Cardiology

1.Aortic Stenosis

I would like to complete my examination by:

• Taking Detailed History
• Check the Observation chart and recent ECG
• Do the Fundoscopy and Urine Analysis

I have examined this Gentleman/Lady, His/Her:

Pulse is:
• Between 70-80 / min
• Regular
• Low volume
• Slow rising

JVP is Not Raised

There is No Scar mark in the chest

Apex beat is Un-displaced and normal in Character (Pressure Loaded)

On auscultation
1st Heart sound is normal and
the 2nd heart sound is soft (May be Normal)
There is a Harsh Ejection Systolic murmur heard throughout the Precordium
but best audible in the aortic area that becomes Louder in expiration
and radiates to the carotids.

• However there are no peripheral stigmata of infective endocarditis

• Lungs are clear to auscultation
• No peripheral edema and
• Anemia

So Based on this, my most likely diagnosis is Aortic Stenosis

D/D:
1. Aortic Sclerosis There may be an ejection systolic murmur but No Peripheral Features until quite
advance then it may act like Aortic Stenosis
2. Pulmonary Stenosis
 3. HOCM Murmur of HOCM increases with decreased Left ventricular filling like standing but
murmur of aortic stenosis decreases on standing

Causes (ABC-R)
1. Aging
2. Bicuspid aortic valve
3. Congenital
4. Rheumatic fever
Complications of Aortic Stenosis:
1. Hemolytic anemia
2. Infective Endocarditis
3. Embolic disease from Infective endocarditis and disintegrating calcified valve
4. Heart block from calcification of AV conduction pathway
5. Heart failure
6. Sudden death

Severity Criteria for Aortic Stenosis

1.Clinical
▪ Pulse Low volume and Slow rising
▪ Narrow pulse pressure
▪ Palpation Heaving apex beat and Systolic thrill
▪ Heart sounds Soft or absent A2 and 4th heart sound
▪ Lungs Pulmonary HTN and Pulmonary congestion (Cardiac failure)
▪ Late peaking of long duration murmur
▪ Reverse spilt
2.Valve Area on Echocardiography
▪ Normal 3-4 cm2
▪ Mild AS > 1.5 cm2
▪ Moderate AS 1.0—1.5 cm2
▪ Severe AS < 1.0 cm2
▪ Pressure gradient > 50 mmHg

Prognosis in AS by differing presenting complaint

Symptom ​Median survival time

Chest pain ​5 years
Breathlessness ​2 years
Syncope ​18 months
Investigations:
1. ECG to look for:
• Left ventricular hypertrophy (voltage criteria)
• Left ventricular strain pattern
• Left ventricular axis deviation

2: X-ray chest to look for:

• Calcification of the aortic valve
• Cardiomegaly
• Prominent Pulmonary vasculature due to Pulmonary HTN(If present)
• Pulmonary congestion Other investigations (For all)

• FBC to look for anemia

3: Echocardiogram to look for: • Blood cultures for IE
• Left ventricular size and function • LFTs to look for coagulation profile
with INR
• Aortic valve area • Urine dipstick for hematuria

4:Coronary angiography to check for:

• Coronary artery disease and subsequent plan for CABAG

Management of Aortic Stenosis

1. General measures:
• Patient’s Education and explanation of the condition
• Regular follow ups to assess for progression if asymptomatic

2. Specific Measure:

Medical Treatment: Includes treatment of complications like Pulmonary Edema

Surgical Treatment:
If Symptomatic then Valve Replacement ± CABAG
Transcatheter Aortic Valve Implantation if high risk patient (TAVI)

Consider operating if mean gradient > 40mmHg and any of:

▪ LV systolic dysfunction i.e. ejection fraction (EF) < 45 %
▪ Abnormal response to exercise (decreased BP)
▪ Ventricular tachycardia
▪ LVH > 15mm
▪ Valve area <0.6cm 2
 ▪ Candidate for CABAG

Then Valve replacement ± CABAG

​2. Aortic Regurgitation (AR)

I would like to complete my examination by:

• Taking Detailed History
• Check the Observation Chart and Recent ECG
• Do the Fundoscopy and Urine Analysis

I have Examined this Gentleman/Lady, His/Her:

Pulse is:
• Between 70-80/min
• Regular
• Good volume
• Collapsing in character

There are Prominent arterial pulsations and JVP is not raised

Apex beat is Displaced and Thrusting in character
On auscultation
1st Heart sound is normal and the 2nd heart sound is soft (May be Normal)
There is an early diastolic murmur at the left sternal edge that becomes louder with the patient sitting
forward and with expiration
However:
• He does not have peripheral stigmata of infective endocarditis
• Lungs are clear to auscultation
• He does not have peripheral edema and Anemia

So based on this, my most likely diagnosis is Aortic regurgitation (AR)

Differential Diagnosis:
1. Pulmonary regurgitation
2. Austin Flint murmur of sever aortic Regurgitation

Causes:
1. Acute aortic Regurgitation:
 • Aortic dissection
• Infective endocarditis
• Prosthetic valve failure

2. Chronic aortic Regurgitation

• Hypertension
• Bicuspid aortic valve
• Rheumatic fever
• Aortitis e.g

a) Ankylosing spondylitis
b) Syphilis

c) Takayasu arteritis
• Connective tissue disorder (RA ,SLE etc)
• Others e.g
a) Marfan’s syndrome
b) Pseudoxanthma Elasticum
c) Ehler-Danlos syndrome

Severity criteria for Aortic Regurgitation (Clinical)

• Wide pulse pressure
• Third heart sound
• Increased length of diastolic murmur
• Austin flint murmur
• Pulmonary HTN
• Pulmonary congestion

Investigations
ECG
Usually nonspecific may show voltage criteria of left ventricular hypertrophy

CXR To check for:

• Cardiomegaly
• Clacification of aortic valve
• Pulmonary vasculature
• Pulmonary congestion

Echocardiography To look for:

• Valve morphology
• Aortic root size and dilatation
 • Severity
• Left ventricular size and function

CT/MRI to look for:

• Aortic root and ascending aorta
Coronary Angiography To Look for:
• Co-existent coronary artery stenosis to make management plan better (CABAG)

Management:
1. General Measures
• Patient Education
• Regular follow ups if asymptomatic

2. Specific measures:
Medical:
• Hypertension or sever regurgitation with LV dilatation then ACE inhibitors or ARB
Surgical
• Valve replacement if Symptomatic and

• Pulse pressure > 100 mm Hg

• ECG Changes, LV enlargement on CXR
• EF < 50 % on Echocardiography
• Ideally replace the valve before significant left ventricular dilatation and dysfunction.
• Significant aortic root dilatation (maximal root diameter > 45mm in Marfan’s, > 50mm with
bicuspid valve or > 55mm otherwise)
• Those undergoing any other cardiac surgery

NB: Common sign:

⇨ Collapsing pulse ( E Introduction, p.221 for notes on detecting this).
⇨ Wide pulse pressure.
⇨ Cardiac dilatation.
⇨ Early diastolic murmur, usually maximal at lower left sternal edge, but may be best heard in the
aortic area, particularly if the aorta is significantly dilated for any reason.
⇨ Corrigan’s pulse.
Uncommon:
▪ De Musset’s sign – bobbing of the head with each pulse.
▪ Durozier’s sign – murmur heard over femoral arteries when the stethoscope is pressed over the
vessel.
▪ Quincke’s sign – visible pulsing of the capillary fi lling of the nail bed.
Mixed aortic Valve disease
Stenosis predominant AR predominant

Pulse Low volume, High volume

Character slow rising Collapsing
Apex Undisplaced Displaced
Pulse Pressure(May Ask) Low Wide

​3.Mitral Stenosis

I would like to complete my examination by:

• Taking Detailed History
• Check the Observation Chart and
• Do the Fundoscopy and Urine Analysis

I have Examined this Gentleman/Lady, His/Her:

Pulse is Irregular and of variable volume (Low volume if Regular)

JVP is Not raised
There are No Scar marks in the chest
(There may be Left Thoracotomy scar from previous Valvuloplasty)

Apex beat is Un-displaced and Tapping in character

On auscultation
1st Heart sound is Loud and the 2nd heart sound is normal
(Pulmonary component of the 2nd heart sound may be loud)
There is a mid diastolic rumbling murmur at the apex, heard best in expiration with the patient in Left
Lateral position.

However there are

• No peripheral stigmata of infective endocarditis
• Lungs are clear to auscultation
• No peripheral edema and
• Anemia

So based on this, my most likely diagnosis is Mitral Stenosis

D/D:
1. Austin Flint murmur of sever AR
2. Left atrial Myxoma or Thrombus

Causes
• Rheumatic Fever (>90 % of cases).
• Congenital MS
• RA
• SLE
• Carcinoid syndrome

Investigations:
ECG to look for:
• Left atrial hypertrophy
• Left atrial dilatation
• AF

CXR to look for:

• Double right heart border
• Prominent pulmonary vasculature
• Pulmonary congestion

TTE /TOE to look for:

• Valve area
• Cusps mobility and calcifications
• Left atrial thrombus

Coronary Angiography to look for:

• Coronary artery stenosis

Severity criteria for mitral stenosis (Clinical)

• Breathless at rest
• Low pulse pressure
• Early opening snap, A short gap between S2 and the opening snap. This is because the LA
pressure is very high in severe MS and therefore LA pressure exceeds ventricular pressure earlier,
so opening the valve earlier. (opening snap comes to s2)
• Long duration of murmur
• Signs of Pulmonary HTN
• Signs of Pulmonary congestion and right heart failure.
•The presence of AF
.
Treatment:
General measures
• Patient education and explanation of the condition, vaccination, Rest.
• Endocarditis prophylaxis
• Regular follow ups with echocardiography

Medical
• Asymptomatic – IE prophylaxis and follow up
• AF: Rate control or rhythm control strategy e.g. B- blockers, Digoxin
• Symptomatic – Heart failure/ atrial fibrillation and Pulmonary hypertension
• Others include warfarin (According to NICE guidelines)
• and diuretics

Mitral Valvuloplasty if following features:

• Mobile valve
• Absent MR
• Absent thrombus

Surgery
Surgical indication : BMV/ CMC/ MVR
• Open commissurotomy (When anatomy is not suitable for closed balloon valvulopasty)
• Valve Replacement

Indications for surgery:

• Pulmonary HTN
• Pulmonary Congestion
• Hemoptysis
• Recurrent thromboembolism despite warfarin (anticoagulation)
• Hemoptysis
• Hoarseness of voice ( Ortner’s syndrome)

What are the indications for anticoagulation?

Those in AF (paroxysmal or sustained) should be on warfarin as the risk of thromboembolism is high and
> 3-fold higher than in non-rheumatic AF.
Warfarin should be considered in those with LA > 55mm even if in sinus rhythm.

How do you manage MS presenting in pregnancy?

▪ Symptomatic patients with severe MS should be advised against pregnancy without prior treatment.
 ▪ Asymptomatic patients often present in the mid-trimester with symptoms as a result of the increased
heart rate and intravascular volume associated with pregnancy.
▪ Patients with severe MS and NYHA III/IV symptoms that develop during pregnancy should be
treated with PBMV with TOE guidance to minimize radiation exposure.

Echo criteria
Grade MVA Gradient

Mild >1.5 cm2 <5 mm Hg

Moderate 1-1.5 cm2 5-10 mm Hg

Severe <1 cm2 >10 mm Hg

​4.Mitral Regurgitation (MR)

I would like to complete my examination by:
• Taking Detailed History
• Check the Observation Chart and Recent ECG
• Do the Fundoscopy and Urine Analysis

I have Examined this Gentleman/Lady, His/Her:

Pulse is Regular (or irregular) and Good volume
JVP is Not raised (May be raised)
There are No scar marks in the chest

Apex beat is Displaced (May be un-displaced) and Thrusting in character

On auscultation
1st Heart sound is Soft and 2nd Heart sound is normal
(Pulmonary component of the 2nd Heart sound may be Loud as well)
There is a pan-systolic murmur at the apex which becomes louder in expiration and radiates to the axilla

However, he does not have:

• Peripheral stigmata of infective endocarditis
• Lungs are clear to auscultation
• He does not have peripheral edema and
• Anemia
So based on this, my most likely diagnosis is Mitral regurgitation

Differential diagnosis:
• Ventricular Septal Defect (VSD)
 • Tricuspid Regurgitation (TR)
• Mitral valve prolapse
• Aortic stenosis

Causes
1.Acute Mitral Regurgitation:
• Infective endocarditis
• Trauma
• Rupture of chordae Tendinae

2.Chronic Mitral Regurgitation

• Rheumatic fever
• Mitral valve prolapse
• Infective endocarditis
• RA
• SLE
• Marfan’s syndrome
• Ehler-Danlos syndrome
• Pseudoxanthoma Elasticum

Clinical Severity Criteria:

• Soft S1
• 3rd and 4th heart sounds
• Displaced apex beat
• Pulmonary HTN
• Pulmonary congestion

Investigation:
ECG to check for:
• Atrial fibrillation (AF)
• Left atrial hypertrophy
• Left atrial dilatation
CXR To check for
• Double right heart border
• Cardiomegaly
• Pulmonary vasculature
• Pulmonary congestion
Echocardiography to look for
• Anatomy of mitral valve
• Severity of MR
 • Left ventricular systolic function etc
TOE
(to definitively assess severity, define mechanism of MR, feasibility of repair and exclude/diagnose
endocarditis) and where available, 3D-TOE.

Coronary angiography to look for: Coronary artery disease

Treatment:
General measures
• Patient education and explanation
• Antibiotics for endocarditis prophylaxis
• Annual echocardiography for assessment of progression

Medical treatment
• Management of AF with Rate control and anticoagulants like Warfarin
• Management of heart failure when required

Surgical treatment
• Valve replacement
• Patient who have symptoms despite optimum medical therapy
• Left ventricular ejection fraction < 60 %
• Left ventricular end systolic diameter > 45 mm

Mixed Mitral Disease

Stenosis predominant MR predominant

Pulse Low volume, High volume

Apex Undisplaced Displaced

S1 Loud Soft

Pulse Pressure(May Ask) Low Wide

Prosthetic Mitral valve

Must comment on Pallor, Valve function, Over anticoagulation, IE status

Complication of valve
• Operative mortality 3-5%
• Late complication
▪ Thromboembolism 1-2% per year despite warfarin
 ▪ Bleeding Fatal 0.6%, major 3%, minor 7% per anum on warfarin
▪ Valve obstruction from thrombosis
▪ Dehicence of valve
▪ BIoprosthetic dysfunction and LVF - usually within 10 yr
▪ Hemolysis- mechanical in metal valve
▪ Infective endocarditis-
⇨ • Early – Staph epidermiditis from skin
⇨ • Late-Sterpto Viridans hematogenous spread
⇨ • A second valve replacement needed to treat
⇨ • Mortality of IE in prosthetic valve approx 60%
⇨ • A fib for MVR
​5. Ventricular Septal Defect (VSD)

I would like to complete my examination by:

• Taking Detailed History
• Check the Observation Chart and Recent ECG
• Do the Fundoscopy and Urine Analysis

I have Examined this Gentleman/Lady, His/Her:

Pulse is Regular and of Normal volume and character
JVP is Not raised
There are No Scar marks in the chest

Apex beat is Un-displaced and Normal in character (If there is a Small defect)

On auscultaton
1st Heart sound is normal (2nd may be obscured)
There is a Loud Pan-systolic murmur which is heard throughout the precordium but loudest at the left
lower sternal edge.

