The trouble with doctors is not that they don’t know enough, but that they don’t see enough.
In the short cases, candidates may be asked to examine a system or a particular part of the patient. Now that 15 minutes is available for each case, ‘spot’ diagnoses alone are not likely to be asked for by the examiners. The following pages outline a system for examining major short-case possibilities. Use this information to help develop your own system. Many useful lists are also included in this section.
We have also provided examples of typical X-rays and scans related to particular short-case examinations. At the end of each short-case discussion the examiners will often ask: ‘What investigations might be helpful in this case?’, and in many cases X-rays, CT scans or MRI scans will be indicated and available for you to look at and comment on.
In all cases, before beginning a specific examination you should stand back for a moment and carefully observe the patient. It is still important to look for an associated ‘spot’ diagnosis, such as peripheral neuropathy in a myxoedematous patient or aortic regurgitation in a patient with Marfan’s syndrome.
The patient will normally be positioned and undressed ready for you to examine. However, if either positioning or undressing is unsatisfactory, correct it. Ask the proctor attendant to help. All hospitals have different bed mechanisms and trying to work out how to adjust the bed when you are anxious is not worth it.
The cardiovascular system
The cardiovascular examination
‘This 50-year-old man presents with dyspnoea on exertion and orthopnoea. Please examine his cardiovascular system.’
Many candidates worry about where they should start the examination – with the hands or at the praecordium. It rarely matters, but if the instruction is to examine the chest you should do that first. Otherwise, you can start with the hands, but this must be done quickly and efficiently. Some candidates take so long on the periphery that they scarcely have time to examine the praecordium.
METHOD (SEE TABLE 16.1)
Cardiovascular system examination
1. Make sure the patient is positioned at 45° and that the patient’s chest and neck are fully exposed. For a woman, the requirements of modesty dictate that you cover her breasts with a towel or loose garment.
2. While standing back, inspect for the appearance of Marfan’s, Turner’s or Down syndrome. Also look for dyspnoea and cyanosis. It is also worth looking from a distance at the neck. Big V waves are sometimes more obvious from a distance.
Struggling unsuccessfully with an unfamiliar blood pressure cuff looks very bad – especially when the incorrectly placed cuff crackles and then bursts as you inflate it. Practise taking the blood pressure quickly with different sphygmomanometers.
3. Pick up the patient’s hand. While feeling the radial pulse, ask whether you may take the blood pressure. The examiners will usually expect you to take the blood pressure.
Inspect the patient’s hands for clubbing. Demonstrate Schamroth’s sign (Fig 16.1) to the delight of the examiners. If there is no clubbing, opposition of the index finger (nail to nail) demonstrates a diamond shape; in clubbing this space is lost. Also look for the peripheral stigmata of infective endocarditis. Splinter haemorrhages are common (and are usually caused by trauma), whereas Osler’s nodes and Janeway lesions (Fig 16.2) are rare. Look quickly, but carefully, at each nail bed, otherwise it is easy to miss key signs. Note the presence of an intravenous cannula and, if an infusion is running, look at the bag to see what it is. There will usually be a peripheral or central line in situ if the patient is being treated for infective endocarditis. Note any tendon xanthomata (type II hyperlipidaemia).
FIGURE 16.1 Lateral views of the index finger and Schamroth’s sign in a healthy individual (a) and (b), and in an individual with severe clubbing (c) and (d). L M Taussig, L I Landau. Pediatric respiratory medicine, 2nd edn. Fig 10-3. Mosby, Elsevier, 2008, with permission.
FIGURE 16.2 Janeway lesions. Based on G L Mandell, J A Bennett, R Dolin. Mandell, Douglas, and Bennett’s principles and practice of infectious diseases, 7th edn. Fig 195-15. Churchill Livingstone, Elsevier, 2009, with permission.
Radiofemoral delay should be assessed very quickly or not at all, unless the stem suggests the patient has hypertension (or you find hypertension when taking the blood pressure).
4. The pulse at the wrist should be timed for rate and rhythm. Pulse character is poorly assessed here. This is also the time to feel for radiofemoral delay (which occurs in coarctation of the aorta) and radial–radial inequality.
5. Next inspect the face. Look at the eyes briefly for jaundice (valve haemolysis) and xanthelasma (type II or III hyperlipidaemia) (Fig 16.3). You may also notice the classic ‘mitral facies’ (owing to dilatation of malar capillaries associated with severe mitral stenosis and caused by pulmonary hypertension and a low cardiac output). Then inspect the mouth using a torch for a high-arched palate (Marfan’s syndrome and the possibility of aortic regurgitation and mitral valve prolapse), petechiae and the state of dentition (endocarditis). Look at the tongue or lips for central cyanosis.
FIGURE 16.3 Xanthelasma. M Yanoff, J S Duker. Ophthalmology, 3rd edn. Fig 12-9-18. Mosby, Elsevier, 2008, with permission.
6. The neck is very important, so take time to examine here. The jugular venous pressure (JVP) must be assessed for height and character (see Table 16.2 and Fig 16.6). Use the right internal jugular vein to assess this. Look for a change with inspiration (Kussmaul’s sign).
FIGURE 16.6 The JVP and its relationship to the first (S1) and second (S2) heart sounds.
7. Now feel each carotid pulse separately (never together!). Assess the pulse character (see Table 16.3).
Arterial pulse character
8. Proceed to the chest. Look everywhere for scars. Previous mitral valvotomy may have been performed by a submammary or lateral thoracotomy approach. These patient slowly redevelop mitral stenosis over many years. Inspect for deformity, the site of the apex beat and visible pulsations. Do not forget about pacemaker and cardioverter-defibrillator boxes (Fig 16.5).
FIGURE 16.5 Pacemaker.
A conventional single lead pacemaker, an implantable cardioverter-defibrillator (ICD), and a right ventricular (RV) defibrillator lead. (a) Conventional pacemaker with one quadripolar lead that provides atrial and ventricular sensing and ventricular pacing. (b) Defibrillator system with biventricular pacing capability. Note that three leads: a conventional bipolar lead to the right atrium, a multipolar lead to the right ventricle, and a unipolar lead to the coronary sinus (CS). The bipolar lead in the right atrium will perform both sensing and pacing function. Likewise, the tip electrode in the right ventricle along with the shock coil performs RV pacing and sensing function. (c) Integrated bipolar RV defibrillator lead. The tip of this lead becomes enmeshed in the RV trabeculae (called a ‘tined’ lead) rather than engaging the myocardial wall with a screw (‘active fixation’). R D Miller. Miller’s anesthesia, 7th edn. Fig 43-1. Churchill Livingstone, Elsevier, 2010, with permission.
FIGURE 16.4 Chest radiographs (a) and (b), PA and lateral of a pacemaker. The atrial pacing lead (arrowhead) and the ventricular pacing lead (arrow) are smaller in diameter and less radiopaque than the leads associated with an ICD. P E Parson, J P Wiener-Kronish. Critical care secrets, 5th edn. Figs 18.2a and b. Mosby, Elsevier, 2013, with permission.
Mitral valvotomy scars (under the left or right breast) can be quite lateral and easily missed (with ghastly repercussions in the test).
9. Palpate for the apex beat position. Be seen to count down the correct number of intercostal spaces. The normal position is the fifth intercostal space, 1 cm medial to the midclavicular line. The character of the apex beat is important. There are a number of types.
a. A pressure-loaded (hyperdynamic, systolic overloaded) apex beat is a forceful and sustained impulse (e.g. in aortic stenosis, hypertension).
b. A volume-loaded (hyperkinetic, diastolic overloaded) apex beat is a forceful but unsustained impulse (e.g. in aortic regurgitation, mitral regurgitation).
Don’t miss the tapping apex beat of mitral stenosis (a palpable first heart sound) or the dyskinetic apex beat caused by a previous large myocardial infarction. The double or triple apical impulse in hypertrophic cardiomyopathy is very important too. Feel also for an apical thrill and time it.
10. Palpate with the heel of your hand for a left parasternal impulse, which indicates right ventricular hypertrophy or left atrial enlargement. Now feel at the base of the heart for a palpable pulmonary component of the second heart sound (P2) and aortic thrills. Percussion is usually unnecessary.
11. Auscultation begins with listening in the mitral area with both the bell and the diaphragm. Spend most time here. Listen for each component of the cardiac cycle separately. Identify the first and second heart sounds (see Table 16.4) and decide whether they are of normal intensity and whether they are split. Now listen for extra heart or prosthetic heart sounds (see Table 16.4) and murmurs (see Table 16.5). Mechanical valves include bileaflet, ball case and tilting disc. Ball case valves have a sharp opening sound and may rattle. Tilting disc valves have soft opening sounds and sharp closing sounds. All mechanical valves require anticoagulation. Biological valves may have a systolic murmur; anticoagulation is not required. Do not be satisfied at having identified one abnormality. However, remember it is quite common to get simple rather than complex lesions in the examination.
Differential diagnosis of murmurs
*Aortic stenosis and aortic regurgitation or mitral stenosis and mitral regurgitation may be confused with a continuous murmur.
12. Repeat the approach at the left sternal edge and then at the base of the heart (aortic and pulmonary areas). Time each part of the cycle with the carotid pulse. Listen below the left clavicle for a patent ductus arteriosus murmur, which may be audible here and nowhere else.
13. It is now time to reposition the patient, first in the left lateral position. Again feel the apex beat for character (particularly tapping). Auscultate carefully for mitral stenosis with the bell. Next sit the patient forward and feel for thrills (with the patient in full expiration) at the left sternal edge and base. Then listen in those areas, particularly for aortic regurgitation.
14. Dynamic auscultation should always be done if there is any doubt about the diagnosis. The Valsalva manoeuvre should be performed whenever there is a systolic murmur, otherwise hypertrophic cardiomyopathy is easily missed (p. 330).
The patient who seems familiar with the Valsalva manoeuvre may well have a murmur affected by it.
15. The patient is now sitting up. Percuss the back quickly to exclude a pleural effusion (e.g. due to left ventricular failure) and auscultate for inspiratory crackles (left ventricular failure). If there is radiofemoral delay, also listen for a coarctation murmur here. Feel for sacral oedema and note any back deformity (e.g. ankylosing spondylitis (p. 405) with aortic regurgitation).
16. Next lay the patient flat and examine the abdomen properly (p. 358) for hepatomegaly (e.g. as a result of right ventricular failure) and a pulsatile liver (tricuspid regurgitation). Perform the hepatojugular reflux test. Press over the upper abdomen for 15 seconds or so and watch for a rise in the JVP. This is a reliable sign of heart failure. Feel for splenomegaly (endocarditis) and an aortic aneurysm. Palpate both femoral arteries. Then examine all the peripheral pulses. Look particularly for peripheral oedema, clubbing of the toes, Achilles tendon xanthomata (Fig 16.7), signs of peripheral vascular disease and the stigmata of infective endocarditis.
FIGURE 16.7 Xanthomata. P Durrington. Dyslipidaemia, Lancet, 2003. 362:717–731.
17. At the end, ask the examiners for the results of the urine analysis (haematuria in endocarditis) and a temperature chart (fever in endocarditis), and examine the fundi (for Roth’s spots (Fig 16.8) in endocarditis and for hypertensive changes).
FIGURE 16.8 A retina showing cotton wool spots, retinal haemorrhage and Roth’s spot in a septic bactereamic cancer patient. I Celik, M Cihangiroflu, T Yilmaz. The prevalence of bacteriaemia-related retinal lesions in seriously ill patients. Journal of Infection, 2006. 52(2):97–104, Fig 1.
• It is fairly unlikely that you will have time to complete all aspects of your examination. If you are stopped, mention the list of things you would still like to do that are particularly relevant.
• If you have auscultated and there is nothing obvious at first, consider the following and exclude them:
1. mitral stenosis (see Fig 16.9) (position and exercise if necessary)
FIGURE 16.9 (a) and (b) Mitral stenosis on PA film. The left atrial appendage is dilated and there are prominent pulmonary arteries. The heart appears enlarged because of right ventricular enlargement, which is more obvious on the lateral film. Figures reproduced courtesy of The Canberra Hospital.
2. atrial septal defect (listen carefully for fixed splitting)
3. mitral valve prolapse (perform a Valsalva manoeuvre)
4. pulmonary hypertension (see below)
5. constrictive pericarditis.
Notes on valve diseases
After you have made a diagnosis of a valve lesion, the following are the types of facts you should know. An assessment of the lesion’s severity is usually required.
Candidates should be able to make some recommendation as to appropriate follow-up. Most patients with valve abnormalities should be reviewed regularly and have repeat echocardiograms. For patients with mild abnormalities about every 3–4 years is sufficient, but for more severe cases annual review is usually recommended. Patients who are not symptomatic but have severe disease may need 6-monthly review, usually with a repeat echocardiogram. Patients should be advised to return for earlier review if symptoms (e.g. dyspnoea, chest pain or exertional dizziness) occur.
Valve area: normal, 4–6 cm2; severe mitral stenosis, <1 cm2.
1. Rheumatic (in women more often than men).
2. Congenital very rarely (e.g. parachute valve, with all chordae inserting into one papillary muscle).
CLINICAL SIGNS OF SEVERITY
1. Small pulse pressure.
2. Early opening snap (owing to raised left atrial pressure).
3. Length of the mid-diastolic rumbling murmur (persists as long as there is a gradient).
4. Diastolic thrill at the apex (rare).
5. Presence of pulmonary hypertension, the signs of which are:
a. prominent a wave in the JVP
b. right ventricular impulse
c. loud pulmonary component of the second heart sound (P2); a palpable P2 is more helpful
d. pulmonary regurgitation
e. tricuspid regurgitation.
RESULTS OF INVESTIGATIONS
a. P mitrale in sinus rhythm
b. atrial fibrillation (a sign of chronicity)
c. right ventricular systolic overload (severe disease)
d. right-axis deviation (severe disease).
2. Chest X-ray film (see Fig 16.9):
a. mitral valve calcification
b. big left atrium:
i. double left atrial shadow
ii. displaced left main bronchus
iii. big left atrial appendage
c. signs of pulmonary hypertension:
i. large central pulmonary arteries
ii. pruned peripheral arterial tree
d. signs of cardiac failure.
Note: If the investigations suggest that left ventricular dilatation is present in the presence of a mitral stenosis murmur, consider these other possibilities:
• associated mitral regurgitation
• associated aortic valve disease
• associated hypertension
• associated ischaemic heart disease.
Echocardiograph (M mode, 2D Doppler and colour flow mapping)
The posterior mitral leaflet maintains its anterior position in diastole and this is pathognomonic. A delayed mitral closure with decreased ejection fraction slope (an M mode index of mitral valve opening) is not pathognomonic but is very suggestive. There may be heavy echoes from thickened or calcified mitral leaflets. On two-dimensional (2D) scanning the valve can be seen doming in diastole. The mitral valve area can be quite accurately determined by 2D echocardiography and Doppler measurements. The valve area is estimated using the pressure half-time measurement. This analysis of Doppler left ventricular inflow is performed routinely when mitral stenosis is suspected. Colour flow mapping makes finding the inflow jet easier and is very sensitive for the detection of any associated mitral regurgitation.
INDICATIONS FOR SURGERY
Exertional dyspnoea and falling valve area (when the valve area falls to about 1 cm2) with signs of increasing right heart pressures are the usual indications for surgery. It should usually be performed before pulmonary oedema or major haemoptysis has occurred (when the valve area falls to about 1 cm2).
A declaration that the apex beat is ‘tapping’ in quality tells the examiner that you have made the diagnosis of mitral (or very rarely tricuspid) stenosis. It is unwise to allow the word ‘tapping’ to escape your lips unless you are happy that this is the diagnosis.
CAUSES – CHRONIC
1. Degenerative disease.
2. Mitral valve prolapse.
3. Rheumatic (men more often than women) – rarely is mitral regurgitation the only murmur present.
4. Papillary muscle dysfunction:
a. left ventricular failure
5. Connective tissue disease – rheumatoid arthritis, ankylosing spondylitis.
6. Congenital – endocardial cushion defect (including primum atrial septal defect (ASD) and cleft mitral leaflet), parachute valve, corrected transposition.
CAUSES – ACUTE
1. Infective endocarditis (perforation of anterior leaflet), rupture of a myxomatous cord.
2. Myocardial infarction (chordae rupture or papillary muscle dysfunction).
CLINICAL SIGNS OF SEVERITY
1. Enlarged left ventricle.
2. Pulmonary hypertension (a late sign).
3. Third heart sound (not always reliable).
4. Early diastolic rumble.
5. Soft first heart sound.
6. Aortic component of second heart sound (A2) is earlier.
7. Small-volume pulse (very severe).
8. Left ventricular failure.
RESULTS OF INVESTIGATIONS
a. P mitrale
b. atrial fibrillation
c. left ventricular diastolic overload
d. right-axis deviation.
2. Chest X-ray film:
a. large (sometimes gigantic) left atrium
b. increased left ventricular size
c. mitral annular calcification
d. pulmonary hypertension (much less common).
3. Echocardiography (see Fig 16.10) – this will give information about the possible aetiology, the severity and any associated valve or structural abnormalities:
FIGURE 16.10 Echocardiography report in a patient with mitral regurgitation and mitral valve prolapse.
a. thickened leaflets – rheumatic aetiology
b. prolapsing leaflet(s)
c. left atrial size (a sign of chronicity and severity)
d. left ventricular size and function
e. Doppler detection of the regurgitant jet in the left atrium; colour mapping of jet size and detection of reversal of flow in the pulmonary veins
f. other abnormalities (e.g. aortic valve disease as a result of rheumatic carditis or an ASD associated with mitral valve prolapse)
g. calcification of the mitral annulus – common in elderly people. Note: the valve leaflets may not appear abnormal.
INDICATIONS FOR SURGERY
In chronic mitral regurgitation, consider surgery if there are class III or IV symptoms, or if there is left ventricular dysfunction or the left ventricular dimensions have increased progressively. In acute mitral regurgitation, operate if there is haemodynamic collapse (there usually is). Repair of a prolapsing posterior and often anterior leaflet is now undertaken earlier than valve replacement. The short- and long-term results (1% recurrence per year) are so good that the operation should be recommended for even mild symptoms or once left ventricular dilatation occurs. Mitral valve replacement is usually with a mechanical valve. Tissue valves in the mitral position have a relatively short life (sometimes only 5 to 7 years).
Mitral valve prolapse (systolic click–murmur syndrome)
This is the most common heart lesion in the community (3% of adults) and is more common in women. When it occurs in men it is more likely to progress to cause significant regurgitation.
The click murmur is affected by the:
1. Valsalva manoeuvre (decreases preload) – murmur longer, click earlier
2. handgrip (increases afterload) or squatting (increases preload) – murmur shorter.
There is now thought to be a considerable variation in the normal range of the appearance of the mitral leaflets on echocardiography. Some redundancy of one or both leaflets is commonly seen in normal people. Prolapse of a leaflet of 1 cm or more into the left atrium behind the attachment point of the valve is considered abnormal. Antibiotic prophylaxis, however, is not necessary for these patients unless mitral regurgitation is detected on Doppler interrogation.
1. Marfan’s syndrome.
2. ASD (secundum).
COMPLICATIONS (MORE COMMON FOR MEN WITH MITRAL VALVE PROLAPSE)
1. Mitral regurgitation.
2. Infective endocarditis.
Arrhythmias, embolism and sudden death are probably not complications of mitral valve prolapse.
CAUSES OF CHRONIC AORTIC REGURGITATION
1. Rheumatic (rarely the only murmur in this case).
2. Congenital (e.g. bicuspid valve; ventral septal defect (VSD) – an associated prolapse of the aortic cusp is not uncommon).
3. Seronegative arthropathy, especially ankylosing spondylitis.
Aortic root (murmur may be maximal at the right sternal border)
1. Marfan’s syndrome.
2. Aortitis (e.g. seronegative arthropathies, rheumatoid arthritis, tertiary syphilis).
3. Dissecting aneurysm.
4. Old age.
CAUSES OF ACUTE AORTIC REGURGITATION
Note: Murmur may be soft because of increased left ventricular end-diastolic pressure.
1. Valvular – infective endocarditis.
2. Aortic root – Marfan’s syndrome, hypertension, dissecting aneurysm.
CLINICAL SIGNS OF SEVERITY IN CHRONIC AORTIC REGURGITATION
1. Collapsing pulse.
2. Wide pulse pressure.
3. Length of the decrescendo diastolic murmur.
4. Third heart sound (left ventricular).
5. Soft aortic component of the second heart sound (A2).
6. Austin Flint murmur (a diastolic rumble caused by limitation to mitral inflow by the regurgitation jet).
7. Left ventricular failure.
A loud systolic murmur, rarely with a thrill, may be present in patients with severe aortic regurgitation without any organic aortic stenosis being associated. The peripheral signs of aortic regurgitation are the clue that this is the real lesion in this situation.
RESULTS OF INVESTIGATIONS
1. ECG – left ventricular hypertrophy (diastolic overload).
2. Chest X-ray film:
a. left ventricular dilatation
b. aortic root dilatation or aneurysm (see Fig 16.11)
FIGURE 16.11 Massive dilatation of the thoracic aorta (arrow) is seen in this patient with Marfan’s syndrome and aortic regurgitation. Figure reproduced courtesy of The Canberra Hospital.
c. valve calcification.
a. left ventricular dimensions and function
b. Doppler estimation of size of regurgitant jet
c. vegetations (endocarditis can be a cause of acute aortic regurgitation)
d. aortic root dimensions
e. valve cusp thickening or prolapse.
INDICATIONS FOR SURGERY
1. Symptoms – dyspnoea on exertion.
2. Worsening left ventricular function, such as low ejection fraction (in aortic regurgitation this is increased until late, severe disease intervenes) measured on a gated blood pool scan.
3. Progressive left ventricular dilatation on serial echocardiograms: left ventricular end-systolic dimension of >5.5 cm.
Valve area: 1.5–2.0 cm2. Significant stenosis at <1 cm2. In critical aortic stenosis, less than 0.7 cm2/m2 or a valve gradient >70 mmHg.
1. Degenerative senile calcific aortic stenosis (the most common cause in the elderly).
2. Rheumatic (rarely isolated).
3. Calcific bicuspid valve.
CLINICAL SIGNS OF SEVERITY
1. Plateau pulse.
The pulse character has been shown not to be useful in elderly patients; this fact may need to be put tactfully to the examiners.
2. Aortic thrill (very important sign of severe stenosis).
3. Length, harshness and lateness of the peak of the systolic murmur.
4. Fourth heart sound (S4).
5. Paradoxical splitting of the second heart sound (delayed left ventricular ejection and aortic valve closure).
6. Left ventricular failure (a late sign – right ventricular failure is preterminal).
RESULTS OF INVESTIGATIONS
1. ECG – left ventricular hypertrophy (systolic overload).
2. Chest X-ray film (see Fig 16.12):
FIGURE 16.12 Chest X-ray of a patient with calcific aortic stenosis; valve calcification is visible (arrow). Figure reproduced courtesy of The Canberra Hospital.
a. left ventricular hypertrophy
b. valve calcification.
