Jansenkoh Mrcp Paces

MRCP PACES by Jansen Koh (http://jansenkoh.com/MRCPnotes.htm) CARDIO 1. Mitral regurgitation 2 2. Mitral valve prolapse 7 3. Mitral stenosis 8 4. Aortic regurgitation 10 5. Aortic stenosis 12 6. Mixed mitral valve disease 14 7. Mixed aortic valve disease 15 8. Prosthetic heart valves 16 9. VSD 18 10. ASD 20 11. HOCM 22 12. Approach to central cyanosis and clubbing 24 13. Dextrocardia 25 RESPI 14. Bronchiectasis 26 15. Interstitial lung disease 30 16. COPD 33 17. Pleural effusion 35 18. Collapse 38 19. Consolidation 40 20. Lobectomy/Pneumonectomy 44 21. Approach to lateral thoracotomy scar 45 22. Lung transplant 46 ABDO 23. Chronic liver disease 48 24. Hepatomegaly 54 25. Splenomegaly 56 26. Hepatosplenomegaly 58 27. Ascites 60 28. Unilateral enlarged kidney 63 29. Bilateral enlarged kidney 64 30. Transplanted kidney 67 NEURO 31. Approach to examination of the face 70 32. Cranial nerve syndromes 71 33. Isolated III nerve palsy 74 34. Isolated VI nerve palsy 76 35. VII nerve palsy 79 36. Myasthenia gravis 82 37. Approach to examination of the eyes 85 38. Gaze palsies 86 39. Unilateral ptosis 87 40. Bilateral ptosis 89 III, IV and VI cranial nerve palsies (33, 34, 35) 41. Assessment of higher cortical function 90 UPPER LIMBS (NEURO) 42. Upper limbs overview 92 43. Radial nerve palsy 94 44. Median nerve palsy 96 45. Ulnar nerve palsy 99 46. Wasted hands 101 Peripheral neuropathy (54) 47. Syringomyelia 104 48. Dystrophica myotonica 106 49. Cerebellar signs 109 50. Chorea 114 Parkinsonism (61)

LOWER LIMBS (NEURO) 51. Lower limbs overview 116 52. Flaccid paraparesis 118 53. Spastic paraparesis 123 54. Peripheral neuropathy 129 55. Charcot‟s Joint 131 56. Proximal myopathy 133 57. Brown-sequard syndrome 135 58. Footdrop 136 59. Hemiparesis/Hemiplegia 137 60. Gait assessment 140 61. Parkinsonism 141 RHEUMATO 62. Rheumatoid arthritis 144 63. Gouty hands 146 64. Psoriatic hands 149 65. OA of the hands 151 66. Scleroderma 153 67. Ankylosing Spondylitis 155 68. Marfan syndrome 157 69. Dupytren‟s contractures 160 70. Clubbed fingers 160 71. Painful/swollen knee joint 161 72. Still‟s disease/Juvenile chronic arthritis 161 73. Enteropathic arthropathy 161 74. Old rickets 162 ENDOCRINE 75. Acromegaly 163 76. Cushing‟s syndrome 165 77. Goitre 168 78. Paget‟s disease 174 79. Panhypopituitarism (Simmond‟s disease) 176 80. Addison‟s disease 177 81. Gynaecomastia 177 DERM 82. Dermatology overview 178 83. Psoriasis 181 84. Lichen planus 183 85. Neurofibromatosis 185 86. Purpura 187 87. Dermatomyositis 189 EYE 88. Diabetic retinopathy 191 89. Hypertensive retinopathy 195 90. Optic atrophy 197 91. Papilloedema 199 92. Central and branch retinal vein occlusion 201 93. Central retinal artery occlusion 203 94. Retinitis pigmentosa 204 95. Visual field defects 205 96. Visual acuity 207 97. Cataracts 207 98. Nystagmus 207 99. Pupillary defects 208 OTHERS 100. History-taking station 209

1

CARDIO! 1. Mitral Regurgitation Presentation Sir, this gentleman has mitral regurgitation that is moderately severe in nature. There is a pansystolic murmur heard best at the apex which radiates to the axilla. (If it radiates to the carotids – posterior mitral leaflet rupture) This is a grade 3/6 murmur and is not associated with a systolic thrill. The first heart sound is soft and there is presence of a third heart sound(S3). I did not detect any mid-diastolic murmur. The apex is thrusting and displaced, located at the th 6 IC at the anterior axillary line. This is complicated by pulmonary hypertension as evidenced by a palpable and loud pulmonary component of the second heart sound associated with a left parasternal heave. There are no clinical signs of heart failure. On the peripheral examination, patient is in atrial fibrillation with an irregularly irregular pulse which is rate controlled at 80 beats per min. There is no bruising to suggest overanticoagulation. There are also no stigmata of infective endocarditis. To complete the examination, I would like to take the patient‟s blood pressure, as well as temperature chart for any fever. (Mention abdominal examination, urine dipstick and fundoscopy if clinically suggestive of IE) In summary, this gentleman has mitral regurgitation that is moderately severe in nature, with complication atrial fibrillation and pulmonary hypertension. There are no complications of heart failure or infective endocarditis. My differential diagnoses include IHD, MVP and Rh heart disease. (If thoracotomy scar, think of mitral valvotomy for MS) Questions How do you grade the severity of mitral regurgitation clinically? Mild – No Pulm hypt Moderate – Pulmonary hypertension Severe – LVF, S3 What are the causes of mitral regurgitation? Common causes are MVP, IHD, Rh heart disease and endocarditis Left ventricular dilatation, cardiomyopathy, Marfan‟s, Rheumatoid, AS Acute causes: MI, IE, Trauma, Surgery, spontaneous rupture Anterior leaflet: radiates to axilla and back Posterior leaflet: radiates to carotids Mitral valvotomy if a thoracotomy scar seen If elderly and mild to moderate, typically due to annular calcification What are the differential diagnoses for a pansystolic murmur? MR TR VSD What congenital conditions can be associated with MR? Corrected TGA Partial AV canal Ostium primum atrial defect (cleft mitral valve) What causes a third heart sound? Rapid filling of the left ventricle from the large volume of blood from the left atrium occurring in early diastole Why is the pulse jerky? Pulse is sharp and abbreviated due to lack of sustained forward stroke volume with a reduced systolic ejection time because of regurgitant leak into the left atrium How do you differentiate an MDM from severe MR vs MS? MS has an opening snap Severe MR associated with S3 MS murmur is longer MS has loud S1 How do you differentiate between MR and TR murmur? Mitral Regurgitation Triscupid Regurgitation PSM heard best at Apex PSM heard best at the LLSE Radiates towards the axilla Radiates towards the right of sternum Louder on expiration Louder on inspiration Displaced apex beat Apex beat not displaced Jerky pulse character Normal pulse character Normal JVP unless complication Giant V wave with pulsatile liver

2

How do you differentiate between an MR murmur and that of a VSD? MR VSD Loudest at the apex Loudest at the LLSE High pitched Harsh, low pitched Soft S1 Normal S1 What are the types of dynamic manoeuvres that you are aware of and what are their uses? Respiration Murmurs on the right side louder on inspiration due to increased venous return and blood flow to the right side of heart Converse is true Valsalva manoeuvre (decrease preload) 3 phases Phase 1 – beginning of maneuver Rise in intrathoracic pressure and a transient increase in LV output Phase 2 – Straining phase Systemic return falls Reduced filling of the right and left heart chambers SV and BP drops while HR increases Most murmurs become softer and shorter except MVP – Systolic click and murmur begins earlier (LV size is smaller), ie longer and louder HOCM – murmur is louder as LV volume is reduced Phase 3 Release of maneuvre Right heart murmurs becomes louder followed by left heart murmurs Squatting (increases venous return and systemic arterial resistance) Most murmurs are louder MVP – click occurs later and murmur is shorter because LV size increased HOCM – LV size increased which reduced the obstruction to outflow and systolic murmur is softer Standing Most murmurs are softer except MVP – louder and longer and HOCM - louder Isometric exercises (increases afterload) AS – Softer murmur as there is reduction of pressure gradient across the valve MVP – click occurs later and murmur is shorter because LV size increased HOCM – LV size increased which reduced the obstruction to outflow and systolic murmur is softer MR/AR/VSD louder Amyl Nitrite inhalation Initial relative hypotension MR/AR/VSD decrease AS increases because of increased stroke volume Later tachycardia phase MS and right murmurs increase Can use to differentiate Austin Flint from MS What are the signs of severity for MR? Presence of S3 Short MDM Apex thrusting and displaced Pulmonary hypertension CCF What is the pathophysiology of MR? MR leads to LV overload Compensatory LV dilatation Eventually, decompensate resulting in heart failure and increased risk of sudden death Also, regurgitation into the LA leads to enlargement of LA with AF and elevated pulmonary pressures Should all murmurs be investigated? All should be Ix except 1. mid-systolic, grade 2 or < murmurs with no associated findings or symptoms 2. continuous murmurs of venous hum or mammary soufflé of pregnancy

3

How would you investigate this patient? ECG LA enlargement – P mitrale (II – P >0.12s, Limb; Bifid P waves in limb leads with inter-peak > 0.04s, terminal P negativity in V1) LVH – Sokolow & Lyon Criteria (S in V1 and R in V5 or 6 >35mm) AF Pulmonary hypertension CXR CCF – pulmonary congestion, enlarged heart Left atrial enlargement Pulmonary artery enlargement Echocardiogram Dx of MR Severity – EF 45mm Cause Complications eg IE Cardiac catheterisation Not indicated in most patients but useful if there is discrepancy between echocardiographic and clinical findings Useful to stenosis, regurgitation and intracardiac shunting How would you manage this patient? Education Medical therapy Antibiotic prophylaxis Treatment of underlying cause eg IHD, dilated CMP (Rx of CCF and afterload reduction) Treatment of complications eg AF, IE, CCF Surgical Indications Symptomatic or EF45mm Types of surgery Mitral valve repair if technical feasible is best Mitral valve replacement if technically not feasible provided EF >30% Controversial Varied causes for MR If due to IHD or dilated CMP, then Sx is controversial If due to MVP, timing of surgery Indicated if symptomatic, AF, pulmonary hypt, EF45 If asymptomatic, risk stratify according to regurgitant orifice(doppler) 40mm2 (this affects Px and closer follow up necessary) How do you diagnose infective endocarditis? Duke‟s criteria 2 Major, 1 Major 3 Minor or 5 minor Major Persistently positive blood c/s with typical organism Persistently positive blood c/s 2 or more positive c/s > 12h apart 3 or more positive c/s each 1 hr apart if 4 or more taken, >70% positive Typical organism Strep viridans, Strep bovis, enterococci, Staph aureus HACEK: Haemophilus, Actinobacillus, Cardiobacterium, Eikenella, Kingella Endocardial involvement Positive echocardiogram: vegetations, abscesses, valve perforation, dehiscence New valvular regurgitation Minor Predisposing heart condition Fever Vascular phenomena: arterial emboli, septic pulmonary emboli, mycotic aneurysm, ICH, Janeway lesion Immunologic phenomena: GN, Osler‟s nodes, Roth spots, Rh factor Positive blood c/s not satisfying major criteria Positive echocardiogram not satisfying major criteria

4

What are the types of endocarditis? Native valve endocarditis Strep, enterococci, Staph Rh, Cong HD, MVP with murmur and degenerative valvular disease Prosthetic Early(60 days): Similar to native endocarditis Fungal :IVDA and ICU IVDA: TV involvement, AV also; Staph aureus, MRSA, fungi, Strep, GNB How would you investigate? Bloods Blood C/S (as above) FBC (NCNC anaemia, raised TW with left shift), ESR, CRP 2D echo CXR, ECG How do you treat infective endocarditis? General measures Eg oxygen, treat fever Antibiotics IV CP 12-18MU/d 4H for 4 weeks Can also add IV gentamicin 1mg/kg 8H for first 2 weeks If allergic, use vancomycin 30mg/kg/d in 2 divided doses for 4 weeks HACEK organism: IV ceftriaxone MSSA: IV cefazolin or nafcillin or cloxacillin Surgery Heart failure Failure of medical therapy Presence of fever and inflammatory syndrome after 1 week of appropriate and adequate antibiotics Presence of mobile vegetation >10mm with 1 major embolism 1 week A/B Presence of mobile vegetation >15mm with 1 week of A/B Valvular complication eg valvular abscess, valvular obstruction, rupture into the pericardium, septal formation, fistula Fungal endocarditis Prosthetic valves esp if unstable or early(UL = Hill‟s sign How do you differentiate an Austin Flint murmur from mitral stenosis? Opening snap Loud S1 Tapping apex beat, which is not displaced 10

What are the causes of AR? Valvular Rh, IE and congenital biscupid valve (associated with CoA) Aortic root dilatation Syphilis, RA, AS, Marfan, severe hypertension Acute causes IE, trauma, Aortic dissection, rupture of sinus of valsalva How would you investigate? ECG – LVH with diastolic overload pattern – deep but narrow Q, isoelectric ST, and tall T waves in left praecordial leads CXR – valvular calcification, cardiomegaly, pulmonary congestion, widened aorta 2D echo Confirm Dx Assess cause Severity Complications How would you manage this patient? Education Medical Antibiotic prophylaxis Treat underlying cause Treat complications such as CCF, IE Vasodilators – ACE and CCB Surgical Indications Symptomatic – CCF, angina and severe AR LV ESD >55mm Aortic root >55mm Reduction of EF >5% on exercise Types of surgery What is the prognosis? 4% develop symptoms, CCF or both annually

11

5. Aortic Stenosis Presentation Sir, this patient has Aortic stenosis that is severe in nature. My findings include: Presence of an ejection systolic murmur heard best at the aortic area and radiates to the carotids. It is a grade 4/6 systolic murmur a/w with a systolic thrill. It is severe as there is an early ejection click a/w a long systolic murmur with delayed peaking of the murmur. I could not detect an S4 and the second heart sound is soft. There was also no paradoxical splitting of the second heart sound. th The apex beat is heaving in nature and is displaced, located at the 6 IC space at the just lateral to the mid-clavicular line. This is associated with signs of congestive cardiac failure as evidenced by presence of bibasal crepitations, raised JVP at 3 cm with prominent V wave and bilateral pedal edema but she does not require supplemental oxygen. Peripheral examination does not reveal any stigmata of IE. The pulse is regular at 84bpm and is anacrotic/pulsus parvus et tardus in nature. There are no features suggestive of haemolytic anaemia with no conjunctival pallor and patient is not jaundice. I would like to complete my examination by taking the patient‟s blood pressure to look for a narrow pulse pressure as well as his temperature chart. I would also like to enquire on patient‟s symptoms of angina, syncope and dyspnea as these are important prognostic markers. In summary, this patient has got aortic stenosis that is severe in nature with complication of congestive cardiac failure. There is no evidence of infective endocarditis or haemolytic anaemia. The most likely causes include Rh heart disease, calcified biscupid aortic valve or degenerative calcified aortic valves. Questions What are the differential diagnoses for an ejection systolic murmur? AS PS HOCM MVP/MR Coarctation How do you differentiate between them? AS and PS – expiration and inspiration AS and HOCM – Valsalva, squatting AS and MVP – location and clicks AS and Coarctation – differential pulse What are the types of pulses associated with aortic stenosis? Pulsus parvus et tardus – means low volume pulse with delayed upstroke due to a reduction in systolic pressure and a gradual decline in diastolic pressure Anacrotic pulse – small volume pulse with a notch on the upstroke What does a normal pulse volume in AS mean? The travsvalvular gradient is 40mmHg What does the second heart sound indicate about the aortic stenosis? Soft second heart sound means poorly mobile and stenotic valve Reversed splitting means mechanical or electrical prolongation of ventricular systole; S2 is normally created by the closure of the aortic valve followed by the pulmonary valve, if the closure of the aortic valve is delayed enough, it may close after the pulmonary, creating an abnormal paradoxical splitting of S2. Single second heart sound implies fibrosis and fusion of the leaflets Normal second heart sound implies insignificant stenosis What is Gallavardin phenomenon? Systolic murmur may radiate towards the apex, which may be confused with a MR murmur How can haemolytic anaemia result from aortic stenosis? MAHA from severely calcified aortic valve What are the causes of aortic stenosis? Rheumatic heart disease (75), Calcified biscupid (60-75, males) What are the severity markers? Early ejection click Long Systolic murmur Late peaking of the murmur 4th heart sound Paradoxical splitting of S2 Heaving apex beat which is displaced Systolic thrill

Pulsus parvus et tardus Narrow pulse pressure Symptoms (ASD) Angina Syncope Dyspnea (Most impt)

Px 5 years 3 years 2

years

12

How do you differentiate AS from aortic sclerosis? No severity signs as above ESM which is localised to aortic area with a normal S2 in elderly person How do patients present? Asymptomatic and incidental finding Angina o Increase oxygen requirement for hypertrophied LV with hypoperfusion of the subendocardial myocardium Syncope o Cardiac arrythmias o Peripheral vasodilatation eg post exercise without concomitant increase in CO o Transient elctromechanical dissociation Dyspnea o Implies LV dysfunction and heart failure How would you investigate? ECG – LVH with strain, 1st degree heart block, LBBB CXR – Calcified aortic valve, cardiomegaly, pulmonary congestion 2D echo o Dx o Severity LVH, EF

o

Severity Mild Moderate Severe Critical Complications eg IE

Area >1.5 1-1.5 double disc) Bioprosthetic does not require lifelong anticoagulation Therefore in the young and those who already require long term anticoagulation, mechanical valves preferred And in the elderly(lifespan 1.5 Recurrent IE Cx by AR Acquired cause eg rupture of septum form MI o Contraindication Development of Eisenmenger o Types Surgery Percutaneous transcatheter