However he does not have

• Peripheral stigmata of infective endocarditis
• Lungs are clear to auscultation
• He does not have edema or Anemia

So based on this, most likely diagnosis is VSD

Note:
 If large defect and significant Left to Right shunting:
• Pulmonary HTN develops and it leads to a Loud P2 and the Pan-systolic murmur of VSD will
become quieter.
• As pulmonary HTN increases there may be reversal of shunt from Right to Left and the
development of Eisenmenger’s Syndrome. In this situation,ventricular pressures will equalize and
there will be a single Loud 2nd Heart sound and the VSD related murmur will disappear.

DD:
1. Mitral Regurgitation
2. Tricuspid Regurgitaion
3. Aortic Stenosis

Investigation:
ECG
Small defects → No Changes
Large Defects
• Left ventricular hypertrophy
• Right ventricular hypertrophy
• Left atrial hypertrophy (Bifid p wave in lead II)
• Left atrial enlargement (Biphasic p-wave in V1)

CXR In case of large defects to look for:

• Cardiomegaly
• Prominence of pulmonary vasculature
• Pulmonary congestion

Echocardiography to look for:

• Location, size and direction of shunt
• Left and right ventricular size and function

Cardiac Cathetrization to check for:

• Severity and reversibility of pulmonary HTN

Treatment
Small defect with normal pulmonary artery pressure
• Reassurance
• Endocarditis prophylaxis
Large defect with pulmonary HTN /Right or Left heart failure
• Endocarditis Prophylaxis
• Diuretics
• Treatment of pulmonary HTN
• VSD closure if no contraindication

​6.Mitral Valve Replacement

I would like to complete my examination by:

• Taking Detailed History
• Check the Observation Chart and Recent ECG
• Do the Fundoscopy and Urine Analysis

I have Examined this Gentleman/Lady, His/Her:

Pulse is Normal and of Good volume (May be Irregularly irregular)
JVP is not raised

There is a midline sternotomy Scar in the chest and 2 more scars in the upper chest

Apex beat is un-displaced and Normal in character

There is a Prosthetic click that coincides with 1st Heart sound

2nd Heart sound is normal

However he (She) does not have:

• Peripheral features of infective endocarditis
• Lungs are clear to auscultation bilaterally
• He (She) does not have Anemia, Peripheral edema or Bruising (No sign of over anti-coagulation)

So based on this my most likely diagnosis for this gentleman (Lady) is Mitral valve replacement
which is functioning very well

​7. Aortic Valve Replacement

I would like to complete my examination by:

• Taking Detailed History
 • Check the Observation Chart and

• Do the Fundoscopy and Urine Analysis

I have Examined this Gentleman/Lady, His/Her:

Pulse is regular and of good volume
JVP is not raised

There is a mid-line sternotomy Scar in the chest and two more scars in the upper abdomen

Apex beat is un-displaced and normal in character

1st Heart sound is normal

but there is a prosthetic click that coincides with the 2nd heart sound

However he (She) does not have

• Peripheral features of infective endocarditis
• Lungs are clear to auscultation bilaterally
• He (She) does not have anemia, peripheral edema or any Bruising

So based on this, my most likely diagnosis for this gentleman (Lady) is Aortic valve replacement
which is functioning very well

Must mention if any

• ESM → flow murmur

• Diastolic murmur → valvular dysfunction
• Anemia → blood loss due to anti coagulation, hemolysis, IE

Prosthesis function normal or not?

• Diastolic murmur is due to malfunctioning Aortic prosthesis
• Decreased intensity of closing click ( clot or vegetation)
Bioprosthetic
• Age >70 yrs
• Anticoagulation contraindicated
• Life expectancy shorter than life expectancy of valve
• Advantage: No need for warfarin, Safe in Child bearing age and elderly
• Disadvantage: Short life of prosthesis, due degeneration and calcification

Complication
• IE
• Thromboembolism
• Hemolysis
• Valve dysfunction Heart failure
• Over/under anti coagulation
​8. Dual Valves Replacement

I would like to complete my examination by:

• Taking Detailed History
• Check the Observation Chart and Recent ECG
• Do the Fundoscopy and Urine Analysis

I have Examined this Gentleman/Lady, His/Her:

Pulse is regular and of good volume
JVP is not raised

There is a midline sternotomy Scar in the chest and two more scars in the upper abdomen

Apex beat is un-displaced and normal in character

There are prosthetic clicks which coincide with 1st and 2nd Heart sounds

However he (She) does not have:

• Peripheral features of Infective endocarditis
• Lungs are clear to auscultation bilaterally
• He (She) does not have anemia, peripheral edema or any Bruising

So based on this my most likely diagnosis for this gentleman (Lady) is Dual Valves Replacement
which are functioning very well.
TOE:
This is indicated where endocarditis is suspected as well as to evaluate dysfunction of a prosthesis,
especially a mitral mechanical valve. Acoustic shadowing created by the valve may render even
substantial paravalvular leaks practically invisible on transthoracic views.

Table: Duke criteria for the diagnosis of infective endocarditis

Major criteria
1. Positive blood culture: should either be 2 separate cultures with a typical microorganism ( Strep.
viridans , Strep. bovis or a HACEK a organism, or community acquired Staph. Aureus or
Enterococcus without an obvious focus)
Or microorganism consistent with IE with persistently positive blood cultures (2 samples > 12
hours apart or all of 3 or majority of 4 separate cultures, the fi rst and last being at least 1 hour
apart)
2. Evidence of endocardial involvement: either vegetation (must be independently mobile mass on
echo), or an intracardiac abscess or new dehiscence of a prosthetic valve or new valvular
regurgitation
Minor criteria
1. Serological evidence of active infection with an organism consistent with IE
Or
positive blood culture not reaching major criterion
2. Vascular embolic phenomena: arterial emboli, septic pulmonary or intracranial emboli, splinter
haemorrhages, conjunctival haemorrhage, Janeway lesions
3. Immunologic phenomena: Roth spots, Osler’s nodes, glomerulonephritis, positive rheumatoid
factor
4. Fever
5. Predisposing heart condition or IV drug use.
6. Echo fi ndings that are suggestive but do not meet the major criterion

Rheumatic fever Streptococus pyogenes

Ducket Jones criteria2 major / 1 major + 2 minor
Major Minor
• C Carditis • Arthalgia
• E Erythema marginatum • Fever
• N nodules Subcutenous • High ESR
• C Chorea • Raised WBC
• E eryhtema marginatum • Prolong PR
•R • Previous Rheumatic fever

Treatment General and specific

• Rest
• High dose aspirin
 • Penicillin

• Prophylaxis
▪ Primary Penicilin V or clindamycin for 10 days
▪ Secondary Pencilin V for 5-10 yrs

Neurology

1.Idiopathic Parkinsonson’s Disease

Parkinsonism is a general term for Movement disoder which means any combination of
(BRITish Gentleman)
• Brady-kinesia
• Rigidity
• Postural Instability and
• Resting Tremors

Parkinsonism has many causes but idiopathic Parkinson’s disease is the most common
Other causes of Parkinsonism include:
• Drugs e.g Neuroleptic --may be reversible
• Parkisnson’s Plus Syndromes
• Wilsons’s disease
• Post Encephalitic
• Brain anoxia
• Lewy body dementia
• Toxins induced

Idiopathic Parkinson’s Disease:

• A neuro-degenerative disorder that begins between 45 to 65 years of age
• Characterized by an imbalance between the neurotransmitters Dopamine and Acetycholine due
to dopamine depletion
• So treatment of motor disturbance is focused at readdressing this disorder by giving anti-
cholinergics or dopamine agonists
• Slowly progressive disorder
• Asymmetrical involvement is the hall mark though in advanced cases all the limbs may
be affected
• Dementia is usually the late feature of Parkinson’s disease
• Seborrhea of scalp and face may be noted as well
• Head titubations are not present (May be present in Benign essential tremors)
 • Tremors may be absent in 20 % of cases
• Asymmetrical foot-tapping tremors may also be present
• Tremor may be present about the mouth and lip
• If gait is wide based think of cerebellar involvement as well ---Parkisnon’s plus syndrome

Parkinson’s Plus syndrome:

Neuro-degenrative disorders with features of Parkinsonism and other neurological involvements
May have:
• Symmetrical involvement
• Early onset dementia
• Early falls
• Postural hypotension
• Pyramidal signs (not explained by stroke)
• Cerebellar signs
• Poor response to Levodopa

Parkinsons’s Plus syndrome has 3 components:

1.Progressive Supra-nuclear Palsy
• Bradykinesia
• Rigidity
• Supra-nuclear disorder of eye movements and Pseudo-bulbar palsy

2.Multiple system atrophy

Autonomic insufficiency may be accompanied by:
• Parkinsonism
• Pyramidal deficits
• Lower motor neuron signs and cerebellar dysfunction

3.Cortico-basal degeneration
• Asymmetrical parkinsonism
• Signs of Cortical dysfunction like Apraxia,Sensory inattention, Dementia and Aphasia

Commands:
• Look at the patient and proceed
• Look at the face and proceed
• This gentleman has presented with tremors in the Hands,Do the neurological examination as appropriate
• This gentleman has difficulty in walking, Do the neurological examination as appropriate
Examination scheme:
Introduction
• Assess speech---Low volume, monotonous and slurred
General inspection - Look at the Face carefully
• Expressionless
• Mask like
• Drooling saliva
• Infrequent blinking etc

Ask the patient to keep the hands in semi-prone position --Resting tremors
Hands
• Tremors
• Brady-kinesia
• Finger Nose testing
• Rigidity--cog-wheel with synkynesia (one hand tap and other hand rigidity)
• BP- Postural hypotension
Elbows
• Rigidity---lead pipe (make use of Synkinesis)

Face and Eyes

• Can you Plz close your eyes gently—Blephroclonus
• Eye movements—Nystagmus and Upward gaze palsy

Gait: can you Plz stand up and walk few steps

• Freezing
• Posture
• Arm swinging
• Turning back
Hand writing
• Micrographia
Functional capacity
• Button and unbutton

I would like to complete my examination by taking

• Detailed history including history of medicines
• Complete neurological examination
• MMSE
• Check the postural drop
• Deduction of 5 from 100, then from 95 – increase tremor

Recording:
Well,
I have examined this gentleman

He has expressionless face with low volume, monotonous speech and infrequent blinking

In the right upper limb, he has evidence of: (If Right upper Limb is involved)
• Pill rolling resting tremors
• Bradykinesia
• Rigidity being cogwheel at the wrist and lead pipe at the elbow which increases with synkinesis

When asked to walk he has difficulty in starting his walk

Once he started his walk
• He adopts a stooped posture and walks with narrow based shuffling gait and has reduced arm
swinging on the right side
• He also has difficulty in turning back
• He also has evidence of Micrographia and problem with functional capacity in the form of
buttonjng and unbuttoning

However he does not have evidence of upward gaze palsy or cerebellar involvement

So based on this and because of asymmetrical signs

My most likely diagnosis for this gentleman is Idiopathic Parkinson’s disease

Differential Diagnosis:
1. Benign essential tremors if old age and presented with tremors
2. Other movement disorder like Huntington Disease---may have family history and dementia
3. Wilson’s disease---may have other features like early onset, chronic hepatitis with abnormal
movements etc
 4. Depression--- with expressionless face may be associated with disease itself

Investigations:
Diagnosis is clinical. however:
• Brain imaging like CT and MRI done to rule out structural pathology
• DaTSCAN using SPECT to differentiate Parkisnon’s disease related tremors from Benign
essential tremors
• Psychometric testing if symptoms of cognitive impairment
• Serum Urate level as a Prognostic indicator—as the level rises the rate of progression declines

Treatment: Treatment is generally symptomatic

A. General measures:

1. Patient’s education and explanation of the condition

2. Education of the family and care-givers
3. MDT package with aim for physical and speech therapy

4. Simple measures to improve daily living with the help of occupational health physician like:
• Placement of rails
• Special bath seats
• Cutlery with long handles
• Non-slip rubber table mats
• Shirt without buttons
• Shoes without laces
• Fixing the rugs to avoid falls
• Pendant alarm system to call for help if required
• Devices to amplify the voice etc

B. Medical Treatment

Generally not required early in the disease course

1. Amantadine
2. Dopaminergic drugs
▪ Levodopa with Carbidopa
▪ Dopamine agonists like Pramipexole and Ropinirole
▪ Others include: Bromocriptine, Pergolide and Cabergoline etc and
▪ Novel delivery system in the form of Transdermal patch have also been developed like
 Rotigotine
▪ Selective Monoamine Oxidase B inhibitors (MAO-B inhibitors) like Selegiline and
Rasagiline
3. COMT Inhibitors like Entacapone and Tolcapone
4. Anticholinergic Drugs like Benzatropine,Benzhexol,Procyclidine etc
5. Apomorphine Given subcutaneously if patient cant’t tolerate oral medicines
6. Antipsychotics: Clozapine,Olanzapine,Quetiapine and Risperidone etc for side effects of therapy

C. Brain Stimulation

D. Other Surgical approaches

• Thalamotomy
• Pallidotomy
• Sub-thaloamotomy

E. Gene Therapy

B. Medical Treatment detail: (Optional)

Generally not required early in the disease course
1.Amantadine
• Mode of action is unclear
• May be given for mild symptoms without disability
• It also improves Dyskinesias resulting from chronic Levodpa therapy
• Dose: 100 mg BD

2.Dopaminergic drugs
a. Levodopa with Carbidopa
• Levodopa is converted to dopamine
• Much effective for Motor symptoms
• Response fluctuations may occur like On--Off phenomenon
• Nausea, vomiting, hypotension may occur initially
• Restlessness, confusion, dyskinesias may occur later