3. Echocardiography (see Fig 16.13):
FIGURE 16.13 Echocardiography report for a patient with aortic stenosis.
a. Doppler estimation of gradient (note: Doppler estimation of peak gradient usually overestimates the value compared with cardiac catheterisation)
b. valve cusp mobility
c. left ventricular hypertrophy
d. left ventricular dysfunction.
INDICATIONS FOR SURGERY
1. Symptoms – exertional angina, exertional dyspnoea, exertional syncope (urgent).
2. Critical obstruction (based on catheterisation data) and severe left ventricular hypertrophy even if asymptomatic.
CHOICE OF VALVE
Tissue (bovine pericardial or porcine, or occasionally homograft) valves are usually offered to patients over the age of about 65 or to younger patients who wish to avoid warfarin. Their life expectancy before failing is up to 15 years or more.
Look for the following signs:
1. the JVP – large v waves: the JVP is elevated if right ventricular failure has occurred
2. palpation – right ventricular heave
3. auscultation – a pansystolic murmur, maximal at the lower end of the sternum and on inspiration, may be present, but the diagnosis can be made on the basis of the peripheral signs alone; multiple systolic clicks are characteristic of Ebstein’s anomaly of the tricuspid valve
4. abdomen – a pulsatile, large and tender liver is usually present; ascites and oedema with pleural effusions may also occur.
1. Functional (no disease of the valve leaflets) – right ventricular failure.
2. Rheumatic – only very rarely does tricuspid regurgitation occur alone; usually mitral valve disease is also present.
3. Infective endocarditis (right-sided endocarditis in intravenous drug abusers).
4. Congenital – Ebstein’s anomaly.
5. Tricuspid valve prolapse (rare).
6. Right ventricular papillary muscle infarction.
7. Trauma (usually a steering-wheel injury to the sternum).
RESULTS OF INVESTIGATIONS
The chest X-ray film may show right ventricular enlargement or biventricular enlargement if the tricuspid regurgitation is secondary to heart failure. Patients with Ebstein’s anomaly may have the characteristic box-shaped heart and narrow cardiac base (see Fig 16.14). Echocardiography enables detection of structural valve abnormality and estimation of the size of the regurgitant jet in the right atrium. Measurement of the velocity of this jet allows estimation of the pressure gradient across the valve. As right atrial pressure is usually 5–10 mmHg, the right ventricular pressure can be estimated in any patient with tricuspid regurgitation by adding 5 to this pressure gradient. Trivial tricuspid regurgitation is a common and normal Doppler echocardiogram finding.
FIGURE 16.14 Chest X-ray of a patient with Ebstein’s anomaly, showing a narrow cardiac pedicle. Figure reproduced courtesy of The Canberra Hospital.
Pulmonary stenosis (in adults)
Look for the following signs:
1. general signs
a. peripheral cyanosis because of a low cardiac output
b. the pulse – normal or reduced because of a low cardiac output
c. the JVP – giant a waves because of right atrial hypertrophy; the JVP may be elevated
d. palpation – right ventricular heave; thrill over the pulmonary area (common)
e. auscultation – the murmur may be preceded by an ejection click; a harsh ejection systolic murmur maximal in the pulmonary area and on inspiration is present; S4 may be present (owing to right atrial hypertrophy)
f. abdomen – presystolic pulsation of the liver may be present
2. signs of severe pulmonary stenosis
a. an ejection systolic murmur peaking late in systole
b. absence of an ejection click (also absent when the pulmonary stenosis is infundibular, i.e. below the valve level)
c. presence of S4
d. signs of right ventricular failure.
2. Carcinoid syndrome.
Chronic constrictive pericarditis
This is a difficult diagnosis, the clue is often that the patient appears cachectic and has ascites. Look for the following signs:
1. pulse and blood pressure – a low blood pressure and pulsus paradoxus are typical
2. JVP – this is raised; Kussmaul’s sign is rare; the x and y descents are prominent
3. apex beat – impalpable
4. heart sounds – these are distant; there may be an early third heart sound and an early pericardial knock (as rapid ventricular filling is abruptly halted)
5. hepatosplenomegaly, ascites and oedema provide important clues
6. underlying aetiology (e.g. radiation, tumour, tuberculosis, connective tissue disease, chronic renal failure, trauma).
It is always important to consider this diagnosis – it is a popular ‘trap’! The classical signs are as follows:
1. Pulse – this is typically sharp, rising and jerky, owing to rapid ejection by a hypertrophied ventricle early in systole, followed then by obstruction; it is not like the pulse of aortic stenosis.
2. The JVP – there is a prominent a wave owing to forceful atrial contraction against a non-compliant ventricle.
3. Apex beat – there is typically a double or triple impulse owing to presystolic ventricular expansion following atrial contraction.
a. late systolic ejection murmur (left sternal edge)
b. pansystolic murmur (apex) from mitral regurgitation
c. fourth heart sound.
Note: there are no diastolic murmurs.
5. Dynamic manoeuvres – the murmur is louder with the Valsalva manoeuvre, standing and isotonic exercise (e.g. jogging – not usually possible under examination conditions). The murmur is softer with squatting, raising the legs and isometric exercise (e.g. forceful handgrip).
RESULTS OF INVESTIGATIONS
a. left ventricular hypertrophy and lateral ST segment and T wave changes
b. deep Q waves
c. conduction defects.
2. Chest X-ray film:
a. left ventricle enlarged with a hump along the border
b. no valve calcification.
3. Echocardiography (see Fig 16.15):
FIGURE 16.15 Echocardiography report for a patient with hypertrophic cardiomyopathy.
a. asymmetrical hypertrophy (ASH) of the ventricular septum
b. systolic anterior motion (SAM) of the anterior mitral valve leaflet
c. midsystolic closure of the aortic valve
d. Doppler detection of mitral regurgitation
e. Doppler estimation of the gradient in the left ventricular outflow tract.
Non-cyanotic congenital heart disease
These are difficult examination cases that not infrequently crop up in the test.
ATRIAL SEPTAL DEFECT
There are two types (sinus venosus defects are not often seen in adults): ostium secundum and ostium primum.
ASD: ostium secundum
This is the most common and presents in adult life with:
1. fixed splitting of the second heart sound (note: unfortunately, an ASD is still a possible diagnosis when some variation in splitting is detectable during the respiratory cycle)
2. pulmonary systolic ejection murmur (increasing on inspiration)
3. pulmonary hypertension (late).
Results of investigations
a. right-axis deviation
b. right bundle branch block pattern
c. right ventricular hypertrophy (systolic overload).
2. Chest X-ray film (see Fig 16.16):
FIGURE 16.16 Chest X-ray of a patient with an ASD and right atrial and ventricular enlargement. The pulmonary arteries are very prominent (arrow). Figure reproduced courtesy of The Canberra Hospital.
a. increased pulmonary vasculature
b. enlarged right atrium and ventricle
c. dilated main pulmonary artery
d. small aortic knob.
a. paradoxical septal motion, right ventricular dilation
b. echo dropout in atrial septum
c. Doppler detection of a shunt at the atrial level
d. shunt (bubble) study using agitated saline
e. transoesophageal echocardiogram.
Indication for surgery
Almost all ASDs need to be closed surgically or if they are suitable with a percutaneous closure device when the left-to-right shunt is measured to be at least 1.5 to 1 (unless there is reversal of the shunt). A nuclear cardiac shunt study may help estimation of the shunt size.
ASD: ostium primum
This is an endocardial cushion defect adjacent to the atrioventricular valves. The signs are the same as for ostium secundum, but associated mitral regurgitation, tricuspid regurgitation or VSD is common. The ECG is particularly helpful as there is left-axis deviation and right bundle branch block (and sometimes a prolonged P–R interval). Look also for the presence of Down syndrome and skeletal upper limb defects (Holt-Oram syndrome).
VENTRICULAR SEPTAL DEFECT
The clues to the diagnosis of VSD are a thrill and a harsh pansystolic murmur confined to the left sternal edge. Sometimes mitral regurgitation is also present. Down syndrome is associated.
Results of investigations
The ECG and chest X-ray film may show left ventricular hypertrophy. The chest X-ray film may also show increased pulmonary vasculature and an enlarged right ventricle. The echocardiogram will show the defect and detect the shunt. Estimation of the pressure gradient between the ventricles will allow detection of right ventricular hypertension. As right ventricular pressure rises, the gradient across the defect falls (right ventricular pressure is closer to left ventricular) – a sign that the shunt is causing trouble.
Indication for percutaneous closure or surgery
Closure is indicated when the left-to-right shunt is moderate to large, with the pulmonary-to-systemic flow being >1.5 to 1. Often the presence of right ventricular dilatation is taken as a sign that the shunt is large.
PATENT DUCTUS ARTERIOSUS
In patent ductus arteriosus (PDA) there is a vessel from the bifurcation of the pulmonary artery to the aorta. The shunt is usually from the aorta to the pulmonary artery. Reversal of the shunt leads to differential cyanosis and clubbing (toes, not fingers). Often a continuous murmur is heard. Confusion with aortic stenosis and regurgitation commonly occurs when candidates examine these patients.
Results of investigations
1. The ECG may show left ventricular hypertrophy (diastolic overload).
2. The chest X-ray film may show:
a. increased pulmonary vasculature
b. calcification of the duct (trumpet-shaped calcification)
c. an enlarged left ventricle.
3. Doppler echocardiography will demonstrate continuous flow in the main pulmonary artery. Left atrial size will be increased.
Indication for surgery
The indication for surgery or use of a closure device (surgery for this condition in adults is difficult and is now largely replaced by the use of percutaneous catheter closure devices) is the diagnosis of PDA with more than a trivial shunt (unless there is pulmonary hypertension).
The detection of a trivial shunt at echocardiography in a patient with a PDA but without a significant murmur or any symptoms is not an indication for closure.
COARCTATION OF THE AORTA
The most common site for this lesion is just distal to the origin of the left subclavian artery. Look for a better developed upper body, radiofemoral delay, hypertension in the arms only, chest collateral vessels, a midsystolic murmur over the praecordium and back, and changes of hypertension in the fundi. Turner’s syndrome may be associated in some cases.
Results of investigations
1. The ECG may show left ventricular hypertrophy (systolic overload).
2. The chest X-ray film (see Fig 16.17) may show:
FIGURE 16.17 Chest X-ray showing coarctation of the aorta. Note the small aortic knuckle (1) and rib notching (2). Figure reproduced courtesy of The Canberra Hospital.
a. enlarged left ventricle
b. enlarged left subclavian artery
c. dilated ascending aorta
d. aortic indentation
e. aortic prestenotic and poststenotic dilation
f. rib notching – second to sixth ribs on the inferior border.
3. Echocardiography may show:
a. left ventricular hypertrophy
b. coarctation shelf in the descending aorta
c. abnormal flow patterns in the same area.
Cyanotic congenital heart disease
This is a very difficult area. You probably will not be expected to identify the exact lesion. A cardiac cause should be suspected if the patient shows clubbing and cyanosis.
The common causes of the problem in adults are:
1. Eisenmenger’s syndrome (Fig 16.18) – pulmonary hypertension plus a large communication between the left and right circulations (e.g. VSD, PDA, ASD)
FIGURE 16.18 Chest X-ray of a patient with Eisenmenger’s syndrome due to an untreated VSD: the pulmonary arteries are enormous centrally (arrow) but small in the periphery. Figure reproduced courtesy of The Canberra Hospital.
2. tetralogy of Fallot
3. complex lesions – univentricular heart, Ebstein’s anomaly (if there is an associated atrial septal defect with a right-to-left shunt).
You must decide while examining the patient whether pulmonary hypertension is present, as this distinguishes Eisenmenger’s syndrome from the tetralogy of Fallot.
This syndrome may be found in older adults who had right-to-left shunting before the availability of open-heart surgery. The physical signs may include cyanosis, clubbing and polycythaemia. The JVP pattern may have a dominant a wave and sometimes a prominent v wave. A right ventricular heave and a palpable pulmonary component of the second heart sound (P2) may be found. On auscultation there may be a loud P2 (S2 is split and the second component is loud), a fourth heart sound, a pulmonary ejection click, pulmonary regurgitation and sometimes tricuspid regurgitation (but there may be no murmurs). The signs all add up to pulmonary hypertension in a cyanosed patient.
To work out the level of the shunt, pay close attention to the second heart sound:
1. wide fixed split – ASD
2. single second sound – VSD
3. normal second sound or reversed splitting – PDA (look for differential cyanosis).
Despite traditional teaching, a loud P2 has little correlation with the presence of pulmonary hypertension, but a palpable P2 correlates well. It is said that a loud P2 is more a sign that a patient is thin than of anything else.
Results of investigations
1. The ECG may show:
a. right ventricular hypertrophy
b. P pulmonale.
2. The chest X-ray film (see Fig 16.18) may show:
a. right ventricular and right atrial enlargement
b. pulmonary artery prominence
c. increased hilar vascular markings but attenuated peripheral vessels
d. a heart that is not boot-shaped.
3. Echocardiography will define the anatomy and enable measurement of pulmonary pressures.
TETRALOGY OF FALLOT
There are four features:
2. right ventricular outflow obstruction (which determines severity)
3. overriding aorta
4. right ventricular hypertrophy.
The physical signs may include cyanosis, clubbing, polycythaemia, a right ventricular heave and a thrill at the left sternal edge, but not cardiomegaly. On auscultation there may be a single second heart sound (A2) and a short pulmonary ejection murmur.
Results of investigations
1. The ECG may show:
a. right ventricular hypertrophy
b. right-axis deviation.
2. The chest X-ray film (see Fig 16.19) may show:
FIGURE 16.19 Chest X-ray of a child with tetralogy of Fallot. Figure reproduced courtesy of The Canberra Hospital.
a. a normal-sized heart with a boot shape (i.e. a left concavity where the pulmonary artery is normally situated plus a prominent elevated apex)
b. right ventricular enlargement
c. decreased vascularity of lung vessels
d. right-sided aortic knob, arch and descending aorta (25%).
3. Echocardiography will demonstrate the anatomical abnormalities.
The hypertensive examination
‘This 30-year-old man has hypertension. Please examine him.’
1. Stand back and inspect the patient. Look for evidence of Cushing’s syndrome, acromegaly, polycythaemia and uraemia (see Table 16.6). If one of these is present, modify your examination appropriately.
Causes of hypertension
Note: Alcohol consumption and obesity are associated with essential hypertension.
2. Next, confirm that the blood pressure is elevated. Ask to measure it in both arms, and with the patient both lying and standing. Measurement in the legs in a young patient may be important.
3. Feel the radial pulse and very carefully feel for radiofemoral delay. Palpate for radial–radial asymmetry and inspect both hands for vasculitic changes.
4. Now look at the face. Inspect the conjunctivae for injection (polycythaemia), and then examine the fundi for hypertensive changes (see Table 16.7). Describe what you see when presenting, rather than just giving a grade (Fig 16.20).
Fundoscopy changes in hypertension
Above change plus arteriovenous nipping
Above changes plus haemorrhages (characteristically flame-shaped) and exudates: soft exudates, also called cotton wool spots, owing to ischaemia; hard exudates owing to lipid residues from leaky vessels
Above changes plus papilloedema
FIGURE 16.20 (a) Hypertensive retinopathy grade 3. Note the flame-shaped haemorrhages and cottonwool spots. (b) Hypertensive retinopathy grade 4. Note AV nipping, sliver wiring and papilloedema. N Talley, S O’Connor, Clinical examination, 7th edn. Figs 7.4, 7.5. Elsevier Australia, 2013, with permission. Courtesy of Dr Chris Kennedy and Prof. Ian Constable. Copyright Lion’s Eye Institute, Perth.
5. Examine the rest of the cardiovascular system, looking especially for left ventricular failure and coarctation of the aorta. Usually a fourth heart sound is present in severe hypertension.
6. The abdomen should be examined for renal masses, adrenal masses and an abdominal aneurysm. Auscultate for renal bruits (as a result of fibromuscular dysplasia or atheroma). These may have a diastolic component. Listen first just to the right or left of the midline above the umbilicus. Then sit the patient up and listen in the flanks (a systolic–diastolic bruit in the costovertebral area suggests a renal arteriovenous fistula).
7. At the end, ask for the results of urine analysis (signs of renal disease). Also remember that cerebrovascular accidents, secondary to hypertension, may cause other physical signs.
‘This 37-year-old man has a heart murmur. Please examine him.’
Fortunately, you notice a Marfanoid habitus.
1. While performing your normal cardiovascular examination, look also for the following signs.
a. Hands and arms. Look for arachnodactyly (spider fingers) and joint hypermobility, as well as long, thin limbs.
b. Face. You may notice a long and narrow face. Look for lens dislocation or lens replacement. The sclerae may be blue. Look in the mouth for a high-arched palate.
c. Chest. Note any pectus carinatum or excavatum.
d. Heart. Auscultate for aortic regurgitation and mitral valve prolapse. Also look for the signs of dissecting aneurysm or coarctation of the aorta.
e. Back. Look for kyphoscoliosis and hypermobility.
2. At the end, always ask to measure the arm span, which will exceed the height. The upper segment to lower segment ratio will be less than 0.85 (the upper segment is from the crown to the symphysis pubis and the lower segment is from the symphysis pubis to the ground).
1. Many of these patients will have had serial echocardiograms because the detection of progressive aortic root dilatation will warn of an increased risk of dissection before this occurs.
2. A slit-lamp examination may be required to diagnose lens dislocation.
‘This 70-year-old man has oedema. Please assess him.’
1. First, stand back and look at the patient. Note whether the oedema is localised or generalised and whether it is gravitational or not.
2. Assess nutrition quickly (as hypoalbuminaemia and also beri beri owing to vitamin B1 deficiency can cause oedema). Also, any obvious signs of myxoedema must never be missed.
3. If necessary, ask the patient to undress as appropriate and then further define the areas affected. Palpate for pitting. Proceed, depending on your findings (see Table 16.8).
Causes of oedema
PITTING LOWER LIMB OEDEMA
1. Define the extent of the oedema.
2. Look for signs of DVT (2 cm difference in calf swelling, prominent superficial veins and increased warmth have minor diagnostic value; Homans’ sign is unhelpful). Note the presence of varicose veins (a common cause of mild peripheral oedema) and the presence of vein-harvesting scars (for coronary artery surgery).
3. Feel the inguinal nodes. Go to the abdomen and look for abdominal wall oedema, prominent abdominal wall veins (inferior vena caval obstruction), ascites, any abdominal masses and evidence of liver disease. A pulsatile liver (tricuspid regurgitation) or malignant involvement should be particularly looked for.
4. Next examine the JVP. Then examine for signs of right ventricular failure and constrictive pericarditis. Feel all the node groups.
5. Finally examine for delayed ankle jerks (to exclude hypothyroidism) and look at the urine analysis. Remember that vasodilating drugs used for hypertension or angina are very common causes of oedema.
NON-PITTING LOWER LIMB OEDEMA
Consider the various causes, including lymphoedema (from malignant infiltration, congenital disease, filariasis, Milroy’s disease) and myxoedema.
SUPERIOR VENA CAVAL OBSTRUCTION (SEE Table 16.9, Fig 16.21)
Causes of superior vena caval obstruction
FIGURE 16.21 Superior vena cava obstruction in bronchial carcinoma. Note the swelling of the face and neck and the development of collateral circulation in the veins of the chest wall. L Goldman, A I Schafer. Goldman’s Cecil medicine, 24th edn. Fig 99.6. Elsevier, 2012, with permission.
1. The patient may appear Cushingoid, from either a tumour or treatment with steroids. Note the plethoric cyanosed face with periorbital oedema. There may be exophthalmos and conjunctival injection.
2. Examine the pupils: a mass in the chest may have caused Horner’s syndrome.
3. Examine the fundi for venous dilation. Examine the neck, which is enlarged. The JVP is raised, but the vein is not pulsatile.
4. Decide whether the thyroid gland is enlarged. Check Pemberton’s sign (p. 371, Fig 16.42).
FIGURE 16.42 (a) and (b) Positive Pemberton’s sign M H Swartz. FACP – Textbook of physical diagnosis: history and examination, 6th edn. Fig #1.#2Figs 9.14A and B, Elsevier, 2009, with permission.
5. Feel for supraclavicular lymphadenopathy and listen over the trachea for inspiratory stridor.
6. Examine the chest carefully for distended venous collaterals.
7. One or both arms may be oedematous.
8. Look for all the peripheral manifestations of lung carcinoma.
The respiratory system
The respiratory examination
‘This 69-year-old man presented with breathlessness. Please examine him.’
Method (see Table 16.10)
Respiratory system examination
HPO = hypertrophic pulmonary osteoarthropathy; SVC = superior vena cava.
1. If necessary, ask the patient to undress to the waist and sit over the side of the bed.
2. While standing back to make your usual inspection, ask whether sputum is available for you to look at. A large volume of purulent sputum is an important clue to bronchiectasis. Haemoptysis suggests lung carcinoma or pulmonary infection. Look for evidence of dyspnoea at rest and count the respiratory rate. Note the use of the accessory muscles of respiration and any intercostal indrawing of the lower ribs anteriorly (a sign of emphysema). General cachexia should also be noted.
3. Pick up the patient’s hands. Note clubbing (see Table 16.11), peripheral cyanosis, nicotine (actually, tar) staining and anaemia, and look for wasting of the small muscles of the hands and weakness of finger abduction (which may be caused by a lower trunk brachial plexus lesion from apical lung carcinoma involvement). Palpate the wrists for tenderness but only if there is clubbing (hypertrophic pulmonary osteoarthropathy (HPO), see Fig 16.27b and c). While holding the patient’s hand, palpate the radial pulse for tachycardia or obvious pulsus paradoxus.
Causes of clubbing
Note: Clubbing does not occur with COPD, sarcoidosis, extrinsic allergic alveolitis, coal worker’s pneumoconiosis or silicosis. With this important sign decide whether it is definitely present or absent. Don’t call it ‘early’ if in doubt.
FIGURE 16.27 (a) Recurrent carcinoma of the lung following right upper lobectomy. Note mass and rib destruction.
(b) Hypertophic pulmonary osteoarthropathy (HPOA) of the ulna in the same patient as in a. (arrow).
(c) HPOA of the tibia in the same patient as in (a) (arrows).
(d) CT scan of the chest showing a right upper lobe tumour – Pancoast tumour. (e) Chest X-ray of the same patient as in d showing right upper lobe tumour (arrow). Figure reproduced courtesy of The Canberra Hospital.
4. Go on to the face. Look closely at the eyes for ptosis and constriction of the pupils (Horner’s syndrome, p. 415). Inspect the tongue for central cyanosis.