19

10. ASD Presentation Sir, this patient has atrial septal defect as evidenced by presence of a wide and fixed splitting of the second heart sound. There is presence of an ejection systolic murmur over the pulmonary area which is louder on inspiration, implying presence of a pulmonary systolic murmur. This is a grade 3/6 murmur and there is no associated systolic thrill. There is no associated mid-diastolic flow murmur to suggest relative tricuspid stenosis or Lutembacher‟s syndrome (Acquired MS and ASD). There was also no associated PSM to suggest an ostium primum defect (TR, MR, VSD). th

The apex beat is not displaced and is located in the 5 IC space just medial to the mid-clavicular line. There is no complication of Eisenmenger‟s syndrome; there is no evidence of pulmonary hypertension; is not clubbed and no central cyanosis. There is also no evidence of congestive cardiac failure. There are no stigmata of infective endocarditis. Patient is in atrial fibrillation with an irregularly irregular pulse and is rate controlled at a rate of 84 bpm; there are also no bruises to suggest over-anticoagulation. There is no evidence of any thumb defects to suggest Holt-Oram syndrome. The patient also does not features of Down‟s syndrome. I would like to complete my examination by examining patient‟s chest for pneumonia as patients are prone to recurrent chest infections as well as a neurological examination to look for evidence of stroke due to paradoxical embolus. In summary, this patient has got an ASD with complications of AF. There are no complications of pulmonary hypertension, heart failure or Eisenmenger‟s syndrome. There is also no infective endocarditis. This patient has ASD is most likely due to an ostium secundum atrial septal defect which is a congenital heart condition. Questions What are the types of ASDs? o Ostium secundum type o 90% o common congenital heart condition o Most remain asymptomatic o If small 1.5 o Closed surgically or transcatheter button or clam-shell devices o Closure prevents pulmonary hypertension and RHF but does not alter incidence of AF How would you counsel a patient with ASD who intends to get pregnant? o Pregnancy is well tolerated in patients with small and hemodynamically insignificant ASD o For large defects with pulmonary hypertension, Eisenmenger‟s syndrome, avoid pregnancy as there is increase morbidity and mortality both to fetus and mother o Routine closure before pregnancy as complications of progressive pulmonary vascular disease may develop 21

11. HOCM Presentation Sir, this patient has got Hypertrophic obstructive cardiomyopathy. There is presence of a ESM heard best at the LLSE. It is a grade 3/6 murmur as it is not associated with any systolic thrill. In addition, there is presence of a MR mumur with a PSM heard bst at the ap3ex beat and radiates to the axilaa. It is a grade 4/6/ murm,ru as it is associated with a systolic thrill. The first heart sound is soft and there is no associated third or fourth heart sounds. th

The apex beat is not displaced located at the 5 IC space just medial to the midclavicular line. It has a double apical impulse (say this only if not if AF). There are no complications of congestive cardiac failure. However the JVP is raised at 3 cm with a prominent „a‟ wave. Examination of the peripheries did not show any stigmata of infective endocarditis. He is is SR at a pulse rate of 84 bpm and has a characteristic bifid pulse (only if not in AF; if in AF, say shrap, rising and jerky pulse) I did not notice any clinical features to suggest Friederich‟s ataxia. I would like to complete my examination by taking performing the valsalva manoeuvre or standing to accentuate the murmurs as well as take the patient‟s blood pressure and look for fever from the temperature chart. A neurological examination would be useful to screen for any signs of stroke. In summary, this patient has got a HOCM with an ESM and MR murmur associated with a double apical impulse, bifid pulse and a raised JVP with prominent „a‟wave. There are no complications of heart failure, AF or IE. This is a genetic condition. Questions What is HOCM? o Hypertrophic Cardiomyopathy o Genetic cardiac disorder caused by missense mutation in the genes that encode proteins of the cardiac sarcomere; autosomal dominant o Resulting in hypertrophy of the ventricular septum with LV outflow tract obstruction o 1 in 500, male:female 1:1 o Variable penetrance o Variable expression o Asymptomatic (majority) o Symptomatic o Angina, syncope, dyspnea, palpitations o Sudden death (Ventricular fibrillation) (overall annual mortality in 1%) o Complications of CCF, AF, IE and thromboembolic stroke Why is there a „double apical impulse‟? o Presence of a LV heave with a prominent presystolic pulse caused by atrial contraction o A differential diagnosis is LV aneurysm Why is there a prominent „a‟ wave? o Due to forceful atrial contraction against a non-compliant right ventricle What is Brockenbrough-Braunwauld-Morrow sign? o Reduced pulse pressure in the post-extrasystolic beat o Occurs in HOCM and AS What are the causes of HOCM? o Familial o Friederich‟s Ataxia o Idiopathic

22

How would you investigate? o ECG o Normal in 25% o Tall QRS in precordial leads with ST-T changes, Q in inf and lateral leads o LAD o AF o CXR o Normal o LA enlargement, LVH o Echocardiogram o Diagnostic Asymmetrical septal hypertrophy Systolic anterior motion of the anterior mitral valve leaflet Diastolic dysfunction o Severity Septal thickness >18mm Outflow tract gradient > 40mmHg as rest o Complications MR IE o TMX for those with angina o Holter monitoring looking for arrythmias especially presence of VT How would you predict poor outcome? o Family history of sudden death o History of syncope, cardiac arrest o Poor BP response to exercise o Holter monitoring with ventricual arrythmias detected, esp spontaneous VT o Echo findings How would you treat? o Education and counselling with screening of first degree relatives o 50% chance of being affected o Screen with ECG and 2D echo Annually for adolescent (12-18) And 5 yearly o Treatment is directed at symptom relief and prevention of sudden cardiac death o Relief symptoms Beta blockers If cannot tolerate, verapamil but caution I patients with sever symptomatic obstruction because of increase death especially after first few doses Beta blockers and disopyramide o Rx complications Rx CCF Rx AF Rx and prevention of IE Prevention of sudden death Amiodarone Pacing (dual-chamber pacing) o Septal ablation with alcohol or surgery o Surgical septal myomectomy (Gold standard)

23

12. Approach to Central cyanosis and Clubbing Examination o On detecting this, concentrate on o Differential cyanosis and clubbing (ULs vs LLs or right LL vs others where the LLs are cyanosed and clubbed) o Look for weak L radial pulse (BT shunt) o Shunt scar (BT shunt) o On auscultation determine if o Eisenmenger ASD, VSD, PDA No PS Has pulmonary hypertension (loud and palpable P2) and RVH Check single (VSD) or fixed splitting (ASD) o Fallot‟s tetralogy PS murmur (No VSD murmur as this is non restrictive) No pulmonary hypertension but has RVH Presentation o Sir this patient has got VSD/ASD/PDA complicated by Eisenmenger‟s complex. o Eisenmenger‟s because - clubbed and central cyanosis and Pulmonary Hypertension o The underlying cause is ASD/VSD/PDA because - second heart sound is crucial o ASD – fixed spitting second heart sound o VSD – Single second heart sound o PDA – reversed splitting second heart sound (split on expiration) o No PS murmur to suggest ToF o Apex beat o CCF o IE stigmata o Pulse o Peripheral presentation for ASD/VSD/PDA o (For Eisenmenger‟s syndrome, will have pulmonary hypertension and therefore look for TR and PR murmur) o Also state complications of polycythaemia, venesection marks o Requests o Summary o o o

o o o o o o o o o o

Sir this patient has ToF with a BT shunt done previously Clubbed and centrally cyanosis Presence of PS murmur and shunt murmur o PS murmur – ESM heard best at the pulmonary area 4/6 and systolic thrill o Shunt murmur (continuous murmur) o (No VSD murmur as it is large and non-restrictive) RVH with left parasternal heave Apex beat No pulmonary hypertension (no loud P2) Cor pulmonale – raised JVP, pedal oedema, no lung crepitation No IE Pulse Presence of a thoracotomy scar with a weak left radial pulse suggesting BT shunt Venesection marks, polycythemia Requests In summary

Questions How do you differentiate ToF vs Eisenmenger‟s syndrome? o ToF has PS murmur with systolic thrill and a soft P2 o ToF no pulmonary hypertension (CXR ToF has small pulmonary aretrial trunks) What are the characteristic findings of a PDA? o Collapsing pulse o Continuos murmur heard best just below the left clavicle and radiates to the back What are the differential diagnoses for a continuous murmur? o Collapsing pulse o PDA o MR with AR o VSD with AR o No collapsing pulse o BT shunt o Venous hum (right of the sternum, children, disappears when lie flat or right JVP occluded) What is ToF? o Congenital heart condition comprising of o VSD, RVH, Overriding aorta, PS

24

13. Dextrocardia Examination After the routine examination Request to examine the abdomen for a liver on the left side of the abdomen for situs inversus Presentation Sir this patient has dextrocardia as evidenced by: o Right apex beat o Heart sounds that are better heard on the right than on the left The heart sounds are normal and there are no murmurs detected. th Apex is not displaced located at the right 5 IC just medial to the midclavicular line and has a normal characteristic. She is in SR with a rate of 84bpm On examination of his lungs posteriorly, there was no evidence of coarse late inspiratory crepitations to suggest bronchiectasis and patient does not have a nasal voice to suggest sinusitis. (Katargener‟s syndrome) There is no evidence of Turner‟s syndrome. (mention this only if female!) I would like to complete my examination examining the abdomen for a left sided liver for situs inversus. In summary this patient has got dextrocardia and is well clinically and is of congenital etiology. Questions What is the significance of situs inversus in patients with dextrocardia? o It usually implies that there is no significant cardiac malformation What conditions is dextrocardia associated with? o Kartagener‟s syndrome – a type of immotile ciliary syndrome o Triad of Bronchiectasis Sinusitis, otitis media and dysplasia of the frontal sinuses Infertility o Turner‟s syndrome o Asplenia – PBF may show Heinz bodies and Howell-Juoly bodies What is situs inversus? o Right sided apex and right descending aorta o Left lung having 3 lobes and right lung with 2 lobes o Left sided liver and right sided stomach o Right descending colon What is dextroversion? o Right sided apex and left sided descending aorta o Left sided stomach What is levoversion? o Left sided apex and right sided descending aorta o Right sided stomach

25

RESPI! 14. Bronchiectasis Presentation Sir, this patient has got bronchiectasis affecting both lower lobes as evidenced by late, coarse inspiratory crepitations heard best posteriorly in the lower one third bilaterally. Patient has a productive cough with large volume of purulent sputum with hemoptysis associated with clubbing. Chest excursion was reduced bilaterally with a normal percussion note and vocal resonance. Trachea is central and the apex beat is not displaced. There are no signs to suggest presence of COPD. (There is concomitant COPD with a reduced chest excursion bilaterally, hyperinflation of the chest associated with hyperresonance on percussion with loss of liver and cardiac dullness. There is presence of ronchi and a prolonged expiratory phase. Vocal resonance is normal. Trachea is central and apex beat is not displaced.) There is complication of pulmonary hypertension with a loud and palpable component of the second heart sound associated with a left parasternal heave. There is also cor pulmonale with a raised JVP of 3 cm with prominent a wave associated with bilateral pedal oedema. Clinically there are no signs of polycythemia such as plethoric facies or conjunctival suffusion. He is not in respiratory distress (with a RR of 14 bpm without use of accessory muscles of respiration). There are no signs of respiratory failure (he does not require any supplemental oxygen and there is no central cyanosis; there is also no flapping trem or of the hands and no bounding pulse). There is also no nicotine staining of the fingers, patient is not cachexic looking and no enlarged Cx LNs. With regards to aetiology, there is no dextrocardia or a nasal voice to suggest possible Kartagener‟s syndrome. In addition, there is no symmetrical deforming polyarthropathy to suggest RA or any cutaneous signs of SLE. There is no kyphoscoliosis. With regards to treatment, patient has a steroid metered-dose inhaler, salbutamol and ipratropium metered-dose inhalers by the bed side. I would like to complete the examination by looking at the temperature chart for fever as well as an abdominal examination to look for splenomegaly from amyloidosis which can result from bronchiectasis. A neurological examination is useful to screen for deficit as patients are prone to brain abscesses. In summary, this patient has bronchiectasis affecting both lower lobes with complications of pulmonary hypertension and cor pulmonale. There is no concomitant COPD and no polycythemia. He is clinically not in respiratory failure. The possible causes for this patient‟s bronchiectasis are post infective causes such as post viral, bacterial, TB or ABPA, connective tissue disease such as RA or SLE, congenital conditions such as cystic fibrosis, Kartagener‟s syndrome or hypogammaglobulinemia.

26

Questions What are your differential diagnoses for a patient that is clubbed and has crepitations? o Bronchiectasis o Pulmonary fibrosis o Mitotic lung lesion o Abscess What is bronchiectasis? o Definition: permanent dilatation of the bronchi o Pathology: Retained secretions and chronic inflammation o Clinical course: Chronic, progressive with recurrent infective exacerbations o Clinical: Symptoms - productive purulent cough, dyspnea and hemoptysis and Signs: coarse late inspiratory crepitations with a 3 layered purulent sputum What are the causes of bronchiectasis? o Focal o Luminal blockage – FB, broncholith o Arising from the wall – mitotic lesion of the lung o Extrinsic – enlarged LNs esp middle lobe from TB/fungi; displacement of airways post lobar resection o Diffuse o Post infectious conditions Bacteria – Pseudomonas, Hemophilus, Pertussis TB Aspergillus (for upper lobe or proximal bronchiectasis) as in allergic bronchopulmonary aspergillosis from type III immune complex reactions. Virus – adenovirus, measles, influenza o Congenital conditions Cystic fibrosis Alpha 1 Antitrypsin deficiency Kartagener‟s syndrome of immotile ciliary syndrome Hypogammaglobulinemia o NB: Immunodeficiency form secondary causes such as cancer, chemotherapy or immune modulation post transplant o Rheumatic conditions RA (1-3% of patients) SLE Sjogren‟s o Others Yellow nail syndrome (yellow nails, bronchiectasis, pl effusion and lymphedema) Young‟s syndrome(secondary ciliary dyskinesia from mercury intoxication) Inflammatory bowel disease (UC or Crohn) Congenital kyphoscoliosis Idiopathic (50%) What is bronchiectasis sicca? o “dry” bronchiectasis o Presents with recurrent hemoptysis and dry cough o Affects the upper lobes therefore good drainage o Usually from past history of granulomatous infection eg TB What is Kartagener‟s syndrome? o It is a type of immotile ciliary syndrome o Comprising of o dextrocardia, situs inversus o bronchiectasis, sinusitis, frontal sinus dysplasia, otitis media o infertility o Resulting in poor ciliary function with retained secretions and recurrent infections and thus bronchiectasis What is cystic fibrosis? o Most commonly due to mutations to CFTR (CF transmembrane conductance regulator) with F508 o Recurrent respiratory infections with pancreatic exocrine deficiency and short stature o Upper lobe involvement o Staph aureus, Ps aeuroginosa o Elevated sweat Na and Cl concentrations What are the differences in bronchiectasis vs COPD? o They may both occur concomitantly COPD Cause Cigarette Infection Secondary Organism S. pneumoniae, Haem Symptoms Dyspnea, chronic cough Sputum Mucoid clear CXR Hyperlucency, hyperinflated

Bronchiectasis Infection, genetic Primary Haem, Pseudomonas Dyspnea, hemoptysis, productive 3 layered, purulent Airway thickening, dilated

27

What are the complications of bronchiectasis? o Pneumonia, collapse, pleural effusion, lung abscess, pneumothorax, hemoptysis o Brain abscess o Sinusitis o Amyloidosis How would you investigate? The diagnostic investigation of choice is a HRCT but simple Ix such as CXR and LFT are also useful: o CXR – Diagnosis, extent and complications o 90% abnormal o Diagnosis specific dilated and thickened airways Ring shadows (seen on end) Tram lines Non-specific Linear or plate-like atelectasis Scattered irregular opacities Focal pneumonitis o Extent and distribution o Complications Pneumonia, abscesses, pleural effusion o Lung function test o Obstructive pattern with FEV1/FVC 15% improvement o High-resolution computer tomography scan of the thorax o Non-contrast study with 1 mm cuts every 1 cm with acquisition time of one second during full inspiration (requires patient cooperation); 90% sensitivity o Diagnostic Dilatation of airway lumen >1.5X cf to a nearby vessel Signet ring sign (dilated bronchus with its pulmonary artery) Lack of tapering of an airway toward the periphery with presence of bronchi within 1 cm from the pleura Reid‟s classifications Cylindrical or tubular Varicose Saccular or cystic Useful also in elucidation cause of focal bronchiectasis o Assess distribution Usually lower lobes If upper lobes – suspect Cystic fibrosis or ABPA If proximal bronchiectis, ABPA If ML or lingula – M. avium complex o Complications