Dose:
 • Stared wit small dose
• Brand name available is Sinemet—Carbidopa:Levodopa
• 2 strengths are available
• Tablet Sinemet 25/100 (25mg Carbidopa/100mg Levodpa) may take 3 times daily initially and
may gradullay increase depending upon the response
• Tablet sinemet 25/250 (25mg Carbidopa/250 mg Levodpa)

To reduce fluctuations
a. Controlled release preparations may be used
b. Carbidopa/Levodopa/Entacapne combination (Stalevo) can be given
c. Protein should be taken at minimum recommended levels and last meal could be
taken at night as the last meal

b. Dopamine agonists:
Pramipexole and Ropinirole---act on dopamine receptors
• Effective both in early and late disease
• Lower incidence of Response fluctuations and dyskinesias
• Can be given before start of Levodopa
• Can be given with low dose of Sinemet 25/100 TDS when treatment is started initially
• In above case the dose of Sinemet can be kept constant but agonist dose can be increased
gradually

Dose:
Pramipexole :
• Sarting 0.125 mg TDS can be doubled every week until between 0.5 to 1.5 mg TDS and response is
gained

Ropinirole:
• Sarting dose is 0.25 mg TDS
• Maximum between 2 and 8 mg TDS daily

Others include:
Bromocriptine, Pergolide and Cabergoline etc
Novel delivery system in the form of Transdermal patch have also been developed like Rotigotine

c.Selective Monoamine Oxidase B inhibitors (MAO-B inhibitors)

• They inhibit metabolic breakdown of Dopamine
• Can be used as adjunctive therapy in patients with response fluctuations with Levodopa
 • Selegiline –5 mg orally with breakfast and lunch
• Rasagiline—1 mg daily in the morning

3.COMT Inhibitors:
• Reduce the metabolism of Levodopa
• Can be used as an adjunct to Levodopa/Carbidopa in patients with response fluctuations or
inadequate response
• Entacapone 200 mg with each dose of Sinemet
• Tolcapone 100 mg or 200 mg TDS daily with Sinemet
• With above medicines the dose of Sinemet can be reduced by upto one-third concurrently with
every dose
• With Tolcopone LFTs are perfoemed 2 weekly for first year
• Stalevo combination of Levodpa/Carbidopa/entacapone

4.Anticholinergic Drugs
• Helpful for Tremors and rigidity but less so for bradykinesia
• Side effects limit routine use
• Avoided if cognitive impairment
• Elderly have poor tolerance

Examples:
Benztropine, Benzhexol, Procyclidine etc

5.Apomorphine given subcutaneously

6.Antipsychotics:
• Confusion and psychotic symptoms because of side effect of therapy can be managed with
atypical antipsychotics like Clozapine,Olanzapine,Quetiapine and Risperidone etc

C. Brain Stimulation:
High frequency stimulation of the sub-thalamic nuclei or golbus pallidus internus
Deep brain stimulation

D. Other Surgical approaches

• Thalamotomy
• Pallidotomy
• Sub-thaloamotomy
E. Gene Therapy

​2. Myotonia Dystrophica

A Multi-system disoder which may cause:
• Slowly progressive muscle wasting
• Myotonia
• Cataracts
• Cardiac conduction defects
• Endocrine deficiencies
• Respiratory problems

Autosomal Dominant disorder caused by Trinucleotide Repeat Expansion (CTG)

So there is earlier and severe presentations in the successive generations
It has 2 types
1. Type 1 is classical form
2. Type 2 has similar features to type 1 except there is proximal weakness and wasting

Commands:
• Look at the face and examine the hands
• Look at the patients and examine the appropriate neurological system
• This patient has family history of complication from anaesthezia, do the appropriate neurological
examination
• This patient has presented with weakness in the hands, do the appropriate neurological examination
• This patient has presented with collapse, do the appropriate neurological examination (Heart block)
• This gentleman/Lady has presented with dysphagia, do the relevant neurological examination

Examination scheme:
General examination:

Look for clues like:

• Middle aged male or female with thin face
• Sleepy look
• Pace maker
• Foot Orthoses nearby
Face (On inspection)
• Frontal baldness (if male and may be wearing a wig)
• Wasting of facial muscles (Thinning of face sometimes not much marked)
• Bilateral ptosis (Less often may be unilateral)
• Mouth hanging open (Sleepy appearance) Drooping mouth
• Can you Plz close your eyes tightly? Now plz open your eyes. (Myotonia)
• Can you Plz whistle? (Perioral weakness)
• Dysarthria • Low IQ • Cataract

Face, Eys, Neck (Palpation)

I am going to check power of your eyes and face muscles, is that ok with you?
▪ Ok , Plz close your eyes and don’t let me open them?
Thank you!
▪ Now Plz clench your teeth?
▪ Ok, Now I am going to check power of your neck muscles.
▪ Plz turn your face towards opposite side and push against my hand.
(Feel for sternocleidomastoid muscle)
Thank you!
▪ Now Plz push your face to other side against my hand.
Thank you!
▪ Now I am going to throw light into your eyes. Is that ok with your? (Cataracts)
Ok thank you!
▪ Now I am going to examine your hands and arms. Is that Ok with you?

Hands (Inspection and palpation)

• Wasting and pin prick marks
• Delayed grip (Usually checked on hand shaking during introduction)
• Percussion Myotonia
• Power of hand muscles weakness LMN pattern
• Brachioradialis reflexes
• NO Sensory loss
Inspection of Feet for wasting and Gait for high steppage

I would like to complete my examination:

• By taking detailed history
• Do the Fundoscopy (Diabetic Retinopathy)
• Thyroid examination (Goiter or May be scar)
• Heart and chest examination (Atrial Fibrillation, Pace maker, CCF etc)
• Dip the urine for glycosuria
• And check for Testicular atrophy • Gynecomastia • Cardiomyopathy, conduction block
• Esophagial dysmotility • Hypoventilation

Recording for Myotonia Dystrophica:

Well,
I have examined this Gentleman/Lady
He/She has:
⇨ Thin, elongated, expressionless face with frontal baldness (If male)
⇨ With bilateral ptosis and difficulty in opening the eyes after firm closure along with Loss of red
reflex in the eyes (Because of Cataracts)
⇨ There is wasting and weakness of facial muscles
⇨ There is also wasting and weakness of neck muscles as well
⇨ On examination of the Hands:
⇨ There is wasting and weakness of hand muscles with Pin prick marks of the fingers
⇨ There is also evidence of delayed grip and Percussion Myotonia
⇨ The deep tendon Relflexes are depressed
⇨ He/She also has high steppage gait
So based on this, My most likely diagnosis is Myotonia Dystrophica

Differential Diagnosis:
DD of Myotonia;
• Myotonia Congenita
• Mild Tetanus
DD of Distal weakness:
• Peripheral Neuropathy
• HMSN
• Distal Spinal Muscular Atrophy
• Inclusion body Myositis

Investigations:
Diagnosis is clinical one but some tests can be done as supportive measures and to look for
underlying associated complications
• Dive bomber potential in EMG
 • CPK mild elevation
• Muscle biopsy- variability in fiber size and fibrosis
• FBS and Hba1c, LFTs FSH (May be raised) Teststerone (May be Low/Normal)
• ECG to look for conduction block, Echo
• Genetic testing
• MRI brain brain atrophy

Treatment:
• There is no cure
• Treatment is symptomatic

General Measures:
• Patient’s education and explanation of the condition
• Education of the family as well
• Avoidance of certain factors like Opiates, Statins, and care about Anaesthetic agents

MDT care package like:

• Physiotherapist for muscle weakness
• Occupational health physician for wrist splints, foot orthoses and other necessary measures and
aids at home if required
• Help with Speech and language therapy
• Eye specialist if cataracts or retinopathy
• Cardiologist if heart involvement

Patient may be guided about Myotonia Dystrophy Support Group

Medical treatment:
Myotonia--Phenytoin or Procainamide

GI symptoms:
Delayed gastric emptying--Metoclopramide

Small intestinal bacteria overgrowth—Antibiotics

3.Myasthenia Gravis

⇨ Myasthenia Gravis is an autoimmune disorder characterized by autoantibodies binding to

acetylcholine receptors resulting in variable degree of block of neuromuscular transmission.
⇨ It may occur at all ages and may be associated with other autoimmune conditions.
⇨ It is most common in young women (Likely Young lady in PACES)
⇨ It may be unmasked by recent infection
⇨ It may also be exacerbated before menstruation.
⇨ It may present with fluctuating weakness of commonly used voluntary muscles.

Patient may present with:

• Diplopia
• Problem with chewing or swallowing
• Respiratory problems or weakness of limbs
• Weakness may be localized in the form of ocular Myasthenia Gravis or Generalized
• Most commonly Extra-ocular and other cranial muscles may be affected
• Most important being the diurnal variations

On clinical examination there may be weakness and Fatigueability

• Ptosis (commonly asymmetric) with normal pupillary reflexes
• Sensations are normal
• Reflexes are not affected

Don’t forget Myasthenic Crisis with Respiratory problems which may require admission in ICU and
ventilatory support

Commands:
• This Lady has presented with recurrent falls, do the appropriate neurologcial examination
• This Lady has presented with double vision, examine her.
• This Lady has presented with fatigue , do her neurological examination
• This Lady has presented with Dysphagia , do the appropriate neurological examination

Examination Scheme:
General inspection:
▪ Young lady (Most likely)
 ▪ Thymectomy scar or Mid-line Sternotomy scar (May be present which is a big clue)
▪ There may be evidence of other autoimmune disorders as a clue like RA, Thyroid problem, Vitiligo
etc.
▪ Jaw supporting sign
▪ Cushingoid appearance (May be present)
▪ Immunosuppression stigmata (May be present)
▪ Nasal speech
▪ Bulbar weakness—Nasal speech, poor swallow
▪ Proximal weakness UL>>LL
▪ Reflex/ sensory normal

Face and Eyes (Ptosis—may be unilateral or asymmetric bilateral with furrowing of forehead and
normal pupils)
▪ Fatigueability in Eyes
▪ Brief Rest of Eyes (Improvement)
▪ Eye Movements (Diplopia)
▪ Power of Eye muscles
▪ Complicated bilateral extra‐ocular muscle palsies (Complex ophthalmoplegia)

Fatigueability test, in upper limb with ceiling test and counting.

Now Plz clench your teeth (Temporalis and masseters)
Power of jaw muscles (Especially jaw closing)
Plz puff out your cheeks
Smile (Myasthenic Snarl)
Now can you Plz open your mouth and Say ahh! (Movement of uvula)
Ok thanks

I would like to complete my examination by taking detailed history including history of medicines
Look for thymectomy scar (If not exposed during examination)
Will look for other autoimmune associations
Single breath count – FVC

Recording:
Well, I have examined this Lady:
She has evidence of :
Thymectomy Scar (Midline sternotomy scar)
Vitiligo etc
There is evidence of:
• Variable Ptosis accentuated by sustained upward gaze and it Improves with brief eye closure
• Weakness of eye muscles with evidence of diplopia in multiple directions
• Bilateral facial muscle weakness with lack of facial expression and horizontal smile
 (Myasthenic Snarel)
• jaw weakness
• Voice has nasal twang with decreased movement of Uvula
• Weakness of neck Muscle

On examination of the upper Limbs, there is evidence of

• Proximal weakness and Fatigueability
• Deep Tendon Reflexes and sensations are normal

Differential Diagnosis:
1. Lambert Eaton Myasthenic Syndrome
2. Primary myopathies llike inflammatory and mitochondrial myopathies
3. Miller-Fisher syndrome
4. Snake bites
5. Botulism
6. Drug induced Myasthenia like syndrome e.g D-Penicillamine

Investigatons:
1. Ice pack test
2. Tensilon Test
3. Serology like anti-AChR antibodies 85% and anti-MuSK antibodies 15%
4. Electrophysiology studies to see Repetitive Nerve stimulation (RNS) Test ( >10% decrement on
3HZ) and Single fiber electromyography (SF-EMG) (most specific)
5. CT of the Chest (for thymoma)
6. Others : • CBC, ESR • Vital capacity • Thyroid profile, CPK • FBS TFTs
(Grave’s present in 5%)

Treatment:
General treatment:
• Patient’s education and explanation of the condition. Education of the family
• Avoidance of precipitators
• MDT care package if required
• Vaccinations including Pneumococcal and H influenza
• MidcAlert bracelets
• Help with Support Groups
• Check the Acetylcholine receptors antibodies annually
Medical Treatment:
1. Cholinesterase Inhibitors: e.g Pyridostigmine
2. Immunosuppressive therapy: Corticosteroids and Others include Azathioprine, Mycophenolate
Mofetil, Ciclosporin or Tacrolimus

Treatment of complications:
1.Myasthenic Crisis:
Severe weakness affecting Respiratory Function and require intubation and ventilatory support can be
triggered by infection, weaning of immunosuppression, surgery or pregnancy etc.
Treatment:
• Asmission to ICU
• Cholinesterase inhibitors are usually stopped to prevent excessive secretions in air-ways
• IVIG or Plasmapheresis
• Steroids
• Antibiotics

2. Cholinergic Crisis:
• Because of excess treatment
• Can cause weakness
• Treated by reducing the dose

3.Pneumonia especially aspiration pneumonia and is Treated accordingly

Surgical Treatment:
• Thymectomy
• Absolute indication is presence of Thymoma
• All Myasthenia Gravis patients with age less than 55 years are treated with Thymectomy
• Benefits of surgery may be apparent after many years

Notes:
Causes of bilateral extra‐ocular palsies
▪ Myasthenia gravis
▪ Graves’ disease
▪ Mitochondrial cytopathies, e.g. Kearns–Sayre syndrome
▪ Miller–Fisher variant of Guillain–Barré syndrome
▪ Cavernous sinus pathology
Causes of bilateral ptosis
▪ Congenital
 ▪ Senile
▪ Myasthenia gravis
▪ Myotonic dystrophy
▪ Mitochondrial cytopathies, e.g. Kearns–Sayre syndrome

▪ Bilateral Horner’s syndrome

​4.Cerebellar Syndrome
Commands:
• This Gentleman/Lady has presented with sudden balance problem, do the appropriate
neurological examination
• This Gentleman/Lady has presented with walking difficulty, do the appropriate neurological
examination

Examination scheme
General Inspection
Hands & Arms
• Intention Tremor
• Dysdiadochokinesia
• Finger nose testing
• Tone
Eye movements (INO if cause is MS and Nysatgmus)
Speech
Gait (May be checked at the start)
Balance with open eyes and close eyes (To differentiate from sensory ataxia as well)
Walking if feasible