5. Palpate the position of the trachea.
6. Note the presence of a tracheal tug, which indicates gross overexpansion of the chest with airflow obstruction. Ask the patient to cough and note whether this is a loose cough, a dry cough or, because of recurrent laryngeal nerve palsy, a bovine cough.
7. Next measure the forced expiratory time (FET). Tell the patient to take a maximal inspiration and blow out as rapidly and completely as possible. Note audible wheeze. Prolongation of expiration beyond 3 seconds is evidence of chronic airflow limitation. If you wish to impress the examiners use a peak flow meter – normal 600 L/min for young men and 400 L/min for women. Doing these two tests can appear very impressive, but it must look smooth and practised.
Always ask the patient to cough.
8. The next step is to examine the chest. You may wish to examine this anteriorly first or go around to the back. The advantage of the latter is that there are usually more signs there, unless the trachea is obviously displaced.
Deviation of the trachea is a most important sign, so spend time on it. If the trachea is displaced, concentrate on the upper lobes for physical signs. Upper lobe fibrosis causes tracheal deviation to the same side.
9. Inspect the back. Look for kyphoscoliosis. Do not miss ankylosing spondylitis (p. 405), which causes decreased chest expansion and upper lobe fibrosis. Look for thoracotomy scars and prominent veins. Also note any skin changes from radiotherapy.
A large thoracotomy scar in a patient who looks Cushingoid suggests the possibility of a lung transplant. A unilateral transplant may leave signs on the other side, such as the crackles of ILD (pulmonary fibrosis), while the side with the scar sounds normal.
10. Palpate the cervical nodes from behind. Then examine for expansion. First, upper lobe expansion is best seen by looking over the patient’s shoulders at clavicular movement during moderate respiration. The affected side will show a delay or decreased movement. Then examine lower lobe expansion by palpation. Note asymmetry and reduction of movement.
11. Ask the patient to bring his elbows together in front of him to move the scapulae out of the way. Examine for vocal fremitus. Then percuss the back of the chest and include both axillae. Do not miss a pleural effusion (see Table 16.12).
LDH = lactate dehydrogenase.
12. Auscultate the chest. Note breath sounds (whether bronchial or vesicular) and their intensity (normal or reduced) (see Table 16.13). Listen for adventitial sounds (crackles and wheezes) (see Table 16.14). Finally, examine for vocal resonance. If a localised abnormality is found, try to determine the abnormal lobe and segment.
Early inspiratory crackles: coarse – caused by COPD
13. Return to the front of the chest. Inspect again for chest deformity, symmetry of chest wall movement, distended veins, radiotherapy changes and scars. Palpate the supraclavicular nodes carefully. Palpate the apex beat and measure chest expansion. Then test for vocal fremitus and proceed with percussion and auscultation as before. Listen high up in the axillae too. Before leaving the chest, feel the axillary nodes and breasts.
If COPD seems likely, test for Hoover’s sign: place your hands along the costal margins with your thumbs close to the xiphisternum. Normally inspiration causes your thumbs to separate, but the overinflated chest of the COPD patient (Fig 16.22) cannot expand any further and so the diaphragm pulls the ribs and your thumbs closer together.
FIGURE 16.22 Barrel chest. N Talley, S O’Connor, Clinical examination, 7th edn. Fig 10.5. Elsevier, 2013, with permission. From F S McDonald (ed.) Mayo Clinic images in internal medicine, with permission. Copyright Mayo Clinic Scientific Press and CRC Press.
14. Ask the patient to lie down at 45° and then visually measure the JVP.
15. Examine the praecordium for signs of pulmonary hypertension and cor pulmonale. Finally, examine the liver and look for peripheral oedema. Check for Pemberton’s sign (p. 371).
16. Before leaving the patient, ask whether you may see the temperature chart.
Try to avoid finishing the examination by saying to the examiners, ‘I now want to know the results of spirometry and pulse oximetry’, as this may cause irritation.
Try to put the signs together. Common respiratory short cases include:
1. ILD (dry cough, crackles and clubbing)
2. bronchiectasis (loose cough, full sputum mug, coarse crackles and wheezes, clubbing)
3. COPD (overinflated chest, possible cyanosis, pursed lips breathing, reduced breath sounds and wheezes, Hoover’s sign)
4. pleural effusion (stony dullness, bronchial breathing on top, needle marks from previous aspirations)
5. thoracoplasty (gross unilateral chest deformity, big scar)
6. cystic fibrosis (often young patient with signs of bronchiectasis and cachexia)
7. treated carcinoma (sometimes clubbing, scar, radiotherapy marks, signs of effusion or collapse, lymph nodes).
Chest X-ray films
Hints on how to read a chest X-ray film (see Fig 16.23)
This is a valuable investigation and some even consider a chest X-ray as an extension of the physical examination. It is essential to be familiar with the various radiographic appearances. As a physician, you should feel personally responsible for viewing all the patient’s radiographs.
FIGURE 16.23 The lung segments. (a) PA view. (b) CT scan through lung bases. (c) Left lateral view. (d) Right lateral view.
Right upper lobe: ä = apical segment; a = anterior segment; p = posterior segment. Left upper lobe: ä-p = apico-posterior segment; a = anterior segment; sl = superior lingular segment; il = inferior lingular segment. Right lower lobe: äl = apical segment; mb = medial basal segment; lb = lateral basal segment; ab = anterior basal segment; pb = posterior basal segment. Left lower lobe: äl = apical segment; lb = lateral basal segment; ab = anterior basal segment; pb = posterior basal segment. The Canberra Hospital X-Ray Library, reproduced with permission.
1. When first viewing the chest radiograph, check:
a. film date, to ensure that it is current
b. type of film – posteroanterior (PA) or anteroposterior (AP) film; the latter (which may be labelled ‘portable’) magnifies heart size, making assessment of cardiac diameter difficult
c. correct orientation – the left side is most reliably determined by the position of stomach gas
d. film ‘centring’ – the medial ends of each clavicle should be equidistant from the spines of the vertebrae; rotation affects mediastinal and hilar shadows, causing undue prominence on the side opposite that to which the patient was turned.
2. Next, systematically examine the PA film, comparing right and left sides carefully for abnormalities of:
a. soft tissues (e.g. mastectomy, subcutaneous emphysema) and bony skeleton (e.g. rib fractures, malignant deposits)
b. tracheal displacement, paratracheal masses
c. heart size, borders and retrocardiac density
d. aorta and upper mediastinum (count the ribs, look for mediastinal shift, mediastinal masses – see Figs 16.23 and 16.24)
FIGURE 16.24 (a) and (b) Right upper lobe consolidation. The right upper lobe is opacified and is limited inferiorly by the horizontal fissure (arrows). There must be some collapse as well, as the fissure shows some elevation. Figures reproduced courtesy of The Canberra Hospital.
e. diaphragm (right higher than left by 1–3 cm normally), cardiophrenic and costophrenic angles
f. lung hila (left normally above right by up to 3 cm, usually no larger than an average thumb)
g. lung fields – upper zone (to lower border of second rib), midzone (from upper zone to lower border of fourth rib) and lower zone (from midzone to diaphragm)
i. gastric bubble (normally there should be no opacity >0.5 cm above the air bubble)
j. the presence of monitoring leads, a permanent or temporary pacemaker, central lines or other ‘hardware’.
Learn to do all this rapidly and accurately.
3. Finally, always ask to look at a lateral film. Examine it just as carefully. The lateral film is used to help decide the exact anatomical site of an abnormality.
Candidates must learn the normal position of the fissures (the horizontal fissure, seen sometimes on the PA and lateral film, is a fine horizontal line at the level of the fourth costal cartilage, whereas the oblique fissure is only seen sometimes on the lateral, beginning at the level of the fifth thoracic vertebra and running downwards to the diaphragm at the junction of its anterior and middle thirds).
The lung segments must also be memorised (see Fig 16.23). Remember, abnormalities in the lung fields are described by terms such as ‘mottling’, ‘opacity’ or ‘shadow’ – it is usually unwise to attempt to make a precise diagnosis of the underlying pathology in your initial assessment of the chest X-ray (see Table 16.15).
Differential diagnosis of radiological appearances in chest X-ray film
Some common radiological abnormalities
The following X-rays and scans (Figs 16.24–16.33) show some important changes associated with pulmonary disease.
FIGURE 16.25 (a) Right middle lobe bronchiectasis. Note the increased lung markings and the thickened bronchial walls (arrow). (b) CT scan of the chest of a patient with bronchiectasis. Note the thickened bronchial walls (arrow). Figures reproduced courtesy of The Canberra Hospital.
FIGURE 16.26 Right upper lobe fibrosis. Note the loss of volume and increased lung markings (arrow). Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.28 CT chest showing pulmonary haemorrhage in a patient with Goodpasture’s syndrome. Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.29 Retrosternal mass goitre (arrow). Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.30 Retrosternal mass thoracic aortic aneurysm (1) and pulmonary metastases (2). Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.31 (a) Chest X-ray showing Wegener’s granulomatosis. Note infiltrates and destructive changes.
(b) Lateral view. Note infiltrates and destructive changes. Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.32 Large left pleural effusion (arrow). Note previous left mastectomy. Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.33 (a) Sarcoidosis basal infiltrate (arrows). (b) Hilar lymphadenopathy (arrow). Figures reproduced courtesy of The Canberra Hospital.
The gastrointestinal system
The abdominal examination
‘This 60-year-old man has had episodes of abdominal discomfort. Please examine his abdomen.’
Method (see Table 16.16)
Gastrointestinal system examination
1. Position the patient correctly, with one pillow for the head and complete exposure of the abdomen.
2. Briefly look at the patient’s general appearance and inspect particularly for signs of chronic liver disease and renal disease.
3. Inspect the abdomen from the side, squatting to the patient’s level. Large masses may be visible. Ask the patient to take slow, deep breaths –an enlarged liver or spleen may be seen to move downwards during inspiration. Stand up and look for scars, distension, prominent veins, striae, bruising and pigmentation.
4. Palpate lightly in each quadrant for masses (see Tables 16.17–16.22). Ask first whether any particular area is tender (to avoid causing pain and also to obtain a clue to the site of possible pathology). Next palpate more deeply in each quadrant and then feel specifically for hepatomegaly and splenomegaly. A palpable liver may be a result of enlargement or ptosis. If there is hepatomegaly (see Table 16.17), confirm with percussion and estimate the span (normal span is approximately 12.5 cm). The same procedure is followed for splenomegaly (use a two-handed technique) (see Table 16.21). Percussion is useful to exclude splenomegaly (over the lowest intercostal space in the left anterior axillary line: if dull in full inspiration, suspect splenomegaly and palpate again1). Always roll the patient on to the right side and palpate again if no spleen is palpable. Be seen to watch the patient’s face intermittently for signs that the examination is uncomfortable.
Differential diagnosis in liver palpation
Causes of renal masses
Note: In very thin patients, bilateral renal enlargement owing to early diabetic nephropathy or nephrotic syndrome is occasionally detectable.
Adult polycystic kidneys
Note: Subarachnoid haemorrhage occurs in 3% of patients as a result of intracranial aneurysm. As this is an autosomal dominant condition, all family members of patients with polycystic kidney disease should be assessed for kidney disease. Cerebral aneurysms can be screened for in patients with kidney disease by MRI, in the absence of a previous history of subarachnoid haemorrhage.
Some other causes of abdominal masses
Causes of splenomegaly
Note: Secondary carcinomatosis is a rare cause of splenomegaly.
Causes of hepatosplenomegaly
5. Carefully feel for the kidneys bimanually. Remember that any left-sided mass may arise from a number of sites.
Bimanual palpation of the kidneys (balloting) will not work unless the hand under the patient is placed vertically (almost to the spine).
If you have found hepatosplenomegaly, always consider the possibility of associated polycystic kidneys (a common trap for young players in the test).
6. The usual distinguishing features of a spleen compared with a kidney are as follows.
a. The spleen has no palpable upper border.
b. The spleen has a notch.
c. The spleen moves inferomedially on respiration.
d. There is usually no resonance over a splenic mass.
e. The spleen is not bimanually palpable (i.e. not ballottable).
f. A friction rub may occasionally be heard over the spleen.
7. Percuss for ascites as a routine. If the abdomen is resonant out to the flanks on percussion, do not roll the patient over. Otherwise, look for shifting dullness. The technique is usually performed by percussing away from your side of the bed until you reach a dull note, then rolling the patient towards you and waiting at least a short time before percussing again for resonance.
8. Always auscultate briefly over the liver, spleen and renal areas. Listen for bruits, rubs and a venous hum. Note the presence of bowel sounds. An arterial systolic bruit over the liver is usually caused by either hepatocellular carcinoma or acute alcoholic hepatitis. A friction rub over the liver may be caused by tumour, recent liver biopsy, infarction or gonococcal perihepatitis (rather unusual); splenic rubs indicate infarction. A venous hum occurs uncommonly in portal hypertension.
If you are asked to examine the gastrointestinal system rather than the abdomen, begin by examining the hands and go on to the arms, face, chest, abdomen and legs as described (see Table 16.16).
9. Examine the groin next. Palpate for inguinal lymphadenopathy. Always ask if you may palpate the testes.
10. If you now suspect liver disease, you must go on and look for the peripheral stigmata of chronic liver disease. In this instance, it is probably better to proceed from the abdomen to the chest wall. Look for gynaecomastia, spider naevi (Fig 16.34), hair loss (in men) and breast atrophy (in women). Examine the breasts if you suspect intra-abdominal malignant disease.
FIGURE 16.34 Chronic liver disease (spider naevi). J J Kanski. Clinical ophthalmology: a synopsis, 2nd edn. Fig 24.23. Elsevier, 2009, with permission.
a. Now sit the patient at 45° and measure the JVP so as not to miss constrictive pericarditis as a cause of cirrhosis. Palpate anteriorly for supraclavicular nodes, then sit the patient forwards and feel posteriorly for the other cervical nodes. Look at the back for sacral oedema and spider naevi. If ascites is present, examine the chest for pleural effusions.
b. Look at the face next. Note any scleral abnormality (jaundice, anaemia or iritis) and look at the corneas for Kayser-Fleischer rings. Xanthelasma are common in patients with advanced primary biliary cirrhosis. Feel for parotid enlargement, which may be present soon after an acute alcoholic binge. Inspect the mouth with a torch and spatula for angular stomatitis, ulceration and atrophic glossitis. Smell the breath for fetor hepaticus.
c. Look at the arms for bruising and spider naevi. Next examine the hands. Ask the patient to extend his arms and hands and look for evidence of hepatic flap. Look also at the nails for clubbing and white nails (leuconychia) (Fig 16.36), and note any palmar erythema and Dupuytren’s contractures (the latter are associated with alcohol or trauma) (Fig 16.35b). The arthropathy of haemochromatosis may also be present (a degenerative arthritis that particularly involves the second and third metacarpophalangeal joints).
FIGURE 16.35 (a) Dupuytren’s contracture of the foot. (b) Dupuytren’s contracture of the hand.
FIGURE 16.36 Liver nails (leuconychia). Clinics in Dermatology, Fig 3. May/June 2008. 26(3):296–305.
d. Next examine the legs for oedema, bruising and any rashes. If you have found Dupuytren’s contractures in the hands, look for similar tendon thickening and shortening on the soles of the feet (Fig 16.35); Dupuytren’s contracture of the foot. Look for the nervous system signs of alcoholism – namely, peripheral neuropathy, proximal myopathy, cerebellar syndrome, Wernicke’s encephalopathy (bilateral VI nerve palsies) and Korsakoff’s psychosis.
Do not hurt the patients while examining them.
e. Candidates are almost always stopped well before this stage. Do not forget to ask to perform a rectal examination and urine analysis. Also ask to look at the temperature chart. Ask whether you may further examine for hernias by asking the patient to stand and cough.
11. If, on the other hand, you have found signs consistent with a haematological problem, proceed as described in that section.
12. If you find a pulsatile liver, examine the cardiovascular system and particularly note any other signs of tricuspid regurgitation.
13. If an enlarged kidney is present (see Table 16.19), ask to check the blood pressure and the urine.
14. If malignant disease is suspected, examine all the node groups, the lungs and the breasts after a thorough abdominal examination. Non-haematological malignant disease that causes hepatomegaly rarely leads to splenomegaly unless the portal vein is directly involved.
Haemochromatosis, an autosomal recessive disorder, is an important cause of liver disease. Consider this diagnosis if any of the following signs are present:
• pigmentation (bronze)
• arthropathy (typically degenerative arthritis of the MCP joints of the index and middle fingers, but any other joint may be involved; pseudogout may occur)
• testicular atrophy (owing to iron deposition in the pituitary gland)
• dilated cardiomyopathy
• glycosuria (as a result of diabetes mellitus).
The haematological system
The haemopoietic examination
‘This 75-year-old man has had problems with tiredness. Please examine his haemopoietic system.’
Method (see Table 16.23)
Haematological system examination
1. If necessary, position the patient as for a gastrointestinal examination. Make sure he is fully undressed. Look for bruising, pigmentation, cyanosis, jaundice, scratch marks (owing to myeloproliferative disease or lymphoma) and leg ulceration (see below). Also note the presence of frontal bossing and the racial origin of the patient (thalassaemia is more common in people of Asian or Greek background).
2. Pick up the patient’s hands. Look at the nails for koilonychia (spoon-shaped nails, which are rarely seen today and which indicate iron deficiency) and the changes of vasculitis. Pale palmar creases indicate anaemia (usually the haemoglobin level is <90 g/L). Evidence of arthropathy may be important – for example, rheumatoid arthritis and Felty’s syndrome, recurrent haemarthroses in bleeding disorders or secondary gout in myeloproliferative disorders.
3. Examine the epitrochlear nodes. Do this by placing your palm under the patient’s elbow – your thumb will be placed over the appropriate area (proximal and slightly anterior to the medial epicondyle). A palpable node is usually pathological and may indicate non-Hodgkin’s lymphoma. Note any arm bruising. Remember petechiae (Fig 16.37) are pinhead haemorrhages, whereas ecchymoses are larger bruises. Palpable purpura suggests vasculitis, dysglobulinaemia or bacteraemia.
FIGURE 16.37 Petechiae. J G Marks, J J Miller. Lookingbill and Marks’ principles of dermatology, 4th edn. Fig 17.1. Saunders, Elsevier, 2006, with permission.
4. Go to the axillae and palpate the axillary nodes. Do this by raising the patient’s arm and placing your fingers as high as possible in the axilla. Then position the patient’s forearm comfortably over your own forearm. Use your left hand for the patient’s right axilla, and vice versa. There are four main areas: central, lateral (above and lateral), pectoral (most medial) and subscapular (most inferior).
5. Look at the patient’s face. Inspecting the eyes, note jaundice, pallor or haemorrhage of the sclera, or the injected sclera of polycythaemia.
Anaemia is most accurately detected by pulling down one of the patient’s lower eyelids and comparing the colour of the anterior part of the conjunctiva with the pearly white of the palpebral conjunctiva more posteriorly. The anterior conjunctiva should be distinctly more red in colour unless significant anaemia (<100 g/L) is present.
6. Examine the mouth. Note gum hypertrophy (differential diagnosis includes acute myeloid leukaemia – especially monocytic – and scurvy), ulceration, infection (e.g. Candida), haemorrhage, atrophic glossitis (secondary to iron, vitamin B12 or folate deficiency) and angular stomatitis. Look for tonsillar and adenoid enlargement (Waldeyer’s ring).
7. Now sit the patient up. Examine the cervical nodes from behind (Fig 16.39). There are seven groups: submental, submandibular, jugular chain, posterior triangle, postauricular, preauricular and occipital. Then feel the supraclavicular area from the front. Tap the spine with your fist for bony tenderness (which can be caused by an enlarging marrow – e.g. in myeloma, carcinoma). Also gently press the sternum, clavicles and shoulders for bony tenderness.
FIGURE 16.39 Supraclavicular lymphadenopathy.
8. Lay the patient flat again. Examine the abdomen, particularly for splenomegaly (see Table 16.21) and hepatomegaly (see Tables 16.17 and 16.22).
9. Spring the hips for pelvic tenderness.
10. Palpate the inguinal nodes. There are two groups – along the inguinal ligament and along the femoral vessels. Remember to feel the testes and ask to do a rectal examination (e.g. for melaena).
11. Examine the legs. Note particularly leg ulcers, which may occur with hereditary spherocytosis, sickle cell syndromes, thalassaemia, macroglobulinaemia and Felty’s syndrome. Ask to examine the legs from a neurological aspect for evidence of vitamin B12 deficiency. Remember, hypothyroidism and lead poisoning can cause anaemia and peripheral neuropathy. Do not miss Henoch-Schönlein purpura over the buttocks and legs (Fig 16.41).
FIGURE 16.41 Henock-Schönlein purpura. N Talley, S O’Connor, Clinical examination, 7th edn. Fig 21.15. Elsevier, 2013, with permission. From F S McDonald (ed.) Mayo Clinic images in internal medicine, with permission. Copyright Mayo Clinic Scientific Press and CRC Press.
12. Finally, ask to examine the fundi (engorged retinal vessels, papilloedema, haemorrhages etc.) (Fig 16.40a and b) and look at the temperature chart. Causes of generalised lymphadenopathy are presented in Table 16.24.
Causes of generalised lymphadenopathy
FIGURE 16.38 Plethora. A V Hoffbrand, J E Pettite. Color atlas of clinical hematology, 3rd edn. p. 248. Mosby, Elsevier, 2000, with permission.
1. Lymphoma (rubbery and firm)
2. Leukaemia (chronic lymphocytic leukaemia, acute lymphoblastic leukaemia particularly)
3. Malignant disease (metastases or reactive changes usually causing asymmetrical, very firm nodes)
4. Infections – viral (e.g. cytomegalovirus, HIV, infectious mononucleosis (glandular fever)), bacterial (e.g. tuberculosis, brucellosis), protozoal (e.g. toxoplasmosis)
5. Connective tissue diseases – rheumatoid arthritis, SLE
6. Infiltrations – sarcoidosis
7. Drugs – phenytoin (pseudolymphoma)
FIGURE 16.40 Fundus changes in haematological disorders (a) ‘Leopard skin’ appearance due to choroidal infiltration in chronic leukaemia.
(b) Retinal and gross venous dilatation and segmentation in hyperviscocity. J J Kanski, Retinal vascular disease. Clinical opthalmology: a systematic approach. Elsevier, 2011, with permission.
The endocrine system
The thyroid gland
‘This 40-year-old woman has noticed some discomfort in her neck. Please examine her.’
Method (see Table 16.25)
The most likely problem is thyroid disease, but in the neck examination you should also consider the possibilities of superior vena caval obstruction, cervical lymphadenopathy, carotid aneurysm or bruit, JVP abnormalities and tracheal deviation.
