and proceed
This patient has dysphagia, please examine her
(Similar to sun-exposed rash)
Face
Helitrope rash
Neck and shoulder shawl sign
Weakness of neck flexion
Conjunctival pallor (associated with myeloproliferative or GI malignancies)
SLE or SScl for overlap syndrome
Hands
Grottrons sign
Vasculitis, capillary loops at the base of fingernails
Raynauds phenomenon
Calcinosis (usually in children)
SLE or SScl or RA for overlap syndrome
Upper limbs
Elbows for rashes
Tenderness of muscles
Test power, demonstrating proximal weakness
Loss of reflexes
Show no loss of sensory
Knees for rash
Request to screen for underlying mitotic lesions such as breast, respiratory and abdominal examination and screen for
interstitial fibrosis.
Presentation
Sir, this patient has got dermatomyositis.
There is the presence of heliotrope rash, which is a purplish-blue rash, around the eyelids and periorbital area and on the dorsum
of the hands. This erythematous rash is also present on the neck and the shoulders, ie in a shawl distribution as well as on the
sun-exposed areas. There is also involvement of the extensor surfaces of the elbow and knees. There is also periorbital edema.
Examination of the hands reveals also presence of Grottrons papules, which are flat-topped, violaceous papules over the dorsum
of the knuckles and interphalangeal joints. The erythematous rash spares the phalanges. There is presence of nailfold vasculitis
and telengiectasias. The cuticles are irregular, thickened and distorted. There is hyperkeratosis of the palms which resembles a
mechanics hands. I did not notice any Raynauds phenemenon. There is also no calcinosis.
There is tenderness of the muscles with proximal weakness. There is no sensory loss. There is also weakness of neck flexion.
I did not detect any clinical features of Systemic sclerosis or systemic lupus erytthromatosis or rheumatoid arthritis to suggest an
overlap syndrome. I would like to complete the examination by screening for any associated underlying mitotic lesion.
There are also no features of chronic steroid use.
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Questions
What is dermatomyositis?
It is an idiopathic inflammatory myopathy with characteristic cutaneous findings.
How do you diagnose DM/PM?
4 out of 5 criteria:
Progressive, proximal, symmetrical muscle weakness
Raised CK
Cs EMG findings
Cs findings on muscle Bx
Compatible dermatological findings
What are the types of dermatomyositis?
Dermatomyositis
Polymyositis
Amyopathic dermatomyositis (no muscle involvement, just skin features)
How do you classify?
5 Groups, Group 1 to 5 respectively
Idiopathic polymyositis
Idiopathic dermatomyositis
A/w neoplasia
Childhood a/w vasculitis
A/w collagen vascular disease
How would you investigate this patient?
Creatinine kinase levels raised and reflects disease activity
ANA levels, anti-Mi-2, anti-Jo1
EMG myopathic changes which are spontaneous fibrillations, salvos of repetitive potentials and short duration of polyphasic
potentials of low amplitudes
Muscle biopsy necrosis and phagocytosis of muscle fibres, with interstitial and perivascular infiltration of inflammatory cells.
Ba swallow for atonic dilated esophagus (if stem statement states patient has dysphagia)
Other Ix to rule out malignancy (breast, lungs and GIT, ovaries) and mixed CT disease
What is your differential diagnosis for myositis with raised CK levels?
Statin, chloroquine and colchicine
What are some disorders associated with myositis?
Drugs
Infectious Lymes disease, CMV
Eosinophilic myositis
Outline your management.
Educate and counselling
Treat underlying malignancy
General meausures
Skin sun avoidance and sunscreens
Muscle bedrest, PT and OT, ST and bed elevation if dysphagia
Medical treatment
Steroid treatment (prednisolone 1mg/kg/day)
IVIG, methotrexate or azathioprine
Calcium channel blockers eg diltiazem for calcinosis
What is the prognosis?
Depends on
Presence of underlying malignancy
Severity of myopathy
Presence of cardiopulmonary involvement
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EYE!