Further examination scheme for cerebellar Lesion includes the following:

1. Examination of 5th, 6th, 7th and 8th Cranial Nerves (CP-angle Syndrome)
2. Evidence of Stroke
3. Eyes and Tongue (Jaundice and Glossitis for the underlying B-12 deficiency)
4. Lymph Nodes (Paraneoplastic)
5. Thyroid (Hypothyroidism may cause cerebellar involvement)
6. Other features of Malabsorption (Vit. B 12 and Vit. E deficiency)
7. Autoimmune features like Vitiligo (Autoimmune Gastritis leading to B 12 deficiency)
8. Fundoscopy (Papilledema for posterior cranial fossa tumor involving cerebellum)
9. Rest of the causes on History e.g Anti-epiletics, Alcohol, familial (Ataxia telangiectasia)

Recording for Imaginary cerebellar Lesion on the Right side:

Well, I have examined this Gentleman/Lady:
He is ataxic on the right
In the right upper Limb there is evidence of:
 • Intention tremor
• Dysdiadochokinesia
• Impaired finger nose testing with evidence of dysmetria
• Hypotonia
There is Nystagmus in the eyes with fast component towards the right side
The speech is slurred and explosive
In the right lower limb, there is impaired heel shin test
He is ataxic on the right side, with broad based gait

Causes:
Common causes include Alcohol, MS , Stroke and Drugs but following is the list
• Demyelination (MS)
• Friedrich’s ataxia
• Parkinson’s plus syndrome (Multiple system atrophy)
• PICA or Brain stem Stroke (Contralateral weaknsess)
• Posterior crania fossa tumor
• Paraneoplastic (Bilaterla ---anti – Yo and anti-Hu antibodies may be present)
• Hypothyroidism
• Vitamin B 12 deficiency
• Vitamin E deficiency and Abetalipoproteinemia leading to vitamin E deficiency
• Drugs like Phenytoin, Carbamazepine etc
• Familial like Ataxia telangiectasia
• Alcoholic cerebellar degeneration
• Wilson’s disease

Differential diagnosis:
• Sensory ataxia
• Vestibular Lesions

Investigations:
Can be done according to underlying possible cause on clinical basis e.g
• LFTs
• Thyroid function tests
• Parathyroid hormone
• Vitamine E and Vitamin B 12 level
• Serum ceruloplasmin
• Autoantibody screening especially for paraneoplastic

Brain imaging for conditions like

• MS
• SOL
• Stroke

Treatment: Depends on the underlying cause

​5.Recordings of Peripheral Neuropathy

A.Peripheral Sensorimotor Neuropathy

I have examined this gentleman (Lady)

In the Lower parts of the Legs, he (She) has evidence of:
• Dry and shiny skin with loss of hair upto the mid-calves
• Ulcers and callosities on the sole of the feet
• Ankle joints are Swollen with reduced range of movements (Charcot joints if present)

There is also wasting and Lower Motor Neuron type weakness in this part as well as evidenced by:
• Hypotonia
• Hyporeflexia and
• Downgoing Plantars

There is also bilateral symmetrical sensory loss in a stocking distribution as evidenced by:
• Impaired pin prick sensation
• Impaired joint position sensation

He (She) has wide based and high steppage gait with ataxia with positive Romberg Test
So based on this my most likely diagnosis is Peripheral Sensorimotor Neuropathy

B. Peripheral Motor Neuropathy

I have examined the Lower Limbs of this gentleman (Lady)

He (She) has Lower Motor Neuron type weakness in the distal parts of Lower Limbs as evidenced
by:
• Wasting
• Hypotonia
• Hyporeflexia and
• Downgoing reflexes
• High steppage gate
However the sensations are normal
So based on this my most likely diagnosis is Peripheral Motor Neuropathy
​C. Peripheral Sensory Neuropathy

I have examined this gentleman (Lady), He (She) has evidence of:

• Shiny and dry skin with Loss of hair up to the mid-calves
• Ulcers and callositie on the soles of feet
• The ankle joints are swollen with abnormal range of movements (Charcot joints)
• Bilateral symmetrical sensory loss in a stocking distribution with impaired pin prick and joint
position sensations

Gait is wide based and there is ataxia with positive Romberg test
However, there is no wasting and weakness and reflexes are not depressed
So based on this, my most likely diagnosis is Peripheral Sensory Neuropathy

Causes of peripheral neuropathy

▪ Diabetes mellitus
▪ Nutritional deficiency (B1, B6, B12, folic acid, pantothenic acid and vitamin E).
▪ Paraneoplastic sensory neuropathy (in bronchial carcinoma, lymphoma and multiple myeloma)
▪ Drugs (isoniazid, vincristine, phenytoin, amiodarone, statin, cisplatin, dapsone, nitrofurantoin)
▪ Alcoholism
▪ Guillain-Barré syndrome
▪ Infections (leprosy, HIV, typhoid and diphtheria)
▪ Collagen disease (SLE, polyarteritis nodosa and rheumatoid arthritis)
▪ Others—chronic renal failure (CRF), chronic inflammatory demyelinating polyneuropathy (CIDP)
▪ Idiopathic (in many cases).

Causes of Sensory Neuropathy:

▪ Diabetes mellitus
▪ Alcohol
▪ Deficiency of vitamins B1, B6 and B12
▪ Leprosy
▪ Chronic renal failure (Uremia)
▪ Paraneoplastic neuropathy (in bronchial carcinoma)
▪ Drugs (INH, vincristine)
▪ Hereditary sensory neuropathy
▪ HIV
▪ Multiple myeloma.
 ▪ Hypothyroidism
▪ Vasculitis

Causes of Motor Neuropathy:

▪ Guillain-Barré syndrome, CIDP
▪ Charcot-Marie-Tooth disease
▪ Acute intermittent porphyria
▪ Chronic lead poisoning
▪ Diabetic amyotrophy
▪ Diphtheria
▪ Paraneoplastic syndrome
▪ POEMS
▪ Drugs

Causes of Sensorimotor neuropathy:

• Alcohol
• Diabetes
• Hypethyroidsim
• Uremia
• Vasculitis
• HMSN

Mononeuritis multiplex
▪ Diabetes mellitus
▪ Leprosy
▪ Rheumatoid arthritis
▪ Vasculitis (SLE, polyarteritis nodosa)
▪ Amyloidosis
▪ Malignancy (carcinomatous neuropathy)
▪ Sarcoidosis
▪ HIV infection
▪ Wegener’s granulomatosis
▪ Acromegaly
▪ Paraproteinemia
▪ Lyme disease
▪ Idiopathic multifocal motor neuropathy.
​
Investigations:
1. General investigations: Simple blood tests to Look for possible cause like:
• CBC,ESR,CRP
• LFTs
• RFTs
• Serum Electrolytes
• Fasting Blood Sugar
2. Other specific blood Tests like:
• Thyroid Function, B 12 and Folate level
• Serum protein electrophoresis
 • Autoimmune profile
• Infectious screeing: Like HIV, Syphilis and Lyme’s Disease
• 24 Hour Urine analysis: For Porphyrias and Bence Jones Proteins
• CSF analysis:For GBS and CIDP
3. Nerve conduction studies and EMG sometimes
4. Genetic Testing for HMSN
5. Nerve biopsy

Treatment:
A. General Measures:
• Patient’s education and explanation of the condition
• MDT care package
• Education about feet care to prevent complications like Charcot’s Joint,ulcers etc
• Prevention of risk factors like alcohol
B. Medical treatment:
• Depends upon underlying possible cause e.g IVIG for GBS
• Diabetic Neuropathy with Tight glycemic control with Diet, Exercise, Drugs and insulin etc

Medicines:
Painful Sensory neuropathy:
• Pregabalin
• Gabapentin
• Duloxetine
• TCA
• SSRI

Treatment of Autonomic Neuropathy: This is symptomatic

Orthostatic Hypotension:
• Simple measures like avoiding sudden changes in posture
• Avoidance of Medicines that aggravates hypotension
• Raising the head end of the bed by 45 Degrees
• Fludrocortisone

Gastroparesis:
• Frequent small meals
• Metoclopramide
• Erythromycin
Bladder Dysfunction:
• Bethanechol
• Bladder training or catheterization if sever problem

Erectile dysfunction:
• PDE-5 inhibitors e.g Sildenafil

​6.Spastic Paraparesis

• Pyramidal pattern of weakness in the Lower Limbs

• It can be acut (Sub-acute) and chronic and
• It can be compressive and non-compressive
• In compressive type spastic Parapresis, there will be no signs above the Lesion
• Urinary catheter may be a clue that Spinal cord is involved
Commands:
• Examine the gait and then proceed as appropriate
• Examine the Legs

A. Spastic Paraparesis with Normal Sensations

1. MND (Fasciculations in the lower limbs may be a clue)

2. HSP (Upper Limb examination may be normal)
3. Para Saggital Tumor (May have Cortical sensory loss e.g Loss of both Stereognosis and
Graphasthezia)

Examination:
• Motor System
• Coordination
• Sensory System
• Gait

Then following
• Eye movements and Tongue (Fasciculations etc)
• Fundoscopy (Papilledema)

B. Spastic Paraparesis + Sensory Level I.e Absence of signs above the level
Compressive Lesion due to
1. Tumor
2. Trauma
3. TB
4. Abscess
5. Hematoma
6. Disc Herniation

Examination:
• Motor System
• Coordination
• Sensory System

Then following
• Back of spine (Scar, Gibbus, Deformity, Swelling etc.)

C. Spastic Paraparesis + Loss of Pain Sensations

(Spinothalamic tracts in upper Limbs are affected but Dorsal Column is Normal i.e Dissociated
Anaesthesizia)
1. Syringomyelia (Wasting of the hands may be a clue with impaired pain sensations in the upper
limbs as the Syrinx usually involves the cervical cord and it may extend into the brain stem as
well)
2. Anterior spinal artery stenosis

Examination:
• Motor System
• Coordination
• Sensory System

Then following examination

• Hands (Wasting, Burn marks etc)
• Pulse (Irregular)

D. Spastic Paraparesis + Impaired joint position sensation (Dorsal column involvement)

C- MAST
1. Cervical myelopathy (Cervical collar may be a clue)
2. Multiple sclerosis (Dysarthria, Nystagmus and cerebellar signs in upper limb may be a clue)
3. FA (Dysarthria, Nystagmus and Cerebellar signs in upper limb and bilateral Pes Cavus may be
clues)
4. SACD

5. Taboparesis

Examination:
• Motor System
• Coordination
• Sensory system

Then examination of eyes for the following features:

• Jaundice (Others tongue for Glossitis and splenomegaly for Vit. B-12 related features)
• Nystagmus (Cerebellum in MS)
• Argyll Robertson pupils (Syphilis)

E. Spastic Paraparesis + Depressed Ankles

P-MAST
1. Peripheral Neuropathy + Cervical myelopathy or Bilateral stroke
2. MND
3. FA
4. SACD
5. Taboparesis

Examination:
• Motor System
• Coordination
• Sensory system

Then following scheme

• Jaundice (Others tongue for Glossitis and Splenomegaly for Vit B-12 related features)
• Argyll Robertson pupils (Syphilis)
• Eye movements and tongue for fasciculation (MND)
6.Others

• Tropical spastic Paraparesis (HTLV-1 associated Myelopathy)

• Transverse Myelitis (causes may be Viral, Bacterial, Demyelination, Radiation, Vasculitis etc)

Inflammation of the cord which may be diffuse at one or more levels and may affect all the spinal cord
function which may result in bilateral Motor, Sensory and Sphincter deficit below the level of the lesion.

Investigations:
With acute or sub-acute onset following investigations are recommended
• FBC, ESR, CRP
• Chest X Ray
• CT Myelogram or MRI of the spine

With Non-acute presentation following investigations should be carried out

Blood tests e.g
• CBC, ESR, CRP
• Autoantibody screening
• Vitamin B 12 and Folate level
• Infectious screening with serological tests for HIV, Syphilis, HTLV-1
• Blood cultures, sputum cultures and early morning urine

Lumbar puncture with CSF analysis

MRI of the brain
Biopsy of the mass if required
EMG and NCS as appropriate

Management:
Depends upon underlying cause, Like for compressive Lesions we can proceed as below

• MDT care package including Physiotherapist, Occupationl health physician,

Neurophysician and Neurosurgeon etc
• If acute or subacute onset, urgent neurosurgical opinion
• Acute onset but no sphincter involvement yet, Urgent surgical decompression
• If malignant compression, IV dexamethasone and Spinal radiotherapy may be required
• Other medical measures include Muscle relaxants like Baclofen, Tizanidine and Dantrolene etc
• Neuropathic pain can be treated with TCA, Pregabalin and gabapentin etc
​Recording for Upper Motor Neuron Lesions

I have examined this gentleman (Lady).