1. Take time first to look at the face for signs of thyrotoxicosis or myxoedema (see below).
2. With the patient sitting up and the neck fully exposed, inspect for scars, swelling and prominent veins. Look at the front and the sides. Ask the patient to swallow a sip of water and look for thyroid enlargement. The thyroid moves up with swallowing.
3. Palpate gently from behind, with the neck flexed, feeling for any thyroid mass (see Table 16.26). Use one hand to steady the gland and the other to feel. Note the shape, consistency and distribution of the thyroid enlargement. If a nodule is palpable, determine whether this is single or part of a multinodular goitre. Ask the patient whether the gland is tender (a clue to subacute thyroiditis) and note any hoarseness of the voice (which may be caused by recurrent laryngeal nerve palsy). Decide whether you can palpate the lower border of the gland (to exclude retrosternal extension) and whether there is a thrill. Feel for cervical lymphadenopathy from behind. Palpate each carotid artery (absence possibly indicating malignant infiltration). Test the sternocleidomastoid function, as malignant disease may infiltrate this muscle. Finally, palpate the gland from in front and note the tracheal position.
Causes of a diffuse goitre (Fig 16.43)
4. Percuss over the upper part of the manubrium from one side to the other, right across the bone, and note any change from resonant to dull (a sign of retrosternal extension).
5. Auscultate over the thyroid gland for bruits (a sign of active thyrotoxicosis) and also over the carotid arteries. A systolic flow murmur is common when patients are thyrotoxic.
6. Remember Pemberton’s sign. Ask the patient to lift her arms over her head. Look for suffusion of the face, elevation of the JVP and inspiratory stridor. Any retrosternal mass may cause these changes.
7. If there is evidence of a goitre and obvious eye disease (indicating the presence of thyrotoxicosis; see Table 16.27), proceed to the face. Examine the eyes for exophthalmos by noting the presence of sclera below the cornea when the patient is looking straight ahead. Note lid retraction by looking for the presence of sclera above the cornea. Then test for lid lag by asking the patient to follow your finger descending at a moderate rate. Now examine the conjunctiva for chemosis.
Causes of thyrotoxicosis
Note: The three components of Graves’ disease – viz. eye signs, hyperthyroidism with goitre and pretibial myxoedema – run independent courses.
8. Test eye movements for ophthalmoplegia. The inferior oblique muscle power is lost first, then convergence is affected, followed by the other muscles in thyrotoxicosis. Examine the fundi because optic atrophy can occur late. Then look from behind, over the patient’s forehead, when she is looking forward, for proptosis.
9. Examine the patient’s outstretched hands for tremor. It is worthwhile placing a sheet of paper over the dorsal aspects of the fingers. Look at the nails for onycholysis (Plummer’s nails) – distal separation of the nail from its bed – and thyroid acropachy (this looks like clubbing and is clubbing, but is not called clubbing!). Note any palmar erythema. Feel for warmth and sweating. Feel the radial pulse for sinus tachycardia, atrial fibrillation or a collapsing pulse.
10. Test for proximal myopathy in the arms and tap the arm reflexes for briskness.
11. If there is time, proceed to the legs and look for skin manifestations: pretibial myxoedema – bilateral firm, elevated dermal nodules and plaques that can be pink, brown or skin-coloured and that are caused by mucopolysaccharide accumulation – and vitiligo. Test for proximal myopathy and hyperreflexia in the legs.
12. Ask to examine the chest for evidence of gynaecomastia (in men) and the heart for an ejection systolic murmur and signs of congestive cardiac failure.
13. Although it is rarely of importance, there may also be mild splenomegaly and hepatomegaly on abdominal examination, as well as generalised lymphadenopathy.
14. If a thyroidectomy scar is present, ask to look for the signs of hypocalcaemia (i.e. Chvostek’s and Trousseau’s signs). Chvostek’s sign may be present in normal patients. It is tested by tapping over the facial nerve 3–5 cm below and in front of the ear. The facial muscle twitches briefly in the presence of hypocalcaemia. Trousseau’s sign is tested by pumping up a sphygmomanometer cuff above systolic blood pressure and looking for main d’accoucheur (a strongly adducted thumb with fingers extended except at the MCP joints) that occurs within 2 minutes.
15. If you suspect hypothyroidism (when goitre is unusual) (see Table 16.28), proceed as follows.
Causes of hypothyroidism
a. Examine the hands. Note peripheral cyanosis, swelling and dry, cold skin. Look at the palmar creases for anaemia (see Table 16.29). Feel the pulse for bradycardia and a small volume. Test for carpal tunnel syndrome. Ask the patient to flex both wrists for 30 seconds – paraesthesiae will often be precipitated in the affected hand if the carpal tunnel syndrome is present (Phalen’s wrist flexion test).
Causes of anaemia in patients with hypothyroidism
b. Test for delayed relaxation of the biceps jerk. Examine for proximal myopathy, which is rare.
c. Proceed to the face. Note here any general swelling and periorbital oedema. Look for loss of the outer one-third of the eyebrows and periorbital xanthelasma. Note whether the skin is dry, fine and smooth. There may be signs of carotenaemia, alopecia or vitiligo. Look at the tongue, which may be swollen, then ask the patient to tell you her name and address and note any hoarseness or slowness of speech. Test for nerve deafness, which may be bilateral.
d. Go to the legs next. Examine them neurologically, starting with the ankle jerks, noting particularly any evidence of slow relaxation, which is best seen with the patient kneeling on a chair. Then examine for peripheral neuropathy and look for other uncommon neurological abnormalities (see Table 16.30).
Neurological associations of hypothyroidism
e. Finally ask to examine the chest for pleural and pericardial effusions. There may be dry, rough ‘sandpaper-like’ skin over the chest.
‘This 35-year-old woman has lost her libido. Please assess her.’
You cleverly note that this woman looks ‘panhypopituitary’ (see Table 16.31, Fig 16.44). Proceed as follows.
Causes of panhypopituitarism
ACTH = adrenocorticotrophic hormone; FSH = follicle-stimulating hormone; LH = luteinising hormone; TSH = thyroid-stimulating hormone.
FIGURE 16.44 Panhypopituitarism. (a) Short stature, reduced body hair and increased abdominal fat are apparent. (b) Partial breast development results from estrogen replacement. Failure of adrenal androgen production results in the absence of axillary hair. F F Ferri.Ferri’s color atlas and text of clinical medicine, 1st edn. Fig 263.2. Saunders, Elsevier, 2009, with permission.
1. Ask her to stand and make sure she is fully undressed. Note the pale skin and lack of hair.
2. The patient may be of short stature (failure of growth hormone secretion before growth is complete) with no secondary sexual characteristics (gonadotrophin failure before puberty).
3. Look at the face more closely. Multiple fine skin wrinkles around the eyes and mouth are characteristic of growth hormone deficiency. Look closely for a hypophysectomy scar on the forehead near the inner canthus of the eye. Examine the eyes for signs of a pituitary tumour (visual fields, especially for bitemporal hemianopia, fundi for optic atrophy) and assess cranial nerves III, IV and VI, as well as the first division of V (affected by tumour extension into the cavernous sinus). Feel the facial hair over the chin area.
4. Go to the chest and look for decreased body hair, pale skin and gynaecomastia. Lay the patient down and look for loss of pubic hair and testicular atrophy (in males testes are small and soft – the normal size is 15–25 mL in volume).
5. Test the ankle jerks (for slow relaxation in hypothyroidism – there is no myxoedematous appearance) and ask to check the blood pressure lying and standing (hypotension with adrenocorticotrophic hormone (ACTH) deficiency).
‘This 56-year-old woman has noted weight gain. Please examine her.’
Method (see Table 16.32)
This type of introduction may mean Cushing’s syndrome in the clinical examination (Figs 16.45a–c). Make sure that the patient is undressed to her underpants and ask her to stand.
Cushing’s syndrome examination
FIGURE 16.45 Cushing’s syndrome (a) Moonface. (b) Buffalo hump. (c) Abdominal striae. C M Townsend. Sabiston textbook of surgery: the biological basis of modern surgical practice, 18th edn. Fig 39.11. Saunders, Elsevier 2007, with permission.
1. Look at the patient from the front, sides and behind. Note central obesity with peripheral sparing and look at the skin for bruising, atrophy and pigmentation of extensor areas. Hyperpigmentation suggests an ectopic ACTH-secreting tumour, or it may indicate an ACTH-secreting pituitary adenoma in a patient who has had a bilateral adrenalectomy (Nelson’s syndrome).
2. Test for proximal myopathy of the arms and also of the legs (initially by getting the patient to squat). Examine the back for a buffalo hump and feel it. Look for kyphoscoliosis and tap the spine for bony tenderness as a result of osteoporotic vertebral crush fractures.
3. Ask the patient to sit on the side of the bed. Look at the face for plethora, hirsutism, acne, telangiectasia and a moon shape.
4. Test the eyes for visual field defects (which are uncommon) and look in the fundi for papilloedema (caused by benign intracranial hypertension or a pituitary tumour) and optic atrophy, as well as hypertensive or diabetic changes (see Tables 16.7 and 16.41). Then look at the neck for supraclavicular fat pads and acanthosis nigricans.
Diabetes mellitus examination
5. Ask the patient to lie down. Examine the abdomen for adrenalectomy scars, pigmentation, striae and adrenal masses. Look at the genitalia. Virilisation in women or gynaecomastia in men suggests that adrenal carcinoma is more likely. Next look at the legs for oedema, bruising and poor wound healing.
6. Do not forget to ask for the results of urine analysis (glucose) and take the blood pressure (hypertension). Diagnostic tests are summarised in Table 16.33.
Diagnosis of Cushing’s syndrome*
To diagnose Cushing’s syndrome, at least two definitive tests should be abnormal
Note: If Cushing’s disease is present, pituitary assessment is necessary. If adrenal disease is suspected, CT scanning is useful to assess the anatomy. Remember, ectopic ACTH production by a tumour (e.g. small cell carcinoma of lung, carcinoid of lung or thymus, pancreatic islet cell carcinoma, ovarian carcinoma) does not usually cause Cushingoid clinical features but may present with hyperpigmentation, hypokalaemic alkalosis and hypertension.
*Cushing’s disease is specifically pituitary ACTH overproduction
‘This 64-year-old man has noted some change in his facial appearance. Please examine him.’ (Figs 16.46a to c)
FIGURE 16.46 (a) Acromegalic hands. (b) Macroglossia. (c) This patient has conveniently brought his rings with him.
Method (see Table 16.34)
The order and direction of the examination obviously depend on the stem. However, if a ‘change of appearance’ of any part of the body is mentioned in the stem it is likely you are expected to make a spot diagnosis. Look very carefully at the patient before deciding where to examine.
The change to a written stem has led to variations on this introduction. At one end of the spectrum the examiners may give the diagnosis: ‘This 64-year-old man has acromegaly. Please examine him to assess the extent and activity of the condition.’ At the other end of the spectrum the introduction may be more oblique: ‘This 64-year-old man has had premature and severe arthritis. Please examine his knees.’
1. Consider the possible diagnostic facies (see Table 16.35). If the patient looks acromegalic, proceed as follows.
Common diagnostic facies
2. Have the patient stand or sit on the side of the bed. Look at the hands. Look for coarse features and spade-like shape, as well as increased sweating and warmth. Osteoarthritis-like changes are frequent in the hands, shoulders, hips and knees. Perform Phalen’s wrist flexion test for the carpal tunnel syndrome (median nerve entrapment). Feel the ulnar nerve for thickening at the elbow.
3. Go to the arms and test for proximal myopathy. Also look in the axillae for skin tags (molluscum fibrosum), greasy skin and acanthosis nigricans (brown-to-black velvety elevation of the epidermis owing to multiple confluent papillomas).
4. Go on to the face. Look for frontal bossing as a result of a large supraorbital ridge (which may also occur in rickets, Paget’s disease, hydrocephalus or achondroplasia). Note whether there is a large tongue (sometimes too big to fit into the mouth neatly). Enlargement of the lower jaw (called prognathism) and splaying of the teeth may be present. Notice any acne or hirsutism in women (see Table 16.44) and test the voice, which may be deep, husky and resonant.
5. The eyes must be carefully examined. Visual fields should be checked – look particularly for bitemporal hemianopia, but many field defects are possible (see Fig 16.86). Examine the fundi for optic atrophy, papilloedema and angioid streaks (red, brown or grey streaks three to five times the diameter of the retinal veins appearing to emanate from the optic disc and owing to degeneration of Bruch’s membrane with resultant fibrosis). There may also be diabetic or hypertensive changes.
FIGURE 16.86 Visual field defects associated with lesions of the visual system.
Causes of angioid streaks (PASH)
Paget’s disease, pseudoxanthoma elasticum (Fig 16.47), poisoning (lead)
FIGURE 16.47 Pseudoxanthoma elasticum. Plucked chicken skin appearance on neck is characteristic of pseudoxanthoma elasticum. M Yanoff, J S Duker, J J Augsburger et al. Ophthalmology, 3rd edn. Fig 6-35-7. Elsevier, 2009, with permission.
Sickle cell anaemia
6. Examine the thyroid gland for diffuse enlargement or a multinodular goitre.
7. Examine the cardiovascular system for signs of congestive cardiac failure, the abdomen for organomegaly – of liver, spleen and kidney – and for signs of hypogonadism (secondary to an enlarging pituitary adenoma).
8. Examine the lower limbs for osteoarthritis and pseudogout. Large osteophyte formation and ligamentous laxity are common features. Also look for foot drop (entrapment of common peroneal nerve) and heel pad thickening.
9. If there is time, look for evidence of hypothyroidism and adrenocortical insufficiency (from an enlarging pituitary adenoma).
10. Do not forget to ask for the results of a urine analysis to exclude glycosuria secondary to glucose intolerance and take the blood pressure (hypertension is an association). Decide whether the acromegaly is active (see Table 16.36). Ask whether any photographs taken of the patient over the years are available for inspection (typically, manifestations begin in middle age). See Table 16.37 for the diagnostic evaluation.
Evidence of activity in acromegaly
Diagnosis of acromegaly
‘This 65-year-old woman has weakness, anorexia and weight loss. Please assess her.’
Fortunately, you suspect Addison’s disease.
1. Ensure the patient is appropriately undressed and look for pigmentation (Fig 16.48) (particularly in the palmar creases, elbows, gums and buccal mucosa, genital areas and scars) and vitiligo (Fig 16.49), owing to an autoimmune disease association. Ear lobe calcification occurs rarely.
FIGURE 16.48 Hyperpigmentation in Addison’s disease compared with a normal patient. W D James. Andrews’ diseases of the skin: clinical dermatology, 11th edn. Fig 24.3. Saunders, Elsevier, 2011, with permission.
FIGURE 16.49 Vitiligo. R A Spritz. The genetics of generalised vitiligo and associated autoimmune diseases. Journal of Dermatological Science, 2006. 41(1):3–10, Fig 1.
2. Take the blood pressure and test for a postural drop. Ask for the results of a urine analysis, as diabetes is associated with Addison’s disease. Remember that the rest of the autoimmune cluster may also be associated (see Table 16.38) and consider the possible causes (see Table 16.39). Diagnostic tests are summarised in Table 16.40.
Primary ovarian failure
Diabetes mellitus (type 1)
Causes of Addison’s disease (chronic adrenal insufficiency)*
*Acute adrenal insufficiency may follow any stress in a patient with chronic hypoadrenalism or abrupt cessation of prolonged high-dose steroid therapy.
Diagnosis of Addison’s disease
‘This 70-year-old woman has diabetes. Please examine her (or her legs or eyes).’
Method (see Table 16.41)
1. General inspection may reveal a characteristic facial appearance (e.g. Cushing’s syndrome or acromegaly) or pigmentation (e.g. haemochromatosis), which will modify the examination approach. Otherwise, expose the patient’s legs. This is the only case in which there is an advantage in starting at the legs.
2. Look for necrobiosis lipoidica over the shins (a central yellow scarred area with a surrounding red margin, if active, owing to atrophy of subcutaneous collagen – it is rare) (Fig 16.50), pigmented scars, skin atrophy, small rounded plaques with raised borders lying in a linear fashion over the shins (diabetic dermopathy), ulceration and infection. Look at the thigh for injection sites, fat atrophy (owing to the use ofimpure insulin) or fat hypertrophy (owing to repeated injections into the same site, which leads to scarring and hypertrophy) and quadriceps wasting, from femoral nerve mononeuritis – called (inaccurately) diabetic amyotrophy.
FIGURE 16.50 Necrobiosis lipoidica diabeticorum. W D James et al. Andrews’ diseases of the skin, 11th edn. Fig 26.29. Elsevier, 2011, with permission.
3. Inspect the feet and toes very carefully. Look for loss of hair, skin atrophy and blue, cool feet (small vessel vascular disease), ulcers and foot deformity. Feel all the peripheral pulses and note capillary return. Feel for pitting oedema. Auscultate over the femoral artery for bruits.
4. Test proximal muscle power and test the reflexes. Assess for peripheral neuropathy, including dorsal column loss – called diabetic pseudotabes (p. 451). Charcot’s joints (see Fig 16.51) (owing to proprioceptive loss) may be present. (Note: Neuropathic joint disease: sensory loss (e.g. from diabetes, tabes dorsalis, amyloidosis, leprosy, meningomyelocele) allows repeated joint trauma, producing bony overgrowth, synovial effusion and joint distortion and instability.)
FIGURE 16.51 (a) and (b) Gross destructive changes in the ankle joints in a patient with diabetic neuropathy – Charcot’s joints. Figure reproduced courtesy of The Canberra Hospital.
5. Go to the upper limbs. Look at the nails for Candida infection. Feel the upper arm injection sites. Ask for the blood pressure and take the pulse lying and standing to detect autonomic neuropathy (see Table 16.42).
6. Now examine the eyes for visual acuity. Remember, episodes of poor control cause lens abnormalities acutely. Look for Argyll Robertson pupils (which are rare). Remember, a diabetic third nerve palsy is usually pupil sparing – infarction affects the inner more than the outer fibres, whereas compressive lesions affect the outer fibres first and so involve the pupil early.
7. Look in the fundi (see Table 16.43). While performing fundoscopy, also note the presence of cataracts and any new blood vessel formation over the iris (rubeosis).
Features of diabetic retinopathy (see Fig 16.52)
8. Always test the III, IV and VI cranial nerves and remember that other cranial nerves may be affected. Periorbital and perinasal swelling with gangrene can occur with rhinocerebral mucormycosis, an opportunistic fungal infection.
9. Look in the mouth for Candida and other infections.
10. Look in the ears for infection (e.g. malignant otitis externa caused by Pseudomonas aeruginosa).
11. Feel and auscultate the carotid arteries.
12. Examine for hepatomegaly as a result of fatty infiltration and then ask for the results of urine analysis with respect to glucose and protein.
13. There may be signs of chronic kidney disease with advanced diabetes.
14. Ask whether you may weigh the patient.
A diagnostic approach is summarised in Table 16.44.
The rheumatological system
In this section only the common joints that are encountered in the examination are discussed.
These rheumatological examinations are ripe for new more subtle stems related to assessment of function. The examiners may assume the diagnosis is obvious.
‘This 67-year-old woman has arthritis. Please examine her hands.’ (Fig 16.54)
FIGURE 16.54 Arthritic hands (rheumatoid arthritis).
Method (see Table 16.45)
When you are asked to examine the hands consider the possibilities of arthropathy, acromegaly, a peripheral nerve lesion, a myopathy or a neuropathy. If there is obvious joint disease, examine as follows.
FIGURE 16.53 Porphyria cutanea tarda. P Yachimski, N Shah, R T Chung. Clinical gastroenterology and hepatology, 2007. 5(2):6, Fig 1.
Sitting up (hands on a pillow)
1. GENERAL INSPECTION
Iritis, scleritis, etc.
Obvious other joint disease
Skin – scars, redness, atrophy, rash, scleroderma (sclerodactyly) –
Swelling – distribution
Swelling – distribution
Deformity – ulnar deviation, volar subluxation etc.
Proximal and distal interphalangeal joints
Swelling – distribution
Deformity–swan necking, boutonnière (Fig 16.58), Z, sausage-shaped etc.
Psoriatic changes – pitting, ridging, onycholysis, hyperkeratosis, discolouration
Skin – scars, palmar erythema (Fig 16.55), palm creases (anaemia), discolouration
3. FEEL AND MOVE PASSIVELY
Range of movement
Ulnar styloid tenderness
Range of movement
Proximal and distal interphalangeal joints
Palmar tendon crepitus
Carpal tunnel syndrome tests
4. HAND FUNCTION
Elbows – subcutaneous nodules, psoriatic rash
Signs of systemic disease
1. First make the patient comfortable, expose as much of the hands and forearms as possible and place the patient’s hands on a pillow, palms down. You may talk as you go. We believe this is the best way to proceed with a joint examination. However, also practise examining this sort of case by presenting at the end of the examination. Be gentle while examining – do not hurt the patient.
2. If the patient has arthropathy with an obvious rheumatoid distribution, start by stating that the patient has a symmetrical deforming polyarthropathy involving the wrists and hands. Then describe the forearms and wrists – look at the skin for erythema, ecchymoses or skin atrophy (this may indicate steroid use), scars and rashes (e.g. psoriasis: look over the elbows, in the scalp and around the umbilicus). Look for rheumatoid nodules.
3. Then look for swelling and its distribution, wrist deformity and muscle wasting involving the forearms and interosseous muscles.
4. Go on to the metacarpophalangeal (MCP) joints. Mention, if present, any skin abnormalities, swelling and deformity (Fig 16.56), particularly ulnar deviation and volar subluxation.
FIGURE 16.56 (a) and (b) Swollen joints in psoriatic arthritis over the second and third metacarpophalangeal joints of the hands. A Garg, D Gladman. Recognizing psoriatic arthritis in the dermatology clinic. Capsule Summary Journal of the American Academy of Dermatology, 2010. 63(5):733–748, Figs 3 and 5. American Academy of Dermatology Inc.
5. Next describe the proximal and distal interphalangeal (PIP and DIP) joints. Symmetrical wrist, MCP and proximal joint swellings suggest rheumatoid arthritis. Swelling in the PIP joints and DIP joints is suggestive of osteoarthritis.
6. Again mention any skin changes that may be present, swelling over each joint if present and deformity, particularly ‘swan necking’ and boutonnière deformity of the fingers, and ‘Z’ deformity of the thumb. Sausage-shaped phalanges and telescoping of the fingers with predominant interphalangeal joint disease usually means psoriatic arthropathy or Reiter’s disease (see Fig 16.57). Small joint ankylosis is common. Look for telangiectasiae.
FIGURE 16.57 Keratoderma blenorrhagicum (Reiter syndrome). The palms and soles are commonly involved. There are keratoic papules, plaques, and pustules that coalesce to form circular borders like those seen on the penis. T P Habif. Clinical dermatology, 5th edn. Fig 8.13. Mosby, Elsevier, 2009, with permission.