28

How would you manage? o Non-Pharmacological o Education and counselling o Stop smoking, vaccinations (yearly influenza and 3-yearly pneumococcal) o Chest percussion and postural drainage (no evidence actually) o Rx underlying cause o Pharmacological o Rx acute exacerbations o O‟Donnell‟s 4/9 symptoms of exacerbations Increased dyspnea Increase cough Increase sputum production Increased wheezing Fever Lethargy, malaise Changes in chest sounds Reduced pulmonary function Radiographic changes consistent with a new pulmonary process o Antibiotics targeting Haem, Ps and Strep and Moraxella Fluoroquinolones Others MAC – Rifampiciin, ethambutol and Azithro till c/s negative for 1 year ABPA – augmentation of corticosteroids and use of itraconazole 200mg bd for 4 weeks then 200mg om for 4 more weeks o Bronchodilator therapy such as beta agonists and anticholinergics with inhaled corticosteroids o Improve lung function (FEV1) and reduce sputum volume o No effect on mortality o Aerosolised recombinant human DNAse for cystic fibrosis (not for other causes of bronchiectasis) o Surgery o Focal o Removal of obstructing tumour or FB o Diffuse o Segments that are most damaged and contributing to recurrent acute exacerbations o Segments involved with uncontrolled haemorrhage o Removal of segments suspected of harbouring drug resistant organism such as MDR MTB or MAC o Lung transplant How do you manage complication of hemoptysis? o Quantify o If >600mls /day = massive o Lie on the affected side o Protect airway o Bronchoscope or CT to determine site of bleed o Interventional radiology or surgical removal

29

15. Interstitial Lung Disease Presentation Sir, this patient has interstitial lung disease affecting both lower lobes (upper lobes) as evidenced by fine velcro-like late inspiratory crepitations heard best posteriorly(anteriorly) in the lower one third bilaterally. This is associated with clubbing(50%) and a nonproductive cough. Chest excursion was reduced bilaterally with a normal percussion note and vocal resonance. Trachea is central and apex beat is not displaced. There are no signs of pulmonary hypertension or cor pulmonale. There are also no features of polycythemia. Patient respiratory rate is 14 breaths per minute and there are no signs of respiratory distress. There are also no signs of respiratory failure. There is also no nicotine staining of the fingers and I note that the patient is cachexic looking with wasting of the temporalis muscles. In terms of aetiology, there is no symmetrical deforming polyarthropathy of the hands to suggest RA, or cutaneous signs to suggest presence of SLE, dermatomyositis or scleroderma as these conditions may be complicated by pulmonary fibrosis. With regards to treatment, patient is not Cushingoid and does not have papery thin skin or steroid purpura to suggest chronic steroid usage. On inspection there are no surgical scars to suggest open lung biopsy. I would like to complete the examination by asking for a detailed drug history as well as an occupational history. In summary, this patient has got pulmonary fibrosis affecting bilateral lower lobes. There are no complications of pulmonary hypertension, cor pulmonale and polycythemia. He is clinically not in respiratory failure and has no features of chronic steroid usage. The differential diagnoses include collagen vascular disease, drugs, occupational causes and idiopathic pulmonary fibrosis. Questions What are the differential diagnoses for clubbing and crepitations? Pulmonary fibrosis Bronchiectasis Lung abscess Mitotic lung conditions What are the characteristic auscultatory findings? Late, fine inspiratory crepitations Velcro-like Disappears or quietens with the patient leaning forwards What are the causes of fibrosis? Upper Lobes S – Silicosis, sarcoidosis C- coal worker pnemoconiosis H- histiocytosis A- Ankylosing spondylitis, ABPA R – radiation T – TB Lower lobes R- RA A-Asbestosis S- Scleroderma I – Idiopathic pulmonary fibrosis O- others ie drugs Cytotoxics – MTX, Aza, bleomycin, bulsulphan, cyclo, chlorambucil CNS - Amitryptyline, phenytoin and carbamazepine CVS - Amiodarone, hydralazine, procainamide Antibiotics - Nitrofurantoin, isoniazid Antirheumatics – Gold, sulphasalazine Both N – Neurofibromatosis, Tuberous sclerosis E – Extrinsic allergic alveolitis (acute symptoms within 6 hrs of inhaled allergens eg farmer‟s lungs) P – pulmonary haemorrhage syndromes A – alveolar proteinosis Primary Secondary – Inhaled organic dusts(Silica, Al), chronic infection, malignancy Lymphangiomyomatosis

30

How would you classify interstitial lung disease? (ATS/ERS 2001) Diffuse parenchymal lung disease(DPLD) of known cause Collagen Vascular disease RA, SLE, Dermatomyositis, Systemic sclerosis Occupational/Environmental Asbestosis, silicosis, extrinsic allergic alveolitis Drug related Cytotoxic, CNS, CVS, Antibiotics and antirheumatic Idiopathic IPF Other idiopathic interstitial pneumonias DIP AIP LIP NSIP Cryptogenic organising pneumonia Respiratory bronchiolitis Granulomatous Sarcoidosis Others - LAMs, histiocytosis How would you diagnose idiopathic pulmonary fibrosis? Clinical-radiological-pathological diagnosis Clinical o Exclusion of other causes of ILD o >50 yrs, insidious onset of dyspnea, > 3months, non-productive cough o Typical physical findings Radiological (see below) Pathological (see below) How would you investigate? The diagnostic Ix of choice is a HRCT of the thorax but simple IX such as CXR and LFT are useful: CXR Diagnostic bilateral basal reticulonodular shadows, peripheries, which advances upwards honeycombing in advanced cases (gps of closely set ring shadows) loss of lung volume Extent and distribution Complications Lung function Restrictive pattern (reduced TLC or VC with increased FEV1/FVC ratio) Severity of restriction based on TLC Reduced transfer factor (impaired gas exchange) HRCT scan Dx – patchy reticular abnormalities, focal ground glass, architectural distortion, volume loss, subpleural cyst, honeycombing (no consolidation or nodules) Extent and severity – basal, peripheral, subpleural Complications NB: Similar to that of collagen vascular disease and asbestosis Others Bronchoscopy – lavage Predominantly lymphocyte responds to steroids and better Px= not UIP Predominantly neutrophils and eosinophils means poor Px= UIP (if >20% of eosinophils to consider eosinophilic lung disease) Lung biopsy IPF – Usual interstitial pneumonia Bloods ABGs To rule out causes How would you manage? Education and counselling Stop smoking Regular follow up and vaccinations Treat underlying cause Pharmacological Trial of steroids If responding continue steroids If not responding, cyclophosphamide or azathioprine Antifibrotic agents Eg penicillamine which has not been proven to be useful Surgical: Lung transplant (single lung transplantation) Manage complications Cor pulmonale - diuresis for heart failure Polycythemia - venesection if Hct >55% Respiratory failure – Oxygen therapy Monitor for lung cancer

31

What are the good prognosticating factors? Young age Female Short duration Ground glass appearance on the CXR Minimal fibrosis on lung biopsy What is the clinical course of patients with IPF? Gradual onset Progressive Median survival from time of dx about 3 years What are the causes of death? Cor pulmonale Respiratory failure Pneumonia Lung carcinoma What is Hamman-Rich syndrome? Rapidly progressive and fatal variant of interstitial lung disease

32

16. COPD Presentation Sir, this patient has severe COPD that is complicated by pulmonary hypertension, cor pulmonale and polycythemia. He is tachypneic at rest and requires use of intranasal oxygen supplementation. Patient has got hyperinflated chest with reduced chest expansion bilaterally at 2cm. The percussion note is resonant with loss of liver and cardiac dullness. There is prolonged expiratory phase with expiratory ronchi. Vocal resonance is normal. Trachea is central and apex beat is not displaced. There is complication of pulmonary hypertension as evidenced by loud and palpable P2 associated with a left parasternal heave. There is also cor pulmonale with raised JVP of 4cm with giant V waves associated with bilateral pedal oedema. There are also features of polycythemia with plethoric facies and conjunctival suffusion. The patient is in respiratory distress. He is tachypneic at rest with a RR of 20 bpm and uses his accessory muscles of respiration at rest. He is also in respiratory failure with presence of central cyanosis and is oxygen dependent. However, he does not have a flapping tremor or a bounding pulse to suggest CO2 retention clinically. In terms of aetiology, the presence of nicotine staining of his fingers implies significant history of smoking. He is not clubbed. The Cx LNs are not enlarged and he is not cachexic looking. There is presence of steroid MDI as well as bronchodilators by his side. There is no evidence of a hoarse voice or oral thrush or other features of chronic systemic steroid usage. I would like to complete the examination by testing patient‟s forced expiratory time, checking his temperature and examining his sputum. In summary, this patient has got severe COPD with complications of pulmonary hypertension, cor pulmonale and polycythemia. He is in respiratory failure and respiratory distress. The most likely aetiology is smoking. Questions How do you dx COPD? Clinical (>35 years, smoking, wheeze, SOB, cough with sputum, winter bronchitis) Airflow obstruction – FEV1/FVC500 mls decline over 5 years implies accelerated decline) o Pneumococcal and influenza vaccination o Pulmonary rehabilitation for MRC 3 or above(PT/OT) o MSW, Nurse o Assessment of inhaler technique (should not clean space more than once a month due to increased static) Pharmacological o Bronchodilators Beta agonist and anticholinergics Short acting and long acting Improves symptoms and exercise capacity o Theophylline o Steroids Reduce exacerbations and decline in health status Used if FEV165) o Mucolytics (not anti-tussive) o Management of exacerbation Bronchodilator - Nebs or via spacer Systemic steroids IV aminophylline Antibiotics such as macrolide (increase volume or purulence) Oxygen therapy Intranasal if hypoxic NIPPV if hypercapneic and pH 7.25-2.35 Intubation Manage complications o Hypoxemia – assessment for need of LTOT PaO2 20% PO2 0.6 Pl fluid LDH > 2/3 upper limit of serum LDH o If suspect transudate still, can do the serum to pleural albumin gradient (difference). If > 1.2 g/dL, transudate. (less sensitive for exudates) How would you investigate? o CXR o Sputum for gram stain, c/s and AFB smear, cytology o Diagnostic pleural tap and pleural biopsy o Indications for a diagnostic thoracocentesis >10mm thick on a lateral decubitus film or USS o Appearance Bloody appearance 50% cf to peripheral Hct = hemothorax Turbid (parapnemonic, chylothorax) Putrid odour (anaerobic) o Haemotological Ix Total cell > 1500 cell/ml >50% neutrophils (parapneumonic) Lymphocyte predominant (cancer, TB, lymphoma, CTDs) Mononuclear cells – chronic Eosinophils Blood or air in the pleural space Drugs – nitrofurantoin, bromocriptine, dantrolene Churg-Strauss Paragonimiasis Asbestosis o Biochemical Light‟s criteria and serum pleural albumin gradient pH Glucose (50%

38

How would you treat the patient? Depending on the underlying cause For mitotic lesion o Multidisciplinary approach o Education and counselling, support groups and stop smoking o Symptomatic treatment o For non-small cell Assessment for surgical resectability Staging (up to stage IIIA); ie once T4, N3 or M1 not a candidate Physiological staging Chemotherapy Neoadjuvant Adjuvant Radiotherapy Adjuvant Palliative Palliative Radiotherapy o Pain, bone mets o Dyspnea from bronchial obstruction, dysphagia o SVCO, pancoast syndrome Chemotherapy o For small cell: Chemotherapy How does patient with bronchogenic carcinoma present? Primary tumor o Cough, dyspnea, hemoptysis, pneumonia Mediastinal spread o SVCO, Horner‟s, pleural effusion, phrenic nerve palsy, hoarseness of voice, T1 wasting, pericardial effusion Metastasis o Liver, bone, brain, skin, adrenal glands Paraneoplastic symptoms Systemic effects o LOA, LOW, fatigue What are the paraneoplastic syndromes? Endocrine o PTH-related peptide (hypercalcemia) – SCC o SIADH – Small cell (usually asymptomatic) o ACTH – Cushing‟s (usually hypokalemic metabolic alkalosis) o Gynaecomastia Neurological o Subacute cerebellar degeneration o Peripheral neuropathies o Lambert-Eaton syndrome Cardiovascular o Non-thrombotic endocarditis Renal o Nephrotic syndrome, GN (membranous) Skin o Migratory venous thrombopleblitis (Trosseau‟s sign) o Acanthosis nigricans o Dermatomyositis o Zoster MSK o Clubbing, HPOA Haematological o DIC o Anaemia What is SVCO? Tumour with obstruction of the SVC Plethoric facies Facial and UL oedema Conjunctival suffusion Undersurface of the tongue with multiple venous angiomata Fixed engorgement of the neck veins Stridor Upper chest telangiectasia Radiation marks (NB think of polycythemia which also have plethoric facies) Causes o Lung carcinoma, especially small cell o Lymphoma o Others – mediastinal goiter

39

19. Consolidation Presentation Sir, this patient has a right upper lobe consolidation as evidenced by reduced chest excursion of the right hemithorax associated with a dull percussion note, bronchial breath sounds and crepitations and increased vocal resonance. These signs were best heard in the upper one third anteriorly in the right hemithorax. The trachea is central and apex beat is not displaced. There are no signs to suggest that the patient is in respiratory distress or in failure. With regards to aetiology, an underlying malignancy is considered as there is associated complication of SVCO (hoarseness of voice if left sided), with plethoric facies, ruddy complexion a/w oedema of the face and upper limbs associated with suffusion of the eyes, fixed engorgement of the neck veins, dilatation of the superficial veins of the neck, and venous angiomata detected on the undersurface of his tongue. There is no Horner‟s syndrome, wasting of the intrinsic muscle of the hands and no soft heart sounds to suggest pericardial effusion. There was also no associated pleural effusion or a raised right hemidiaphragm. He is also clubbed with HPOA and has nicotine staining of his fingers. He is cachexic looking with enlarged palpable cervical LNs. There is also thrombophiblitis of the forearms which may suggest Trosseau‟s sign. (if there are no signs of cancer, proceed to mention TB/pneumonia ie mantoux testing, toxic looking, productive cough with purulent sputum; DVT ie swelling and tender calves) There is presence of radiation therapy marks on the right chest wall as well as side effects of chemotherapy such as alopecia and oral ulcers. In summary, patient has a right upper lobe consolidation complicated by SVCO. He is not in respiratory distress. The underlying cause is most likely a mitotic lesion of the lung. Questions What are the causes of a consolidation? Infection o Pneumonia o Abscess o TB o Aspergilloma, cryptococcoma, hydatid cyst Neoplastic or mass o Carcinoma o Lymphoma Pulmonary infarction How would you investigate? Simple o CXR o ABGs, blood tests FBC and biochemical profile, blood c/s o Sputum Directed tests o Infection o Cancer – Bronchoscopy and Bx, CT staging, bone scan, physio staging o Infarction What are the causes of an unresolved pneumonia? FB Tumor Abscess Inappropriate antibiotics, resistant organism Bronchopulmonary sequestration o Rare, congenital o Non-functioning lung tissue with anomalous arterial supply with no connection to the bronchopulmonary tree What are the extrapulmonary manifestations of Mycoplasma? CNS – meningitis, encephalitis CVS – percarditis, myocarditis Hepatitis, GN DIC, AIHA EM, SJS Arthralgia, arthritis

40

What are the complications of pneumonia? Local o Abscess o Empyema o Respiratory failure Sepsis o Septic shock o ARDS o MOF o DIC What are the pulmonary eosinophilic disorders? 9 Defined as radiographic infiltrates with hypereosinophilia (>1.5 x10 L) Includes o Churg-Strauss – Asthma with vasculitis and hypereosinophilia o Tropical pulmonary eosinophilia – high anti-filarial Ab o Chronic pulmonary eosinophilia – cough, progressive SOB, weight loss with “photographic negative” pulmonary oedema ie diffuse peripheral pulmonary infiltrates How do you manage pneumonia? BTS 2004 Depending on the type of pneumonia o CAP o HCAP o HAP o note that HCAP is Rx the same way as CAP in BTS guidelines Risk Stratify - CAP o CURB-65 score – 6 point score from 0 to 5 Confusion Urea >7 mmol/L RR >30 bpm BP 1 of T >37.8 HR>100 RR>24 SpO214u/wk in females 100% of normal liver develops fatty liver 35% develop alcoholic hepatitis 20% develop cirrhosis 40% of alcoholic hepatitis develop cirrhosis Maddrey‟s discrimination function PT x Bil x 4.6 >32 = severe Treat with corticosteroids or total enteral nutrition (20-30 kcal/kg/day) o Others (see notes below) Manage the complications o Hepatic encepholpathy Treat precipitants (see below) Prevent Low protein diet Lactulose o Hepatorenal syndrome Treatment with Noradrenaline infusion, telipressin or midodrine with octreotide plus Albumin infusion (1g/kg on D1 then 20-40g/day) For 5-15 days Prevention (in patient with cirrhosis and ascites) IV albumin NB that hemodialysis does not help in this condition o Ascites (see ascites) o Upper GI bleed Secure VS Urgent endoscopy Operative Prevention Propanolol to reduce HR by 25% or to 55-60 bpm Variceal banding o HCC Definitive treatment o Liver transplant o MARS (Molecular adsorbent Recirculating system)dialysis as an interim measure before liver transplant What are the factors precipitating decompensation? Infection – SBP, pneumonia, UTI GI bleed Constipation Diuretics and electrolyte imbalance Diarrhea and vomiting Sedatives Surgery