• He (She) has Upper Motor Neuron weakness in Lower Limbs as evidenced by:
• Hyper-tonia
• Hyper-reflexia
• Up-going plantars

Other possible features depending upon the cause like:

• He has impaired Heel shin test in the Lower Limbs

• There is impaired Pin Prick sensation in the Lower Limbs with sensory Level upto T-10
• There is also evidence of impaired joint position sensation in the Lower Limbs

• He (She) has wide based (Dorsal column or Cerebellum) and high steppage gait (If Foot drop)
• The Rombergs test is also positive (Gait is ataxic if cerebellum is involved)

Recording For Lower Motor Neuron Lesions

I have examined this gentleman (Lady)
He (She) has Lower Motor Neuron weakness in the Lower Limbs as evidenced by:
• Wasting and fasciculations
• Hyptonia
• Hyporeflexia and
• Downgoing plantars

Other features may also be present depending upon the cause e.g if MND then may be following:
• Dysarthria with Nasal quality speech
• Wasting and fasciculations in the tongue
• Palatal paralysis

Recording for Combined Upper and Lower Motor Neuron weakness

(e.g Motor Neuron Disease)
I have examined this gentleman (Lady)
He (she) has both Upper and Lower Motor Neuron features in the Lower Limbs as evidenced by:
 • Wasting and fasciculations (May be the only features of LMN Lesion in the Lower Limbs)
• Hyper-tonia
• Positive ankle clonus
• Hyper-reflexia
• Upgoing plantars

But with
• Normal sensations

And other features may be present like:

• Dysarthria with Nasal quality speech
• Wasting of tongue with fasciculations
• Palatal weakness

Other relevant examination may include:

• Eye Movements
• Examination of Tongue for wasting and fasciculations (It may also be spastic if Pseudo-
bulbar)

Examination of Upper Limbs may show wasting and fasciculations

​7.Charcot Marie Tooth Disease (CMDT) or HMSN

⇨ Most common inherited neurological disorder
⇨ Patient may be young
⇨ Foot orthoses ankle supports etc (Foot drop due to distal wasting)
⇨ Bilateral Pes Cavus and Hammer toes (in long standing cases)
⇨ Tendon release scars may be present
⇨ Distal wasting and fasciculations
⇨ Hereditary Peripheral Neuropathy with predominant Motor involvement
⇨ Dorsal column may also be affected (Impaired joint position)
⇨ Some times there may also be impaired Pin-prick sensation in the stocking distribution
⇨ Nerves may be palpable

Recording for Charcot-Marie-Tooth Disease

I have examined the Lower Limbs of this gentleman (Lady)
He (She) has evidence of Bilateral Pes-cavus (Scar Marks etc)
There is evidence of distal wasting (Giving inverted champagne bottle appearance)
In distal parts of Lower Limbs, there is Lower Motor Neuron weakness as evidenced by:
• Wasting and Fasciculations
• Hypotonia (May be normal)
• Depressed ankles
• Downgoing plantars
• Palpable Nerves (May be--Particularly at the medial malleolus)

• There is impaired Pin-prick sensation in the stocking distribution (May be normal)

• Impaired joint position sensation and vibration (May be present)
• He (She) has wide based and high steppage gait and ataxic with positive Romberg test

Recording of CMTD (HMSN) in Upper Limbs

There is evidence of Pseudo-athetosis (When asked to close the eyes by stretching the arms)
Lower motor Neuron type weakness in the distal parts of Upper Limbs as evidenced by:
• Wasting of hands and evidence of Fasciculations
• Hypotonia (May be normal)
• Hyporeflexia
• Palpable nerves (Especially Ulnar nerve at the elbow)

• Impaired pin prick sensation in the glove distribution (May be normal)

• Impaired joint position and vibration sensation

• Gait is wide based, High steppage and ataxic with positive Romberg’s test

DD:
• Peripheral Neuropathy due to other causes
• Mononeuropathy
• L4-5 Nerve root Lesions

Investigaions:
• NCS
• Genetic studies

Treatment:
General Measures:
• Patient’s education and explanation of the condition
• MDT care package involving Physiiotherapist, Neurophysician, Orthopedic surgeon and
Occupatioal health physician
• Avoidance of triggers for neuropathy
 • Support groups
• Genetic counselling

Medical treatment:
•No cure
•Treatment is symptomatic

​8.Friedreich’s Ataxia
• Visual Aids
• Hearing Aids
• Pace maker
• Foot Orthoses

Bilateral Pes Cavus and cerebellar Signs are highly suggestive of Friedreich’s ataxia
Others
• Kyphoscoliosiosis
• High arched palate

Features in the Lower Limbs:

▪ Corticospial tracts Pyramidal weakness, extensor plantar responses
▪ Peripheral neuropathy Long standing leading to Bilaterlal Pes cavus, hammer toes, Distal
wasting and depressed ankles and May be impaired Pin prick and joint position with high
steppage gate and positive Romberg’s Test
▪ Cerebellar signs Impaired heel shin testing

Lower limbs in Friedreich’s ataxia

Bilateral Pes Cavus
Distal wasting and Pyramidal weakness with evidence of
• Hypotonia/Normal tone
• Depressed ankles
• Upgoing plantars
• Impaired heel shin test
• Impaired Pin Prick sensations in the Stocking distribution (May not be evident)
• Impaired joint position sensation and Vibration

Gait
• Broad based
• Ataxic on both sides
 • Romberg’s test is positive

Upper limbs
• Features of bilateral cerebellar involvement
Eyes
• Nystagmus
Speech

• Slurred

I would like to complete my examination by:

⇨ Taking detailed history
⇨ By complete neurological examination
⇨ Fundoscopy (DM,OA)
⇨ Examination of hearing, Heart
⇨ Dip the urine for Glycosuria

Differential diagnosis: Depressed ankles and upgoing plantars (P-MAST )

1. Peripheral Neuropathy + Cervical myelopathy or Bilateral stroke
2. MND
3. FA
4. SACD
5. Taboparesis

Investigations:
• NCS- slowing of motor velocities
• Genetic analysis
• ECG ECHO
• Vitamin E level
• Functional MRI
• FBC, U/E/ FBS HbA1C
• MRI of brain and spinal cord
• VEP/ AER
• Audiomety

Treatment:
A. General measures:
1. Patient’s education and counselling.
2. MDT care package involving
▪ Neurologist
 ▪ Physiotherapist, Orthopedic surgeon
▪ Occupational health physician
▪ Speech and Language therapist
▪ geneticist/ genetic counselor and social worker
B. Medical treatment:
1. Symptomatic treatment e.g Hearing aid, Antidepressant
2. Screening and treatment of DM
3. Screening and treatment of Heart problem e.g, Pacemaker
C. Surgical:
1. Corrections if required

Exam possibility= Spstic paraparesis / Imballance

If asked Lower limb= Start from gait → Wasting + pes cavus + UMN + post column+ + absent
jerk +cerebellar.

If asked upper limb= See tremor in hand to rule out parkinson’s → if no → look for cerebeller
signs.

FSHD (mostly upper limb)

1. Myopathic face → Wasting & weakness of facial muscle → D/D- (MG/ MD)
2. No Ptosis and eye movements are normal
3. Proximal muscle weakness and wasting
4. Superior margin of scapula are visible from front
5. Winging of scapula with positive Beevor sign
6. Foot drop
7. Hearing aid

Fasciculation cause
• MND
• Syringomyelia
• Cervical myelopathy
• Thyrotoxic myopathy
• HSMN
• Electrolyte disturbance( hypokalemia, hypomagnesemia)

Proximal myopathy
D/D- Cushing’s, Acromegally, Osteomalacia, Thyroid ds, PMR, PM, DM, MG, electrolytes,
Drugs, Muscular dystrophies
Station 3- MG, Muscular dystrophies Station 5- others
Inspection:
 • Face- cushingoid/ acromegally/ myopathic face/ eye- for Graves
• Neck – thyroid, Scar,
• Hands- clubbing
• Legs- pretibial myxedema
• Chest- thymectomy scar
• Rash- DM
• Gait- myopathic gait
• Finish UL/ LL as per scheme in 5 min 1 min for relevant

​9.Hemipresis (Stroke most likely)

Common in PACES exam
Commands:
• Examine the Upper Limbs of this gentleman
• Examine the Lower Limbs of this gentleman
• Examine the gait and proceed

Examination scheme as advised and done in routine, especially:

• Gait
• Motor system
• Coordination
Associated e.g
• Pulse
• Listening to carotids and Heart

I would like to complete my examination by

• Taking detailed History
• Complete the neurological examination including visual field testing
• Do the Fundoscopy
• Check the Blood pressure and
• Dip the urine for glycosuria

Recording of Lower Limb examination

I have examined this gentleman,
He has Upper Motor Neuron type weakness in the Right Lower Limb as evidenced by:
• Extensor Posturing
• Hypertonia
• Hyper-reflexia
• Upgoing plantar
• With normal coordination (If applicable)
And
 • Circumducting gait (Hemiplegic)

So based on this, my most likely diagnosis is Stroke

DD:
• SOL brain like Tumor, abscess, tuberculoma etc
• Demyelination (MS)
• Todd’s Paresis
• Migraine: may present with aphasia and hemiparesis
• Functional

Investigations:
▪ Oxygen saturations, glucose, BP, 12-lead ECG, blood tests (FBC, clotting, ESR, TFTs, LFTs, ANA,
blood cultures).
▪ MRI DW to exclude ischemic stroke early within 4.5 hours
▪ CT brain (often normal in the acute phase in embolic stroke) – may see thrombus (e.g. in proximal
middle cerebral artery) or the hyperdense signal of blood in haemorrhagic stroke.
▪ CXR (to rule out aspiration).
▪ Fasting glucose and lipids.
▪ Thrombophilia screen in young patients or if history of recurrent thromboembolism or miscarriage.
Sickle cell screen in Afro- Caribbean patients.
▪ MRI brain MRV, MRA brain ( ± neck and cerebral angiography to rule out AVM or aneurysm).
▪ 24-hour ECG, TTE, transcranial Doppler and, if appropriate, TOE (young patients with few or no risk
factors).
▪ Four Vessels Neck Doppler to document the narrowing

Treatment:
General:
As stated previously in other cases
Medical:
Depends upon the cause

​10.Motor Neuron Disease

⇨ A progressive disoder which is characterized by neuronal loss at all levels of the motor system
⇨ Characterized by both upper and lower motor neuron features in the same muscle group
⇨ Sensations are normal
⇨ There may be evidence of Bulbar/Pseudo-bulabar involvement
⇨ Bulbar palsy means LMNs of 9th,10th,11th and 12th may be involved
⇨ Other cranial nerves my also be affected like 5th and 7th cranial nerves motor function may be
affected
 ⇨ Oculomotor muscles are spared in MND
⇨ Speech may be slurred or nasal in quality
Pseudo-bulbar involvement may cause following features:
• Emotional Lability with spontaneous Laughing and crying
• Small stiff tongue
• Pronounce gag reflex
• Brisk jaw reflex
• Speech may be slow and thick like ‘hot potato speech’

Types of MND
1. Amyotrophic Lateral sclerosis (ALS) May have both upper and LMN features
2. Primary Lateral Sclerosis (PLS) Initially may have UMN signs only
3. Progressive Muscular Atrophy (PMA) May have LMN signs initially
4. Progressive Bulbar Palsy (PBP) May present initially with LMN (Bulbar) or UMN (Pseudo-bulbar)
signs

Differential Diagnosis:
1. Chronic inflammatory demyelinating polyneuropathy (CIDP)
2. Myasthenia Gravis:
Autoimmune neuromuscular disorder, Fluctuating symptoms of skeletal muscles
weakness, fatigueability and extraocular muscles may be involved
3. Poliomyeitis Syndrome
4. Dual pathology like Cervical Myelopathy and Peripheral Neuropathy
5. Syringomyelia/Syringo-bulbia
May have LMN signs with disassociated sensory loss at the level of the lesion and UMN
signs below the lesion
6. Inclusion Body Myostitis
Which is an inflammatory condition may develop in the elderly and may present with
distal and proximal muscle weakness without sensory involvement and no UMN features
.EMG and Muscle biopsy may be helpful
7. Spinal Muscular atrophy (SMA)
May diagnosed usually in infancy and rarely in early adulthood

Investigations:
▪ Diagnosis is clinical
▪ Investigations like MRI, CSF analysis, NCS, EMG and Muscle biopsy are done to rule out certain
other possibilities.

Treatment:
General Measures:
1. Patient’s and family education and explanation of the condition
2. MDT care package including (Patient autonomy for future choice, early involvement of palliative
care)
• Neurologist
• Physiotherapist
• Dietician
• Occupational therapist
• Speech and language specialist etc
3. Build up nutrition
4. Vaccinations etc
Medical treatment:
The only disease modifying treatment is Riluzole which can prolong life for 3-4 months which
should be offered to all.
NIV

Treatment of complications:
▪ Depression:
o Amitryptiline or SSRI
▪ Drooling:
o Anti-cholinegic drugs, TCA, Radiotherapy to the parotids and home suction therapy etc
▪ Communication problems:
o Speech and Language therapist
▪ Pathological laughing or crying:
o Amitriptyline and Lithium etc
▪ Dysphagia:
o Dietary advise and PEG insertion
▪ Respiratory problems:
o Cough augmentation devices, Physiotherapy, Suction and Non-invasive respiratory
support
▪ Fasciculations and muscle cramps: (Analgesia for pain)
o Magnesium, Vitamin E , Diazepam , quinine, carbamazepine and phenytoin etc
▪ Spasticity:
o Physiotherapy and muscle relaxants like Baclofen and Dantrolene etc

​11.Multiple sclerosis

⇨ An inflammatory demyelinating disorder of the CNS.

⇨ Lesions separated in space and time i.e at least there must be 2 distinct episodes of neurological
dysfunction to support a diagnosis of MS (So will be possible on history to support this on
clinical grounds)
 ⇨ Mixtures of neurological symptoms and signs that do not fit into a single diagnosis favors the MS
⇨ Usually young female patient or middle aged lady
⇨ Signs could be unilateral or bilateral

Common sites involved are

• Optic nerve
• Brainstem
• Cerebellum
• Spinal cord with Cortico-spinal and Dorsal column most likely and rarely spino-thalamic tracts.

Commands:
• Examine the eyes as this patient has presented with painful blurriness.
• Examine the speech of speech and proceed accordingly.
• This patient has presented with balance problem, examine her neurological system.
• This patient has walking difficulty, examine her.
• Examine the upper limbs of this lady.