7. Next look at the nails and describe any psoriatic nail changes (present in the great majority of patients with psoriatic arthritis) – namely pitting, onycholysis, hyperkeratosis, ridging and discolouration. Note the signs of vasculitis (splinter haemorrhages or black to brown 1–2 mm skin infarcts, usually in a periungual location) and mention this to the examiners.
8. Now ask the patient to open and close the hands. This will reveal tendon ruptures and fixed flexion deformities.
9. Turn the wrists over and look at the palms for scars (Fig 16.55), palmar erythema and muscle wasting.
FIGURE 16.55 Scars from previous tendon surgery and palmar erythema.
10. Now go on and palpate each joint, starting with the wrists. Feel for synovitis (boggy swelling) and effusions. Describe the range of passive movement of the joint. Also note any joint crepitus. Palpate the ulnar styloid for tenderness. When examining the MCP joints, also feel for subluxation. Test for palmar tendon crepitus (tenosynovitis).
11. Having examined each joint, assess the function of the hand. This is very important. Test grip strength, key grip and opposition strength (thumb and little finger), and ask the patient to perform a practical procedure, such as undoing a button.
12. A formal neurological examination of the hand is not required in assessing arthropathy. However, a ganglion or tenosynovitis may cause the carpal tunnel syndrome. Ask the patient to flex both wrists together for 30 seconds – paraesthesiae will often be precipitated in the affected hand if the carpal tunnel syndrome is present (Phalen’s wrist flexion test). Tap over the carpal tunnel while the wrist is held in extension for Tinel’s sign (paraesthesiae in the distribution of the median nerve). These tests have similar but limited specificity and sensitivity. After you have finished with the hands, feel at the elbows for rheumatoid nodules and look carefully for any psoriatic rash there also.
13. If function has been mentioned, check sensation in the median and ulna nerve distributions.
You should now have an idea of the pattern and severity of the deformity, as well as the extent of the loss of function and the activity of the disease. Always consider the differential diagnosis of a deforming polyarthropathy:
• rheumatoid arthritis (see Figs 16.58, 16.59 and 16.66)
FIGURE 16.58 A 40-year-old patient with bilateral rheumatoid hand deformities. (a) Boutonnière deformities of left small, left ring, and right small fingers with simultaneous swan neck deformities of left long, right long, and right ring fingers. (b) Note inability to make a fist on the right hand (predominantly swan neck deformity) compared with the left hand (predominantly boutonnière deformity). (c) Radiograph. S J Sebastin, K C Chung. Reconstruction of digital deformities in rheumatoid arthritis. Hand Clinics, 2011. 27(1):87–104, Fig 1.
FIGURE 16.59 The hands of a patient with severe inflammatory arthritis, showing symmetrical deformity. J E Dacre, J G. Worrall. Rheumatology part 1 of 2: the rheumatological history. Medicine, 2010. 38(3):129–132, Fig 1.
FIGURE 16.66 X-rays of the hands of a patient with early rheumatoid arthritis. Note the erosions of the metacarpal heads, reduced cartilage in the joint spaces and erosion of the ulnar styloid (arrow). Figure reproduced courtesy of The Canberra Hospital.
• seronegative arthropathies – particularly psoriatic arthritis (see Figs 16.60, 16.61, 16.68 and 16.69)
FIGURE 16.60 Psoriasis.
FIGURE 16.61 Pustular psoriasis.
FIGURE 16.68 X-rays of the hands of a patient with polyarthritis secondary to connective tissue disease (CREST syndrome). There are destructive changes in all the joints (the DIP joints are not spared), and bony erosions are prominent. Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.69 X-ray of the hands of a patient with psoriatic arthritis. Note bone erosion, loss of joint space and ‘pencil in cup deformity’ of the PIP joints. Figure reproduced courtesy of The Canberra Hospital.
• polyarticular gout (look for tophi) (Figs 16.62a, b and 16.70) or pseudogout (see Fig 16.63)
FIGURE 16.62 (a) and (b) Tophaceous gout.
FIGURE 16.63 (a) Pseudogout. The swollen interphalangeal joint. (b) Calcium pyrophosphate crystals. A Alexandroff, N Kirkham, N Nayak. The Lancet. Fig 1a. 371(9618):1114. Elsevier, 2008, with permission.
FIGURE 16.70 X-ray of the hands of a patient with severe gouty arthritis. Note the large soft-tissue masses and severe joint destruction. Figure reproduced courtesy of The Canberra Hospital.
• primary generalised osteoarthritis (where DIP and PIP joint involvement is common) (see Figs 16.64, 16.65 and 16.71).
FIGURE 16.64 (a) and (b) Primary generalised osteoarthritis. N Talley, S O’Connor, Clinical examination, 7th edn. Fig 24.5a and b. Elsevier Australia, 2013, with permission.
FIGURE 16.65 (a) to (d) Osteoarthritis of the hands. T L Vincent, F E Watt. Rheumatology, part 1 of 2: osteoarthritis practice points, Medicine, 2009. 38(3):151–156, Fig 2.
FIGURE 16.71 X-ray of the hands of a patient with severe osteoarthritis. Note Heberden’s nodes and DIP joint involvement. Figure reproduced courtesy of The Canberra Hospital.
Severe osteoarthritis can cause hand deformity. Sometimes more than the DIP and PIP joints are involved, but these are usually the worst.
Destructive changes (especially shortening and telescoping of digits) and DIP disease suggests sero-negative arthropathy – look carefully for psoriasis.
FIGURE 16.67 X-ray of the hands showing advanced destructive changes in a patient with rheumatoid arthritis. Note ulnar deviation, Z deformity of the thumb, destruction of the PIP and MCP joints, and bone erosion. Figure reproduced courtesy of The Canberra Hospital.
Look carefully while doing your hand examination for any of these possibilities.
At the end, ask whether you may examine all the other joints that are likely to be involved and the other systems likely to be affected.
‘This 70-year-old man has had painful knees. Please examine him.’
1. Expose both knees and thighs fully and have the patient lie on his back.
2. Look for quadriceps wasting and then over the knees for any skin abnormalities (scars or rashes), swelling and deformity. Synovial swelling is seen medial to the patella and in the suprapatellar area. Fixed flexion deformity must be assessed. This is looked for by inspecting the knee from the side (a space beneath the knee is seen).
3. Feel the quadriceps for wasting.
4. Ask about tenderness and palpate for warmth and synovitis over the knee joint.
5. Examine for effusions – the patella tap (ballottement) is used to confirm a large effusion. The fluid from the suprapatellar bursa is pushed by the hand into the joint space by squeezing the lower part of the quadriceps and then pushing the patella downwards with the fingers. The patella will be ballottable if fluid is present under it. In patients with a smaller effusion, pressing over the lateral knee compartment may produce a noticeable medial bulge as a result of fluid displacement.
6. Test flexion and extension passively and note the range of movement and the presence or absence of crepitus.
7. Examine for fixed flexion deformity by gently extending the knee.
8. Test the ligaments next. The lateral and medial collateral ligaments are tested by having the knee slightly flexed, holding the leg with the right hand and arm, steadying the thigh with the left hand and moving the leg laterally and medially. Movements of more than 5–10° are abnormal. The cruciate ligaments are tested by steadying the foot with your elbow and moving the leg anteriorly and posteriorly with the other hand. Again, laxity of more than 5–10° is abnormal.
9. Use McMurray’s test for meniscal integrity. Hold the lower leg and foot, flex and extend the knee while internally and externally rotating the tibia. Pain or clicking is very suggestive of a meniscal tear.
10. Ask the patient to stand up and examine for a Baker’s cyst, which is felt in the popliteal fossa and is more obvious when the knee is extended.
11. Proceed then to examine other joints that may be involved or test function by asking the patient to walk.
The knees and other hinge joints are commonly affected in patients with arthritis secondary to haemophilia. The pattern of joint involvement and juxta-articular bony sclerosis on X-ray film help to distinguish this from rheumatoid arthritis involving the knees (see Figs 16.72 and 16.73).
FIGURE 16.72 X-ray of the knee joint of a patient with arthritis secondary to haemophilia. Note loss of joint space. The juxta-articular aspects of the tibia and femur appear sclerotic, but the bones are generally osteoporotic. Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.73 X-ray of the knee of a patient with rheumatoid arthritis. Here there is more severe joint space loss. Figure reproduced courtesy of The Canberra Hospital.
‘This 50-year-old woman has painful feet. Please examine her (her feet).’
1. Start by inspecting the ankles. Look at the skin of the feet and toes (for scars, ulcers and rashes), and look for swelling, deformity and muscle wasting. Examine the midfoot and forefoot similarly. Deformities affecting the forefoot include hallux valgus and clawing and crowding of the toes (in rheumatoid arthritis). If pes cavus is present, consider a hereditary motor and sensory neuropathy.
2. Note any psoriatic nail changes. Look at the transverse and longitudinal arches. Look for callus over the metatarsal heads, which occurs in subluxation. Note any obvious painless deformities or Charcot’s joints.
3. Palpate, starting with the ankle, feeling for synovitis and effusion. Passive movement of the talar joints (dorsiflexion and plantarflexion) and subtalar joints (inversion and eversion) must be assessed. The best way to examine the subtalar and midtarsal joints is to fix the os calcaneus and ankle joint with the left hand while inverting and everting the midfoot with the right. Tenderness on movement is more important than range of movement. The midfoot (midtarsal joint) allows rotation of the forefoot on a fixed hindfoot. Squeeze the metatarsophalangeal joints for tenderness.
4. Examining the individual toes is useful in seronegative spondyloarthropathies (a sausage-like swelling of the toe is characteristic in psoriatic arthritis).
5. Feel the Achilles tendon for nodules and palpate the inferior aspect of the heel for tenderness (plantar fasciitis).
6. Consider a neurological examination – test pinprick sensation and proprioception. Go on to examine other joints as appropriate.
X-rays of the feet are the most likely investigations that will be available (see Figs 16.74–16.78). Patients with rheumatoid arthritis can have involvement of the cervical spine, hips and shoulders, and X-rays of these may also be available.
FIGURE 16.74 (a) X-ray of the feet of a patient with early rheumatoid arthritis. Note the joint erosions and deformity of some of the MTP and PIP joints.
(b) X-ray of the ankles of a patient with rheumatoid arthritis. There is generalised loss of joint spaces, and early destructive changes are present. Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.75 X-ray of the feet of a patient with early psoriatic arthritis. Note the large erosions and absence of osteoporosis. There is already some joint deformity, and a spiculated bony growth is visible. Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.76 X-ray of the feet of a patient with severe psoriatic arthritis: arthritis mutilans. Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.77 X-ray of the feet of a patient with severe gouty arthritis. Note the relative preservation of the joint spaces with erosions and overhanging edges. The area of the junction of the forefoot and midfoot has numerous erosions, which is a common finding. Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.78 X-ray of the feet of a patient with diabetic arthropathy. Note the gross joint destruction – Charcot’s joints. Figure reproduced courtesy of The Canberra Hospital.
‘This 47-year-old man has had back pain for many years. Please examine him.’
‘This 47-year-old man has ankylosing spondylitis. Please examine him and assess the severity of his disease.’ (Fig 16.79)
FIGURE 16.79 Ankylosing spondylitis. Note the occiput-to-wall distance.
1. The initial inspection confirms that this is a case of ankylosing spondylitis (see Table 16.46). Ask the patient to undress to his underpants and stand up. Look for deformity, inspecting from both the back and the side, particularly for loss of kyphosis and lumbar lordosis. Palpate each vertebral body for tenderness and palpate for muscle spasm.
The seronegative spondyloarthropathies
Reactive arthritis, including Reiter’s syndrome
2. Test movement next. Measure the finger–floor distance (inability to touch the toes suggests early lumbar disease).
3. Next look at extension, lateral flexion and rotation of the back. Get him to run each hand down the corresponding thigh to test lateral flexion.
4. Ask whether you may perform a modified Schober’s test. This involves identifying the level of the posterior iliac spine on the vertebral body (approximately at L5). Place a mark 5 cm below this point and another 10 cm above this point. Ask the patient to touch his toes. There should normally be an increase of 5 cm or more in the distance between the marks. In ankylosing spondylitis there will be little separation of the marks, since all the movement is taking place at the hips.
Small adhesive paper or plastic strips are popular as markers: do not mark the patient with a pen.
5. Next test the occiput-to-wall distance. Ask the patient to place his heels and back against the wall and ask him to touch the wall with the back of his head without raising his chin above the carrying level; inability to touch the wall suggests cervical involvement and the distance from occiput to wall is measured.
It is a good idea to know why testing of occiput-to-wall distance is performed: it is to assess progression of the disease at clinic visits.
6. Before asking the patient to lie down, test for active sacroiliac disease by springing the anterior superior iliac spines. Pain felt in the region of the sacroiliac joints suggests activity. A simple (and unreliable) test for sacroiliac disease is to push with the heel of the hand on the sacrum and note the presence of tenderness in either sacroiliac joint on springing. (Note: Usually there is bilateral disease in ankylosing spondylitis.)
7. Ask the patient to lie on his stomach. Examine the heels for Achilles tendinitis and plantar fasciitis, which are characteristic of the spondyloarthropathies. Evaluate the other large joints, particularly the knees, hips and shoulders.
8. Examine the chest for decreased lung expansion (chest expansion of less than 3 cm at the nipple line suggests early costovertebral involvement) and for signs of apical fibrosis. Examine the heart for aortic regurgitation, mitral valve prolapse and evidence of conduction defects, and the eyes for uveitis.
9. Examine the gastrointestinal system for evidence of inflammatory bowel disease and for signs of amyloid deposition (e.g. hepatosplenomegaly, abnormal urine analysis results). Remember also to check for signs of psoriasis and Reiter’s syndrome, which may cause spondylitis and unilateral sacroiliitis. Rarely, patients with ankylosing spondylitis have a cauda equina compression. X-ray changes are described in Table 16.47 and illustrated in Figs 16.80–16.82.
X-ray changes in ankylosing spondylitis
FIGURE 16.80 X-ray of the pelvis of a patient with Reiter’s syndrome. Note the loss of joint space in the two sacroiliac joints and lumbar spine ankylosis. Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.81 Lateral chest X-ray of a patient with ankylosing spondylitis. Note the loss of joint space and squaring of the vertebrae. Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.82 X-ray of the pelvis of a patient with ankylosing spondylitis. Note the lateral bridging syndesmophytes (arrow). Figure reproduced courtesy of The Canberra Hospital.
The cauda equina syndrome
Back, buttock and leg pain
Saddle sensory loss
Lower limb weakness
Loss of sphincter control
The nervous system
There will usually be some direction from the stem, sometimes to the upper or lower cranial nerves. The introduction may vary, from a problem with vision, speech or swallowing to a history of neck surgery or trauma.
1. Inspect the head and neck briefly first. Have the patient sit over the edge of the bed facing you and look for any craniotomy scars (often well disguised by hair), neurofibromata, Cushing’s syndrome, acromegaly, Paget’s disease, facial asymmetry and obvious ptosis, proptosis, skew deviation of the eyes or pupil inequality.
2. Look for the characteristic facies of myasthenia gravis or myotonic dystrophy.
1. Ask the examiners whether they want you to test smell. They will rarely allow you to proceed as it is time-consuming and not usually fruitful in examinations. If you are required to test smell, a series of sample bottles will be provided by the examiners containing vanilla, coffee and other non-pungent substances. Remember to test each nostril separately (see p. 415 for the causes of anosmia).
Testing upward gaze in the extreme lateral position will often reveal limitation in normal people.
2. Test visual acuity (with the patient’s spectacles on, as refractive errors are not cranial nerve abnormalities) using a visual acuity chart. Test each eye separately, covering the other eye with a small card.
3. Examine the visual fields by confrontation using a red-tipped hatpin, making sure your head is level with the patient’s head. A red hatpin enables you to detect earlier peripheral field loss. Test each eye separately. If the patient has such poor acuity that a hatpin is difficult to use, map the fields with your fingers. When you are testing the patient’s right eye, he or she should look straight into your left eye. The patient’s head should be at arm’s length and he or she should cover the eye not being tested with a hand. Bring the hatpin from the four main directions diagonally towards the centre of the field of vision.
4. Next map out the blind spot by asking about disappearance of the hatpin lateral to the centre of the field of vision of each eye. Only a gross enlargement may be detectable by comparison with your own blind spot.
5. Look into the fundi (p. 414).
THIRD, FOURTH AND SIXTH NERVES
6. Look at the pupils. Note the shape, relative sizes and any associated ptosis. Use your pocket torch and shine the light from the side to gauge the reaction to light on both sides. Do not bore the examiners by shining the light repeatedly into each eye – practise assessing the direct and consensual responses rapidly.
7. Look for the Marcus Gunn phenomenon (afferent pupillary defect) by moving the torch in an arc from pupil to pupil. The affected pupil will paradoxically dilate after a short time when the torch is moved from a normal eye to one with optic atrophy or very decreased visual acuity from other causes.
8. Test accommodation by asking the patient to look into the distance and then at your red hatpin placed about 15 cm from his or her nose.
9. Assess eye movements with both eyes first. Ask the patient to look voluntarily and quickly from left to right and then to follow the red hatpin in each direction – right and left lateral gaze, plus up and down in the central position. Look for failure of movement and nystagmus.
Sometimes reduced eye movement will be detected only when the patient looks quickly from one side to the other.
10. Ask about diplopia (double vision) when the eyes are in each position. For complex lesions assess each eye separately. Move the patient’s head if he or she is unable to follow movements. Beware of strabismus.
Subtle mystagmus is normal at the extremes of gaze.
Upward gaze is normally limited in elderly patients.
11. Ask permission first to test the corneal reflexes. Make sure you touch the cornea (not the conjunctiva) gently with a piece of cotton wool. Come in from the side and do this only once on each side. If the nerve pathways are intact, the patient will blink both eyes. Ask whether he or she can actually feel the touch (V is the sensory component).
Corneal reflex: when there is an ipsilateral seventh nerve palsy, only the contralateral eye will blink – sensation is preserved (nerve VII is the motor component). Also, with an ipsilateral seventh nerve palsy, the eye on the side of the lesion may roll superiorly with the corneal stimulus (‘Bell’s phenomenon’).
12. Test facial sensation in the three divisions: ophthalmic, maxillary and mandibular. Use a pin first to assess pain. Map out any area of sensory loss from dull to sharp and check for any loss on the posterior part of the head (C2) and neck (C3). Light touch must be tested also, as there may be some sensory dissociation.
A medullary or upper cervical lesion of the fifth nerve causes loss of pain and temperature sensation with preservation of light touch. A pontine lesion may cause loss of light touch with preservation of pain and temperature sensation.
13. Examine the motor division by asking the patient to clench his or her teeth (feeling the masseter muscles) and open the mouth; the pterygoid muscles will not allow you to force it closed if the nerve is intact. A unilateral lesion causes the jaw to deviate towards the weak (affected) side.
Occasionally myasthenia affects the facial muscles. If you suspect myasthenia because of eye signs it might be worth testing for the transverse smile sign. Weakness of the levator muscles of the mouth makes an attempt at prolonged smiling look more like a grimace.
14. Always test the jaw jerk (with the mouth just open, the finger over the jaw is tapped with a tendon hammer). An increased jaw jerk occurs in pseudobulbar palsy.
15. Look for facial asymmetry and then test the muscles of facial expression. Ask the patient to look up and wrinkle the forehead. Look for loss of wrinkling and feel the muscle strength by pushing down on each side. This is preserved in an upper motor neurone lesion because of bilateral cortical representation of these muscles.
16. Next ask the patient to tightly shut the eyes – compare how deeply the eyelashes are buried on the two sides and then try to open each eye. Ask the patient to grin and compare the nasolabial grooves.
17. If a lower motor neurone lesion is detected, quickly check for ear and palatal vesicles of herpes zoster of the geniculate ganglion – the Ramsay Hunt syndrome. Examining for taste on the anterior two-thirds of the tongue is not usually required.
18. Whisper a number softly about 0.5 m away from each ear and ask the patient to repeat the number. Perform Rinne’s and Weber’s tests with a 256-hertz tuning fork. If indicated, ask for an auriscope (wax is the most common cause of conductive deafness).
NINTH AND TENTH NERVES
19. Look at the palate and note any uvular displacement. Ask the patient to say ‘aaah’ and look for asymmetrical movement of the soft palate. With a unilateral tenth nerve lesion the uvula is drawn towards the unaffected (normal) side.
20. Testing the gag reflex is traditional, but adds little to the examination. If the palate moves normally and the patient can feel the spatula, the same information is obtained (the ninth nerve is the sensory component and the tenth nerve the motor component): touch the back of the pharynx on each side. Remember to ask the patient whether he or she feels the spatula each time. You may not attain top marks if the patient vomits all over the examiners. If the spatula is used correctly, the patient will gag only if the reflex is hyperactive.
21. Ask the patient to speak (to assess hoarseness) and to cough (listen for a bovine cough, which may occur with a recurrent laryngeal nerve lesion). Note: You will not usually be required to test taste on the posterior third of the tongue (i.e. ninth nerve).
22. Ask the patient to shrug the shoulders and then feel the trapezius bulk and push the shoulders down. Then instruct the patient to turn his or her head against resistance (your hand) and also feel the muscle bulk of the sternomastoids (Fig 16.83 sternocleidomastoid wasting).
FIGURE 16.83 Left-sided sternocleidomastoid wasting.
23. While examining the mouth, inspect the tongue for wasting and fasciculation (best seen with the tongue not protruded, and which may be unilateral or bilateral).
Take time to inspect the tongue. Fasciculations and wasting are easily missed but are very important in the diagnosis of a lower motor neurone twelfth nerve palsy.
24. Ask the patient to protrude the tongue. Look again for fasciculation and wasting. With a unilateral lesion it deviates towards the weaker (affected) side.
25. The way to finish your assessment depends entirely on your findings. For example, if you discover evidence of a particular syndrome (such as the lateral medullary syndrome), you should proceed to confirm your impressions by examining more peripherally, if allowed (especially for sensory long tract and cerebellar signs, see below).
If you have discovered multiple lower cranial nerve palsies, you would want to assess, among other features, the nasopharynx for signs of tumour and the neck for scars and radiotherapy changes.
26. Auscultating for carotid or cranial bruits (over the mastoids, temples and orbits), as well as taking the blood pressure and testing the urine for sugar, are relevant.
Relevant investigations are likely to be CT or MRI scans. These are not always easy for physicians to report. Candidates would hope to have a good idea where in the brain or the spinal cord the abnormality is likely to be present. Only scans with quite obvious abnormalities are likely to be used for the exam (see Fig 16.84) (because the examiners are otherwise more likely than not to have little idea).
FIGURE 16.84 MRI scan of a right-handed woman with right hemiplegia and aphasia. There is a large left middle cerebral artery stroke with haemorrhagic transformation (arrow). Figure reproduced courtesy of The Canberra Hospital.