88. Diabetic Retinopathy
Presentations (Can still use the older classification)
Sir, this patient has:
(a)Type and location
1.
2.
3.
4.
Background diabetic retinopathy affecting the inferior/superior temporal/nasal quadrants of the retina (usually seen in the
posterior pole, ie area between the superior and inferior temporal quadrants) as evidenced by
a. Microaneurysms
b. Dot, blot or flame shaped haemorrhages
c. Hard exudates
Preproliferative diabetic retinopathy affecting the inferior/superior temporal/nasal quadrants of the retina
a. Cotton-wool spots
b. Venous dilatations, beading, looping or segmentation
Proliferative retinopathy diabetic retinopathy
a. Neovascularisation
i. At the disc
ii. Affecting the inferior/superior nasal/temporal quadrants of the retina
Diabetic maculopathy
a. Circinate formatiuon of hard exudates at or near the macula
b. Macular edema (cannot be seen by direct ophthalmoscopy)
Vitreous haemorrhages
Fibrosis with traction retinal detachment
Optic atrophy (for all)
Xanthelesma
Cataracts
Hypertensive changes
Robeosis irdis
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Questions
What are microaneurysms?
They are well-defined red dots seen in the superficial retinal layers which represents outpouching of the retinal capillaries;
earliest sign of diabetic retinopathy
Can also be seen in
o Hypertensive retinopathy
o Collagen vascular disease
o Severe anaemia
o Dysproteinaemia
What are flame-shaped haemorrhages?
Superficial bleed shaped by nerve fibres into a fan shape which points towards the disc
What are dot and blot haemorrhages?
Formed as a result of rupture of microaneurysms with bleeding into the deep layer of the retina
How do you differentiate between dot haemorrhages and microaneurysms?
This is difficult and differences includes:
Microaneurysms are well defined and last for months to years whereas dot haemorrhages tend to be have an
irregular outline and disappears within a few days
Fluoroscein angiography of which microaneurysms are hyperfluoroscent whereas dot haemorrhages are
hypofluoroscent
What are hard exudates?
These are minute, yellow, well defined deposits of lipo-protein and lipid-laden macrophages
What are cotton-wool spots?
Build up of axoplasmic material due to interrupted flow caused by ischaemia from capillary occlusion in the retinal nerve
fibre layer
What are IRMAs?
It stands for intraretinal microvascular abnormalities. They are remodelled capillary beds without proliferative changes and
are collateral vessels that do not leak on fluoroscein angiography. Usually found on the borders of non-perfused retina
What is neovascularisation?
Formation of abnormal new vessels on the retinal surface and at the optic disc as a result of ischaemia
These are fragile and tend to bleed into the vitreous leading to vitreous haemorrhages and fibrous tissue formation with
resultant traction retinal detachment
What is clinically significant macular edema?
Thickening of the retina at or within 500 microns of the centre of the macula
Areas of thickening 1 disc area or larger, any part of which is within 1 disc diameter of the centre of the macula
Hard exudates at or within 500 microns of the center of the macula, if associated with thickening of the adjacent retina
What is the pathogenesis of diabetic retinopathy?
Earliest stages are characterised by increased vascular permeability, leading to fluid accumulation in the retina (seen by
leakage of fluoroscein dye into the vitreous humor)
Later there is vascular closure causing retinal ischaemia leading to neovascularisation of the retina
These new vessels are prone to complications of vitreous haemorrhages, fibro-proliferative changes, retinal detachment
and neovascular glaucoma
How can diabetes mellitus affect the eye?
Eyelids xanthelasma (association)
Extraocular mononeuritis multiplex, diabetic third (spares the pupils and associated with headache; resolves within 3
months) or sixth nerve palsies
Anterior chamber neovascular/rubeotic glaucoma
Iris rubeosis irdis
Pupils Argyll Robertson pupil, RAPD
Lens cataracts(higher incidence and occurs at a younger age), refractor errors (occurs due to fluctuation in the blood
sugar level especially when starting treatment; it is a benign condition)
Vitreous body - haemorrhages
Retina DM eye changes, hypertensive, CRAO, lipaemia retinalis
Optic nerve optic atrophy, ischaemic papillitis
Orbit mucormycosis
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Questions
How do you grade hypertensive retinopathy?