Possible findings on eye examination:

• Decreased vision and decreased color vision with optic atrophy on fundoscopy
• Internuclear ophthalmoplegia (Usually bilateral)
• Relative afferent pupillary defect (RAPD)
• Ipsilateral or bilateral Nystagmus because of Cerebellar involvement with or without INO

Differential diagnosis:
With Spastic parapresis
C-MAST
• Cervical myelopathy
• Friedrich ataxia
• Subacute combined degeneration
• Taboparesis

And
• Ischemic stroke (If unilateral involvement)

Types:
1. Relpasing-remitting (80-85 %)
a. Most common
b. Acute and short exacerbation
 c. Followed by partial or complete recovery

2. Secondary progressive
a. Most patients with relapsing-remitting may evolve into this form without acute
exacerbations

3. Primary progressive
a. Progressive from onset

4. Relapsing progressive
a. Progressive with marked deteriorations

Investigations of Multiple sclerosis:

1. Diagnosis is usually clinical but can be supported with the help of imaging
2. T2 weighted MRI
3. Visual Evoked Potentials (VEP) shows asymmetrical and prolonged conduction
4. Lumbar puncture with CSF analysis IgG Oligocolonal bands In greater concentrations
5. Blood tests are done to rule out other causes
a. CBC,ESR,CRP
b. Thyroid profile
c. Vitamin B -12 levels
6. Vasculitis screening
7. MRI of the cervical cord to differentiae from cervical spondylsis
8. Anti-NMO antibodies to differentiate form Devic’s desease

Management:
The aim is to prevent disability and improvement in quality of life

A. General measures:
• Patient’s education and explanation of the condition
• Education of the family and carers
• MDT care package involving different professionals
• Vaccinations
• Support organizations like Multiple Sclerosis Society

​
 B. Medical treatment:
1. Treatment of acute attack:
a. Steroids: I/V or Oral Methylprednisonolone for 3-5 days
b. IV Immuneglobulins as second line option

2. Secondary prevention:
Relapsing remitting and relapsing progressive
▪ Interferon Beta or Glatiramer
▪ Natilizumab

Secondary progressive
▪ Mitoxantrone

Primary progressive
▪ Crrently not recommended treatment however the above options can be used

Other immunosuppressive agents can be tried like

▪ Azathioprine
▪ Methotrexate
▪ Cyclophosphamide

C. Treatment of complications:
• Fatigue
• Cognitive symptoms
• Mood changes
• Osteoprosis
• Bowel dysfunction
• Urinary symptoms
• Gait problems

​12. CP Angle Syndrome

General
• Facial asymmetry
• Front of ear
• Back of ear
• Inside ear for vesicles
 • Inside mouth for vesicles

Then
• Facial nerve examination

Followed by
• V, VI, VIII Nerves
• Stroke
• Cerebellum

Other Features to look for when facial nerve involvement

• Scar
• Parotid swelling
• Vesicles
• Back of neck for scar
• Weakness of arms

3rd nerve
Medical – DM, MS, Basal meningitis, Vasculitis, GCA
Surgical- Trauma, PCA aneurysm, tumor

Inspection

Complete ptosis, Lift the eyelid → see eyeball →down and out → see pupil→ miosis/ mydriasis

H → Diplopia maximal on contalateral superior gaze

Check –
• 4, 6, V 1
• Disc- papiloedema, Retinopathy
• Ispilat cerebeller
• Contra pyramidal- weber’s

Associated syndromes

• Caverous sinus syndrome- III, IV, V 1, V 2, VI + symatetic fibers → horner’s

• Orbital apex- II, III, IV, V 1, VI
• Superior orbital syndrome- III, IV, V 1, VI
4th nerve
Inspection: affected eye in higher than other in neutral position.

H → impairment of the affected eye adducted eye can’t look down. Diplopia maximum at looking down
and away from the affected side and cover test that outer image from affected side.

6th Nerve
Cause- DM, MS, Basal meningitis, Vasculitis, False localizing sign, CP angle Mass
Approach
Inspection: Convergent strabismus
H → impaired abduction of affected eye→ Diplopia→ cover test → ask which image disappear?
Outer/ inner.
Relavant
1. Associated 3rd , 4th – search Gaze palsy
2. Associated V1- Cavernous
3. 7th – Brain stem
4. 8th – CP angle
5. Disc- DN/HTN/OA/papiloedema—false localizing sign

6. Long tract sign - Brain stem syndrome- Millard gubler’s syndrome → VI+ VII+ contra hemiparesis
Important causes of cranial nerve palsy
1. Infection- basal meningitis
2. Infarction- stroke
3. Inflammation- MS
4. Trauma
5. Mononeuritis multiplex
6. Autoimmune condition
7. Diabetes

Relevant
N- Nerve 1up and 1 down until normal
I- Ipsilateral cerebeller
C- Contralateral pyramidal
E – Eye fundus for raised ICT

7th Nerve
A. UMN- stroke/ tumor/ demyelination/ trauma

B. B/L UMN—MND, pseudobulber palsy → present jaw jerk, taste sensation preserved
 C. LMN- Bell’s palsy, basal meningitis, Leprosy, sarcoid, Ramsay hunt , Lyme disease, HIV
D. B/L LMN- GBS, b/L bell’s palsy

E. Muscle ds- MG, Muscular dystrophy, FSHD, Mitochondrial myopathy

Approach

▪ Parotid scar → previous surgery

▪ Hearing loss ( VIII), ipsilateral loss of facial sensation( V) → CP Angle
▪ Ipsilateral sixth , contralat hemiparesis → medial pons
▪ Ear herpes/ pox → Ramsay Hunt
▪ Mastoiditis → Base of skull
▪ UMN with hemiparesis- MCA stroke

I would like to complete my examination with

• corneal reflex,
• otoscopy,
• formal audiometry and
• examination of upper and lower limbs.

Bulbar and Pseudobulbar palsy

Pseudobulbar Bulbar

• UMN • LMN
• CN V, VII (IX, X,XII) • CN IX, X,XII
• Facial expression, mastication • Diminished gag
• Bilateral degeneration of corticobulbar tracts • Tongue fasciculation, wasting
• é Gag reflex, tongue spasticity • Jaw jerk normal
• Jaw jerk exagerated • Unilateral – raspy voice
• Spastic dysarthria • Bilateral – nasal speech
• “Daffy Duck” • GBS, Stroke, MND
• MS, MND

Ptosis
 Unilateral Bilateral

With Without With ophthalmoplegia Without

ophthalmoplegia ophthalmoplegia Ophthalmoplegia

• Third nerve Horner’s syndrome Fatigable • Myotonic

palsy ▪ Miosis • Myasthenia gravis dystrophy
Mydriasis ▪ Partial ptosis Non fatigable • Senile
• Myasthenia • Mitocondrial myopathy CPEO • Congenital
initial stage • Occulopharyngeal muscular • B/L Horner’s
dystrophy
fatigable
• Miller fisher syndrome
• Neurotoxic snake bite

Horner’s Syndrome
Central 1st order Demyelination /Syringomyelia No sweating in face, arm and trunk

2nd order Trauma, surgery, pancoast , Lymph No sweating in face arm trunk →
node, goiter normal

3rd order cavernous sinus syndrome, carotid Sweating normal

dissection

Sequence
1. Partial Ptosis → ask to look up.
2. Lift the eyelid → colour of iris ( congenital heterochromia), Ask to dim the light for pupil, light
reflex
3. Eye movement H
4. Hands- Samll muscle wasting, clubbing, nicotin staining
5. Neck- Scar, dressing, cervical rib palpate, Goiter, palpalte thyroid gland
6. Chest- Scar, Dressing, pancoast
7. Lower limb- if time allows

Presentation
I would like to complete my examination by testing sweating
▪ Partial ptosis, which is overcome by voluntary upgaze
▪ Apparent Enopthalmos
▪ Miosis
▪ Scar
Other topics to study for PACES
1. Visual field defects
2. Wasting of small muscles of hands
3. Horner’s syndrome
4. Speech like Dysphasia
5. Old poliomyelitis
6. Muscular dystrophy
7. Brainstem syndrome
8. Radial, Median and ulnar nerves
9. Involuntary movements

​Respiratory System
I would like to complete my examination by
• Taking detailed history
• Check the oxygen saturation and Peak flow rate
• Look into the sputum
• And check the chart for vitals

​1. Interstitial Lung Disease & Steroid Therapy

I would like to complete my examination by:
▪ Taking detailed history
▪ Check the observation chart
▪ Check the 0xygen saturation at bed site
▪ Do the Peak flow metry and
▪ Look into the sputum mug

I have examined this Lady:

She has evidence of:
▪ Cushingoid appearance and
▪ Breathless at rest (with oxygen therapy)
▪ There is evidence of Clubbing and Peripheral cyanosis
▪ Multiple Striae
▪ JVP is Not raised
▪ Chest is of normal shape
▪ Trachea is central in position
▪ In the lower part of chest on both sides
 ⇨ Chest expansion is reduced
⇨ Percussion note is dull (or normal)
⇨ There are end inspiratory crackles that do not change on coughing
⇨ Vocal resonance is reduced (or normal)

2. Interstitial Lung diseases + Scleroderma + Pulmonary HTN + Steroid Therapy

I would like to complete my examination by:
▪ Taking detailed history
▪ Check the observation chart
▪ Check the 0xygen saturation at bed site
▪ Do the Peak flow metry and
▪ Look into the sputum mug

I have examined this Lady: She has:

Cushingoid appearance and breathless at rest (and on oxygen therapy)
In the Hands there is evidence of :
• Clubbing
• Peripheral synopsis
• Ulcers ,Pitting, Scars, Infarcts of finger tips.
• Sclerodactyly
• Smooth and shinny skin at the back of hands

She has Purpura and Striae

JVP is raised / not raised
There is evidence of:
▪ Thinning of nose
▪ Puckering of skin around the mouth
▪ Reduced opening of mouth

Chest is:
Of Normal shape and Trachea is central in position
In the lower part of the chest on the both side:
• Chest Expansion is reduced
• Precession Note is dull (Normal)
• Breath sound are reduced and there are inspiratory crackles that don’t change on coughing
• Vocal Resonance is reduced (Normal)

There is also evidence of left Parasternal heave and the pulmonary component of the 2nd heart
sound is also loud.
Peripheral edema is also present

CAUSES OF PULMONARY FIBROSIS:

1. Idiopathic pulmonary fibrosis is the most common cause (Idiopathic interstitial pneumonia)
2. Others are associated with different conditions like:
• Rheumatological or connective tissue disorders like RA,SLE,scleroderma,Ankylosing
Spondylitis,dermatomyositis etc
• Vasculitides like PAN, Churgh Strauss Syndrome etc
• Hypersensitivity pneumonitis like Bird Fancier’s lung,wood worker’s lung etc
• Occupational pneumoconiosis Coal worker’s lung, asbestosis and metal dust like berellyosis
etc
• Radiation or radiotherapy
• Smoking

• Tuberculosis may cause asymmetrical fibrosis

• Genetic form
• Medications Methotrexate,Amiodarone, Bleomycine, gold, Sulfasalazine and
cyclophosphamide etc

Differential diagnosis:
• Bronchiectasis
• Pulmonary edema
• Non-cardiogenic pulmonary edema

Investigations:
1. CXR-PA view to document:
▪ Reduced Lung volumes
▪ Reticulonodular shadowing and Honey comb appearance in advanced cases
▪ Other findings like Lymphadenopathy and calcified plaques etc

2. HRCT: To document pattern and distribution like

Ground glass appearance suggests good prognosis and responds well to steroids and
immunosuppressive therapy

3. Bronchoalveolar lavage (BAL):

a. If Lymphocyte predominant, it means good prognosis
b. Other cells like Eosinophils and Malignant cell can be sought as well
 4. CBC to check for polycythemia and WBCs response of active infection
5. Imflammatory markers like ESR,CRP

6. Specific investigations: Depends upon suspected underlying cause:

▪ Rheumatoid factor, anti-cyclic citrulline pepetide antibodies (ACCP antibodies)
▪ ANA, ASMA, Anti-ds DNA antibodies
▪ c-ANCA, p-ANCA
▪ CPK
▪ Anti-Scl 70 antibodies
▪ Serum ACE level
▪ Immunoglobulins
▪ Precipitins etc

7. 6 Minutes walk test to check functional status and desaturation

8. ABGs to document Type 1 respiratory failure
9. Pulmonary function tests to document if there is Restrictive pattern and to measure lung
volumes

10. Lung biopsy: Sometimes needed to reach a specific cause

▪ Trans-bronchial
▪ Video-assisted thoracic surgery (VATS)
▪ Open biopsy procedure

11. Echocardiography and Right heart Cathetrization sometimes required if there is suspicion
of Cor-pulmonale

Treatment:
General Measures:
• Patient’s education and explanation of the condition
• MDT care package
• Smoking cessation and avoidance of the triggers at job and at home
• Discontinuation of toxic medicines if taking
• Build up nutrition
• LTOT if required
• Vaccinations like Influenza and Pneumococcal
• Pulmonary rehabilitation exercises

Medical treatment:
 1. Treatment of underlying condition if possible with specific medicine if applicable
2. Others include following:
• Corticosteroids
• Immnunosuppressive therapy like Azathioprine
• Antifibrotic agents like Pirfinidone, n acetyl cysteine, Colchicine and D-Penicillamine
etc

Treatment of complications like:

• Infections with prompt use of Antibiotics
• Treatment of Cor-pulmonale etc

Surgical measures:
• With sever disease and age less than 65 years, Single OR Double lung transplantation
can be offered

3. Chronic Obstructive Pulmonary Disease (COPD)

I would like to complete my examination by:
▪ Taking detailed history
▪ Check the observation chart
▪ Check the 0xygen saturation at bed site
▪ Do the Peak Flowmetry and
▪ Look into the sputum mug

I have examined this Gentleman/Lady:

He/She is:
▪ Cachectic ,has Cushingoid appearance and breathless at rest
▪ In hands there is evidence of:
⇨ Nicotine staining
⇨ Tremors
⇨ Asterixis
▪ Pulse is regular
▪ JVP is not raised
▪ He/She also has evidence of: Jaundice and Cyanosis
▪ Chest is Hyper inflated
▪ Trachea is Central in position
▪ In whole of the chest on both sides
• Chest expansion is reduced
• Percussion note is hyper-resonant
 • Breath sounds are reduced and there is evidence of prolonged expiration and expiratory
wheezing
• Vocal resonance is also reduced.