‘Please examine this man’s eyes.’
Method (see Table 16.48)
Medical eye examination
1. Always inspect the eyes first, with the patient sitting over the end of the bed facing you at eye level if possible. Note any corneal abnormalities, such as band keratopathy (in hypercalcaemic states) or Kayser-Fleischer rings (Wilson’s disease). Look at the sclerae for colour (e.g. jaundice, blue in osteogenesis imperfecta), pallor, injection and telangiectasia. Inspect carefully for subtle ptosis or strabismus. Look for exophthalmos from behind and above the patient, as well as in front.
2. Proceed then as for the cranial nerve eye examination, testing acuity, fields and pupils, and then performing fundoscopy.
3. Begin fundoscopy by examining the cornea and lens, and then the retina. Note any corneal, lens or humor abnormalities. Look for retinal changes of diabetes mellitus (see Table 16.43) and hypertension (see Table 16.7). Also carefully inspect for optic atrophy, papilloedema, angioid streaks (see p. 381), retinal detachment, central vein or artery thrombosis and retinitis pigmentosa.
FIGURE 16.43 Diffuse goitre. G Medeiros-Neto, R Y Camargo, E K Tomimori. Thyroid disorders and diseases: approach to and treatment of goiters. Medical Clinics of North America, 2012. 96(2):351–368, Fig 3.
4. Test eye movements. Also look for fatiguability of eye muscles by asking the patient to look up at your hatpin for half a minute (myasthenia gravis). Alternatively ask the patient to close the eyes tightly; if positive (the peek sign), within 30 seconds the lid margin will begin to separate, showing the sclera. Test for lid lag if you suspect hyperthyroidism.
5. Test the corneal reflex.
6. Palpate the orbits for tenderness and auscultate the eyes with the bell of the stethoscope (the eye being tested is shut, the other is open and the patient is asked to stop breathing).
7. Do not forget that the patient may have a glass eye. Suspect this if visual acuity is zero in one eye and no pupillary reaction is apparent. Lengthy attempts to examine the fundus of a glass eye are embarrassing (and not uncommon).
This is rare but important to recognise. These patients have a horizontal gaze palsy when looking to one side (the ‘one’) plus impaired adduction on looking to the other side (the ‘and-a-half’). Other features often include turning out (exotropia) of the eye opposite the side of the lesion (paralytic pontine exotropia). The one-and-a-half syndrome can be caused by a stroke (infarct), plaque of multiple sclerosis or tumour in the dorsal pons.
If you find a partial ptosis and a constricted pupil (which reacts normally to light), Horner’s syndrome is likely (see Table 16.49, Fig 16.85). Proceed as follows.
Causes of Horner’s syndrome
FIGURE 16.85 Horner’s syndrome (right eye abnormal). M Yanoff, J S Duker. Ophthalmology, 3rd edn. Fig 9.19.7. Mosby, Elsevier, 2008, with permission.
1. Test for a difference in sweating over each brow with the back of your finger (even though your brow is usually more sweaty than the patient’s); this occurs only when the lesion is proximal to the carotid bifurcation. Absence of sweating differences does not exclude the diagnosis of Horner’s syndrome.
2. Next, examine the appropriate cranial nerves to exclude the lateral medullary syndrome:
a. nystagmus (to the side of the lesion)
b. ipsilateral fifth (pain and temperature), ninth and tenth cranial nerve lesions
c. ipsilateral cerebellar signs
d. contralateral pain and temperature loss over the trunk and limbs.
3. Ask the patient to speak and note any hoarseness (which may be caused by recurrent laryngeal nerve palsy from a chest lesion or a cranial nerve lesion).
4. Look at the hands for clubbing. Test finger abduction to screen for a lower trunk brachial plexus (C8, T1) lesion.
5. If there are signs of hoarseness or a lower trunk brachial plexus lesion, proceed to a respiratory examination, concentrating on the apices for signs of lung carcinoma.
6. Examine the neck for lymphadenopathy, thyroid carcinoma and a carotid aneurysm or bruit (e.g. fibromuscular dysplasia causing dissection).
7. As syringomyelia may rarely cause this syndrome, finish off the assessment by examining for dissociated sensory loss. Remember, this lesion may cause a bilateral Horner’s syndrome (a trap for the unwary).
Notes on the cranial nerves
First (olfactory) nerve (p. 409)
CAUSES OF ANOSMIA
1. Upper respiratory tract infection (most common).
2. Meningioma of the olfactory groove (late).
3. Ethmoid tumours.
4. Head trauma (including cribriform plate fracture).
7. Congenital – Kallmann’s syndrome (hypogonadotrophic hypogonadism).
1. Meningioma of the olfactory groove (early).
2. Head trauma.
Second (optic) nerve (p. 409)
Constriction of the pupil in response to light is relayed via the optic nerve and tract, the superior quadrigeminal brachium, the Edinger-Westphal nucleus and its efferent parasympathetic fibres, which terminate in the ciliary ganglion. There is no cortical involvement.
Constriction of the pupil with accommodation originates in the cortex (in association with convergence) and is relayed via parasympathetic fibres in the third nerve.
CAUSES OF ABSENT LIGHT REFLEX BUT INTACT ACCOMMODATION REFLEX
1. Midbrain lesion (e.g. Argyll Robertson pupil).
2. Ciliary ganglion lesion (e.g. Adie’s pupil).
3. Parinaud’s syndrome.
4. Bilateral anterior visual pathway lesions (i.e. bilateral afferent pupil deficits).
CAUSES OF ABSENT CONVERGENCE BUT INTACT LIGHT REFLEX
1. Cortical lesion (e.g. cortical blindness).
2. Midbrain lesions (rare).
CAUSES OF CONSTRICTION
1. Horner’s syndrome.
2. Argyll Robertson pupil.
3. Pontine lesion (often bilateral, but reactive to light).
5. Pilocarpine drops.
6. Old age.
CAUSES OF DILATION
1. Mydriatics, atropine poisoning or cocaine.
2. Third nerve lesion.
3. Adie’s pupil.
4. Iridectomy, lens implant, iritis.
5. Post-trauma, deep coma, cerebral death.
Visual field defects (see Fig 16.86)
Lesion in the efferent parasympathetic pathway.
1. Dilated pupil.
2. Decreased or absent reaction to light (direct and consensual).
3. Slow or incomplete reaction to accommodation with slow dilation afterwards.
4. Decreased tendon reflexes.
5. Patients are commonly young women.
Argyll Robertson pupil (Fig 16.87)
Lesion of the iridodilator fibres in the midbrain, as in:
FIGURE 16.87 Argyll Robertson pupil. (a) Lack of pupillary constriction to light. (b) Pupillary constriction to accommodation. T A Aziz, R P Holman. The Argyll Robertson pupil. American Journal of Medicine, 2010. 123(2):120–121, Fig 1. Elsevier, with permission.
2. diabetes mellitus
3. alcoholic midbrain degeneration (rarely)
4. other midbrain lesions.
1. Small, irregular, unequal pupil.
2. No reaction to light.
3. Prompt reaction to accommodation.
4. If tabes associated, decreased reflexes.
CAUSES OF PAPILLOEDEMA (Fig 16.88a)
FIGURE 16.88 Patterns of optic atrophy. (a) Superotemporal sector atrophy in a 59-year-old woman with a supraclinoid internal carotid artery aneurysm compressing the optic nerve. (b) Band (‘bowtie’) atrophy in an 8-year-old boy with a craniopharyngioma compressing the optic chiasm. (c) Diffuse optic atrophy in a 41-year-old woman with neuromyelitis optica after a severe attack that left her with no light perception. (d) Glaucomatous cupping with atrophy of the superior and inferior neuroretinal rim appearing as ‘notching’ of the neuroretinal rim and vertical elongation of the cup. L A Levin, D M Albert (eds). Ocular diseases: mechanisms and management. Fig 44.1. Saunders, Elsevier, 2010, with permission.
1. Space-occupying lesion (causing raised intracranial pressure) or a retro-orbital mass.
Papilloedema versus papillitis
Optic disc swollen without venous pulsation
Optic disc swollen*
Acuity normal (early)
Colour vision normal
Colour vision affected (particularly red desaturation)
Large blind spot
Large central scotoma
Peripheral constriction of visual fields
Pain on eye movement
Onset usually sudden and unilateral
*In retrobulbar neuritis and old papillitis the optic disc becomes pale.
2. Hydrocephalus (associated with large ventricles):
a. obstructive (block in the third ventricle, aqueduct or outlet to fourth ventricle – e.g. tumour)
c. increased formation – choroid plexus papilloma
d. decreased absorption – tumour causing venous compression, subarachnoid space obstruction from meningitis.
3. Benign intracranial hypertension (pseudotumour cerebri, associated with small ventricles):
b. contraceptive pill
c. Addison’s disease
d. drugs – nitrofurantoin, tetracycline, vitamin A, steroids
e. lateral sinus thrombosis
f. head trauma.
4. Hypertension (grade IV).
5. Central retinal vein thrombosis.
6. Cerebral venous sinus thrombosis.
7. High cerebrospinal fluid protein level – Guillain-Barré syndrome.
CAUSES OF OPTIC ATROPHY (Fig 16.88)
1. Chronic papilloedema or optic neuritis.
2. Optic nerve pressure or division.
5. Familial – retinitis pigmentosa, Leber’s disease, Friedreich’s ataxia.
CAUSES OF OPTIC NEUROPATHY
1. Multiple sclerosis (see Fig 12.1).
2. Toxic – ethambutol, chloroquine, nicotine, alcohol.
3. Metabolic – vitamin B12 deficiency.
4. Ischaemia – diabetes mellitus, temporal arteritis, atheroma.
5. Familial – Leber’s disease.
6. Infective – infectious mononucleosis (glandular fever).
CAUSES OF CATARACT
1. Old age (senile cataract).
2. Endocrine – diabetes mellitus, steroids.
3. Hereditary or congenital – dystrophia myotonica, Refsum’s disease.
4. Ocular disease – glaucoma.
CAUSES OF PTOSIS
1. With normal pupils:
a. senile ptosis (common)
b. myotonic dystrophy
c. fascioscapulohumeral dystrophy
d. ocular myopathy e.g. mitochondial myopathy
e. thyrotoxic myopathy
f. myasthenia gravis
g. botulism, snake bite
2. With constricted pupils:
a. Horner’s syndrome
b. tabes dorsalis.
3. With dilated pupils: third nerve lesion.
Third (oculomotor) nerve (p. 409)
When a patient has diplopia, ptosis and eye movement abnormalities not explained by cranial nerve problems, consider an ocular myopathy e.g. mitochondrial myopathy. Unlike myasthenia patients these do not worsen with repetition or maintenance.
CLINICAL FEATURES OF A THIRD NERVE PALSY (Fig 16.89)
FIGURE 16.89 Third nerve palsy. A 52-year-old woman with right upper lid ptosis from a third nerve palsy. Note the marked limited adduction and elevation of the right eye. The patient has less limitation to depression of the right eye. J A Nerad, K D Carter, M A Alford. Disorders of the eyelid: blepharoptosis and eyelid retraction. In Rapid diagnosis in ophthalmology series: oculoplastic and reconstructive surgery. Fig 5.6. Mosby, Elsevier, 2008, with permission.
1. Complete ptosis (partial ptosis may occur with an incomplete lesion).
2. Divergent strabismus (eye ‘down and out’).
3. Dilated pupil unreactive to direct or consensual light and unreactive to accommodation.
Always exclude a fourth (trochlear) nerve lesion when a third nerve lesion is present. Do this by tilting the patient’s head to the same side as the lesion. The affected eye will intort if the fourth nerve is intact. Or ask the patient to look down and across to the opposite side from the lesion and look for intortion. Remember SIN:
Superior (oblique muscle), supplied by the IV nerve, INtorts the eye
1. Vascular (e.g. brain stem infarction).
3. Demyelination (rare).
1. Compressive lesions:
a. aneurysm (usually on the posterior communicating artery)
b. tumour causing raised intracranial pressure (dilated pupil occurs early)
c. nasopharyngeal carcinoma
d. orbital lesions – Tolosa-Hunt syndrome (superior orbital fissure syndrome – painful lesion of the third, fourth, sixth and the first division of the fifth cranial nerves)
e. basal meningitis.
2. Infarction – diabetes mellitus, arteritis (pupil is usually spared).
4. Cavernous sinus lesions.
Sixth (abducens) nerve (p. 409)
CLINICAL FEATURES OF A SIXTH NERVE PALSY
1. Failure of lateral movement.
2. Affected eye is deviated inwards in severe lesions.
3. Diplopia – maximal on looking to the affected side; the images are horizontal and parallel to each other; the outermost image is from the affected eye and disappears on covering this eye (this image is also usually more blurred).
1. Trauma (head injury).
2. Wernicke’s encephalopathy.
3. Raised intracranial pressure.
4. Mononeuritis multiplex.
c. Wernicke’s encephalopathy
d. multiple sclerosis (rare).
a. diabetes, other vascular lesions
d. raised intracranial pressure.
1. With the eye abducted: the elevator is the superior rectus (third nerve). The depressor is the inferior rectus (third nerve).
2. With the eye adducted: the elevator is the inferior oblique (third nerve). The depressor is the superior oblique (fourth nerve).
CAUSES OF NYSTAGMUS
a. vestibular lesion (Note: Chronic lesions cause nystagmus to the side of the lesion – fast component.)
b. cerebellar lesion (Note: Unilateral disease causes nystagmus to the side of the lesion.)
c. internuclear ophthalmoplegia (Fig 16.90). (Note: Nystagmus is in the abducting eye, with failure of adduction on the affected side. This is a result of a medial longitudinal fasciculus lesion. The most common cause in young adults with bilateral involvement is multiple sclerosis; in the elderly, consider brain stem infarction. When the medial longitudinal fasciculus and the abducens nucleus on the same side are affected, the only horizontal movement the patient can make is abduction of the contralateral eye – one-and-a-half syndrome.)
FIGURE 16.90 Internuclear ophthalmoplegia. (a) Unilateral, gaze to the left (abnormal). (b) Bilateral, gaze to the right (abnormal). (c) Bilateral, gaze to the left (abnormal). (d) Bilateral, convergence (normal). A Compston, I McDonald, J Noseworthy et al. The symptoms and signs of multiple sclerosis. In McAlpine’s multiple sclerosis, 4th edn. Fig 6.9, Churchill Livingstone, Elsevier, 2006, with permission.
a. brain stem lesion
i. upbeat nystagmus suggests a lesion in the floor of the fourth ventricle
ii. downbeat nystagmus suggests a foramen magnum lesion
b. toxic – phenytoin, alcohol (may also cause horizontal nystagmus).
1. Retinal (decreased macular vision) – albinism.
Loss of vertical upward gaze and sometimes downward gaze. Clinical features (distinguishing from third, fourth and sixth nerve palsy):
1. both eyes affected
2. pupils often unequal
3. no diplopia
4. reflex eye movements (e.g. on flexing and extending the neck) intact.
STEELE-RICHARDSON-OLSZEWSKI SYNDROME (PROGRESSIVE SUPRANUCLEAR PALSY)
1. Loss of vertical downward gaze first, later vertical upward gaze and finally horizontal gaze.
2. Associated with pseudobulbar palsy, long tract signs, extrapyramidal signs, dementia and neck rigidity.
Loss of vertical upward gaze often associated with convergence–retraction nystagmus on attempted convergence and pseudo Argyll Robertson pupils.
Causes of Parinaud’s syndrome
b. multiple sclerosis
c. vascular lesions.
b. diabetes mellitus
c. other vascular lesions
e. raised intracranial pressure.
Fifth (trigeminal) nerve palsy (p. 410) (see Fig 16.91)
Central (pons, medulla and upper cervical cord)
FIGURE 16.91 Divisions of the trigeminal nerve and dermatomes of the head and neck.
4. Multiple sclerosis.
Peripheral (posterior fossa)
2. Tumour (skull base, e.g. acoustic neuroma).
3. Chronic meningitis.
Trigeminal ganglion (petrous temporal bone)
2. Fracture of the middle fossa.
Cavernous sinus (associated third, fourth and sixth nerve palsies)
1. Sjögren’s syndrome.
1. If there is loss of all sensation in all three divisions of the fifth nerve consider a lesion at the ganglion or sensory root.
2. If there is total sensory loss in one division – consider a postganglionic lesion.
3. If there is loss of pain but preservation of touch – consider a brain stem or upper cervical cord lesion.
4. If there is loss of touch but pain sensation is preserved – consider a pontine nucleus lesion.
Seventh (facial) nerve palsy (p. 411)
Upper motor neurone lesion (supranuclear)
Lower motor neurone lesion
1. Pontine (often associated with nerves V, VI):
d. multiple sclerosis.
2. Posterior fossa:
a. acoustic neuroma
3. Petrous temporal bone:
a. Bell’s palsy
b. Ramsay Hunt syndrome
c. otitis media
CAUSES OF BILATERAL LOWER MOTOR NEURONE FACIAL WEAKNESS
1. Guillain-Barré syndrome.
2. Bilateral parotid disease (e.g. sarcoidosis).
3. Mononeuritis multiplex (rare).
Myopathy and neuromuscular junction defects can cause bilateral facial weakness.
Eighth (acoustic) nerve (p. 411)
To differentiate nerve deafness from conductive deafness, use the following tests.
A 256-hertz vibrating tuning fork is first placed on the mastoid process, behind the ear and, when the sound is no longer heard, it is placed in line with the external meatus.
1. Normal – the note is audible at the external meatus.
2. Nerve deafness – the note is audible at the external meatus because air and bone conduction are reduced equally, so that air conduction is better (as is normal); positive result.
3. Conduction (middle ear) deafness – no note is audible at the external meatus; negative result.
A 256-hertz tuning fork is placed on the centre of the forehead.
1. Normal – the sound is heard in the centre of the forehead.
2. Nerve deafness – the sound is transmitted to the normal ear.
3. Conduction deafness – the sound is heard louder in the abnormal ear.
Note: Although these tests are of traditional importance, they are not very accurate and are now rarely used by neurologists. However, candidates must be able to perform them.
The tines of the fork should be in line with the external auditory canal, so that the sound waves that leave the fork from two axes do not cancel each other out.
CAUSES OF DEAFNESS
1. Nerve (sensorineural) deafness:
a. degeneration (e.g. presbycusis)
b. trauma (e.g. high noise exposure, fracture of the petrous temporal bone)
c. toxic (e.g. aspirin, alcohol, streptomycin)
d. infection (e.g. congenital rubella syndrome, congenital syphilis)
e. tumour (e.g. acoustic neuroma)
f. brain stem lesions
g. vascular disease of the internal auditory artery.
2. Conductive deafness:
b. otitis media
d. Paget’s disease of bone.
Ninth (glossopharyngeal) and tenth (vagus) nerve palsy (p. 411)
1. Vascular (e.g. lateral medullary infarction owing to vertebral or posterior inferior cerebellar artery disease).
4. Motor neurone disease (vagus nerve only).
Peripheral – posterior fossa
3. Chronic meningitis.
4. Guillain-Barré syndrome (vagus nerve only).
Twelfth (hypoglossal) nerve palsy (p. 411)
Upper motor neurone lesion
2. Motor neurone disease.
4. Multiple sclerosis.
The syndrome of bilateral upper motor neurone lesions of the ninth, tenth and twelfth nerves is called pseudobulbar palsy.
Lower motor neurone lesion – unilateral
a. vascular – thrombosis of the vertebral artery
b. motor neurone disease
2. Peripheral (posterior fossa):
c. chronic meningitis
e. Arnold-Chiari malformation
f. fracture or tumour of the base of the skull.
The Arnold-Chiari malformation is a protrusion of the cerebellar tonsils through the foramen magnum. The more severe types (II–IV) cause basilar compression with lower cranial nerve palsies, cerebellar limb signs (owing to tonsillar compression) and upper motor neurone signs in the legs.
Lower motor neurone lesion – bilateral
1. Motor neurone disease.
2. Arnold-Chiari malformation.
3. Guillain-Barré syndrome.
It is difficult to detect unilateral twelfth lesions, as the tongue muscles (except the genioglossus) are bilaterally innervated.
CAUSES OF MULTIPLE CRANIAL NERVE PALSIES
Think of cancer first.
1. Nasopharyngeal carcinoma.
2. Chronic meningitis (e.g. carcinoma, tuberculosis, sarcoidosis).
3. Guillain-Barré syndrome (spares nerves I, II and VIII), including the Miller-Fisher variant.
4. Brain stem lesions – these are usually as a result of vascular disease causing crossed sensory or motor paralysis (i.e. cranial nerve signs on one side and contralateral long tract signs); patients with brain stem gliomas may have similar signs and may live for many years.
5. Arnold-Chiari malformation.
7. Lesion of the base of the skull (e.g. Paget’s disease, large meningioma, metastasis).
8. Rarely, mononeuritis multiplex (e.g. diabetes mellitus).
‘Please examine this 78-year-old man’s higher centres.’
Method (see Table 16.51)
In this assessment especially, you must be guided by your findings. The introduction is important. For example, if you are told the patient also presents with right-sided weakness, you should concentrate on looking for dominant parietal lobe signs.
Higher centres’ examination
1. Shake the patient’s hand, noting any obvious focal weakness and introduce yourself. Explain that you will be asking him some questions.
2. First, ask whether he is right- or left-handed. Then ask questions about orientation (person, place and time). Ask his name, the present location and the date.
3. This also allows you to test for speech abnormality. Assess any nominal dysphasia by asking the patient to name some objects, such as your watch or a pen (see Table 16.52). Ask the patient to repeat a phrase or sentence, for example: ‘The barrister’s closing argument convinced him’. This allows you to assess the fluency of speech, as well as comprehension and repetition. Next ask the patient to perform one- and two-step commands, such as ‘point to the ceiling, but first take off your spectacles’. This assesses the patient’s comprehension.
Examination of dysphasia
*As the patient is aware of his deficit, he is often frustrated and depressed.
4. Next, assess the parietal lobes. Begin with the dominant parietal lobe, as Gerstmann’s syndrome is common in examinations.
FIGURE 16.52 Diabetic retinopathy. N Efron, Contact lens practice, 2nd edn. Fig 35.1. Elsevier, 2010, with permission.
Dominant parietal lobe evaluation: using the mnemonic AALF, examine for:
Acalculia (test mental arithmetic)
Agraphia (test for an inability to write)
Left–right disorientation (e.g. by asking the patient to put his right palm on his left ear, then vice versa)
Finger agnosia (inability to name individual fingers), which is caused by a left angular gyrus lesion in right-handed and about half of left-handed patients
5. Test general parietal functions (involving either lobe). Examine for sensory and visual inattention. Also test for agraphaesthesia (inability to appreciate numbers drawn on the palm) and astereognosis (inability to name objects placed in the hand). Assess constructional apraxia by asking the patient to draw a clock face and fill in the numbers.