Keith Wagner Classification
Grade 1 Arteriolar narrowing, tortousity, irregular calibre with copper/silver wiring
Grade 2 Arteriovenous nipping
Grade 3 flame-shaped and blot haemorrhages, cotton wool spots and hard exudates
Grade 4 Papilloedema
Clinical features and prognosis of grade 3 and 4 are the same
Explain their physical appearance?
Young patients, retinal arterioles react to hypertension via constriction, hence arteriolar constriction or narrowing
In older patients, there is arteriosclerosis hence irregular calibre. Also the thickened walls shows a widening of the normal light
reflex, giving the blood column a copper appearance (copper wiring) or silver appearance (silver wiring)
At arteriovenous crossing, the thickened arteriolar walls displace and constricts the veins, resulting in AV nipping
The arteriolar may be damaged by necrosis leading to flame shaped haemorrhages, cotton wool spots caused by
microinfarcts, as well as retinal edema
Chronic retinal edema at the macula results in hard exudates radiating from the macular, ie macular star
Finally papilloedema results
How do patients normally present?
Normal vision
Except when there is associated macular involvement
What are the causes for retinal haemorrhages?
Diabetic retinopathy
Hypertensive retinopathy
CRVO
Severe anaemia, leukaemia
What are the causes for cotton wool spots?
DM preproliferative retinopathy
Hypertensive retinopathy
Anaemias, leukaemias
HIV, infective endocarditis
What are the causes for hard exudates?
Diabetic retinopathy
Hypertensive retinopathy
What are the causes of hypertension?
90% are essential hypertension
10% are secondary
o Renal causes Chronic renal disease, polycystic kidneys, renal artery stenosis
o Endocrine Cushings, Acromegaly, Phaechromocytoma, Conns, hyperparathyroidism
o Others Coaractation, OCP usage, pre-eclampsia, polycythaemia
How would you investigate a patient with hypertension?
Urea and electrolytes
Urine for protein, glucose and cast
Fasting lipids and glucose
ECG, CXR
If indicated clinically, ie
Young hypertensive <50
Requiring >2 antihypertensive
Sudden deterioration in control of BP
Features suggestive of secondary causes on clinical examination
How would you manage?
Lifestyle- Exercise, eat healthily, stop smoking
Pharmocotherapy
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Questions
What are your differential diagnoses?
Unilateral
o Demyelinating disease
o Compression (Tumor, aneurysm, Pagets)
o Glaucoma
o Ischaemic
Thromboembolic
Vasculitis temporal arteritis, tertiary syphilis
Bilateral
o Toxic
Nicotine, alcohol
Drugs (ethambutol, chloroquine, methanol, Pb, Arsenic)
o Metabolic
B12 deficiency, B1 and B6
Diabetes mellitus
o Hereditary
FA
Lebers (mitochondrial dz with pt mutations)
DIDMOAD (DI, DM, Optic atrophy, Deafness) rare recessive
o Others
sec to papilloedema
sec to retinitis pigmentosa
How do patients present?
o Reduction in visual acuity
What would you find on visual filed testing?
o Central scotoma
What is Lebers optic atrophy or Lebers hereditary optic neuropathy (LHON)?
o Hereditary condition affecting males
o Progressive visual loss
o Onset form second decade onwards
o Mitochondrial disease with point mutations
What investigations would you do?