51

What are the nail changes of hypoalbuminaemia? Leukonychia, ie nail bed opacify indicating an albumin level 3mm (post hepatitis B, C, Wilson‟s and AAT) (Micronodular cirrhosis implies alcoholic liver cirrhosis) Amyloidosis/Hydatid cyst/granulomatous disease/gummatous disease/APCKD

54

Questions What are the causes? See above How would you investigate? According to the most likely etiologies Think of o Blood Ix – Dx and PX o Imaging o Liver Bx How would you manage? According to the most likely etiologies (Don‟t forget that 40% of CLD has no peripheral stigmata of CLD – therefore think of Alcoholic liver cirrhosis, PBC and Hemochromatosis in the right setting)

55

25. Splenomegaly Presentation Sir, this patient has a moderately enlarged spleen without evidence of liver cirrhosis. There is associated with tenderness/pallor/lymphadenopathy. The spleen is moderately enlarged at 4 cm from the left costal margin. There is a palpable notch with a regular edge and smooth surface, firm consistency and is non tender. I did not detect a splenic rub. This is not associated with hepatomegaly or ascites. The kidneys are also not ballotable. Peripheral examination showed that there is no evidence of any stigmata of CLD and patient is not jaundiced with no bruises or petechiae. Aetiology: 1. Patient is not cachexic looking with no conjunctival pallor or enlarged Cx LNs. There is also no evidence of polycythemia such as plethoric facies or conjunctival suffusion or bone marrow biopsy scar. 2. Patient is not toxic looking and no rashes or enlarged tonsils are noted. 3. There are no splinter haemorrhages or stigmata of IE. 4. There are no features of SLE or RA or chronic haemolytic anaemia. I would like to complete the examination by looking at the patient‟s temperature chart and take a history of night sweats, LOW and travel history My differential diagnoses for this young patient with moderately enlarged spleen with anaemia are Massive Splenomegaly (>8 cm) CML Myelofibrosis PRV Chronic malaria Kala-azar (visceral leshmaniasis) Others(Gaucher‟s, rapidly progressive lymphoma) Moderately Enlarged (4 to 8 cm/ 2-4 FB) Myeloproliferative Lymphoproliferative Haematological – AI, ITP, Thalassemia and HS Chronic malaria Cirrhosis Mildly Enlarged(4cm8 cm) CML Myelofibrosis PRV Chronic malaria Kala-azar (visceral leshmaniasis) Others(Gaucher‟s, rapidly progressive lymphoma) Moderately Enlarged (4 to 8 cm/ 2-4 FB) Myeloproliferative Lymphoproliferative Haemotological – AI, ITP, Thalassemia and HS Chronic malaria Cirrhosis Mildly Enlarged(4cm1.1g/dl = portal hypertension (97% accuracy) o Cirrhosis of the liver o Budd-Chiari o CCF o Constrictive pericarditis o Malabsorption o Meig‟s syndrome o Hypothyroidism Serum ascites albumin gradient< 1.1g/dl o Intra-abdominal malignancy o TB o Nephrotic syndrome o Protein losing enteropathy What is the pathophysiology of ascites in cirrhosis of the liver? The chief factor is splanchnic vasodilatation Cirrhosis leads to increased resistance to portal flow Leading to portal hypertension Portal hypertension results in local production of vasodilators, with splanchnic arterial vasodilatation (1) Arterial underfilling o Early stage – minimal effect on effective arterial volume as can be compensated by increase in plasma volume and cardiac output o Later stage splanchnic vasodilation so marked that effectve arterial pressure falls and results in activation of vasoconstrictors and atrial natriuretic factors Sodium and fluid retention and expansion of plasma volume contributing to ascites Impaired free water execretion leading to dilutional hyponatraemia Renal vasoconstriction with hepatorenal syndrome (2) Increase in splanchnic capillary pressure with lymph formation exceeding return therefore ascites How would you investigate to determine the cause of the ascites? (Liver, renal, heart, thyroid, TB) Ascitic tap o Cell count, albumin, and total protein concentration if cirrhosis and dx See attached o Others Infection – c/s and g/s AFB Malignancy - cytology o upper limit of serum Low glucose High protein >1 g/L CEA > 5ng/ml ALP >240u/L Treatment rd o 3 generation cephalosporin o IV albumin to prevent HRS Prevention o Indications After 1 episode of SBP as recurrence as high as 70%/year In patients with acute variceal bleed Ascitic fluid protein concentration) o Mee‟s line (single white line; also in arsenic poisoning) o Beau‟s line (non-pigmented indented band = catabolic state) What are the causes of anaemia in patients with CRF? Erythropoeitin deficiency Anaemia of chronic disease Fe deficiency anaemia – blood loss, nutrition Folate deficiency – nutrition

66

What is Adults Polycystic Kidney disease? Multisystemic, progressive disease, 1 in 400 to 1 in 1000 people Characterised by cysts formation and enlargement in the kidneys and other organs Autosomal dominant with almost 100% penetrance Focal cystic dilatation of the renal tubules 2 predominant type o 85% - APCKD 1 on Ch 16 o 15% - APCKD 2 on Ch 4 rd o 3 type of which loci is not fully known rd th Presents clinically in the 3 or 4 decades with o Hematuria, hypertension, recurrent UTI, pain and uremia o Stroke By age 60 years, 50% will require RRT Poorer Px – males, PCK 1 and early onset of clinical features Mortality o ESRF (1/3) o Stroke and other hypertensive Cx (1/3/) o Others How do you investigate? Blood Tests o FBC o Biochemical o CRF – Ca, PO4, iPTH, Uric acid, urinalysis USS (useful >20 years old); Ravine‟s criteria o At risk patients, 20-30yrs: 2 cysts in 1 kidney or 1 cyst in each kidney o At risk patients, 30-60 yrs: 2 cysts in each kidney o At risk patients, >60 yrs: 4 cysts in each kidney Other imaging(CT and MRI) MRA for patients with high risk of an aneurysm, Ba enema and Echocardiogram Genetic testing o For young people with no cysts on USS who are potential organ donors How would you manage? Education and counselling, regular follow up, screening of first degree relatives Avoidance of medications that can precipitate renal impairment such as NSAIDs or tetracycline antibiotics Medical treatment o Hypertension with ACE inhibitors or ATII RA o UTI, cysts infection – usually GN bacteria therefore use Bactrim or fluroquinolones with good renal tissue penetration o Pain treatment o Renal failure – medical treatment and RRT for those with ESRF o Antibiotic prophylaxis Surgical treatment o Pyocyst – drainage o Cystectomy o Nephrectomy o Alcohol sclerosant o RRT o Aneurysm clipping, MVP with MR

67

30. Transplanted Kidney Presentation Sir, this patient has a transplanted kidney in the right iliac fossa associated with bilateral enlarged kidneys with a functioning AVF with features of cyclosporine and chronic steroid use. There is presence of a rounded palpable mass in the right iliac fossa with an overlying scar. It is non-tender. In addition there are bilateral masses in the flanks which are bimanually palpable and ballotable with a nodular surface. I am able to get above these masses and they are not tender. They move inferiorly with respiration and percussion note is resonant over them. There is no associated ascites and no renal bruit. The liver and spleen are both not enlarged. The patient does have features of renal impairment with a sallow appearance and is thin looking. He does not have any bruises or pruritic scratch marks and no leukonychia or Terry‟s nails were detected. There is also no conjuctival pallor to suggest anaemia and there are also no features of polycythemia such as a plethoric facies or conjunctival effusion. He is also not in fluid overload with no pedal edema and is able to lie flat and is not oxygen dependent. There is no Kussmaul‟s breathing with no uremic fetor or flapping tremor of the hands. There is presence of an arterio-venous fistula in the right upper limb. It is functioning with a good thrill. There are no recent needle puncture marks and no aneurysm was noted. There is presence of diabetic dermopathy noted on the lower limbs. There is no evidence of transplant related hepatitis B or C with no jaundice or stigmata of chronic liver disease. Patient has hypertrichosis and gum hypertrophy which are complications of cyclosporine usage. Moreover, he has a Cushingnoid habitus with steroid purpura and thin skin, suggesting chronic steroid usage. I would like to complete my examination: Temperature chart for fever BP for hypertension Fundoscopy for hypertensive changes Urine analysis for hematuria, proteinura or pyuria CVM – MVP or AR Neurological – III nerve palsy or PHx of stroke In summary, this middle age gentleman has a transplanted kidney for underlying Adult Polycystic kidney disease with previous dialysis. The graft is functioning well as he is not uremic and is well with features of cyclosporin and steroid use. Questions What are the differential diagnoses for a right iliac fossa mass? Transplanted kidneys Carcinoma of the caecum (hard mass, LNs) Abscess – appendicular, ileocecal Crohn‟s disease (mouth ulcers, PR for fistulas) Ovarian tumors (in females) Others o Amoebiasis, TB lymphadenitis, actinomycosis o Carcinoid o Ectopic kidney What are your differential diagnoses for a left iliac fossa mass? Transplanted kidney Colonic carcinoma (hard mass, hepatomegaly LNs) Diverticular abscess Fecal mass Ovarian tumors Others – lymphadenitis What are the common kidney diseases leading to transplant? DM Hypertension GN How does renal transplant compare with dialysis? Higher patient survival rates Better quality of life with lower hospitalisation rates

68

What are the causes of transplant loss? Patient death Allograft failure o Immunological Acute rejection Single most important event determining graft survival Can result in rapid loss of graft or progression to chronic rejection or chronic allograft nephropathy Treated with pulse steroid or anti-lymphocyte antibody therapy Chronic rejection o Non-immunological Renovascular thrombosis Ischaemia reperfusion injury Nephrotoxicity from calcineurin inhibitors CMV, polyoma virus DM, hypertension, hyperlipdaemia o Others Recurrence of primary disease (GN and DM) Chronic allograft nephropathy What is delayed graft function? Defined as requirement of dialysis in the first week post transplant o Immunological – acute rejection o Non-immunological – ischaemia reperfusion injury, donor hypertension What are the strategies one can use to reduce graft loss? Immunological o Live donor better than cadaveric o HLA matched at A, B and DR loci o Absence of pre-sensitisation Previous transplant Pregnancies Transfusions Idiopathic o Immunosuppresive therapy to reduce acute rejection Traditionally use of steroid and cyclosporin Others Calcineurin inhibitors eg Cyclosporin and tacrolimus Mycophenolate mofetil Sirolimus Non-immunological o Pre-transplant Donor factors – old age, CVA, hypertension Recepient factors – older, male, obese, diabetic, hypertension o Technical factors increase cold ischemia time – LD transplant, renoprotective preservative solutions hyperfiltration from inadequate nephron dose – match size and better if male to female; use of ACE inhibitors o Post-transplant Calcineurin inhibitors induced nephrotoxicity Monitor levels Use others such as sirolimus or MMF CMV infections and polyoma virus Prophylaxis with ganciclovir for CMV No Rx for polyoma virus Treat BP (50 years old with male predominance Ptosis, diplopia Dysarthria, difficulty swallowing (isolated bulbar muscles involvement occurs in 20%) Generalised weakness or reduced exercise tolerance Respiratory failure in 1% Tends to occur extraocular muscles first, then to facial to bulbar and to limbs and truncal What can exacerbate MG or precipitate crisis? Non compliance to medications Infection Emotions Drugs Antibiotics: aminoglycosides, tetracyclines, macrolides and fluoroquinolones CVS : Beta blockers, Calcium channel blockers (verapamil) Others : Chloroquine, quinidine, procainamide, Li, Mg, Prednisolone, quinine(in gin tonic drinks), penicillamine What is cholinergic crisis? Can cause confusion between myasthenic crisis from cholinergic crisis Results from excess of cholinesterase inhibitors such as neostigmine and physostigmine Causes flaccid paralysis and SLUDGE (Miosis, salivation, lacrimation, urinary incontinence, diarrhea, gastrointestinal hypermotility and emesis) How would you investigate? Blood Ix AchR Ab Positive in 80% with generalised MG Positive in only 50% with ocular involvement only also present in 90% of patients with penicillamine induced MG Antistriated musce Ab Anti Muscle specific kinase Ab (Anti MuSK Ab – positive in patients with AchR Ab –ve) FBC to rule out infection Imaging CXR – thymus (anterior mediastinal mass), aspiration pneumonia CT for thymus Tensilon test Dx and distinguishing from cholinergic crisis Edrophonium (T1/2 10 mins) Look for objective improvement in ptosis (require observer) Cardiac monitoring for bradycardia and asystole (Rx with atropine) 1 mg test dose and up to 10 mg In cholinergic crisis, will get increased salivation etc Note that in ALS, improvement in muscle weakness also occurs Ice Pack test Ice applied with glove to eyelids for 2 mins Improvement in ptosis is dx (positive in 80%) Electrodiagnostic studies th th Repetitive nerve stimulation test – shows a decrease in the compound muscle action potential by 10% in the 4 or 5 response to a train of nerve stimuli Single fibre nerve electromyography – evidence of neuromuscular blockade with increased jitter

84

How do you grade the severity of the weakness? Myasthenia Gravis Foundation of America o Grade 1 – affects the ocular muscles only o Grade 2 – mild weakness affecting muscles other than ocular muscles 2A – Affects the limb and axial muscles 2B - Affects the respiratory and bulbar muscles o Grade 3 – moderate weakness (3A AND 3B) o Grade 4 – Severe weakness (4A and 4B) o Grade 5 – Intubation required Osserman‟s grading o I: Ocular o II A: Mild generalised with slow progression o II B: Moderate generalised o III: Acute fulminant MG o IV: late severe MG (takes 2 yrs to progress from I to II) How would you manage? Emergencies in crisis (ABC) Treat exacerbating factors Stop medications that can exacerbate Treat fever with antipyretics Treat infections Oral pyridostigmine, neostigmine Steroids, azathioprine, cyclosporine Plasmapheresis IVIG Thymectomy What are the complications? Myasthenic crisis Severe exacerbation of MG 10% require intubation Treatment complications Cholinergic crisis Cx of medications What is Eaton-Lambert syndrome? Myasthenic disorder associated with malignancy such as small cell ca of lung Affects the proximal (especially the pelvic girdle and thigh) and truncal musculature; bulbar muscles is rarely involved Improves with exercise Presence of Abs to calcium channels

85

37. Approach to Examination of the Eyes 1.

Isolated nerve palsies

2.

Combined nerve palsies Non conforming Dysthyroid eye disease Myasthenia gravis/Lambert Eaton Syndrome Miller Fisher syndrome Mononeuritis multiplex Others – brainstem pathology (V1), Kearnes Sayre, botulism, Wernicke‟s Conforming Superior orbital fissure syndrome Cavernous sinus thrombosis

3.

Pupillary abnormalities (See Eye Short cases)

4.

Ptosis

5.

Gaze Abnormalities Supranuclear gaze palsies – PSP, Parinaud‟s Gaze palsies – INO and One and half eye Nerve Palsies (III and IV) Wernicke‟s

6.

Nystagmus (See Eye Short cases)

7.

Visual Acuity

8.

Visual Fields

9.