6. The major specific non-dominant parietal dysfunction is dressing apraxia. This can be tested by turning the patient’s pyjama top inside out and asking him to put it on correctly.
7. Assess memory, both short and long term. This is a medial temporal lobe function. Ask the patient to remember the name of three flowers (e.g. Rose, Orchid and Tulip – mnemonic ROT for those candidates with a poor memory) and repeat them immediately. Then assess long-term memory, such as by asking when World War II finished. Ask the names of the flowers again at the end of your higher centres’ examination.
8. Test frontal lobe problems, first by assessing the primitive reflexes (see Figs 16.92 and 16.93) normally not present in adults. The grasp reflex, pout reflex and palmar–mental reflex are usually all that need be tested. Then ask for interpretation of a common proverb, such as ‘A rolling stone gathers no moss’. Test for anosmia (cranial nerve I) and gait apraxia (a frontal gait abnormality is marked by gross unsteadiness in walking – the feet typically behave as if glued to the floor, resulting in a hesitant shuffling gait with freezing).
FIGURE 16.92 CT of the brain of a patient with early dementia, showing generalised cerebral atrophy. There is obviously more CSF present than normal (arrows). Figure reproduced courtesy of The Canberra Hospital.
FIGURE 16.93 A frontal glioma found on MRI scan in a patient with frontal lobe signs (arrow). Figure reproduced courtesy of The Canberra Hospital.
9. If there is evidence of a frontal lobe lesion, look at the fundi to exclude the rare Foster Kennedy syndrome (optic atrophy on the side of the lesion and papilloedema in the opposite fundus).
10. Any abnormality of the parietal, temporal or occipital lobes may cause a characteristic visual field loss. This should be tested, if appropriate, at the conclusion of your examination. Other important signs to look for are carotid bruits, hypertension and relevant focal neurological signs.
11. MRI and CT scans may show cerebral atrophy consistent with dementia or sometimes a space-occupying lesion.
‘Please assess this man’s speech.’
Immediately ask the patient to state his name, age and present location. Then ask him to say ‘British Constitution’. By now you should have decided whether the problem is dysphasia, dysarthria or dysphonia.
1. If the speech is fluent but conveys information imperfectly, often with paraphasic errors (e.g. ‘treen’ for train – substitution of a word of similar sound), the main possibilities are nominal and receptive dysphasia. Test for these by asking the patient to name objects, to repeat a statement after you and then follow commands. Then ask him to read and write if the above are abnormal (see Table 16.52).
2. If the speech is slow and non-fluent (hesitant), exactly the same procedure is followed, but an expressive dysphasia is likely. At the end ask to assess for a hemiparesis (see Table 16.52).
3. Remember, large lesions may cause global aphasia, with inability to comprehend or speak, plus hemiparesis (see Table 16.53).
The sites of lesions in aphasia
1. This is a disorder of articulation with no disorder of the content of speech. Consider cerebellar disease and lower cranial nerve lesions particularly. Cerebellar speech is slurred or ‘scanning’ (i.e. irregular and staccato). Pseudobulbar palsy causes slow, hesitant, hollow-sounding speech with a harsh, strained voice, while bulbar palsy causes nasal speech with imprecise articulation.
2. Ask the patient to say ‘British Constitution’, ‘West Register Street’, ‘Me Me Me’ and ‘Lah Lah Lah’.
3. If the speech is cerebellar, go on to this system (p. 457).
4. If palsy of a lower cranial nerve is likely, examine the lower cranial nerves carefully.
5. Do not forget to elicit the jaw jerk. Look in the mouth too for ulceration or other local lesions.
6. Less common causes of dysarthria include extrapyramidal disease and myopathies (p. 451).
This is huskiness of the voice from a laryngeal disorder, recurrent laryngeal nerve palsy or focal dystonia. Assess the quality of the cough too.
‘This man has noticed weakness in his arms. Please examine him.’
Method (see Table 16.54)
Upper limb neurological examination
1. Look at the whole patient briefly. Note particularly evidence of a myopathic face, Parkinsonian features or stroke.
2. Shake the patient’s hand firmly and introduce yourself. If he cannot let go, you have made the diagnosis: myotonia (usually caused by dystrophia myotonica). Ask him to sit over the side of the bed facing you.
Examine the motor system systematically every time.
1. Inspect first for wasting (both proximally and distally) and fasciculations. Do not forget to include the shoulder girdle in your inspection (p. 436).
2. Ask the patient to hold both his hands out with the arms extended and close his eyes. Look for drifting of one or both arms. There are only three causes for this drift:
a. upper motor neurone weakness (usually downwards owing to muscle weakness)
b. cerebellar lesion (usually upwards owing to hypotonia)
c. posterior column loss (any direction owing to joint position sense loss).
3. Also note any tremor and pseudoathetosis as a result of proprioceptive loss.
4. Feel the muscle bulk next, both proximally and distally, and note any muscle tenderness. In the presence of wasting and weakness, fasciculation indicates lower motor neurone degeneration.
5. Test tone at the wrists and elbows by moving the joints at varying velocities.
6. Assess power next.
• abduction (C5, C6): tell the patient to abduct his arms with the elbows flexed and not to let you push them down
• adduction (C6–C8): tell him to adduct his arms with the elbows flexed and not to let you separate them.
• flexion (C5, C6): tell him to bend his elbow and pull so as not to let you straighten it
• extension (C7, C8): tell him to bend his elbow and push so as not to let you bend it.
• flexion (C6, C7): tell him to bend his wrist and not to let you straighten it
• extension (C7, C8): tell him to straighten his wrist and not to let you bend it.
• extension (C7, C8): tell him to straighten his fingers and not to let you push them down
• flexion (C7, C8): tell him to squeeze two of your fingers
• abduction (C8, T1): tell him to spread out his fingers and not to let you push them together.
• Grade the power (p. 440).
7. Test for an ulnar lesion (loss of finger abduction and adduction) and a median nerve lesion (loss of thumb abduction) (p. 445).
8. Examine the reflexes:
a. biceps (C5, C6) – biceps muscle
b. triceps (C7, C8) – triceps muscle
c. supinator (C5, C6) – brachioradialis muscle (elbow flexion)
d. inverted supinator jerk – when tapping the lower end of the radius, elbow extension and finger flexion are the only response; associated with an absent biceps and exaggerated triceps jerk, this indicates an intraspinal lesion compressing the spinal cord and nerve roots at C5, C6
e. finger (C8) – normally, slight flexion of all fingers occurs (not routine).
9. Assess coordination with finger–nose testing and look for dysdiadochokinesis and rebound (p. 458).
Motor weakness can be caused by an upper motor neurone lesion, lower motor neurone lesion, neuromuscular junction disorder or myopathy. If there is evidence of a lower motor neurone lesion, consider anterior horn cell, nerve root and brachial plexus lesions, peripheral nerve lesions or a motor peripheral neuropathy.
Examine the sensory system after motor testing because this can be time-consuming (and confusing, even when assessed by experts).
1. First test the spinothalamic pathway (pain and temperature). Use a new blunt neurology pin. One candidate accidentally pricked his own finger during the examination with a sharp pin. By the time he stopped bleeding his short case time was up. (In case you believe this might be a good ploy, the candidate failed.)
2. Demonstrate to the patient the sharpness of the pin on the anterior chest wall or forehead. Then ask him to close his eyes and tell you if the sensation is sharp or dull. Start proximally and test each dermatome. As you are assessing, try to fit any sensory loss into dermatomal (cord or nerve root lesion) (see Fig 16.94), peripheral nerve, peripheral neuropathy (glove) or hemisensory (cortical or cord) distribution. Also remember that ‘cape’ sensory loss (neck, shoulders and arms) suggests syringomyelia, whereas ‘shield’ sensory loss (front of the chest) may occur with syphilis. It is not usually necessary to test temperature perception in the examination.
FIGURE 16.94 Dermatomes of the upper limb and trunk.
3. Next test the posterior column pathway (vibration and proprioception). Use a 128-hertz tuning fork to assess vibration sense. Place this when vibrating on the ulnar head at the wrist when the patient has his eyes closed and ask whether he can feel it. If so, ask him to tell you when the vibration ceases and then stop the vibration. If the patient has deficient sensation, test at the elbow, then the shoulder. Test both arms.
4. Examine proprioception first with the DIP joint of the index finger. When the patient has his eyes open, grasp his distal phalanx from the sides and move it up and down to demonstrate, then ask him to close his eyes and repeat the manoeuvres. Normally, movement through even a few degrees is detectable and he can tell whether it is up or down. If there is an abnormality, proceed to test the wrist and elbows similarly.
Proprioceptive loss may be subtle. A normal person can detect movement and usually direction changes of 1 or 2°. Begin with small joint movements.
5. Test light touch with cotton wool. Touch the skin lightly in each dermatome. Do NOT stroke!
6. Feel for thickened nerves – ulnar at the elbow, median at the wrist and radial at the wrist – and feel the axillae if there is evidence of a plexus lesion. Do not forget to mention any scars that may be present. Finally, examine the neck movements, if relevant, and look for surgical scars in the front and back of the neck and in the axillae.
7. To confirm a diagnosis, it may be necessary to examine further afield. Ask the examiners whether you can do this. For example, if there is evidence of motor neurone disease, assess the lower limbs, as well as the tongue. If there is evidence of a C5, C6 root lesion, assess the lower limbs for an upper motor neurone lesion and the neck for cervical spondylosis.
Shoulder girdle examination
‘This 48-year-old woman has had difficulty lifting objects above her head. Please examine her shoulder girdle.’
This introduction is often used for facio-scapulo-humeral (FSH) muscular dystrophy. A careful inspection of the face will reveal wasting of the masseter and temporalis muscles, among others.
This is likely to be a muscular dystrophy or a root lesion. Proceed by inspecting each muscle, palpating its bulk and testing function as follows.
1. From the back:
a. trapezius (XI, C3, C4) – ask the patient to elevate her shoulders against resistance and look for winging of the upper scapula
b. serratus anterior (C5–C7) – ask her to push her hands against the wall and look for winging of the lower scapula
c. rhomboids (C4, C5) – ask her to pull both shoulder blades together with her hands on her hips
d. supraspinatus (C5, C6) – ask her to abduct her arms against resistance and begin with her arms less than 15° from her sides
e. infraspinatus (C5, C6) – ask her to rotate her upper arms externally against resistance with her arms at her side
f. teres major (C5–C7) – ask her to rotate her upper arms internally against resistance
g. latissimus dorsi (C7, C8) – ask her to cough and palpate on both sides.
2. From the front:
a. pectoralis major, clavicular head (C5–C8) – ask the patient to lift her upper arms above the horizontal and push them forward
b. pectoralis major, sternocostal part (C6–T1) and pectoralis minor (C7) – ask her to adduct her upper arms against resistance
c. deltoid (C5, C6) (and circumflex nerve) – ask her to abduct her arms against resistance, but begin with her arms more than 15° from her sides.
3. Go on to look for sensory changes, which will be absent if this is a muscular dystrophy.
If FSH is suspected (facial muscle wasting and winging of the scapulae), look for foot drop and then test for facial weakness (inability to close the eyes tightly, whistle or puff out the cheeks).
‘This 60-year-old man has had difficulty walking. Please examine his lower limbs.’
Method (see Table 16.55)
Lower limb neurological examination
1. Test the gait first. Ask the examiners whether this is possible – sometimes the patient may be unable to walk. If the patient can walk, ask him to walk across the room, turn around and walk back. If he looks to be in difficulty, ask the proctor attendant to help. Ask the patient to try heel-to-toe walking (for cerebellar disease) and then try standing and then walking on toes and heels (for an S1 or L4/L5 lesion, respectively). Ask him to squat and stand (for proximal myopathy).
Specific testing of gait should help you decide whether there is an ataxic or high stepping gait (cerebellar or proprioceptive problems) or muscle weakness (proximal or distal, or both).
2. Note the patient’s general appearance. Especially look for upper limb girdle wasting and the presence of a urinary catheter. Look for pes cavus. Look around the room for a walking stick or frame and special shoes.
3. Have the patient lie in bed with the legs entirely exposed. Place a towel over the groin. Look at the patient’s back for scars.
4. Look for muscle wasting and fasciculation. Note any tremor. Feel the muscle bulk of the quadriceps and run your hand up each shin, feeling for wasting of the anterior tibial muscles.
5. Test tone at the knees and ankles.
6. Test clonus at this time. Warn the patient first. Push the patella sharply downwards. Sustained rhythmical contractions indicate an upper motor neurone lesion. Also test the ankle by sharply dorsiflexing the foot with the knee bent and the thigh externally rotated. Always test both sides!
7. Assess power next.
• flexion (L2, L3): ask the patient to lift up his straight leg and not let you push it down (having placed your hand above his knee)
• extension (L5, S1, S2): ask him to keep his leg down and not let you pull it up
• abduction (L4, L5, S1): ask him to abduct his legs and not let you push them together
• adduction (L2, L3, L4): ask him to keep his legs adducted and not let you pull them apart.
• flexion (L5, S1): ask him to bend his knee and not let you straighten it
• extension (L3, L4): with the knee slightly bent, ask him to straighten the knee and not let you bend it.
• plantar flexion (S1): ask him to push his foot down and not let you pull it up
• dorsiflexion (L4, L5): ask him to bring his foot up and not let you push it down
• eversion (L5, S1): ask him to evert his foot against resistance; loss of this may also indicate a common peroneal (lateral popliteal) nerve palsy
• inversion (L5): ask him to invert his plantar flexed foot against resistance.
8. Elicit the reflexes:
a. knee (L3, L4) – quadriceps muscle
b. ankle (S1, S2) – calf muscle
c. plantar response (S1).
9. Test coordination with the heel–shin test, toe–finger test and tapping of the feet (p. 458).
10. Examine the sensory system as for the upper limbs: pin prick, then vibration and proprioception, and then light touch (see Fig 16.95).
FIGURE 16.95 Dermatomes of the lower limb.
Sensory changes can be variable. If sensory loss is not quite consistent but seems generally to fit a pattern, it may be a good idea to describe it confidently as ‘patchy’.
11. If there is a peripheral sensory loss, attempt to establish a sensory level on the abdomen.
12. Examine the saddle region sensation (S3–5).
13. Ask to test the anal reflex (S2–4); if intact, there is brief contraction of the external sphincter of the anus to scratching of the perianal skin.
14. If you have not done this already go to the back. Look for deformity, scars and neurofibromata. Palpate for tenderness over the vertebral bodies and auscultate for bruits. Test straight leg raising.
15. It may be relevant to ask whether you can proceed to the upper limbs and cranial nerves.
Notes on the neurological examination of the limbs
Grading muscle power (Medical Research Council)
0. Complete paralysis.
1. Flicker of contraction.
2. Movement with no gravity.
3. Movement with gravity only (any resistance stops movement).
4. Movement with gravity plus some resistance.
5. Normal power.
This grading is weighted towards severe weakness (grades 0–3 are all severe). A more sensible scale would be the following:
1. Complete paralysis.
2. Severe weakness.
3. Moderate weakness.
4. Mild weakness.
Signs of a lower motor neurone lesion
4. Decreased or absent reflexes.
5. Fasciculation (prominent in anterior horn cell diseases unless far advanced).
Signs of an upper motor neurone lesion
1. Weakness in an ‘upper motor neurone pattern’; all muscle groups are weak, but may be more marked in upper limb abductor and extensor muscles – shoulder abduction, elbow and wrist extensors – and lower limb flexor muscles – hip flexion, knee flexion, ankle dorsiflexion.
4. Increased reflexes and extensor plantar response.
An approach to peripheral neuropathy
This may be sensory (glove and stocking) or motor, or both.
CAUSES OF PERIPHERAL NEUROPATHY
But remember: diabetes 30%, hereditary 30%, idiopathic 30%, all others 10%.
1. Drugs and toxins – isoniazid, vincristine, phenytoin, nitrofurantoin, cisplatinum, amiodarone, large doses of vitamin B6, heavy metals.
2. Alcohol (with or without vitamin B1 deficiency); amyloidosis.
3. Metabolic – diabetes mellitus, uraemia, hypothyroidism, porphyria.
4. Immune-mediated – Guillain-Barré syndrome.
5. Tumour – lung carcinoma.
6. Vitamin B12 or B1 deficiency or B6 excess.
8. Connective tissue diseases or vasculitis – SLE, polyarteritis nodosa.
CAUSES OF A PREDOMINANTLY MOTOR NEUROPATHY
1. Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).
2. Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease) (Fig 16.97).
FIGURE 16.97 Classical appearance in the lower legs in a patient with Charcot-Marie-Tooth disease. D W Howcroft, S Kumar, N Makwana. Orthopaedics and trauma. 23(4):274–277, Fig 1. Elsevier, 2009, with permission.
3. Acute intermittent porphyria.
4. Diabetes mellitus.
5. Lead poisoning.
6. Multifocal motor neuropathy.
Motor neurone disease and neuromuscular junction disorders must always be considered in the differential diagnosis of distal motor weakness.
CAUSES OF A PREDOMINANTLY SENSORY NEUROPATHY (SENSORY NEURONOPATHY)
This is unusual and results in sensory ataxia and pseudoathetosis. Causes include the following:
1. carcinoma (e.g. lung, ovary, breast)
3. vitamin B6 intoxication
4. Sjögren’s syndrome
5. diabetes mellitus
7. vitamin B12 deficiency (occasionally)
CAUSES OF A PAINFUL PERIPHERAL NEUROPATHY
1. Diabetes mellitus.
3. Vitamin B12 or B1 deficiency.
6. Arsenic or thallium poisoning.
7. Heredity (most are not painful).
Burning soles of the feet can be caused by a painful peripheral neuropathy, tarsal tunnel syndrome or an S1 lesion. An S1 lesion will cause a decreased or absent ankle jerk.
CAUSES OF MONONEURITIS MULTIPLEX
Mononeuritis multiplex refers to separate involvement of more than one peripheral or rarely cranial nerve (e.g. a common peroneal nerve palsy plus an axillary nerve palsy). Common causes include:
1. acute (usually vascular):
a. diabetes mellitus
b. polyarteritis nodosa or connective tissue diseases – SLE, rheumatoid arthritis.
a. multiple compressive neuropathies, especially with joint-deforming arthritis
e. Lyme disease
f. carcinoma (rare)
CAUSES OF THICKENED NERVES
1. Hereditary motor and sensory neuropathy.
3. Chronic inflammatory demyelinating polyradiculoneuropathy.
6. Others – sarcoidosis, neurofibromatosis.
CAUSES OF FASCICULATION
Fasciculation is not always motor neurone disease. Causes include:
1. benign idiopathic fasciculation (by far the most common)
2. motor neurone disease
3. motor root compression
4. malignant neuropathy
5. any motor neuropathy (less commonly).
Myokymia resembles benign coarse fasciculation of the same muscle group (e.g. eyelids). Electromyographic myokymia can occur in multiple sclerosis, brain stem neoplasm, Bell’s palsy, radiculopathy or radiation plexopathy or chronic nerve compression.
Hereditary motor and sensory neuropathy (HMSN)
Charcot-Marie-Tooth disease: usually autosomal dominant (see Fig 16.96).
FIGURE 16.96 Typical clinical manifestations of a cavovarus foot deformity in a 55-year-old man who has CMT. This deformity is characterised by different components: (a) hindfoot varus and equinus (hind- or forefoot) and forefoot pronation, and (b) cavus, flexion deformity of the first metatarsal, and claw toes. T Dreher, S Hagmann, W Wenz. Reconstruction of multiplanar deformity of the hindfoot and midfoot with internal fixation techniques. Foot and Ankle Clinics, 2009. 14(3):489–531.
1. Pes cavus (short, high-arched feet with hammer toes).
2. Distal muscle atrophy owing to peripheral nerve degeneration, not usually extending above the elbows or above the middle one-third of the thighs.
3. Absent reflexes.
4. Slight to no sensory loss in the limbs.
5. Thickened nerves.
6. Optic atrophy; Argyll Robertson pupils (rare).
An approach to brachial plexus lesions
1. Lower motor neurone signs affect the whole arm.
2. Sensory loss (whole limb).
3. Horner’s syndrome (an important clue, but only if the lesion is proximal in the lower plexus).
Remember always to feel for axillary lymphadenopathy at the end of your examination for a brachial plexus lesion.
UPPER TRUNK (ERB-DUCHENNE) (C5, C6) LESION
1. Loss of shoulder movement and elbow flexion – hand is held in the ‘waiter’s tip’ position.
2. Sensory loss is present over the lateral aspect of the arm and forearm, and over the thumb.
LOWER TRUNK (KLUMPKE) (C8, T1) LESION
1. True claw hand with paralysis of all the intrinsic muscles.
2. Sensory loss along the ulnar side of the hand and forearm.
3. Horner’s syndrome.
CERVICAL RIB SYNDROME
1. Weakness and wasting of the small muscles of the hand (true claw hand).
2. Sensory loss over the medial aspect of the hand and forearm.
3. Unequal radial pulses and blood pressures.
4. Subclavian bruit and loss of the pulse on arm manoeuvring (this sign is often also present in normal persons).
5. Palpable cervical rib in the neck (uncommon).
Important peripheral nerves
RADIAL NERVE (C5–C8) LESION
1. Wrist and finger drop (wrist flexion normal).
2. Triceps loss (elbow extension loss) if lesion is above the spiral groove.
3. Sensory loss over the anatomical snuff box.
4. Finger abduction appears to be weak because of the difficulty of spreading the fingers when they cannot be straightened.
MEDIAN NERVE (C6–T1) LESION
This nerve supplies all muscles on the front of the forearm except flexor carpi ulnaris and half of flexor digitorum profundus. It also supplies the following short muscles of the hand (LOAF):
Lateral two lumbricals
Abductor pollicis brevis
Flexor pollicis brevis (this sometimes has ulnar innervation)
1. Loss of abductor pollicis brevis with a lesion at or above the wrist – pen touching test: with the hand flat, ask the patient to abduct the thumb vertically to touch your pen.
2. Loss of flexor digitorum sublimis with a lesion in or above the cubital fossa – Ochsner’s clasping test: ask the patient to clasp the hands firmly together – the index finger on the affected side fails to flex.
3. Sensory loss over the thumb, index, middle and lateral half of the ring finger (palmar aspect only).
Causes of carpal tunnel syndrome:
2. arthropathy – rheumatoid arthritis
3. endocrine disease – hypothyroidism, acromegaly
5. trauma and overuse.
ULNAR NERVE (C8–T1) LESION
1. Wasting of the intrinsic muscles of the hand (except LOAF muscles).
2. Weak finger abduction and adduction (loss of interosseous muscles).
3. Ulnar claw-like hand (Note: A higher lesion causes less deformity, as an above-the-elbow lesion also causes loss of flexor digitorum profundus.).