o Electroretinography and pattern evoked visual response
o Blood test
Blood glucose
ESR
VDRL
B12 levels
o Imaging
SXR enlarged sella turcica pit tumor
CT scan SOL
MRI demyelinating disease
o (History for toxic and hereditary causes)
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91. Papilloedema
Examination
On noticing papilloedema
Attempt to identify the different stages of papilloedema present
Increase in venous calibre and tortusity
Optic cup pinker with disappearance of vessels over the disc
Disc is suffused and slightly elevated with blurring of margins; optic cup is filled and presence of haemorrhages around the
disc
Look at the retina
Features of hypertension (flame-shaped haemorrhages, cotton wool spots and hard exudates)
Features of CRVO (heamorrhages)
Severe anaemia (haemorrhages)
Check for
Pallor (severe anaemia)
Obvious proptosis
Graves ophthalmopathy
Cavernous sinus thrombosis
Spectacles (for hypermetropia)
Requests to examine the other eye if told to examine one eye only (bilateral papilloedema vs Foster-Kennedy syndrome)
Requests
VA
Visual fields
Color testing
Pupillary reflex (may not be possible if dilated)
Eye movements
Pain on eye movements
VI nerve palsy
Palpate the temporal region if elderly for tenderness (temporal arteritis)
Blood pressure
Presentation
Sir, this patient has papilloedema affecting his right eye as evidenced by a suffused and slightly elevated optic disc associated with
blurring of the disc margins with filling in of the optic cup and dilated tortuos veins.
There was no evidenced of hypertensive retinopathy such as silverwiring of the blood vessels, arterio-venous nipping, flamedshaped haemorrhages or exudates. I could not detect any haemorrhages on the retina to suggest severe aneamia or CRVO.
I noticed that there was no conjunctival pallor and no obvious proptosis of the eye.
I would like to complete my examination by examining the other eye for features of papilloedema or optic atrophy; checking his
blood pressure; testing his VA and VF and asking him about color vision loss; eye movements for VI nerve palsy and pain on eye
movement as well as RAPD.
Questions
What are the differential diagnoses of optic nerve swelling?
Papilloedema
Papillitis
Ischaemic optic neuropathy
Pseudopapilloedema
Hypermetropia (margins is blurred)
Drusen (yellowish-white deposits at the optic disc)
Myelinated nerve fibres
Bergmeisters papilla (whitish elevation of the center of disc; common, seen in all ages, races and equal sex distribution)
How do you differentiate beteween papilloedema and pseudopilloedema?
Fundal fluroscein angiography
What are the differences between papilloedema and papillitis?
Papilloedema
Papillitis
VA
Preserved
Reduced
VF
Enlargement of blind spot; loss of
Central scotoma
peripheral vision
Color testing
Normal
Loss of red
Pupillary reflex
Not affected
RAPD
Eye movements
No pain on movements
Pain on movement
Others
Bilateral
Unilateral
Absent of venous pulsation
Venous pulsations present
*Retrobulbar neuritis presents exactly like papillitis without the optic nerve head swelling appearance
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Presentation
Sir this patient has
A left/right
o Eye blindness
Unable to perceive light
o Scotoma
o Constricted visual field defect
o Upper/lower, temporal/nasal field
Bitemporal hemianopia
o Mention any acromegalic features
o Request to screen for hypopituitarism
o Causes includes (see above)
o Investigate
Lateral SXR enlarged sella turcica, calcification for cranipharingioma
CT or MRI head
Formal field perimetry
Serum prolactin
Left/right, upper/lower homonymous quandrantonopia
Left or right homonymous hemianopia, incongruous or congruous, macula sparing
o Mention obvious signs
Hemiparesis
Dysphasia (for right homonymous hemianopia)
Visual inattention
o Request for neurological examination for CVA and tumor
o Look for
CVA risk factors DM dermopathy, xanthelasma, AF
Tumor
Cachexia, clubbing for metastatic disease
o Ix
CT head
Formal field testing, perimetry
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2.
3.
2 mins Wrap Up
a. Any other significant things you would want to bring up
b. Summarise
c. Assure
d. Management plan
i. Investigations
ii. Symptomatic treatment
iii. Letter to employer
iv. Arrange next consult with family and significant others
v. Discuss the case with the consultant
4.
5.
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