Differential Diagnosis:
• Asthma
• Bronchiolitis Obliterans

Investigations:
1. CXR-PA View to look for
▪ Hyper-inflated lungs
▪ Flattening of diaphragms
▪ Tubular heart
▪ Bullae etc

2. HRCT: Most sensitive for diagnosing Emphysema

3. Sputum analysis including culture if required

4. ABGs:
▪ To check for Type 2 respiratory failure and Respiratory acidosis if exacerbation
▪ Also to assess for LTOT
5. Lung function tests to check if there is Obstructive pattern and lung volume assessments
And GOLD stage can be used to measure airflow obstruction

6. CBC to check for WBCs response and Hb to rule out secondary polycythemia
7. Infalmmatory markers like ESR and CRP for suspected underlying infection
8. LFTs if suspicion of Cor-pulmonale or Alfa-1 anti-trypsin deficiency
9. Serum electrolytes especially Poatssium level

10. ECG to check for

▪ right ventricular hypertrophy and
▪ arrhythmias like MAT, Wandering pacemaker and
▪ atrial fibrillation etc (Due to deoxygenation)
11. Echocardiography and Right heart catheterization study to for suspected Cor-pulmonale
Treatment:
General measures:
1. Patient’s education and explanation of the condition
2. Pulmonary rehabilitation with the help of MDT involving
▪ Build up nutrition
▪ Psychological support
▪ Physical training
3. Smoking cessation
4. Vaccinations like Influenza and Pneumococcal vaccines

Medical treatment:
▪ Bronchodilators like Inhaled B agonist/ ICS/ LABA/LAMA
▪ Anti-inflammatory therapy in the form of Oral/IV Corticosteroids in acute exacerbations and long
term inhaled corticosteroids as maintenance therapy

▪ Antibiotic and systemic steroid for acute exacerbations

▪ Mucolytics
▪ LTOT
▪ Diuretics and Phosphodiesterase inhibitors for Cor pulmonale

Surgery
▪ Bulectomy/ Lung volume reduction
▪ Lung transplant

Criteria for LTOT:

1. Patient should have stopped smoking
2. Supplementary oxygen therapy can be used for more than 15 hours and sometimes more than 20
hours
3. LTOT can be considered in the following patients group
• Cyanosis
• Raised JVP
• Peripheral edema
• Oxygen saturation < 92 % in air when stable
• Polycythemia
• FEV1 < 30 % predicted

Indications for LTOT in patients in which 2 ABGs are measured 2 weeks apart with following
readings:
1. PaO2 < 7.3 K Pa OR
2. PaO2 < 8 K Pa with one of the following:
 ▪ Secondary polycythemia
▪ Pulmonary HTN
▪ Peripheral edema
▪ Nocturnal Hypoxemia

​4. Pleural Effusion (right sided)

I would like to complete my examination by:

▪ Taking detailed history
▪ Check the observation chart
▪ Check the 0xygen saturation at bed site
▪ Do the Peak flow metry and
▪ Look into the sputum mug
I have examined this Gentleman/Lady:
He/She is:
▪ Cachectic and has
▪ Nicotine Staining
▪ Clubbing and wasting of Small muscles of Right hand
▪ Pallor, with evidence of Horner Syndrome
▪ Left cervical Lymph Nodes are palpable
▪ Right lower part of the chest is bulging
▪ Trachea is Central in positoin
(Deviated towards other side only if massive effusion or same side if there is collapse on the same
side as well)
▪ In the right lower part of the chest:
• Chest expansion is reduced
• Percussion note is stony dull
• Breath sound are reduced
• Vocal resonance is also reduced

There is no Edema

Differential diagnosis:
Causes:
Exudative: Protein content > 3gm/dl
• Infections like Pneumonia,TB etc
• Inflammation like RA,SLE etc
• Neoplastic like CA Lung, Metastasis, Mesothelioma and Meig’s syndrome etc
• Pulmonary infarction as may occur in Pulmonary embolism
• Drugs like methotrexate and nitrofurantoin etc
Transudative: Protein content < 3 gm/dl

Investigations:

1. CXR-PA view
2. Pleural tap For Cell count, biochemisty and Culture and Sensitivity and other possible
investigations depending upon the cause
3. ABGs
4. Sputum analysis including culture and sensitivity

5. CBC to look for anemia and WBCs response

6. Inflammatory markers like ESR,CRP and MT test
7. LFTs especially if atypical pneumonia suspected as a possible cause
8. Serum electrolytes like Hyponatremia may occur in atypical pneumonias

9. Depends upon underlying suspected cause, however following can be used:

▪ Serum LDH to be used in Light’s Criteria
▪ Serum albumin and Lipid profile
▪ Serum amylase
▪ TFTs
▪ Rheumatoid factor
▪ Autoimmune profile (ANA, ASMA, ANCA)

10. CT scan of the chest if suspected malignancy

11. Pleural biopsy.

12. Other possible investigations include:

▪ Lung biopsy
▪ Bronchoscopy
▪ Echocardiography
▪ Mammography
▪ CT abdomen
▪ PET
▪ Bone scan
​Light’s criteria for Exudative effusion:
• Pleural fluid Protein:Serum protein > 0.5
• Pleural fluid LDH:Serum LDH > 0.6
• Pleural fluid LDH > 2/3 of the upper Limit of normal serum value

Treatment:
Depends upon the underlying cause
General measures:
• Patient’s education
• MDT care package
• Build up nutrition
• Smoking cessation if applicable
• Salt and fluid restriction if required

Specific Treatment:
Depends upon underlying cause e.g for CA lung following measures depending upon the stage of the
tumor
Theraupetic Pleural tap: For symptomatic relief
Pleurodosis for recurrent or malignant effusion.

Anti TB for Tuberculosis

Surgical resection: For Non-SCLC but not suitable for Small Cell Lung Cancer
Chemotherapy: Cisplatin based regimen can be used in SCLC and can be as an adjunct in case of Non-
SCLC
Radiotherapy: As an adjunctive or alternative treatment for boh SCLC and NSCL
Palliative Treatment: Depends upon the patient needs

​5. Bronchiectasis
I would like to complete my examination by:
▪ Taking detailed history
▪ Check the observation chart
▪ Check the 0xygen saturation at bed site
▪ Do the Peak flow metry and
▪ Look into the sputum mug
I have examined this Gentleman/Lady:
He/She is:
▪ Cachectic and has Clubbing
▪ Trachea is central in position
▪ In the right lower part of the chest
 • Chest expansion is reduced
• Percussion note is Resonant/Dull
• There are inspiratory crackles (also inspiratory and expiratory) that change on coughing
• Vocal resonance is Reduced/Normal
There is no Peripheral Edema

Causes:
1. Childhood infections
▪ TB
▪ Measels
2. Chronic adult infections (Especially in immunodeficiency states like HIV)
▪ TB
▪ Pneumonia
3. Congenital defects
▪ Yellow nail syndrome
4. Ciliary dyskinesias
▪ Kartgener’s syndrome
▪ Cystic fibrosis
5. Autoimmune diseases
▪ RA
▪ IBD
6. Allergic bronchopulmonary aspergillosis
7. Bronchial obstruction:
▪ Foreign body
▪ Lymph adenopathy
8. Idiopathic

Causes of clubbing with Crackles in the chest

• Bronchiectasis
• ILD
• Lung cancer
• Lung abscess

Investigations:
1. CXR-PA View to Look for Ring shadows and Tram lines
2. HRCT to look for Signet ring sign
3. Sputum analysis especially culture and sensitivity, AFB staining
4. PFTs: To document Obstructive or restrictive pattern
 5. CBC to look for anemia and WBCs response
6. Inflammatory markers like ESR,CRP
7. Specific: Depends upon suspected cause
a. Serum ACE-level
b. HIV serology
c. Saccharine ciliary motility test

8. Immunnology:
a. Immunoglobulins
b. RA factor , ANA, ASMA, Anti – ds DNA etc
c. Aspergillus presiptians, Skin prick testing
9. Bronchoscopy and biopsy

10. Genetic Screening

Treatment of Bronchiectasis:
General measures:
▪ Oxygen therapy may be required if low oxygen saturation on rest
▪ Pulmonary Rehabilitation
• Patient’s education and explanation of the condition
• MDT care to deal different problems
• Build up nutrition
• Psychological and physical support

▪ Smoking cessation
▪ Avoidance of precipitans in ABPA
▪ Postural drainage and Physiotherapy

Medical treatment:
▪ Bronchodilators Inhaled B agonist/ ICS/ LABA/LAMA
▪ Treatment of complications Prompt control of infections with antibiotics

Surgical measures:
▪ Surgical resection for localized disease not controlled by medical treatment
▪ Bronchial artery Emobolization If massive hemoptysis
 ▪ Lung transplantation.

Related topics to study

• Yellow nail syndrome
• ABPA
• Kartagener’s syndrome

​6. Right lower Lobectomy

I would like to complete my examination by:
▪ Taking detailed history
▪ Check the observation chart
▪ Check the 0xygen saturation at bed site
▪ Do the Peak flow metry and
▪ Look into the sputum mug

I have examined this Gentleman/Lady: He/She has evidence of:

▪ Nicotine staining
▪ Clubbing, wasting
▪ Pallor
▪ Left cervical Lymph adenopathy
▪ There is evidence of Thoracotomy scar on the right side
▪ Trachea is central in position
▪ In the Right Lower part of the chest:
• Chest expansion is reduced
• Percussion note is dull
• Breath sounds are Absent/Reduced
• Vocal resonance is also reduced
Investigation
▪ Chest x ray –to look for confirmation
▪ CT thorax to look for underlying cause
▪ Pulmonary function test to look for Obstructive
▪ Blood-Differential count , ESR, CRP- to look for signs of infection,
▪ ECG and Echocardiography to rule out Pulmonary HTN
▪ Other Special tests as required

Management:
▪ Supportive
▪ Management of the original disease
Indication of Lobectomy
▪ NSCLC T3AN0M0
▪ Localized broncheictasis with massive hemoptysis
▪ Lung abscess
▪ Solitary pulmonary nodule
▪ Trauma
▪ Aspergiloma
▪ TB – not done now a days
Indication for Pneumonectomy
▪ Massive Broncheictasis
▪ Malignancy
▪ Multiple lung abscess
▪ Fungal infection
▪ Trauma
▪ Bronchial obstruction with destroyed lung
▪ Congenital lung disease
▪ Malignant mesothelioma/ disseminated thymoma

Indication of lung transplant

▪ COPD
▪ IPF
▪ Cystic fibrosis
▪ Alpha 1 antitrypsin deficiency
▪ Primary pulmonary hypertension

Other respiratory cases

1. Rheumatoid Lung
2. Lobectomy
3. Right, Upper, Lower, Left, Upper, Lower
4. Penemonectmoy
5. Consolidation
6. Effusion + Collapse
7. Malignancy (With evidence of Tattoo marks for radiotherapy)
8. Old Tuberculosis
9. Apical Fibrosis, Thoracoplasty, Pneumonectomy, Lobectomy, Plombage Therapy, Phrenic nerve
crush, Recurrent Pneumathorasis
10. Lung collapse
11. Lung Transplant (Single or Double)
 ​Abdomen
Stigmata of CLD
• Leuconychia
• Clubbing
• Palmar Erythema
• Duputyren’s Contracture (Alcoholic)
• Flapping Tremors
• Jaundice
• Cyanosis
• Spider Angioma
• Gynaecomastia (Male)
• Decreased Body Hair
• Engorged veins, Caput Medusae
• Purpura & Ecchymosis
• Testicular atrophy

Causes of CLD Causes Clues

Alcohol Duputyren’s contracture
Bilateral parotid swelling
Multiple spider nevi

Viral Piercing and Tatoos etc

Autoimmune Usually Female

• PBC Other autoimmune clues like
• PSC Alopecia,Vitiligo,Thyroid problem,Type 1 DM etc
• Autoimmune Hepatitis

Metabolic CLD in young plus Extrapyramidal features in Wilson’s

Disease
• Willson’s Disease
Young with COPD and CLD in alpha 1 anti trypsin
• Alpha 1 Anti-Trypsin Deficiency
deficiency
• Hemochromatosis
May be knee replacement in Hemochromatosis
• NAFLD

Vascular
• BCS History of DVT, tender Hepatomegaly,ascites in BCS
• CCF Features of CCF

Drugs History of medicines intake

• Methotrexate
• Amiodarone
• Phenytoin
• INH
Hepatomegaly Hepato-splenomegaly Isolated Splenomegaly
CLD CLD CLD
• NAFLD If no features of CLD consider
non – cirrhotic portal hypertension
• Alcoholic Liver Disease
(NCPHTN) with ascites or upper
• Hemochromatosis GI bleed and isolated
• PBC splenomegaly

• HCC
Metastatic Hematological Conditions Hematological conditions
Myeloproliferative • Myeloproliferative
Lymphoproliferative • Lymphoproliferative
Hereditary Hemolytic anemias like • Herediatary Hemolytic
Thalessemia and Hereditary anemias like Thalessemia and
Spherocytosis Herediatary spherocytosis
Vascular
• CCF
• BCS

Infective Infective Infective e.g

• Viral • Viral e.g HIV,EBV,CMV • Infective endocarditis
• Abscess • Bacterial e.g Dissemenated TB, • Malaria
Typhoid, Brucellosis etc
• Hydatid cyst • Kala azar
• Parasitic e.g Malaria, leishmaniasis,
schistosmiasis
.Infiltrative Infiltrative Inflammatory e.g
• Amyloidosis • Amyloidosis • SLE
• Sarcoidosis • Sarcoidosis • RA

Polyscystic Liver Storage Diseases e.g Gaucher’s Storage diseases

Disease, Glycogen storage disease
Riedel’s Lobe others Pernicious anemia

​Chronic Liver Disease

Investigations:
1. USG abdomen to confirm the findings e.g Coarse echotexture of the liver, Mass, Ascites and
Splenomegaly
2. Diagnostic ascetic tap for Cell count with differentials Biochemistry Culture and sensitivity
SAAG
3. LFTs to establish the severity e.g
a. Raised bilirubin
b. Transaminases
c. Synthetic function by determining Low albumin and Raised PT, INR
 d. S. albumin globulin and their ratio
e. Alfa feto protein
4. CBC to look for Anemia and Thrombocytopenia ( hyper-spleenism)
5. RFTs to look for Hepato-renal syndrome with other criteria
6. Serum electrolytes
7. Oesophago-gastro-dudenoscopy (OGD) for surveillance of Varices
8. To establish the cause:
a. Viral serology like HBs Ag, HCV antibodies
b. Autoimmune profile like ANA, ASMA, Anti-LKM 1, serum Immunoglobulins
c. Anti-Mitochondrial antibodies
d. Metabolic Profile like
i. Serum Ferritin
ii. Serum Ceruloplasmin
iii. Alfa 1 anti-trypsin level

9. CT scan of to rule out hepatoma → may proceed to triphasic CT of Liver

10. Doppler Scan for vascular patency
11. Liver biopsy for staging and determination of the cause if required
12. Other non invasive test for cirrosis
a. Transient Elastography
b. Acoustic radiation force Elastography (ARFI)
c. Magnetic resonance Elastogragphy (MRE)

Treatment:
General measures:
• Patient’s education and explanation of the condtion
• MDT care package
• Build up nutrition
• Vaccination especially against HAV, HBV, Infulenza and pneumoccus
• Salt restriction (If ascites)
• Daily weight measurement and abdominal girth if patient has ascites and on diuretics

Specific therapy:
Depends upon underlying cause:
• Alcohol reduction and abstinence
• Antiviral therapy against HBV and HCV ( B-Lamivutin, Entacavir, C- Sofosbuvir, Telapravir,
Bocepravir)
• Steroids and immunosuppressive for autoimmune diseases
• Specific therapy for metabolic causes accordingly
• HH- venesection, iron chelation
• Wislson’s- d penicilamine, Zinc
• PBC- UDCA, Immunosuprressant, cholestyraimine, antihistamine
 • NASH- Weight reduction, Control of diabetes