Fundoscopy Papilloedema Optic atrophy Retinitis pigmentosa DM Hypertensive Chorioretinitis CRVO CRAO

86

38. Gaze Palsies INO Examination (example right INO) o Cs Abduction of the left eye with nystagmus a/w failure of adduction of the right eye on leftward gaze The right eye is able to independently adduction Saccadic eye movement – horizontal saccade is abnormal with the right eye lagging behind the left eye o Lesion is in the Pons – convergence is intact Midbrain – convergence is lost o Proceed with other CNs examination Multiple sclerosis (RAPD) Myasthenia gravis o Limbs Multiple sclerosis – cerebellar signs CVA – DM dermopathy, xanthelasma, AF o Request for fundoscopy (optic atrophy) Presentation o Sir this patient has a right INO as evidenced by Cs o The lesion is in the midbrain (anterior INO) or pons (posterior INO) o Evidence for MG o Evidence of MS o Evidence for CVA Questions o What causes a right INO? Lesion in the right medial longitudinal fasciculus that affects connects the ipsilateral third nerve innervation to the right medial rectus to the left gaze center (parapontine reticular formation ie PPRF) o What are the causes of INO? Multiple sclerosis Brainstem infarction Pontine glioma Infections Lyme‟s disease, Syphilis, Viral Drug intoxication (phenothiazines, TCAs, phenytoin, CMZ) Trauma o How would you Investigate? As above etiologies (MG, MRI, FPG, lipids, lyme titre, VDRL, drug) o How would you manage Mx of Multiple sclerosis Mx of infarction and risk factors Typically resolves with time WEBINO (Walled-eye Bilateral INO) Bilateral INO with exotropia and failure of convergence Lesions in the pons and midbrain Due to multiple sclerosis, vascular, gliomas and Wernicke‟s Fisher‟s one-and-a-half syndrome INO and ipsilateral gaze palsy Due to lesion in the MLF and adjacent gaze center Conjugate upward vertical gaze palsy Midbrain lesion MS, vascular, tumor Conjugate downward vertical gaze palsy Midbrain or Foramen magnum o Arnold-Chiari, Dandy Walker o Acquired lesions (tumor, vascular, demyelination, abscess) Supranuclear gaze palsy Progressive suprnuclear gaze palsies (see Parkinson‟s disease) o Loss of saccadic(frontal lobe) and pursuit movements (Occipital lobe) o Loss of downward gaze, then upward gaze then horizontal gaze o Can be overcome by Doll‟s reflex Parinaud‟s syndrome o Loss of vertical gaze, nystagmus on convergence, PseudoArgyll-Robertson pupils o Causes – Ms, vascular, pinealoma 87

39. Approach to Unilateral Ptosis Rule out pseudoptosis o Life up any droopy eyelids Muscle o Dystrophia myotonica (see Dystrophia Myotonica) Neuromuscular o Myasthenia gravis (See Myasthenia Gravis) Nerve o III nerve palsy (see III nerve palsy) o Horner‟s syndrome Unilateral Horner‟s syndrome Examination Examine the other cranial nerves o Cavernous sinus syndrome o Superior orbital syndrome o Lateral medullary syndrome (see CN syndrome) o Syringobulbia (V, VII, IX –XII) o Multiple sclerosis (INO, Cerebellar, RAPD) Neck o Scars – trauma, surgery o Neoplasia o Carotid aneurysm o Cervical rib Upper limbs (examine in this sequence) o Pronator drift then cerebellar signs (Lateral medullary syndrome) o Wasting of ipsilateral small muscles of hands (T1) o Clubbing o sensory loss T1 o Dissociated sensory loss (Syringomyelia) o Contralateral loss to pain and temperature (Lateral medullary syndrome) o Axilla – trauma to brachial plexus Chest o Pancoast tumor Inspection, dullness, auscultation Trachea deviation Ask for Loss of sweating and level Presentation Sir, this patient has a right sided isolated Horner‟s syndrome as evidenced by o Partial ptosis of the right eyelid o Miosis of the right pupil with an intact light reflex o Enophthalmos o Elevation of the lower eyelid o (Anhydrosis if you were allowed to ask the patient) There was no associated CN abnormalities in particular o Cavernous sinus syndrome o Superior orbital syndrome o Lateral medullary syndrome (see CN syndrome) o Syringobulbia (V, VII, IX –XII) o Multiple sclerosis (INO, Cerebellar, RAPD) Examination of the neck Upper limbs o Present axilla findings (stat the other findings with CN syndromes) Chest for Pancoast lesion DM dermopathy, xanthelasma Request to ask patient for loss of sweating. Summary

88

Questions What are the features of Horner‟s syndrome? Partial ptosis – paralysis of the upper tarsal muscle (Muller‟s muscle) Miosis – paralysis of pupil dilator Enophthalmos – paralysis of muscle of Muller Slight elevation of the lower eyelid – paralysis of the lower tarsal muscle Loss of sweating How do you delineate the site of lesion clinically? Loss of sweating St o Central lesion – loss in the head, upper trunk and arm (1 order) o Neck nd Proximal to the superior cervical ganglion – loss in face (2 order) rd Distal to superior crvical ganglion – no loss (3 Order) Adrenaline 1:1000 in both eyes (denervation hypersensitivity) o Above the superior cervical ganglion (peripheral) = dilates the affected eye o Below/Proximal to superior Cx ganglion or normal eye = no effect Cocaine 4% o Dilates normal eyes o No effect on the affected side if above/distal to superior cervical ganglion What are the causes of Horner‟s syndrome? Hypothalamus or brainstem o Stroke o Pontine glioma o Coning of temporal lobe Cervical cord (C8-T2 : intermediolateral column) o Syringomyelia o Multiple sclerosis o Tumor nd Superior Mediastinum (2 order nerves exits the spinal cord and synapses at the superior cervical ganglion) o Pancoast lesion (SCC of lung) o Trauma to brachial plexus Neck (carotid sympathetic plexus and superior cervical ganglion) o Neoplasia o Trauma o Surgery (cervical sympathectomy) o Carotid aneurysm o Carotid Dissection (triad of pain, ipsilateral Horner‟s and cerebral or retinal ischaemia) Idiopathic Congenital – heterochromia of the iris (grey-blue on the affected side) Migraine – causes intermittent Horner‟s syndrome

89

40. Approach to Bilateral Ptosis Muscular (usually no wrinkling of the forehead) o Dystrophia myotonica (see Dystrophia myotonica) o Ocular myopathy o Oculopharyngeal dystrophy o Chronic progressive external ophthalmoplegia (mitochondrial/Kearnes Sayrre) Neuromuscular o Myasthenia gravis (See Myasthenia gravis) Nerve rd o Bilateral 3 (rare) o Bilateral Horner‟s (Syringomyelia) o Tabes dorsalis o Miller Fisher syndrome Examination General screen for dystrophia myotonica or fascioscapular dystrophy Screen for myasthenia gravis Check CNs o III, Horner‟s o Argyll Robertson pupils (Tabes) o Ophthalmoplegia (Kearnes Sayrre) o Bulbar palsy (Syringomyelia) Neck Upper limbs o Ataxia (Kearnes sayrre, Miller Fisher) o Syringomyelia Flaccid and wasted ULs Dissociated sensory loss Spastic paraparesis o Areflexia (Miller Fisher) Complete examination by fundoscopy for retinitis pigmentosa (CPEO) Presentation This patient has bilateral ptosis No evidence of DM, MG No evidence of o Horner‟s, Syringomyelia o III o Argyll Robertson o Miller Fisher The possible aetiologies include ocular myopathy, oculopharyngeal myopathy, CPEO and congenital ptosis.

90

41. Assessment of Higher Cortical function “Examine this man‟s cortical function” o Obvious gaze preference or hemiparesis o

Determine which side first with sensory inattention (Opp to lesion) Visual inattention (always check gross VA first) Tactile inattention Line bisection test (parietal lobe function) Circling alphabets (frontal lobe)

o

Determine side (opp to lesion side) Astereognosis (coins, pen) Graphaesthesia (write 5 nos on each palm using pen with cover) Visual field for hemianopia

o

If suspect left side Dysphasia assessment (expressive, receptive, nominal and conductive) Gerstmann‟s syndrome (AALF)

o

If suspect right side Constructional apraxia (copy a cube) Dressing apraxia Spatial neglect (Right lesion = fill in nos on left only)

o

Parietal lobe function Gerstmann‟s and nominal dysphasia vs apraxia and spatial

o

Frontal lobe Grasp reflex and palmomental reflex, glabella tap Optic atrophy Anosmia Expressive dysphasia Labile emotion, personality changes Urinary catheter Gait apraxia

o

Temporal lobe Superior quandrantonopia Receptive dysphasia Short and long term memory

o

Occipital Lobe Cortical blindness Hemianopia with macula sparing

o

Look for contralateral UMN VII or ipsilateral XII

o

Check for pronator drift

o

Aetiology Proceed to check pulse, carotid bruit, murmur, hyperlipidemia, DM dermopathy and tar stains Request BP, urinalysis for DM and fundoscopy (papilledema)

o

Complications DVT, sacral sore, bedside swallow test, aspiration pneumonia

91

“Examine this man‟s speech” Shake his right hand o Look for weakness on the right UL (Dysphasia) o Look for ataxia of the UL (cerebellar) o Look for tremors (Parkinsonism) Dysphonia o Ask him for his name, how old he is, how he came to hospital and what he did this am o Recurrent Laryngeal nerve or laryngitis o Offer to examine the left chest, radiation marks, enlarged Cx LNs and look for Horner‟s, and wasting of T1 Dysarthria o British Constitution and count 1 to 20 Cerebellar : slow, slurred, explosive and irregular Parkinsonism : Monotonous, low volume o Exclude Cerebellar and Parkinsonism Proceed accordingly if these are detected o Say Ba Ba Ba – VII nerve palsy o Say La La La – Pseudobulbar palsy o Say Ke Ke Ke – Bulbar palsy Dysphasia o Expressive What is your favourite colour, what you have for breakfast this am Broca‟s area o Receptive close your eyes, close your eyes and stick out your tongue, close your eyes and stick out your tongue and lift both hands Wernicke‟s area – posterior part of first temporal gyrus o Conductive No if and or but Arcuate fasciculus – linking Broca‟s and Wernicke‟s area o Nominal Shirt, sleeve, button OR Watch, straps face Angular gyrus (temporal-parietal) o Global (Expressive and receptive) Once dysphasia is found o Do Gerstmann‟s syndrome Acalculia (serial 7 subtraction) Agraphia (inability to write) Left-right disorientation Finger agnosia o Demonstrate other cortical signs Visual fields, sensory inattention, graphaesthesia, astereognosis o Demonstrate UMN VII and hemiparesis o Determine aetiology as above (Vascular, tumour) o Determine complications as above

92

UPPER LIMBS! 42. Upper Limbs Overview Motor o Unilateral vs bilateral o Proximal vs distal vs entire UL o Myopathy, Neuromuscular and Neuropathy Sensory (See Lower Limbs) o Peripheral neuropathy o Mononeuropathy/mononeuritis multiplex o Rediculopathy Movement disorders Motor Distally Wasted hands o Myopathies o Nerve (Think of levels) Mononeuropathy Ulnar Median Radial Combination of above three Peripheral neuropathy Brachial plexus Roots Anterior Horn Spinal cord Claw hands o Partial claw – ulna claw hand (r/o dupytren‟s contracture) o Total claw Neurological – combined ulna and median, leprosy, brachial, polio, syringomyelia Non-neurological – RA, ischaemic contracture, Scleroderma Proximally Proximal myopathy, Dystrophia myotonica Myasthenia gravis Syringomyelia, Radiculopathy, upper brachial plexus Entire Upper Limb Bilateral o Cervical myelopathy o Syringomyelia o MND o Spinal Muscular Atrophy o Polyradiculopathy o Bilateral Brachial Plexus (trauma or bilateral cx Rib) Unilateral o Polio o Brachial neuritis o Polyradiculopathy o Hansen‟s disease o Hemiparesis o Infantile hemiplegia o Brown-Sequard

93

Movement disorders Parkinsonism Chorea and movement disorders o Think: 3,3,3 Peripheral : Parkinsonsim, Rh heart, SLE Face: Wilson‟s, Hyperthyroidism, Polycythaemia Request: CVS, Drug, AMT for Huntington Hemiballismus Cerebellar o Think

Unilateral: 4 Stroke and CNs and risk factors SOL and CNs Parkinsonism MS Bilateral (2/2/2/2/2/2) ULs o Alcohol o Parkinsonism o (NF) Eyes o Wilson‟s, MS Mouth o Hypothyroidism o Phenytoin o (Alcohol) LLs o FA o (Ataxia telangiectasia) General o Wasting (paraneoplastic) o Bilateral strokes Requests o Drugs o Infection

94

43. Radial Nerve Palsy Examination Suspect this on an apparently normal looking pair of ULs Proceed to examine the ULs as per normal, concentrating on median and ulnar nerve as well as brachial plexopathy Once radial nerve palsy detected, proceed to look for level o Demonstrate weakness of extension at the MCPJ o Preservation of IPJ extension (lumbricals and interossei muscles) o Weakness of wrist extension o (don‟t forget to extend wrist before testing grip strength) o (don‟t forget to test finger abduction and adduction with hands flat on a surface) o Test brachioradialis o Test triceps muscles, triceps jerk o Thumb abduction and Oschner‟s clasping test for median screen o Finger abduction and Froment‟s sign for ulnar screen o Look for reduced sensation in the first dorsal interosseous or anatomical snuffbox o Inspect the forearm, elbow, humerus and shoulder o Check the gums for lead poisoning – blue-black line on the gingival margin o Test Function Presentation Sir, this patient has got an isolated right radial nerve palsy at the level of the upper third of the humerus or above. I say this because of weakness of extension of the fingers at the MCPJ and at the wrist associated with weakness of the brachioradialis muscle, triceps muscles with weakness of extension at the elbow. In addition, there is also numbness of the first dorsal interosseous space. There is no evidence of concomitant ulnar or median nerve palsies. I did not detect any scars or deformities over the humerus or the axilla. (Mentioned other areas if the level is lower) There is also no clinical evidence of lead poisoning such as a blue-black line on the gingival margin. Possible causes include compression of the right radial nerve such as crutch palsy at the axilla or Saturday night palsy at the humerus. I also note that there is presence of a splint for his wrist and finger drop. He is able to perform coarse and fine motor function.

95

Questions What is the course of the radial nerve and its branches? o C5, 6,7,8, T1 and emerges from the posterior cord of the brachial plexus o Leaves the axilla and enters the arm between the long head and medial heads of the triceps and supplies the triceps o Spiral groove on the back of the humerus between the lateral and medial heads of the triceps o Lower third of the humerus, it pierces the intermuscular septum to enter the anterior compartment of the arm where it supplies the brachioradialis o It gives off a branch supplying the extensor carpi radialis longus o At the elbow, ie lateral epicondyle of the humerus, it gives off the posterior interosseous nerve which supplies all the extensors of the forearms including the abductor pollicis longus and supinator except the extensor carpi radialis longus o The radial nerve continues as the superficial radial nerve which provides sensory innervation of the posterior aspects of the radial 3 ½ digits. What are the various levels of lesions and what are the correlating clinical features? o Axilla eg crutch palsy – All gone including triceps and triceps reflex o Humerus Upper third – all is lost Middle third triceps and triceps reflex preserved and brachioradialis and below is lost Saturday night palsy Lower third – triceps and brachioradialis is preserved o Elbow Like lower third Only the PIN involved Extensors of the fingers at the MCPJ affected only Wrist drop is not a feature as the extensor carpi radialis longus is intact and this alone can effect wrist extension o Forearm PIN involvement Superfical radial nerve palsy; aka Watenberg syndrome which is an entrapment syndrome where there is pain and numbness over its distribution of the first web space dorsally only because of overlap What are the causes? o Trauma form accident or surgery o Compression or entrapment o Part of a mononeuritis multiplex o Lead poisoning o (for PIN, finger drop can be secondary to synovitis from RA) How would you investigate? o Detailed history for the cause o X-ray – for fracture, healing callus or tumor o EMG and NCT to locate the level of injury and to monitor recovery progress How would you manage? o Education and counselling o OT and PT with a wrist splint and cock-up splint for finger drops o Surgical What‟s the prognosis? o Neuropraxia with no disruption to the sheath or the axon Recovery complete and rapid (weeks) o Axonotmesis with disruption of the axon but an intact Schwann sheath Recovery complete but slower (1mm/day) o Neuronotmesis Recovery is incomplete

96

44. Median Nerve Palsy Examination Upon suspecting median nerve palsy, rule out ulnar and brachial neuritis Median nerve palsy Motor Wasted thenar eminence Thumb is externally rotated into the plane of the thumb rather than perpendicular Pen-touch test (for abductor pollicis brevis) Oschner clasping test (flexor digitorum superficialis) Flexion of the terminal digit of the thumb (flexor pollicis longus) Flexion of the terminal digit of the index finger (flexor digitorum profundus) Sensory Test for reduced sensation in the lateral 31/2 fingers as well as thenar eminence. Exclude ulnar and radial nerve palsy Aetiology Tinel‟s sign Look for RA hands Look at the wrist and forearm, elbow, arm and axilla for scars. Test for function Rule out Myxedema and acromegaly Presentation Sir, this patient has an isolated unilateral right median nerve palsy with wasting of the right thenar eminence associated with an externally rotated thumb. There is weakness of abduction of the thumb as demonstrated by the pen touch test associated with reduced sensation to pinprick in the right lateral 3 1/2 fingers. Oschner‟s clasping test is negative and flexion of the terminal phalanx of the thumb and index fingers are preserved, indicating that the level of the lesion is at the wrist. There is no ulna or radial nerve palsies. In terms of aetiology, there is also no evidence of RA of the hands and patient does not have features of hypothyroidism or acromegaly. Tinel‟s sign is negative and there are no scars noted on the right upper limb. Both fine and coarse motor functions are intact. In summary, this patient has a right median nerve palsy at the level of the wrist. Possible aetiologies includes surgical causes such as compression, trauma or surgery or medical causes such as mononeuritis multiples, infection, inflammatory and ischaemic causes.