4. Froment’s sign: ask the patient to grasp a piece of paper between the thumb and lateral aspect of the forefinger with each hand – the affected thumb will flex (loss of thumb adductor).
5. Sensory loss over the little and medial half of ring finger (both palmar and dorsal aspects).
WASTING OF THE SMALL MUSCLES OF THE HAND (FIG 16.98)
Examine as for the upper limbs and make sure you feel the pulses and examine the neck, unless the cause is very obvious (e.g. rheumatoid arthritis).
FIGURE 16.98 Wasting the small muscles of the hands. J Nicklin. Disorders of nerve II: polyneuropathies. In Physical management in neurological rehabilitation, 2nd edn. Fig 14.1. Mosby, Elsevier, 2004, with permission.
1. Nerve lesions:
a. median and ulnar nerve lesions
b. brachial plexus lesions
c. peripheral motor neuropathy (in the examination, don’t forget hereditary motor and sensory neuropathy).
2. Anterior horn cell disease:
a. motor neurone disease
c. spinal muscular atrophies (e.g. Kugelberg-Welander disease).
a. dystrophia myotonica – forearms more affected than the hands
b. distal myopathy.
4. Spinal cord lesions:
b. cervical spondylosis with compression of C8 segment
c. other (e.g. tumour).
5. Trophic disorders:
a. arthropathies (disuse)
b. ischaemia, including vasculitis
c. shoulder–hand syndrome.
When distinguishing an ulnar nerve lesion from a C8 root/lower trunk brachial plexus lesion, remember that the sensory loss of a C8 lesion extends proximal to the wrist and the thenar muscles are involved with a C8 root or lower trunk brachial plexus lesion. Distinguishing a C8 root from a lower trunk brachial plexus lesion is difficult clinically, but the presence of Horner’s syndrome or an axillary mass suggests that the brachial plexus is affected.
FEMORAL NERVE (L2, L3, L4) LESION
1. Weakness of knee extension (quadriceps paralysis).
2. Slight hip flexion weakness.
3. Preserved adductor strength.
4. Loss of knee jerk.
5. Sensory loss involving the inner aspect of the thigh and leg.
SCIATIC NERVE (L4, L5, S1, S2) LESION
1. Weakness of knee flexion (hamstrings involved).
2. Loss of power of all muscles below the knee causing a foot drop, so the patient may be able to walk, but cannot stand on the toes or heels.
3. Knee jerk intact.
4. Loss of ankle jerk and plantar response.
5. Sensory loss along the posterior thigh and total loss below the knee.
COMMON PERONEAL (LATERAL POPLITEAL) NERVE (L4, L5, S1) LESION
1. Foot drop and loss of foot eversion only.
2. Sensory loss (minimal) over the dorsum of the foot.
Note: The reflexes are normal.
If there is a foot drop, test foot inversion and eversion. Inversion of the foot will be normal with a peroneal nerve compression but absent with a L5 radiculopathy. (Eversion is absent with both lesions.)
LATERAL CUTANEOUS NERVE OF THE THIGH LESION
Meralgia paraesthetica is caused by compression of this nerve, which may result in sensory loss and/or hyperaesthesia over the lateral aspect of the thigh, but no motor loss.
CAUSES OF FOOT DROP (FIG 16.99)
FIGURE 16.99 Foot drop in 45-year-old patient with amyotrophic lateral sclerosis. R B Daroff. Bradley’s neurology in clinical practice, 6th edn. Fig 74.5. Saunders, Elsevier, 2010, with permission.
1. Common peroneal nerve palsy.
2. Sciatic nerve palsy.
3. Lumbosacral plexus lesion.
4. L4, L5 root lesion.
5. Peripheral motor neuropathy.
6. Distal myopathy.
7. Motor neurone disease.
8. Precentral gyrus lesion.
Remember, if there is a foot drop, test the ankle jerk carefully. As a very rough rule of thumb, if it is absent, an S1 lesion should be suspected; if it is normal, a common peroneal palsy should be considered; if it is increased, an upper motor neurone lesion is likely.
Notes on spinal cord lesions
Assessment of the paraplegic patient
1. Is there also a sensory level? Patterns of sensory loss depend on the level and type of lesion. Consider:
a. cord compression, which causes a loss of all modalities bilaterally below the level involved (note: extrinsic compression may spare the perineum), and radicular pain and lower motor neurone weakness are present at the level of spinal compression
b. transverse myelitis
c. anterior spinal artery occlusion (posterior column function is spared)
d. intrinsic cord lesion
e. multiple sclerosis.
2. Back examination: for example, deformity, tenderness or bruits may provide clues about the underlying disease process.
3. Arm involvement? Consider:
a. cervical spondylosis
c. motor neurone disease
d. multiple sclerosis.
4. Cranial nerve lesions? Consider:
a. motor neurone disease
b. multiple sclerosis.
5. Peripheral neuropathy? Consider:
a. vitamin B12 deficiency
b. Friedreich’s ataxia
d. hereditary spastic paraplegia
Intracranial lesions (e.g. parasagittal meningioma) cause paraplegia in extension only, whereas spinal cord lesions cause paraplegia in flexion or extension (i.e. flexor reflexes are released with spinal lesions).
Important motor and reflex changes of spinal cord and conus compression
Lower motor neurone signs occur at the level of the root lesion and upper motor neurone signs occur below the lesion.
1. Upper motor neurone signs in the upper and lower limbs.
2. Paralysis of the diaphragm occurs with a lesion above C4.
1. Lower motor neurone weakness and wasting of the rhomboids, deltoids, biceps and brachioradialis.
2. Upper motor neurone signs affect the rest of the upper and all the lower limbs.
3. The biceps jerk is lost.
4. The supinator jerk is ‘inverted’.
1. Lower motor neurone weakness and wasting of the intrinsic muscles of the hand.
2. Upper motor neurone signs in the lower limbs.
1. Intercostal paralysis (cannot be detected clinically).
2. Loss of upper abdominal reflexes at T7 and T8.
3. Upper motor neurone signs in the lower limbs.
1. Loss of the lower abdominal reflexes and upward displacement of the umbilicus on contraction (Beevor’s sign).
2. Upper motor neurone signs in the lower limbs.
1. Cremasteric reflexes lost (normal abdominal reflexes).
2. Upper motor neurone signs in the lower limbs.
1. Lower motor neurone weakness and wasting of the quadriceps.
2. Knee jerk lost.
L5 and S1
1. Lower motor neurone weakness of knee flexion and hip extension (S1) and abduction (L5), plus calf and foot muscles.
2. Knee jerk present.
3. No ankle jerk or plantar response.
4. Anal reflex present.
1. No anal reflex.
2. Saddle sensory loss.
3. Normal lower limbs.
Look for a urinary catheter if suspicious of a spinal cord lesion – in fact, always look for one.
SUBACUTE COMBINED DEGENERATION OF THE CORD (VITAMIN B12 DEFICIENCY)
1. Symmetrical posterior column loss (vibration and position sense), causing an ataxic gait.
2. Symmetrical upper motor neurone signs in the lower limbs with absent ankle reflexes; knee reflexes may be absent or, more often, exaggerated.
3. Peripheral sensory neuropathy (less common and mild).
4. Optic atrophy (occasionally).
5. Dementia (occasionally).
The combination of upper motor neurone signs causing an extensor plantar response plus peripheral neuropathy causing loss of knee and ankle jerks is a distinctive pattern.
Causes of an extensor plantar response plus absent ankle jerk include:
1. subacute combined degeneration of the cord (vitamin B12 deficiency)
2. conus medullaris lesion
3. combination of an upper motor neurone lesion with cauda equina compression or peripheral neuropathy
4. syphilis (tabo-paresis)
5. Friedreich’s ataxia
6. diabetes mellitus (uncommon)
7. adrenoleucodystrophy or metachromatic leucodystrophy.
BROWN-SÉQUARD SYNDROME (HEMISECTION OF THE SPINAL CORD)
1. Motor changes:
a. upper motor neurone signs below the hemisection on the same side as the lesion
b. lower motor neurone signs at the level of the hemisection on the same side.
2. Sensory changes:
a. pain and temperature loss on the opposite side of the lesion (note: the upper level of sensory loss is usually a few segments below the level of the lesion)
b. vibration and proprioception loss on the same side
c. light touch is often normal
d. there may be a band of sensory loss on the same side at the level of the lesion (afferent nerve fibres).
1. Multiple sclerosis.
6. Postradiation myelopathy.
CAUSES OF DISSOCIATED SENSORY LOSS (USUALLY INDICATES SPINAL CORD DISEASE, BUT MAY OCCUR WITH PERIPHERAL NEUROPATHY)
Spinothalamic (pain and temperature) loss only
1. Syringomyelia (‘cape’ distribution).
2. Brown-Séquard syndrome (contralateral leg).
3. Anterior spinal artery thrombosis.
4. Lateral medullary syndrome (contralateral to the other signs).
5. Peripheral neuropathy (e.g. diabetes mellitus, amyloid, Fabry’s disease).
Dorsal column (vibration and proprioception) loss only
1. Subacute combined degeneration.
2. Brown-Séquard syndrome (ipsilateral leg).
3. Spinocerebellar degeneration (e.g. Friedreich’s ataxia).
4. Multiple sclerosis.
5. Tabes dorsalis.
6. Sensory neuropathy or ganglionopathy (e.g. carcinoma).
7. Peripheral neuropathy from diabetes mellitus or hypothyroidism.
SYRINGOMYELIA (A CENTRAL CAVITY IN THE SPINAL CORD)
1. Loss of pain and temperature over the neck, shoulders and arms (‘cape’ distribution).
2. Amyotrophy (weakness, atrophy and areflexia) of the arms.
3. Upper motor neurone signs in the lower limbs.
Note: There may also be thoracic scoliosis owing to asymmetrical weakness of the paravertebral muscles.
An approach to myopathy
CAUSES OF PROXIMAL MUSCLE WEAKNESS
1. Myopathic (see below).
2. Neuromuscular junction disorder – myasthenia gravis.
3. Neurogenic – Kugelberg-Welander disease (proximal muscle wasting and fasciculation as a result of anterior horn cell damage – autosomal recessive), motor neurone disease, polyradiculopathy.
CAUSES OF MYOPATHY
1. Hereditary muscular dystrophy (qv).
2. Congenital myopathies (rare).
3. Acquired (mnemonic PACE PODS):
Polymyositis or dermatomyositis (Figs 16.100 and 16.101)
FIGURE 16.100 Dermatomyositis. Gottron’s papules consisting of purplish-red, slightly scaling plaques on the extensor surfaces of the finger joints and knees. H B Pride. Pediatric dermatology, 1st edn. Fig. 12-5. Saunders, Elsevier, 2008, with permission.
FIGURE 16.101 Heliotrope rash in a patient with dermatomyositis. W D James et al. Andrews’ diseases of the skin: clinical dermatology, 11th edn. Fig 8-15. Saunders, Elsevier, 2011, with permission.
Endocrine (e.g. hypothyroidism, hyperthyroidism, Cushing’s syndrome,
Periodic paralysis (hyperkalaemic or hypokalaemic or normokalaemic)
Drugs (e.g. clofibrate, chloroquine, steroids)
Note: Causes of proximal myopathy and a peripheral neuropathy include:
1. paraneoplastic syndrome
3. connective tissue disease.
1. Duchenne’s (pseudohypertrophic) (sex-linked recessive disorder) (Fig 16.102):
FIGURE 16.102 Duchenne’s muscular dystrophy. R B Daroff. Bradley’s neurology in clinical practice, 6th edn. Fig 79.9. Saunders, Elsevier, 2010, with permission.
a. affects only males (or females with Turner’s syndrome) (Fig 16.103a and b)
FIGURE 16.103 (a) and (b) Muscular dystrophy facies. V Laina, A Orlando. Bilateral facial palsy and oral incompetence due to muscular dystrophy treated with a palmaris longus tendon graft. Journal of Plastic, Reconstructive and Aesthetic Surgery, 2008. Figs 2a and b.
b. the calves and deltoids are hypertrophied early and weak later
c. early proximal weakness
d. tendon reflexes are preserved in proportion to muscle strength
e. severe progressive kyphoscoliosis
f. heart disease (dilated cardiomyopathy)
g. creatine kinase level markedly elevated
h. patients die in the second decade, usually from heart disease.
2. Becker (sex-linked recessive disorder): same features as Duchenne’s, but less severe, has a later onset and is less rapidly progressive.
3. Limb girdle (autosomal recessive):
a. shoulder or pelvic girdle affected (onset third decade)
b. face and heart usually spared.
4. Facioscapulohumeral (autosomal dominant): facial and pectoral girdle weakness with hypertrophy of the deltoids (normal pelvic muscles early).
5. Distal dystrophies:
a. autosomal dominant disease, which is rare and causes distal muscle atrophy and weakness
b. dystrophia myotonica (autosomal dominant).
TESTS FOR MYOPATHY
1. Creatine kinase (highest in Duchenne’s).
3. ECG (particularly Duchenne’s and dystrophia myotonica).
4. Muscle biopsy.
‘This 67-year-old man has noticed some arm weakness. Please examine him.’
Standing back to observe the patient, you fortunately notice the features of myotonic dystrophy (Fig 16.104). Proceed as follows.
FIGURE 16.104 Dystrophia myotonica with frontal balding and bilateral ptosis. G Douglas. The general examination. Macleod’s clinical examination, 3rd edn. Fig. 3.11. 41–62. Churchill Livingstone, Elsevier, 2013, with permission.
1. Observe the face for frontal baldness (the patient may be wearing a wig), dull triangular facies (‘hatchet’ face), temporalis, masseter and sternomastoid atrophy, and partial ptosis. Note thick spectacles, as these patients develop cataracts and fine subcapsular deposits, which are virtually diagnostic.
2. Look at the neck for sternomastoid atrophy, then test neck flexion (neck flexion is weak, while extension is normal).
3. Go to the upper limbs. Shake hands (for grip myotonia) and test percussion myotonia. Tapping over the thenar eminence causes contraction then slow relaxation of the abductor pollicis brevis (see Table 16.56).
Causes of myotonia
Note: Drugs (e.g. clofibrate) can also cause myotonic discharges on EMG, but do not cause clinical myotonia.
4. Examine the arm now for signs of wasting and weakness, especially of the forearm muscles. Sensory changes from the associated peripheral neuropathy are usually very mild.
5. Go to the chest and inspect for gynaecomastia.
6. Ask to palpate the testes for atrophy.
7. Examine the lower limbs if there is time.
8. Always ask to test the urine for sugar (diabetes mellitus is more common in this disease) and to examine the cardiovascular system for cardiomyopathy. Finally test mental status (mild mental retardation is usual).
Remember the classic EMG finding in dystrophia myotonica of a ‘dive bomber’ effect with needle movement in the muscle at rest.
‘Please examine this man’s gait.’
Method (see Table 16.57)
1. Scan the room for a walking stick or frame or special shoes.
2. Make sure the patient’s legs are clearly visible. Ask him to ‘hop out’ of his bed or chair (look carefully while he is doing so for focal disease), watch him walk normally for a few metres and then ask him to turn around quickly and walk back towards you.
3. Next ask him to walk heel-to-toe to exclude a midline cerebellar lesion.
4. Ask him to walk on his toes (an S1 lesion will make this difficult) and then on his heels (a lesion causing foot drop will make this difficult).
5. Test for proximal myopathy by asking the patient to squat and then stand up, or sit in a chair and then stand.
6. Look for Romberg’s sign (posterior column loss causes inability to stand steadily when the feet are together with the eyes closed, whereas cerebellar disease causes difficulty when the eyes are open too).
7. Go on to examine the lower limbs depending on your findings. The typical gaits to recognise are listed in Table 16.58.
‘This 30-year-old man has noticed a problem with his coordination. Please examine him.’
This patient is likely to have a cerebellar problem (see Table 16.59). The only other likely possibilities are posterior column loss or extrapyramidal disease. Proceed as follows for assessment of cerebellar disease.
Causes of cerebellar disease
1. Test gait (the patient will stagger towards the affected side unless the problem is bilateral or involves the vermis).
2. Go on to examine the legs. Test tone here.
3. Ask the patient to perform the heel–shin test, looking for accuracy of fine movement when the patient slides his heel down the shin quickly on each side for several cycles.
If cerebellar testing seems normal but Romberg’s test was positive, test position and vibration sense.
4. Next ask the patient to lift his big toe up to touch your finger, looking for intention tremor. Ask him to tap each foot rapidly on a firm surface.
Subtle cerebellar changes may be obvious only if the test is made more difficult. Ask the patient to lift the leg in an arc before placing it back on the top of the shin.
5. Look now for nystagmus, usually jerky horizontal nystagmus with an increased amplitude on looking towards the side of the lesion.
6. Assess speech. Ask the patient to say ‘British Constitution’ or ‘West Register Street’. Cerebellar speech is jerky, explosive and loud, with irregular separation of syllables.
7. Go to the upper limbs. Ask the patient to extend his arms and look for arm drift and static tremor as a result of hypotonia of the agonist muscles. Test tone. Hypotonia is caused by loss of a facilitatory influence on the spinal motor neurones in acute unilateral cerebellar disease.
8. Next ask the patient to perform the finger–nose test – the patient touches his nose, then rotates his finger and touches your finger. Note any intention tremor (erratic movements increasing as the target is approached owing to loss of cerebellar connections with the brain stem) and past pointing (the patient overshooting the target).
9. Test rapid alternating movements; the patient taps alternately the palm and back of one hand on his other hand or thigh. Inability to perform this movement smoothly is called dysdiadochokinesis.
10. Test rebound – ask the patient to lift his arms quickly from the sides and then stop. Hypotonia causes the patient to be unable to stop his arms. Always demonstrate each movement for the patient’s benefit, asking him to copy you.
11. Look for truncal ataxia by asking the patient to fold his arms and sit up. While he is sitting, ask him to put his legs over the side of the bed, and then test for pendular knee jerks.
12. If there is time, look for possible causes of the problem. If there is an obvious unilateral lesion, auscultate over the cerebellum, then proceed to the cranial nerves and look for evidence of a cerebellopontine angle tumour (fifth, seventh, eighth cranial nerves affected) and the lateral medullary syndrome.
13. Always look in the fundi for papilloedema.
14. Next examine for peripheral evidence of malignant disease and vascular disease (carotid bruits).
15. If there is a midline lesion only (i.e. truncal ataxia or abnormal heel–toe walking or abnormal speech), consider either a midline tumour or a paraneoplastic syndrome. If there is bilateral disease, look for signs of multiple sclerosis, Friedreich’s ataxia (pes cavus being the most helpful initial clue) (see Tables 16.60 and 16.61) and hypothyroidism (rare). Alcoholic cerebellar degeneration (which affects the anterior lobe of the cerebellar vermis) classically spares the arms.
Clinical features of Friedreich’s ataxia (autosomal recessive)
Causes of pes cavus
16. If there are, in addition, upper motor neurone signs, consider the causes in Table 16.62.
Causes of spastic and ataxic paraparesis (upper motor neurone and cerebellar signs combined)
Don’t forget, common unrelated diseases (e.g. cervical spondylosis and cerebellar degeneration from alcohol) may occur together by chance.
‘This 80-year-woman has Parkinson’s disease. Please assess the severity of the condition.’
1. Look at her first. Note the obvious lack of facial expression (‘mask-like’) and paucity of movement.
2. Ask her to walk, turn quickly and stop, and restart. Note particularly difficulty starting, shuffling, freezing and festination. It is probably a little dangerous to look for propulsion or retropropulsion (see Table 16.58).
3. Ask the patient to return to bed and look for a resting tremor with the arms relaxed (see Table 16.63). The characteristic movement is described as pill rolling and may be unilateral early on.
A classification of tremor
Note: Flapping (asterixis) is not strictly a tremor but rather a sudden brief loss of tone in hepatic failure, cardiac failure, respiratory failure or renal failure.
4. On finger–nose testing, a resting tremor diminishes, but an action tremor may appear. Test wrist tone, feeling for cogwheel or lead pipe rigidity. Reinforce this by asking her to turn her head from side to side.
5. Test for abnormal rapid alternating movements. Look also for involuntary movements produced by medication use.
6. Go to the face. Note tremor, absence of blinking, dribbling of saliva and lack of expression. Test the glabellar tap: the sign is positive (Wilson’s sign) when the patient continues to blink after the middle finger taps several times over the glabella from behind – it is important that your finger is out of her line of vision.
7. Test speech, which is typically monotonous, soft, poorly articulated and faint.
8. Look at the ocular movements for supranuclear gaze palsies. Feel for a greasy or sweaty brow (owing to autonomic dysfunction).
9. Ask the patient to write (looking for micrographia) and test the frontal lobe reflexes and higher centres (looking for evidence of dementia).
10. Ask to test for postural hypotension.
11. Present your assessment of the degree of disability and whether the main problem is rigidity or tremor. Is there evidence or autonomic dysfunction or gaze palsy?
Causes of Parkinsonism
1. Idiopathic (Parkinson’s disease).
2. Drugs (e.g. phenothiazines, methyldopa).
4. Other – toxins (carbon monoxide, manganese), Wilson’s disease, Steele-Richardson syndrome, Shy-Drager syndrome, syphilis, tumour. Note: Atherosclerosis is controversial as a cause of Parkinsonism.
‘Please examine this man’s arms.’
Happily you notice an extrapyramidal choreiform movement disorder. Choreiform movements are non-repetitive, abrupt, involuntary, more distal jerky movements, which the patient often attempts to disguise by completing the involuntary movement with a voluntary one. The condition is caused by a lesion of the corpus striatum.
• Hemiballismus is unilateral and usually involves rotary movements of proximal joints. It is caused by a subthalamic nucleus lesion on the opposite side.
• Athetosis means slow, sinuous distal writhing movements at rest. It is caused by a lesion of the outer segment of the putamen.
If the patient has chorea, proceed as follows.
1. First shake the patient’s hand, for a lack of sustained grip (‘milkmaid grip’).
2. Ask the patient to hold his hands out and look for a choreic posture (finger and thumb hyperextension and wrist flexion as a result of hypotonia). Note any signs of vasculitis.
3. Go to the face and look at the eyes for exophthalmos, Kayser-Fleischer rings and conjunctival injection (ataxia-telangiectasia). Ask the patient to poke his tongue out and note a serpentine tongue (moving in and out). Notice any rash (e.g. SLE).
4. If the patient is young, examine the heart for signs of rheumatic fever.
5. Test the knee jerks (pendular) and the higher centres (for Huntington’s disease). The causes of chorea are summarised in Table 16.64.
Causes of chorea
1Ludwig Traube described a space defined superiorly by the sixth rib, laterally by the mid-axillary line and inferiorly by the left costal margin, which is normally resonant to percussion. It becomes dull if the spleen is enlarged or there is a left-sided pleural effusion. If this area is resonant it is very unlikely the spleen will be palpable by any other manoeuvre.