Treatment of complications:
Hepatic Encephalopathy:
• Find the triggers and fix it
• Antibiotics
• Gut purgatives like Lactulose
Upper GI bleeding:
• EGD with banding and sclerotherapy
• Beta-blockers
Ascites:
• Salt restriction
• Diuretics
• Theraputic paracentesis, TIPSS
SBP:
• Anitbiotics
• Albumin infusion
Hepatorenal syndrome:
• Albumin infusion
• Vasoconstrictives like Terlipressin
Hepatoma :
• Surgical resection
• Liver Transplantation
• Percutaneous ethanol injection/RFA
• Transarterial chemoemobolization (TACE)
• Chemotherapy like Sorafenib
• Palliative

If there is Isolated hepatomegaly

then Look for
 Stigmata Of CLD
YES NO

( ±Splenomegaly and ascites) Look for possible • Cardiac causes

causes
• Metastatic or HCC without CLD e.g
• Alcohol chronic hepatitis B infection
• NAFLD • Infective
• Hemochromatosis • Infiltrative
• PBC • Polysystic Liver
• HCC(Primary) • Storage diseases
• Riedel’s lobe

If there is isolated Splenomegly

Then look for

Stigmata of CLD
Yes No

• Alcohol • Hematological
• Viral • Infective
• Autoimmune • Inflammatory
• Metabolic • Infiltrative
• Vascular • Storage diseases
• drugs • Others

CLD with Splenomegaly OR Hepatosplenomegaly OR Hepatomegaly with Or without

Ascites

I would like to complete my examination by:

▪ Taking detailed history
▪ Check the observation charts
▪ Examine the external genitalia and hernial orifices
▪ And do the Digital rectal examination (If melena etc)
I have examined this Gentleman/Lady
He/She is:
▪ Cachectic
▪ In the Hands there is evidence of:
⇨ Clubbing
⇨ Leuconychia
 ⇨ Palmar erythema
⇨ Duputyrn’s contractures
⇨ Flapping Tremors (If Encephalopathy)
▪ In the arms, there is evidence of:
⇨ Scratch marks and bruising
▪ On further examination, there is evidence of:
⇨ Pallor
⇨ Jaundice
⇨ Multiple spider nevi in the chest
⇨ Bilaterlal gynaecomastia
⇨ Decreased Body hair

On examination of the abdomen:

▪ It is distended with evidence of prominent veins, white striae and umbilical hernia
▪ But soft and non-tender
▪ There is evidence of splenomegaly (Hepatosplenomegaly/Hepatomeglay)
with splenic edge being palpable 3 fingers breadth below the left costal margin which is firm,
smooth and non-tender and moves with respiration.
▪ There is clinically detectable ascites as evidenced by shifting dullness
▪ Bowel sounds are audible
However, there is No evidence of:
▪ Lymphadenopathy And
▪ Peripheral edema is not present

So based on this my most likely diagnosis is Cirrhosis with Portal Hypertension

Cause depends upon underling clues present:

Causes include:
1. Alcohol
2. Viral
3. Autoimmune
4. Metabolic
5. Vascular
6. Drugs and toxins
7. others

2. Ascites ( CLD, Malignancy, TB, Fluid overload, Vascular, Peritoneal dialysis peritonitis)
Investigations
1. USG abdomen for confirmation of diagnosis
2. Ascetic fluid for SAAG, Cell count, type, , Sugar, Protein, Malignant cell, Culture
3. To look for etiology
 ⇨ Alcohol and drug history
⇨ Metabolic profile ( NASH)
⇨ Viral markers
⇨ Cerulopasmin and urinary copper study( WILSON’S)
⇨ Ferritin (HH)
⇨ Liver biopsy( NASH, PBC, PSC)
⇨ Auto antibodies: AMA ( PBC) , ASMA, , IgG, Anti LKM ( AIH) ANCA (PSC)
⇨ Alpha 1 antitrypsin
⇨ AFP for HCC
⇨ Renal parameters and urinary protein for Nephrotic syndrome
⇨ ECHO for CCF/ CP/ RCM
⇨ Thrombophilia workup and CECT abdomen for Veno-occusive disease
Management:
• General – Patient education / salt and fluid restriction
• Medical- Diuretics- Spironolactone, Furosemide
• Treatment of SBP
• Therapeutic paracentesis

3. Heptomegally ( D/D- Cirrhosis, Cancer, Cardiac, Cyst, Infection, Infiltration, Inflammation)

Investigation
1. confirmation of diagnosis- USG abdomen
2. Look for etiology
⇨ Alcohol and drug history
⇨ Metabolic profile ( NASH)
⇨ Viral markers
⇨ Cerulopasmin and urinary copper study( WILSON’S)
⇨ Ferritin (HH)
⇨ Auto antibodies: AMA ( PBC) , ASMA, , IgG, Anti LKM ( AIH) ANCA (PSC)
⇨ Alpha 1 antitrypsin
⇨ AFP for HCC

⇨ ECHO for CCF/ CP/ RCM

⇨ Liver biopsy ( NASH, PBC, PSC)
⇨ Look for complications
⇨ LFTs
⇨ PT, INR, Albumin
⇨ FBC with inflammatory markers
⇨ CECT ABDOMEN
Management:
• General-patient education , counseling, dietary modification, weight reduction
• Specific- treat the underlying cause
4. Spleenomegally ( D/D Infection/ hematological/ congestive/ inflammatory/ neoplastic/ infiltrative)
Investigations:
▪ Confirmation: USG of Abdomen
▪ Doppler study to look for portal vein thrombosis
▪ FBC and inflammatory markers
▪ PBS look for malaria, kala azar, hemolysis
▪ Bone marrow to look for myeloprolifearative disorders
▪ JAK 2 mutation, Philadelphia chromosome
▪ Auto immune screen for RA, SLE- (RF, Anti CCP, ANA)
▪ Hemolysis screen- LDH, DCT, Bilirubin, haptoglobin, Hb electrophoresis
▪ HIV
▪ CXR for mediastinal enlargement

Management
• General: Patient education
• Specific : treat underlying cause. Spleenectomy for severe hyperspleenism.
• (Influenza/ Hemophilus/ pneumococcus, meningococcus vaccine needed after spleenectomy)
• Prophylactic Penicilline for at least 2 yrs.

5. Hepatospleenomagally
Investigations:
▪ Confirmation: USG of Abdomen
▪ Doppler study to look for portal vein thrombosis
▪ FBC and inflammatory markers
▪ PBS look for malaria, kala azar, hemolysis
▪ Bone marrow to look for myeloprolifearative disorders
▪ JAK 2 mutation, Philadelphia chromosome
▪ Auto immune screen for RA, SLE- (RF, Anti CCP, ANA)
▪ Hemolysis screen- LDH, DCT, Bilirubin, haptoglobin, Hb electrophoresis
▪ HIV
▪ CXR for mediastinal enlargement, ACE level for sarcoidosis
Management
▪ General: Patient education
▪ Specific : treat underlying cause. Spleenectomy for severe hyperspleenism.
▪ (Influenza/ Hemophilus/ pneumococcus, meningococcus vaccine needed after spleenectomy)
▪ Prophylactic Penicilline for at least 2 yrs.
6. Heptospleenomegally with Lymphadenopathy
( d/d Lymphoma, leukemia in blast crisis, disseminated TB, SLE, sarcoidosis, Infectious Mononeucleosis
syndrome, HIV)
Investigations:
▪ Confirmation: USG of Abdomen
▪ Doppler study to look for portal vein thrombosis
▪ FBC to see leucocyte count and inflammatory markers
▪ PBS look abnormal cells
▪ Bone marrow to look for myelo/ Lympho prolifearative disorders
▪ Auto immune screen for RA, SLE- (RF, Anti CCP, ANA)
▪ Lymph node biopsy if > 1month, > 1 region, > 1cm and not draining any infective focus
▪ HIV serology
▪ CXR for mediastinal enlargement, ACE level for sarcoidosis
▪ LFTs, Renal parameters,
Management
• General: Patient education
• Specific : treat underlying cause

7. Jaundice +/_ hepato/ Hepatospleenoegally (DCLD, Hepatitis, Hemolytic disease, malignancy,

infections)
Investigations:
▪ Confirmation: LFTs
▪ For etiology
▪ USG of Abdomen followed MRCP/ CT depending on USG findings
▪ Viral markers
▪ Autoimmune profile (AMA,ANA, ASMA, Anti LKM)
▪ PBS look abnormal cells, spherocytes,
▪ Hemoglobin electrophoresis, DCT to look for hemolytic diseases
▪ HIV serology
▪ FOR complication
▪ Coagulation profile
▪ OGD for esophageal varices
▪ Renal parameters
▪ Septic screen
▪ Ascitic fluid if any

8. Jaundice and Ascites +/_ hepato/ Hepatospleenoegally ( DCLD, , Malignancy ,Disseminated TB,
Cardiac cirrhosis)
 ▪ Confirmation: LFTs
▪ For etiology
▪ USG of Abdomen followed MRCP/ CT depending on USG findings
▪ Viral markers
▪ Autoimmune profile (AMA,ANA, ASMA, Anti LKM)
▪ Ascitic fluid for Cellularity, SAAG, Malignant cell, Culture
▪ Laparoscopy and peritoneal biopsy
▪ Echocardiography
▪ For complication
▪ Coagulation profile
▪ OGD for esophageal varices
▪ Renal parameters
▪ Septic screen

Management
• General: Patient education
• Specific : treat underlying cause

​Liver Transplant

Additional Features include following:

• Cushingoid appearance
• Thinning of skin
• Pin prink marks in the fingers
• Thinning of skin
• Busing
• Striae
• Supraclavicular and inter-scapular fat pads
• Cushingoid face with excessive hair and acne
• Mercedes Benz (Roof top scar which is non-tender)
• Tremors in the hands

• Gum hypertrophy
• Papillomas and skin warts
• others

Renal Transplant
I would like to complete my examination by:
 ▪ Taking detailed history
▪ Check the observation chart and blood pressure
▪ Dip the urine for hematuria and proteinurea

I have examined this Gentleman/Lady:

He/She has:
▪ Cushingoid appearance
▪ With evidence of:
⇨ Pin-prick marks
⇨ Tremors
⇨ AV fistula in the left arm which is non-functional at the moment
⇨ There are multiple scars in the right upper chest may be for previous access for hemodialysis
⇨ He/She also has evidence of gum-hypertophy

On examination of the abdomen:

▪ There is a scar in the right iliac fossa which overlies a firm, smooth and non-tender mass which is
dull to percussion and there is no bruit over it.
▪ Hower he/She does not have evidence of:
⇨ Uremia
⇨ Pallor and
⇨ Fluid overload

So based on this:
▪ My most likely diagnosis is End stage Renal disease and
▪ The current mode of Renal replacement therapy is Renal Transplant which is functioning very well
▪ The underlying cause seems to be Diabetes Mellitus
▪ And He/She also has side effects related to steroids use and Immuno-suppressive therapy

Investigations
• USG Doppler to confirm diagnosis and assess graft
• To check that the graft is working

⇨ FBC
⇨ Renal Function
⇨ Calcium and Phosphate
⇨ CXR for volume overload
⇨ ABG for metabolic acidosis

• To look for complication of immunosupression

⇨ Septic screen for patients with fever
 ⇨ Renal function/ LFT ( Cyclosporin )
⇨ Fasting lipid/ sugar ( tacrolimus)
⇨ Screen for opportunistic infection
⇨ Biopsy from transplanted kidney to look for Graft failure

Management
• MDT
• Patient education and counseling, compliance to immunosuppressant
• Monitoring for toxicity of immunosuppressant
▪ FBC, Renal parameters, LFT
▪ Septic screen
▪ Dermatology surveillance for PTLD
• Treat acute presentation of sepsis with antibiotic/ Antiviral/ antifungal
• Renal replacement therapy if graft function deteriorates despite adequate immunosupression
▪ Uremic encephalopathy
▪ Pericarditis
▪ Refractor fluid overload
▪ Decompensated metabolic acidosis and hyperkalemia

Adult Polycystic Kidney Disease (APKD)

I would like to complete my examination by:

▪ Taking detailed history
▪ Check the observation chart and blood pressure
▪ Dip the urine for hematuria and Proteinurea

I have examined this Gentleman/Lady:

He/She has:
▪ Distended abdomen with fullness in the flanks
▪ But soft and non-tender

▪ There are bilateral palpable flank masses with irregular suface, ballotable and I can get above it
▪ They are resonant to percussion
▪ There is no bruit or rub over it
▪ There is also no evidence of Uremia or fluid overload

So based on this:
My diagnosis is Bilateral Polycystic Kidneys
Investigation
• USG abdomen for Confirmation and measuring the number of cysts
• Renal function, Calcium and phosphate to look for secondary hyperparatyroidism
• Urine dipstick to look for hematuria/ protein
• Chest x ray to look for fluid overload
• CBC to look for anemia/ polycythemia
• LFTs to look for deranged liver function as there might be cysts in liver
• Screening for cerebral aneurysm with patients having family h/o SAH @5yrs.
• Genetic study for potential donors with no cysts on US
• Echocardiography to look for MVP, AR

Management:
• General
▪ Patient education and counseling about course of disease and complication
▪ Attempt 3lit fluid intake per day to suppress ADH secretion
▪ Screening of 1st degree relatives from the age f 20yr at least 3 cyst uni/ bilateral
▪ Avoid contact sports/risk of trauma to abdomen

• Specific medical
▪ ACEI for control of hypertension
▪ Avoid nephrotoxic drugs
▪ Antibiotics for UTI/ cyst infection
▪ Renal replacement therapy
▪ Indication of Nephrectomy
⇨ Recurrent infection
⇨ Uncontrolled hemorrhage
⇨ Suspected malignancy
⇨ Symptomatic mass effect
⇨ Extension of polycystic kidney into transplant site.

▪ Management of Hematuria- bed rest, hydration and analgesia

Mass in the abdomen (Origin from stomach)

I would like to complete my examination by:
 ▪ Taking detailed history
▪ Check the observation charts
▪ Examine the external genitalia and hernial orifices
▪ And do the Digital rectal examination (If melena etc)
I have examined this Gentleman/Lady,
He/She is:
▪ Cachectic
▪ With evidence of:
⇨ Clubbing
⇨ Pallor (Jaundice)
⇨ Lymphadenopathy (Site, size, shape, number, tender or not, discrete or matted)
▪ On examination of the abdomen:
⇨ It is asymmetrical
⇨ There is a mass in the left hypochodrium which is hard with ill defined borders and tender
⇨ It is dull to percussion
⇨ Not fixed to the abdominal wall
⇨ Not ballot-able
⇨ Non-pulsatile
⇨ Does not move with respiration
⇨ There is no bruit or bowel sounds audible over it and
⇨ I could get above it

So based on this my most likely diagnosis is mass originating form Pancreas of Stomach