97

Questions What is the course and branches of the median nerve? It supplies all the muscles of the forearm except the flexor carpi ulnaris and the ulna half of the flexor digitorum profundus and LOAF (lateral 2 lumbricals, opponens pollicis, abductor pollicis brevis and flexor pollicis brevis) Formed by lateral(C5-7) and medial(C8,T1) cords of the brachial plexus Enters the arm closely related to the brachial artery with no branches above the elbow Enters the forearm lateral to the brachialis tendon and in between the pronator teres. Gives off the anterior interosseous nerve Above the wrist, gives off the palmar cutaneous branch Enters the carpal tunnel and supplies LOAF and sensory branch to the lateral 3 ½ fingers. Branches Forearm – flexor carpi radialis, flexor digitorum superficialis (flexion of fingers at the PIPJ), pronator teres AIN – Flexor pollicis longus (flexion of the DIPJ thumb), flexor digitorum profundus of the lateral 2 fingers (flexion of at the DIPJ), pronator quadratus Palmar cutaneous (to the thenar eminence) Terminal motor (LOAF) (NB for F for flexion at the MCPJ thumb) What are the various levels of lesions and the clinical correlation? Wrist Wasting of thenar, ext rotated thumb, pen touch test positive; sensory loss of the lateral 3 ½ fingers Cubital fossa Above plus Oschner clasping test positive and failure of flexing the terminal digits of the thumb and index finger Arm and axilla (same as cubital fossa) (For forearm, depends where the lesion is eg AIN syndrome will affect flexor digitorum profundus and flexor pollicis longus only) What are the causes? Trauma Surgical Compression Mononeuritis multiplex Infection – Leprosy Inflammatory – CIDP Ischaemic - Vasculitis Causes of Carpal tunnel syndrome Idiopathic Pregnancy, OCPs Endocrine – Hypothyroidism, Acromegaly Hands – RA, gout, TB tenosynovitis, OA of carpus Amyloidosis, CRF, sarcoidosis

98

What are the tests to demonstrate a median nerve palsy? Tinel‟s sign (percussion) Phalen‟s test (flexion at the wrist for 60 s) Hyperextension of the wrist (for 60 s) Tourniquet test (sphygmomanometer for more than 2 mins above systolic) Luthy‟s sign – Skinfold does not close tightly around a bottle or cup; secondary to thumb abduction paresis Durkan‟s test – apply direct pressure over the carpal tunnel What are the other areas of nerve compression? Median nerve (CTS) Ulna nerve (elbow tunnel) Radial nerve (spiral or humeral groove) Meralgia paraesthetica (lateral cut nerve of the thigh at the ing lig) Common peroneal nerve (head of the fibula) Posterior tibial nerve (Tarsal tunnel syndrome) Plantar nerves of the 3rd/4th toes (Morton‟s metatarsalgia) How would you investigate? o Blood Ix o Imaging – X-rays o Nerve conduction test demonstrating slow sensory conduction across the transverse carpal ligament. How would you manage? Education OT and wrist splint Medications – treatment of underlying disease, withdrawing OCPs, IA steroid Surgical decompression What is the prognosis? o Neuropraxia with no disruption to the sheath or the axon Recovery complete and rapid (weeks) o Axonotmesis with disruption of the axon but an intact Schwann sheath Recovery complete but slower (1mm/day) o Neuronotmesis Recovery is incomplete

99

45. Ulnar Nerve Palsy Examination Rule out median, radial and brachial neuritis Inspecting th th Wasting of the muscles of the hands, hypothenar eminence and partial clawing of the 4 and 5 fingers, sparing of the thenar eminence, ulnar paradox Proceed to tests for finger abduction and Froment‟s sign (weakness of the adduction of the thumb) th Test finger flexion of the 5 finger for flexor digitorum profundus involvement; test for wrist flexion at the ulna side and look for the tendon of the flexor carpi ulnaris Rule out median nerve (thenar eminence and ext rot thumb, pen touch test and Oschner clasping test) and radial nerve Sensory testing in the medial 1 ½ fingers; test T1 sensory loss Examine the wrist and elbows (feel for thickened nerve, wide carrying angle)) Function Thickened nerve (cf with Pb for radial and Acromeg etc for median) Presentation Sir, this patient has got a isolated left ulnar palsy as evidenced by a left ulnar claw hand with wasting of the small muscles of the hands with dorsal guttering as well as wasting of the hypothenar eminence. There is sparing of the thenar eminence. th

There is weakness of finger abduction and Froment‟s sign is positive. There is preservation of the flexion of the DIPJ of the 4 and th 5 fingers; when the hand is flexed to the ulna side against resistance, the tendon of the flexor carpi ulnaris is palpable. This is associated with reduced sensation to pinprick in the medial 1/1/2 fingers. There are no associated median or radial nerve palsies and T1 involvement. In terms of aetiology, there is a scar at the wrist associated with a marked ulnar claw hand, demonstrating the ulna paradox. I did not find any signs to suggest leprosy such as thickened nerves, hypopigmentation patches or finger resorption. Both coarse and fine motor function of the hand is preserved. In summary, this patient has a left ulna claw hand due to a traumatic injury to the left wrist.

100

Questions What is the anatomical course of the ulnar nerve? th It provides motor to all muscles of the hands except the LOAF; flexor carpi ulnaris and flexor digitorum profundus to the 4 and th 5 fingers. Sensory to the ulna 1 ½ fingers Begins from the medial cord of the brachial plexus (C8 and T1) No branches in the arm Enters the forearm via the cubital tunnel (medial epicondyle and the olecranon process) and motor supply to the flexor carpi ulnaris and ulna half of the flexor digitorum profundus It gives off a sensory branch just above the wrist and enters Guyon‟s canal and supplies the sensory medial 1½ fingers and hypothenar as well as motor to all intrinsic muscles of the hands except LOAF. What is the level of lesions and its clinical correlation? Wrist – Hypothenar eminence wasting, Froment‟s positive, weakness of finger abduction, pronounced claw and loss of sensation Elbow – less pronounced claw and loss of terminal flexion of the DIPJ and loss of flexor carpi ulnaris tendon on ulna flexion of the wrist How do you differentiate ulnar nerve palsy vs a T1 lesion? Motor – wasting of the thenar eminence in addition for T1 Sensory – loss in T1 dermatomal distribution What is the ulna claw hand? th th th th It refers to the hyperextension of the 4 and 5 MCPJ associated with flexion of the IPJs of the 4 and 5 fingers as a result of th th ulnar nerve palsy. It is due to the unopposed long extensors of the 4 and 5 fingers in contrast to the IF and MF which are counteracted by the lumbricals which are served by the median nerve. What is the ulnar paradox? It means that the ulnar claw deformity is more pronounced for lesions distally e.g. at the wrist as compared to a more proximal lesion e.g. at the elbow. This is because a more proximal lesion at the elbow also causes weakness of the ulnar half of the flexor th th digitorum profundus, resulting in less flexion of the IPJs of the 4 and 5 fingers. What is Froment‟s sign? Patient is asked to grasp a piece of paper between the thumbs and the lateral aspect of the index finger. The affected thumb will flex as the adductor pollicis muscles are weak. (Patient is trying to compensate by using the flexor pollicis longus supplied by median nerve) What are the causes of an ulnar nerve palsy? Compression or entrapment (Cubital tunnel at the elbow and Guyon‟s canal at the wrist) Trauma (Fractures or dislocation – cubitus valgus leads to tardive ulnar nerve palsy) Surgical Mononeuritis multiplex Infection – leprosy Ischaemia – Vasculitis Inflammatory - CIDP How would you investigate? Blood Ix to rule out DM if no obvious cause X-rays of the elbow and wrist (both must be done to rule out double crush syndrome) (KIV C-spine and CXR) EMG(axonal degeneration for chronic) and NCT(motor and sensory conduction velocities useful for recent entrapment as well as chronic) to locate level and monitor How would you manage? Education and avoidance of resting on elbow OT, PT Medical – NSAIDs and Vit B6 Surgical decompression with anterior transposition of the nerve NB: LOAF – lateral 2 lumbricals, opponens pollicis, abductor pollicis brevis and flexor pollicis brevis

101

46. Wasted Hands Unilateral vs Bilateral (think of levels!) Unilateral Think of (no myopathy, got brachial plexus) Peripheral nerve (median, ulnar or combined) Mononeuropathy vs peripheral neuropathy (asymmetric involvement) Brachial plexus (trauma, tumor, radiation, Cx rib) C8-T1 root lesions (Cx spondylosis) Anterior Horn Cell (Poliomyelitis) Cervical cord Proceed as: Long case – as per protocol, check also neck and chest Short case On inspection, unilateral wasted hands noted Neurological hand screen Examine for ulnar and median nerve palsies. Check for sensory for nerve vs root (peripheral nerve vs brachial plexus) and no loss (ie anterior horn cell) Note sensory for ulnar, median and radial Note sensory of peripheral neuropathy Note dermatomal sensory Feel for thickened nerves, look for hypoaesthetic macules, fasciculations Look for scars in the axilla and neck (neck pain, tenderness), Cx rib Check function Requests Palpate for cervical rib and features of Pancoast‟s tumor (dullness to percussion, Horner‟s syndrome, hoarseness voice) Check for winging of scapula (for brachial plexus involvement) If brachial plexus Upper vs lower (wasting of muscles of hands) vs complete Surgical(Cx rib, Pancoast) vs medical cause(brachial neuritis) Test for proximal involvement Serratus anterior (winging of scapula on pushing against wall) ie C5,6,7 Supraspinatus (abduction of UL from hands by your side position) C5 Infraspinatus (elbow flexed and push backwards) C5 Rhomboids (hand on hip and push backwards) C4,5,6 Reflexes (inverted supinator jerk)

102

Bilateral Think of Rule out the obvious (hand screen) RA, gouty hands Dystrophia myotonica Levels (got myopathy, maybe brachial plexus if bilateral Cx ribs) Distal myopathy (reflexes normal; rare), dystrophia myotonica Peripheral nerve lesions Combined CTS (see median nerve palsy) Combined ulnar and median nerve Leprosy (resorption, hypoaesthetic macule and thickened nerve) HMSN (look at the feet for pes cavus deformities, thickened nerves) Peripheral motor neuropathy (Not likely to be brachial plexus unless bilateral Cx ribs) Nerve roots Cervical spondylosis (inverted supinator jerk, increased jerks for high cervical cord lesions) Anterior Horn cell (no sensory loss) MND (fasciculations) Poliomyelitis SMA Spinal cord lesions Intramedullary (Syringomyelia – dissociated sensory loss) Extramedullary Request LL – spastic paraparesis ( if suspect Cx cord, MND) Lower cranial nerve (bulbar palsy – if suspect MND or syringomyelia) Proceed as Long case Proceed as per normal Examine or request to examine the neck (pain tenderness and pain on neck movements), chest, CNs and LLs accordingly Short case Neurological hand screen Median and ulnar nerve testing, and wrist drop( because this is also weak in C8 root lesions) Sensory – peripheral nerve vs neuropathy vs root Check the elbows for thickened nerves Look for fasciculations (peripheral nerve, neuropathy, MND), hypoaesthetic macules Inspect the neck Quick glance at the face (NG tube – bulbar palsy, LLs – HMSN) Check function Request for reflexes, percussion myotonia if deemed appropriate (if suspect Cx cord lesion or dystrophia myotonica)

103

Questions What are the levels and causes? Disuse atrophy (RA hands) Myopathy (distal myopathies or dystrophia myotonica – usually forearms more affected) Peripheral neuropathy - motor (see causes in Neurology segment) Mononeuropathy Surgical, trauma or compression Mononeuritis multiplex, infection, inflammatory and ischaemic Brachial Plexus Surgical, trauma compression (Pancoast‟s, Cx rib) Brachial neuritis Nerve root (Disc prolapse) Anterior Horn cell MND, poliomyelitis, SMA Spinal cord Intramedullary Extramedullary How would you Ix? Blood Ix according to causes as above Imaging – X-rays, CT or MRI of spine NCT/EMG What are the causes of a claw hand? Partial claw Ulnar nerve palsy (See Ulnar nerve) True Claw Non-neurological RA Severe Volkmann‟s ischaemic contracture Neurological (5) Combined median and ulnar nerve Leprosy (reflexes present. Pain loss, thickened nerves) Lower brachial plexus ( C7-T1, selective loss of reflexes, pain loss) Poliomyelitis (reflexes selective, pain intact) Syringomyelia (reflexes absent, pain loss)

104

47. Syringomyelia Examination Proceed as per normal for the upper limbs Once dx is made, request o Examine the neck Scars of previous Sx Scoliosis o The cranial nerves Horner‟s syndrome Ataxia and nystagmus Bulbar palsy (syringobulbia) Loss of temperature and pain sensation from the outer part of the face progressing towards the center o The lower limbs Spastic paraparesis Presentation Sir, this patient has got syringomyelia as evidenced by LMN pattern of weakness of both ULs o Wasting and weakness of the small muscles of the hands and forearms o Reduced tone and reflexes There is dissociated sensory loss with o Loss of sensation to pinprick in the ULs and upper chest o With intact sensation to vibration and proprioception I also noticed presence of o Scars and old burn marks on his fingers o But I did not detect any Charcot‟s joints of the ULs o La main succulente – ugly, cold, puffy, cyanosed hands with stumpy fingers and podgy soft palms Examination of the face o There was no evidence of bulbar palsy Palatal movements were normal, and CN XI and XII were intact o There was also no Horner‟s syndrome o No ataxia or nystagmus o However there is loss of sensation to pinprick of the face in an “onion skin pattern” Examination of the neck o No surgical scars noted o No kyphoscoliosis Examination of the lower limbs o Spastic paraparesis In summary, this patient has syringomyelia with presence of wasting of the upper limbs, dissociated sensory loss and spastic paraparesis of the lower limbs. This has resulted with complications of repeated trauma of his hands.

105

Questions What is syringomyelia? Cavity formation with presence of a large fluid filled cavity in the grey matter of the cervical spinal cord which is in communication with the central canal and contains CSF. Triad of LMN weakness of the ULs, dissociated sensory loss in the ULs and UMN weakness in the LLs How do patients present? th th Rare disorder, 4 to 5 decades, male=females Painless trauma or burns in the upper limbs, poorly localised pain in the ULs What is the pathophysiology? At the level of the syrinx o LMN – anterior horn cell affected o Dissociated sensory loss – affects the decussating fibres of the spinothalamic tract Below the level of the syrinx o Affecting the pyramidal corticospinal tract with spastic paraparesis of the LLs and preservation of sphincters Extension into the upper cervical cord and medulla o Horner‟s syndrome o Bulbar palsy (CN IX-XII) o Ataxia and nystagmus ( affects the medial longitudinal bundle if lesion from C5 upwards) o Onion skin pattern loss of pain in the face (spinal nucleus of V CN which extends from the pons to the upper cervical cord) What are the differential diagnoses for dissociated sensory loss? Anterior spinal artery occlusion (affects the spinothalamic tract) DM neuropathy, leprosy, hereditary amyloidotic polyneuropathy What are your differential diagnoses for syringomyelia? Craniovertebral anomalies Spinal cord injuries Intramedullary tumours of the spinal cord Arachnoiditis around the foramen magnum obstructing CSF flow Hematomyelia What are the associated abnormalities? Arnold-Chiari malformation Bony defects around the foramen magnum Hydrocephalus Spina bifida Spinal cord tumours How would you Ix? MRI scan of the spinal cord How would you manage? Drainage of the syrinx to the subarachnoid space Syringoperitoneal drainage In AC malformation, cervical laminectomy and removal of the lower central portion of the occipital bone Intramedullary tumour excision What is syringobulbia? Syrinx in the medulla of the brainstem Usually extension of the syringomyelia but can be isolated Results in o Horner‟s o Ataxia and nystagmus o Bulbar palsy o CN V, VII, IX and X especially o Onion skin pattern of loss of pain sensation of the face

106

48. Dystrophia Myotonica Approach to Congenital Myopathies 1. Duchenne‟s, Becker‟s 2. Myotonia Dystrophia myotonica (fascioscapular dystrophies can mimic appearance) Congenital myotonia Hereditary paramyotonia 3. Fascioscapulahumeral dystrophies, limb-girdle dystrophies, distal myopathies Examination Examine patient‟s face or hands (Can be short case of locomotor or in CNS station) Examine the hands Demonstrate difficulty opening hands after shaking Repeatedly open and close the hands Percussion myotonia of the thenar eminence (proceed with hand examination with function assessment if locomotor station) Demonstrate weakness in the forearms (especially) and hands No sensory loss Loss of reflexes Check the pulse (dysrhythmias, small volume pulse) Examine the face Myopathic facies Expressionless Triangular facies Wasting of the temporalis, masseter (palpate these muscles when patient clenches teeth) Frontal balding Bilateral ptosis Close his eyes and open Tongue for percussion myotonia Gum hypertrophy from phenytoin toxicity Swan-neck appearance with wasting of the SCM (test for weakness of SCM), weakness of flexion of the neck Nodular thyroid enlargement Request Face Cataracts - posterior subcapsular and stellate Assess Speech – slurring due to myotonia of the tongue and pharyngeal muscle Chest examination Gynecomastia Cardiovascular examination – dilated cardiomyopathy (split S1, mitral murmur, low BP and pulse volume) Testicular atrophy Urine dipstick for diabetes mellitus Lower limbs – bilateral footdrop Presentation Sir, this patient has got dystrophia myotonica as evidenced by A myopathic facies that is triangular in appearance with an expressionless look. There is wasting of the facial muscles involving the temporalis and masseter muscles associated with frontal balding and bilateral ptosis. He had difficulty opening his eyes after firm closure. There was myotonia affecting the tongue. There is also a swan-neck appearance with wasting of the sternocleidomastoid muscles with weakness of flexion of the neck. On shaking his hand, there was a delay in releasing his grip. In addition, after making a fist, he was unable to quickly open it especially after doing this repetitively. There was also presence of percussion myotonia of the thenar eminence. There is presence of proximal myopathy and wasting with involvement of the forearms and hands. There are also reduced reflexes with no sensory loss detected. Function is relatively preserved. With regards to complications His pulse is regular at 80 bpm with a small volume pulse suggesting dil CMP There was no gum hypertrophy to suggest chronic phenytoin use. There is nodular thyroid enlargement. I would like to complete my examination by Face Cataracts - posterior subcapsular and stellate Assess Speech – slurring due to myotonia of the tongue and pharyngeal muscle Chest examination Gynecomastia Cardiovascular examination – dilated cardiomyopathy (split S1, mitral murmur, low BP and pulse volume) Testicular atrophy Urine dipstick for diabetes mellitus Lower limbs – foot drop with high steppage gait (tibial nerves are affected early) 107

Questions What are the types of muscular dystrophies you know of? 1. Duchenne‟s Sex linked Pseudohypertrophy of the calves or deltoids Gower‟s sign, proximal weakness Cardiomyopathy Becker‟s Sex linked Later onset and less severe form of Duchenne‟s 2. Limb-girdle Autosomal recessive Shoulder and pelvic girdle affected Third decade Sparing of the face and heart Fascioscapulohumeral Autosomal dominant Bilateral, symmetrical weakness of the facial and SCM with bilateral ptosis Weakness of the shoulder muscles and later the pelvic girdle muscles 3. Dystrophia myotonica Congenital myotonia Hereditary paramyotonia 4.

Distal myopathies eg Welander‟s myopathy

What is myotonia? Continued contraction of the muscles after voluntary contraction ceases, followed by impaired relaxation. What is dystrophia myotonica? Characteristic clinical appearance with myotonia and weakness with no sensory loss Autosomal dominant with a trinucleotide (AGC) repeat disorder on chromosome 19 Anticipation – phenotypic expression worsens with each successive generation rd th Onset in the 3 or 4 decade Males>females In addition to the characteristic facies and musculoskeletal involvement Intellectual and personality disorder Cataracts – posterior subcapsular cataracts which are stellate type CVM – dilated cardiomyopathy and conduction defects Resp – recurrent infection from weakness of the bronchiolar musculature, hypoventilation and post-anaesthetic respiratory failure Abdomen – dysmotility and dysphagia Testicular atrophy and gynecomastia Diabetes mellitus Nodular thyroid enlargement How would you investigate? Confirm Diagnosis EMG – dive bomber pattern ie waxing and waning of the potentials Muscle biopsy shows no inflammatory changes with type 1 fibre atrophy which is characteristic but not diagnostic DNA analysis Muscle enzymes are normal Screen for Complications FPG – screen for diabetes mellitus ECG – heart blocks, small P, prolonged PR, notched QRS and prolonged QTc CXR – enlarged heart Slit-lamp examination for cataracts How would you manage? Education, genetic counselling PT/OT – eg foot orthosis for foot drop Medications – phenytoin for myotonia, other anti-myotonic medications such as quinine and procainamide should be avoided due to aggravation of cardiac conduction defects; however it is the weakness that causes disability and not myotonia rd Pacemaker for 3 degree heart block or symptomatic such as syncope

108

How would you counsel the patient‟s family? Vertical Autosomal dominant, children 1 in 2 Anticipation DNA analysis is available for some families for prenatal diagnosis Horizontal Screen with clinical examination Slit-lamp examination EMG What are the other types of myotonia disorders? Myotonia congenita (Oppenheim‟s disease) Autosomal dominant or recessive Presence of myotonia without other features of dystrophia myotonica Present at infancy with difficulty feeding with subsequent improvement No weakness and reflexes are preserved Herculean appearance Channelopathies Hereditary paramyotonia Autosomal dominant Cold-induced myotonia What are your differential diagnoses for dystrophia myotonica? Facies appearance – Facioscapulohumeral dystrophy Autosomal dominant, onset at age 10-40, Chr4, normal lifespan Face – ptosis, difficulty closing eyes, facial weakness and speech impaired Normal IQ Neck – wasted SCM and weakness Shoulder – winging of scapula, weakness of pectoralis, trapezius, biceps and triceps and hypertrophy of deltoids Occasionally affecting the anterior tibialis Normal CK Proximal weakness – FSH, limb-girdle, prox myopathy causes, MG Limb Girdle dystrophy (see prox myopathy) Distal weakness – Welander‟s distal myopathy, nerve problem Myotonia – Congenital myotonia, hereditary paramyotonia

109

49. Cerebellar Signs Examination Stem statement Giddiness, falls, unsteadiness Face, Speech, ULs and LLs Unilateral Upper limbs Screen for pronator drift, ensure patient can see your finger! Cerebellar signs Dysmetria with intention tremor Dysdiadochokinesia Dyschronometria Power for ataxic hemiparesis Sensory Temperature/Pain loss in syringomyelia and LMS Tone for cogwheel and leadpipe rigidity Skin for neurofibromatosis Pulse for AF Face Gaze evoked nystagmus (in the direction of gaze), INO, RAPD Speech (Count 1 to 20; British Constitution; West Register Street) Cerebellar speech – jerky, explosive and loud; irregular syllables CNs CPA LMS III nerve palsy in Benedikt‟s syndrome Xanthelesma Lower limbs Dysmetria and intention tremor for toe to finger test Dyssynergia for heel-shin test Dysdiadochokinesia for foot tapping test DM dermopathy Sit up with hands folded and tests for pendular jerks Gait Broad based gait with veering towards the side of the lesion Request to test visual fields for hemianopia Bilateral Upper Limbs Cs of cerebellar (dysmetria, dysdiadochokinesia and dyschronometria) Sensory – loss of temperature/pain for syringomyelia Parkinsonism NF features Alcoholic features – dupytren‟s contracture, stigmata of chronic liver disease Face CNs Bilateral CPA tumor Multiple sclerosis Eyes Gaze evoked nystagmus KF rings INO, RAPD Mouth Gingivial hypertrophy Macroglossia Telengiectasia Parotidomegaly Goitre Speech Cerebellar speech Hoarseness of voice Lower limbs Cerebellar signs Clawing of toes (Friederich‟s ataxia) Sit – truncal ataxia and pendular jerks Gait – cerebellar gait 110

Presentation Unilateral Sir, this patient has a right sided unilateral cerebellar lesion as evidenced by presence of a right dysmetria, dysdiadochokinesia and dyschronometria of the right upper limb. The right lower limb also demonstrates presence of right dyssynergia on heel shin test, with right dysmetria and intention tremor on toe-finger test and dysdiadochokinesia. This is associated with a gazed evoked nystagmus on rightward gaze with a broad based gait with veering towards the right. I did not detect any cerebellar speech or any truncal ataxia. There are no associated cranial neuropathies. In particular there was no evidence of any cerebello-pontine angle lesion with CN V, VI, VII and VIII intact. (There are also no signs of neurofibromatosis such as neurofibromas or café-au-lait spots.) There is also no evidence of lateral medullary syndrome or III nerve palsy to suggest Benedikt‟s syndrome. There is also no pronator drift on the right to suggest a right ataxic hemiparesis. Patient is in sinus rhythm and not in atrial fibrillation with no xanthelesma or diabetic dermopathy. There are also no bruises to suggest overanticoagulation. There are no signs of Parkinsonism to suggest presence of multiple system atrophy. There are also no associated features of multiple sclerosis such as RAPD or INO. I would like to complete the examination by looking at 1. The patient‟s temperature chart for fever (abscess in posterior fossa) 2. Visual fields for a left sided hemianopia, which can occur with a right posterior circulation stroke 3. I would also like to do a fundoscopy for papilloedema for a SOL in the right cerebello-pontine lesion as well as for optic atrophy from demyelinating disease. In summary, this patient has got an isolated right cerebellar lesion. The differential diagnoses include cerebral vascular infarction or haemorrhage or a space-occupying lesions such as a mitotic lesion or an abscess. Bilateral Sir, this patient has bilateral cerebellar lesions as evidence of dysmetria with intention tremor bilaterally associated with dysdiadochokinesia. Similar findings were also present on examination of the lower limbs. There is also presence of multidirectional gaze evoked nystagmus associated with a cerebellar speech, truncal ataxia and a broad based gait. There is no evidence of bilateral CPA lesion with no CN V, VI, VII and VIII abnormalities. Patient is in sinus rhythm and not in AF with no xanthelesma or diabetic dermopathy. There is no evidence of KF rings to suggest presence of Wilson‟s disease. There is also no RAPD or INO to suggest multiple sclerosis. There is also no gingival hypertrophy to suggest chronic phenytoin use. Patient has no goitre or features of hypothyroidism such as a cream and peaches complexion, no hoarseness of voice or macroglossia. There are also no features of chronic ethanol ingestion such as Parotidomegaly, dupytren‟s contracture or stigmata of chronic liver disease. There is no associated Parkinsonism signs to suggest multiple system atrophy such as presence of cog-wheeling or leadpipe rigidity. There are also no neurofibromas present to suggest presence of NF type 2. Patient is also not cachexic looking and there is no clubbing to suggest underlying malignancy. I did not detect any telengiectasia to suggest presence of Ataxia telengiectasia and there is pes cavus to suggest Friederich‟s ataxia. (Think of Wilson‟s, MS, Phenytoin, Hypothyroid, Alcohol, Parkinsonism, NF, paraneoplastic, telangiectasia and FA) I would like to complete the examination by 1. Looking at the temperature chart for fever 2. Performing a neurological examination of the lower limb to look for spastic paraparesis 3. I would also like to do a fundoscopy for Optic atrophy, which may suggest demyelinating disease. In summary, this patient has bilateral cerebellar syndrome. Possible causes include drugs such as phenytoin, metabolic conditions such as hypothyroidism, chronic ethanol ingestion, paraneoplastic conditions and infection such as enteroviruses and bilateral cerebellar strokes.

111

Questions What are the differential diagnoses for a unilateral cerebellar syndrome? Isolated Cerebrovascular accident – infarction or haemorrhage SOL in posterior fossa – abscess or mitotic (primary vs secondary) Associated CN CPA and/or neurofibromatosis Lateral medullary syndrome Jugular foramen (Arnold-Chiari or Dandy-Walker) Benedikt‟s syndrome Ataxic hemiparesis (lacunar stroke) Parkinsonism in Multiple system atrophy Demyelinating such as Multiple sclerosis What are causes of bilateral cerebellar syndrome? Acquired Infection Viral – HIV, Enteroviruses Spirocheatal – Lymes and Tabes dorsalis Others – Toxoplasmosis and CJD Metabolic Wilson‟s disease Hypothyroidism Drugs Phenytoin and Carbamazepine Lithium Alcohol Causes bilateral cerebellar signs Causes isolated lower limb cerebellar signs Affects the anterior vermis Due to thiamine deficiency Multiple system atrophy Neurofibromatosis type 2 with bilateral CPA tumor Bilateral Strokes Paraneoplastic – Ca lung or ovary Hereditary Ataxia telangiectasia Autosomal recessive Childhood with death by 20s or 30s Ataxia, choreathetosis and telengiectasia on the face, eras and conjunctiva and skin crease Low IgA with recurrent chest infections and lymphoreticular malignancy Friederich‟s ataxia Scoliosis, pes cavus Spastic paraparesis, dorsal column loss, absent ankle jerks What are the signs of a midline lesion (cerebellar vermis) and what are the causes? Signs : truncal ataxia, abnormal heel-toe walk test, cerebellar speech Causes : Midline tumor, paraneoplastic What are the causes of cerebellar signs with spastic paraparesis? Friederich‟s ataxia Spinocerebellar ataxia Arnold-Chiari Malformation Lesion at the craniospinal junction eg meningioma Syringomyelia Multiple sclerosis Syphilitic meningomyelitis

112

How are cerebellar signs located? Limb ataxia = cerebellar lobes Gait ataxia = anterior vermis Truncal ataxia = posterior vermis What are the differences between cerebellar and sensory ataxia? Cerebellar Sensory Site Cerebellar Posterior column, nerves Tone Reduced Normal Reflexes Normal or pendular Reduced Sensory Normal Reduced Sphincter disturbance Nil Affected when posterior column involved; overflow incontinence How would you investigate? Imaging – MRI brain Blood tests according to the causes How would you manage? Depends on underlying cause

113

50. Chorea (Beware the Parkinsonism with dyskinesia!) Approach 1. Introduce, sit the patient 2. Lift up hands a. Involuntary athetoid movements/choreiform movements b. Choreic posture c. Dish spooning d. Pronator drift e. Milk-maid‟s grip f. Look for wasting of the muscles and joint deformities g. Look for erythema marginatum and subcutaneous nodules h. Check for Parkinsonism i. SLE signs 3. Check for long tract signs especially if hemiballismus or one sided 4. Eyes a. KF rings b. Conjuctival suffusion c. Dysthyroid eye disease, nystagmus d. Plethoric facies e. Darting tongue f. Goiter 5. Walk the patient – effeminate gait, Parkinsonian gait Presentation Sir, this patient has chorea/athetosis affecting her left hand. I say this because of presence of brief, abrupt, irregular, quasipurposeful movements of the left hand with writhing and twisting movements (athetosis). There is choreic posturing of the left hand with a flexed wrist and an extended mcpj; with dish spooning and milk maid grip, associated with darting tongue and an effeminate gait. There were no features of Parkinsonism to suggest that dyskinesia is secondary to L-dopa therapy. There was no evidence of erythema marginatum or subcutaneous nodules which can occur in rheumatic heart disease. There is also no cutaneous rash to suggest SLE. There is also no pronator drift. There are also no KF rings or nystagmus to suggest Wilson‟s disease. There are no signs of polycythemia rubra vera as I did n ot notice any plethoric facies, conjunctival suffusion or pruritic scratch marks. There are also no goiter or thyroid eye signs. I would like to complete the examination by performing a cardiovascular examination to look for evidence of rheumatic heart disease, a mini-mental state examination for dementia as this occurs in Huntington‟s chorea, as well as take a drug history of neuroleptics and L-dopa and a past history of encephalitis.

114

Questions What are the different types of movement disorders that you know about? Tremors Resting tremor of Parkinsonism Intention tremor of Cerebellar Postural tremor of outstretched hands Anxiety Thyrotoxicosis Alcohol Drug induced – salbutamol, terbutaline, theophylline, Li Drug withdrawal – BZD, opiates Familial Chorea (globus pallidus) Athetosis Hemiballismus (subthalamic nucleus) Infarct Others – abscess, tumor, MS, AVM Search for CVS risk factors Rx – haloperidol, treat CV risk factors and Sx eg contralateral thalomotomy or pallidotomy Orofacial dyskinesia Secondary to antipsychotics usually, in pts with SZ One of the 4 EPSE Acute dystonia (oculogyric) Parkinsonism Akathisia (restless legs syndrome) Tardive dyskinesia (or orofacial dyskinesia) What are the causes of choreathetosis? CVA/tumors affecting the globus pallidus (Benedikt‟s syndrome - III) Metabolic – Wilson‟s disease Endocrine – Hyperthyroidism, post-hyperglycemia CTDs – SLE Polycythemia Rheumatic heart disease – Sydenham‟s chorea o Most recover within one month Huntington‟s Chorea Drugs – neuroleptics, L-dopa, phenytoin, OCPs Post encephalitis CO poisoning What is Huntington‟s disease? Young adult, chorea and dementia AD, Chr 4, CAG trinucleotide repeats

115

LOWER LIMBS! 51. Lower Limbs Overview Pes cavus CMT Spina Bifida Poliomyelitis Spinal cord tumours Freiderich‟s ataxia/spinocerebellar degeneration Syringomyelia Cerebral Palsy Muscular dystrophies Fasciculations (LMN type, MND) Wasting Bilateral Proximal weakness Wasting distally (Pes Cavus, Peripheral neuropathy) Spastic paraparesis (L&P 104) Cerebellar (MS/FA/Syphilitic meningomyelitis/Craniospinal jn/SCA) Sensory level (Lumbar/Thoracic/Cervical – ULs/Above – high Cx, CP) Dorsal Column Loss (SACD/Taboparesis/MS/FA) Mixed (Babinski + absent reflexes – see below) Friederich‟s ataxia SACD Tabo-paresis MND UMN + cauda equina or peripheral neuropathy(CVA+alcoholic/DM) MND Flaccid paraparesis Wasted GBS/CIDP/HMSN/Hansen‟s Poliomyelitis Spina Bifida No wasting Peripheral – GBS, HMSN, paraneoplastic, paraproteinemia, amyloid Cord compression Others – Miller-Fisher, MG, Periodic paralysis, botulism/diphtheria/organophosphate/Hg/Pb, AIP(BP) MND Bilateral Footdrop Unilateral Foot Drop Bilateral (Peripheral neuropathy – motor predominant, flaccid, spastic) Unilateral Peripheral neuropathy, CPN Sciatic nerve Root or anterior horn cell Look for complications- trophic ulcer, interventions – walking callipers Unilateral – Peripheral neuropathy, lumbosacral plexus, polyradiculopathy, polio (LMN) Brown-sequard (UMN) Diabetic amyotrophy Hemiparesis (UMN) Sensory loss Peripheral neuropathy Mononeuropathy Polyradiculopathy Lumbosacral Plexus Dissociated sensory loss, spinal cord level

116

Others Gait Cerebellar Unilateral Cerebellar – Vascular, MS, SOL eg abscess or tumour Combined – Lateral medullary syndrome, CPA tumour, ataxic hemiparesis Bilateral hypothyroidism, Wilson, Alcoholic cerebellar degeneration(spares the ULs), drugs phenytoin, paraneoplastic, Parkinson plus large CVAs, SOL, MS plus all causes of spastic and cerebellar Midline – paraneoplastic, midline tumour Spastic and Ataxic combined Spinocerebellar degeneration Friederich‟s ataxia Multiple sclerosis Syphilitic meningomyelitis Craniospinal junction abnormalities – Arnold-Chiari, meningioma Non conforming Myasthenia Gravis Mononeuritis multiplex Motor neurone disease Giddiness/Unsteadiness protocol Giddiness o Cerebellar o Vestibular o Postural BP Unsteady gait o Cerebellar o Parkinsonism o Sensory ataxia (Proprioception) o Others – hemiplegic gait, cervical myelopathy etc etc Examination for unsteady gait o Start with Lower Limbs FIRST As per LL protocol Concentrate on cerebellar, sensory ataxia and Parkinsonism Examine the gait! o Proceed with Parkinsonism protocol if Parkinsonian gait o Proceed with cerebellar protocol if cerebellar signs

117

52. Flaccid Paraparesis Examination Complete the LL examination Commonly HMSN Polio (infantile hemiplegia) Spina Bifida Cauda Equina Syndrome GBS/CIDP MND (see spastic paraparesis) Diabetic amyotrophy (See proximal myopathy) Concentrate on Ataxia – Miller Fisher Variant, Tick Paralysis Sensory No sensory abnormalities Myopathies Neuromuscular Nerves – certain conditions eg GBS, multifocal motor neuropathy Anterior Horn Cell Glove and stocking Peripheral neuropathy HMSN, paraneoplastic Mild and patchy = GBS Sensory level (Acute) Cord compression Cord infarction Transverse myelitis L5 and S1 sensory loss in spina bifida Typical features of HMSN Pes cavus, clawing of toes, contractures of Achille‟s tendon, inverted champagne bottles (wasting of distally and stops abruptly at the lower one third of thighs; also similar distal wasting distally in the ULs) LMN – reduced tones and no clonus, reduced reflexes and downgoing plantar response, weakness, bilateral footdrop Sensory – no sensory or mild glove and stocking Gait – high steppage gait of foot drop Marked deformity with minimal disability Others Feel for thickened nerves (lateral popliteal nerve) Examine the hands for small muscle wasting and clawing Examine spine for scoliosis Feel for thickened Greater Auricular nerves Wheelchair, calipers Examine Back Kyphoscoliosis Spina bifida – scars, tuft of hair, dimples, sinus or naevus Per rectal examination Saddle anaesthesia and cauda equina syndrome Incontinence – fecal and urinary Upper limbs CNs- fatiguibility, GBS (bilateral VII) Functional aids

118

Presentation Obvious disease HMSN Sir, this patient has got HMSN/CMT as evidenced by Bilateral pes cavus with clawing of toes and distal wasting of the lower limbs with a inverted champagne bottle appearance; there is hypotonia with reduced reflexes and downgoing plantar responses a/w weakness of the lower limbs of power 4/5 with bilateral foot drop; there is no associated sensory disturbance; she has a high steppage gait form bilateral foot drop and is able to walk independently inspite of the marked feet deformity; I also noticed presence of wasting and clawing of the upper limbs; there is no palpable thickened lateral popliteal nerve. I would like to complete my examination by examining the spine back for scoliosis and palpate for other sites of thickened nerves Mention walking aids or wheelchair Polio Sir this patient has monoparesis of the right LL most likely due to polio A shortened right lower limb associated with wasting. It is hypotonic with reduced reflexes and downgoing plantar response and is flaccid with a power of 3/5. There is no sensory weakness. There is no UMNs or shortened wasted right UL to suggest infantile hemiplegia Examination of the back did not reveal any cutaneous signs of spina bifida. Mention any walking aids/wheelchair Not so obvious Sir, this patient has got flaccid paraparesis as evidenced by Presence of hypotonia with reduced reflexes a/w with downgoing plantar responses bilaterally; I did not detect any fasciculations. There is weakness of the LLs with a power of 3/5. There is no associated cerebellar signs in the LLs and no sensory loss to pin prick, propioception and vibration. Complete my examination Back Per rectal ULs for ataxia, flaccid paresis CNs for cranial neuropathies

119

Questions What are the causes of flaccid paraparesis? Acute myopathies Inflammatory myopathy (polymyositis, dermatomyositis) Rhabdomyolysis (extreme exertion, drugs, viral myositis, crush injury etc.) Acute alcoholic necrotizing myopathy Periodic paralyses (hypokalemic, hyperkalemic) Metabolic derangements (hypophosphatemia, hypokalemia, hypermagnesemia) Thyroid or steroid myopathy Neuromuscular Myasthenia gravis Botulism Tick paralysis Other biotoxins (tetradotoxin, ciguatoxin) Organophosphate toxicity (can also cause neuropathy) Lambert-Eaton Myasthenic Syndrome (LEMS) Nerve Diphtheria Porphyria Drugs & Toxins (arsenic, thallium, lead, gold, chemotherapy – cisplatin / vincristine) Vasculitis (incl. Lupus, polyarteritis) Paraneoplastic and Paraproteinemias Multifocal motor neuropathy Nerve roots Guillian Barre Syndrome Lyme disease Sarcoidosis HIV other viruses (CMV, VZV, West Nile) Cauda equina syndrome (lumbar disc, tumour, etc.) Plexus lesions (brachial plexitis, lumbosacral plexopathy) Anterior Horn Cell (motor neuron diseases): Amyotrophic lateral sclerosis (ALS) – with UMN findings Poliomyelitis Kennedy‟s disease (spinobulbar atrophy / androgen receptor gene) other spinomuscular atrophies (inherited) Anterior spinal artery syndrome (with grey matter infarction) Spinal Cord (corticospinal tract diseases): Inflammatory (Transverse myelitis) Subacute combined degeneration (B12 deficiency) Spinal cord infarction other myelopathies (spondylosis, epidural abscess or hematoma Brain Pontine lesions (eg. Central pontine myelinolysis, basis pontis infarct or bleed) Multifocal lesions (multiple metastases, dissemination encephalomyelitis [ADEM], multiple infarcts or hemorrhages – eg. DIC, TTP, bacterial endocarditis)

120

What is Charcot Marie Tooth disease? Hereditary sensory motor neuropathy Consisting of 7 types of which types 1,2 and 3 are the most common types Type 1 – A demyelinating neuropathy, aut dominant, absent tendon reflexes, enlarged nerves; Chr 17 Type 2 – An axonal neuropathy, aut dominant (mild and present later), normal deep tendon reflexes, nerves not enlarged; Chr 1 Type 3 – rare, hypertrophic neuropathy of infancy, thickened nerves, aut recessive (Dejerine Sottas disease) Physical findings Above plus Others – optic atrophy, retinitis pigmentosa and spastic paraparesis Ix Rule out other causes of neuropathies EMG/NCT Biopsy Genetic testing Mx Eductaion and counselling and family screening PT/OT, AFOS Medical Rx – pain relief, avoid obesity Surgical treatment Px Normal life expectancy Disease usually arrest in middle life Disability varies Dy/Dx of hereditary disease Hereditary amyloidosis Refsum‟s disease – accumulation of phytanic acid Fabry‟s disease – deficiency of alpha galactosidase What is poliomyelitis? Enterovirus, picorna virus, with IP of 5-35 days, oro-fecal route or contaminated water, 3 serotypes Replicate in the nasopharynx and GIT and then to lymphoid tissue and then hematological spread with predilection to the anterior horn cells of the spinal cord or brainstem with flaccid paralysis in spinal or bulbar distribution 4 forms Inapparent infection Abortive – nauseas, vomiting and abdominal pain Nonparalytic – above plus meningeal irritation Paralytic – paralysis and wasting; bulbar or spinal distribution Occasionally, can get postpolimyelitis syndrome which results in weakness or fatigue in the initially involved muscle groups 20-40 years later Ix Viral c/s from stool, throat and CSF Antibodies Mx Educationa and counselling Non-medical PT/OT Care of limbs Medical Rx complications Pain Respiratory failure Clear bowels Prevention Inactivated polio vaccine – Salk vaccine which is administered parenterally Oral live vaccine – can result in poliomyelitis in immunodeficient individuals Dy/Dx Spina bifida Infantile hemiplegia – hypoplasia of the entire side of the left side with UMN sign on the affected side

121

What is Spina Bifida? Incomplete closure of the bony vertebral canal with similar anomaly of the spinal cord Usually in lumbosacral region, can also involve the cervical region and is associated with hydrocephalus Look for Scars, tuft of hair, dimples, sinus, naevus, lipoma Asymmetric LMN signs of LLs L5 and S1 dermatomal sensory loss Bladder involvement X-ray: sacral dysgenesis, laminar fusion of the vertebral body. Scoliosis Multifactorial aetiologies, with folic deficiency and use of Na Valproate, siblings with spina bifida has higher risk Prevented with use of folic acid early in pregnancy Can be tested with amniotic serum AFP, serum AFP or USS What is cauda equina syndrome? th The cauda equina refers to the nerve roots that are caudal to the termination of the spinal cord; any lesion below the 10 Thoracic vertebrae Low back pain, unilateral or bilateral sciatica, saddle anaesthesia, bladder and bowel disturbances and variable motor and sensory LL abnormalities Causes – trauma, PID, spondylosis, abscess, tumor (ependymoma and NF) Anatomy Spinal cord starts from the foramen magnum to the level of L1 vertebrae Add 1 to Cx vertebrae Add 2 to Tx vertebrae 1-6 Add 3 for Tx vertebrae 7-9 T10 and T11 vertebrae = lumbar segments T12 and L1 = sacral and coccygeal Conus medullaris = T9 to L1 vertebrae Conus Medullaris Cauda equina Presentation Acute Chronic Reflexes Knees preserved; ankle absent Both knees and ankles absent Motor Spastic para; symmetrical Flaccid para; asymmetrical Sensory More LBP, less radicular Less LBP, more radicular Sensory Perianal Saddle Impotence Frequent Less frequently Sphincter Occurs early Occurs late What is Guillain Barre Syndrome? Auto immune, antecedent Campylobacter infection Bimodal – young adults or the elderly Motor, sensory and autonomic dysfunction Progressive ascending muscle weakness, variable patchy sensory loss, hyporeflexia and autonomic disturbances such as tachycardia and labile BP Post GI or resp infection, 2-4 weeks of onset of symptoms which may progress over hrs to days and recovery over months; complicated by respiratory failure Subtypes Acute inflammatory demyelinating neuropathy Acute motor axonal neuropathy Acute motor-sensory axonal neuropathy Miller Fisher Syndrome (Ataxia, areflexia and ophthalmoplegia; antiGQ1b Ab) Acute panautonomic neuropathy Ix CSF shows albuminocytologic dissociation (70%) and transcranial doppler Young patient – young stroke work up (10) o ANA, dsDNA, ESR o Protein C, S o Anti Thrombin III o Factor V leiden or APC resistance o Anticardiolopin IgM/IgG o Homocystine o VDRL What are the limitations of CT brain? Unable to visualise the posterior fossa structures such as the brainstem and the cerebellum Maybe normal up to 6 hours of onset o After 6 hours – hypodense area o Early signs on CT (5) – loss of grey-white differentiation, insular ribbon sign, sulcal asymmetry, hyperdense MCA sign and obscuration of the LN MRI – Diffusion weighted imaging which has a high sensitivity – looked for hyperintense signal How would you manage? Multidisciplinary approach Education and counselling PT/OT and ST – speech and swallowing, caregiver training, prevention of bed sores Medications o Antiplatelets (Aspirin, persantin, Clopidogrel, Ticlid) o Anticoagulation Correct risk factors o Hypertension o Hyperlipidaemia o Diabetes mellitus Surgical o Intracranial bleeds o Hydrocephalus How would you manage the patient acutely? Airway, breathing and circulation Control BP if bleed otherwise allow high BP in ischaemic stroke up to 220/120 Treat fever Control of blood sugar Determine if bleed or ischemic If ischaemic stroke, assess for possibility of reperfusion therapy ie National Institute of Health Stroke Scale (NIHSS) using alteplase ie recombinant tissue plasminogen activator; within 3 hours and important to note inclusion and exclusion criteria. Treat complications o Seizures o Raised intracranial pressure (Hyperventilation, elevate the head, mannitol)

139

60. Gait Assessment “Examine this patient‟s gait” Procedure o Stand and Rhomberg‟s o Walk and turn and return o Heel to toe o Heel walk o Tip toe o Squat Look for the obvious o Ankylosing spondylitis o Chorea o Hemiplegic gait o Antalgic gait Small paces o With stooped posture and paucity of arm swing Parkinsonian o With upright gait, normal armswing March a petit pas Diffuse cerebrovascular disease Feet separation o Broad

o

Cerebellar Unilateral or bilateral + high stepping = Sensory ataxia Peripheral neuropathy or dorsal column loss Crossing over Scissoring gait Spastic – cerebral palsy, MS, cord compression

High stepping with normal feet separation o Unilateral or bilateral footdrop Pelvis rotating o Waddling gait Proximal myopathy or congenital dislocation of the hips Apraxic gait – disjointed o Frontal lobe – CVA, SOL, hydrocephalus Bizarre in consistent = functional gait, Huntington‟s chorea

140

61. Parkinsonism Examination Introduce Mask like facies, monotonous speech, dyskinesias Upper limbs Resting tremors which disappears with use Bradykinesia (thumb to finger, rotate wrist and “twinkle stars” Leadpipe rigidity and cogwheeling Acute dystonia or alien limb syndrome Pronator drift and cerebellar signs Palmomental reflex, grasp reflex Face Eye movements, vertical Doll‟s if vertical gaze impaired Close eyes for blepharospasm Feel for seborrhea Look for KF rings Count 1-20 Unbutton shirt, write, cap a pen, comb his hair Gait – typical parkinsonian gait; also rule out gait apraxia Request Speech if not done Swallowing Handwriting Postural BP AMT Presentation Sir, this elderly gentleman has Parkinsonism with mask like, expressionless facies. He has asymmetrical resting tremor of the right hand with characteristic pill rolling movements of the thumb that disappears with use of the hand. There is also presence of bradykinesia with leadpipe rigidity at the elbows and cogwheeling at the wrist. Movement of the contralateral upper limb accentuates these features. There is presence of seborrhea and Myerson‟s sign or the glabella tap sign is positive. He has difficulty initiating his gait and has a stooped posture associated with shuffling gait with festination and lack of normal arm swing. He also turns in numbers. His gait is not apraxic and he is not on any urinary catheter to suggest NPH. Functionally he is able to walk unaided and can perform keyturning movements and unbutton his short unaided. There is no evidence of dyskinesias which can result as a result of L-dopa therapy. He dose not have features suggesting presence of Parkinson-plus syndrome. There is no evidence of Progressive Supranuclear Palsy such as impairment of the vertical gaze, blepharospasm or frontal lobe signs such as palmomental reflex and the grasp reflex. There are also no cerebellar signs to suggest multisystem atrophy. There is also no evidence of corticobasal ganglia degeneration such as dystonic arm or alien limb syndrome. In summary, this patient has Parkinsonism most likely due to Parkinson‟s disease and relative preservation of his function; there is no evidence of dyskinesia currently to suggest side effects of L-dopa therapy.

141

Questions What is Parkinson‟s disease? It is a progressive neurodegenerative disorder associated with degeneration of the dopaminergic nigrostriatal neurons. Dx clinically th with 2 out of 3 signs comprising of resting tremors (3-5Hz), bradykinesia and rigidity. The 4 sign of postural instability occurs later in the course of the disease. What are the causes of Parkinsonism? 1. Parkinson‟s disease 2. Parkinson-plus syndromes 3. Drugs (Neuroleptics, antiemetics, MPTP- 1 methyl 4 phenyl 1,2,3,6 tetrahydropyridine) 4. Anoxic brain damage ( Post cardiac arrest, Manganese, CO) 5. Post encephalitis ( encephalitis lethargica or von Economo‟s disease) 6. Tumor such as giant frontal meningioma What are the pathologic findings in Parkinson‟s disease? Loss of pigmented dopaminergic neurons in the substantia nigra Presence of Lewy Bodies (eosinophilic cytoplasmic inclusions) What are the Parkinson-plus syndromes? Progressive supranuclear palsy (most common) (frontal lobe) (3) Vertical gaze palsy Downgaze affected first, then upgaze, then horizontal Can be overcome by vertical Doll‟s Other features such as blepharospam and slow pursuit or saccadic eye movements Postural instability and axial rigidity with falls early in the course of the disease Frontal lobe signs Multiple sytem atrophy (Cerebellar) MSA-P = Parkinsonism features MSA-C = Cerebellar features Features (3) Cerebellar signs Autonomic features – orthostatic hypotension, urinary dysfn and erectile dysfn Corticospinal signs – hyperreflexia and extensor plantar response Corticobasalganglionic degeneration (frontoparietal lobe) 2 features Limb apraxia or alien limb syndrome Dystonia Parkinsonism-dementia-ALS complex Diffuse Lewy Body disease (Parkinsonism, dementia and neuropsychiatry) What is the significance of diagnosing Parkinson Plus syndrome? Poorer prognosis Poor response to L-dopa therapy What are the features that suggest that patient may have Parkinson plus syndromes? Early onset of dementia Presence of hallucination or psychosis Early onset of postural instability Truncal symptoms more prominent than appendicular symptoms Marked symmetry of signs early in the stage of the disease Lack of response to levo-dopa therapy in the early stage of the disease Presence of symptoms and signs suggestive of Parkinson-plus syndromes. What are the stages of Parkinson‟s disease? Staged via the Hohen and Yahr staging system comprising of 5 stages: Stage 1 – symptoms and signs unilateral and mild Stage 2 – Bilateral and minimal disability Stage 3 – Generalised dysfunction with sig bradykinesia and gait impairment Stage 4 – Rigid and bradykinesia, severe symptoms with limited walking Stage 5 – Completely invalid and requires nursing care

142

How would you investigate? Brain scan to rule out NPH Multi-infarct syndromes Frontal meningiomas Parkinson-plus syndrome MSA – atrophy of the cerebellum, brainstem PSP – Atrophy and hyperintensity of the midbrain and red nucleus CBGD – Frontoparietal cortical atrophy If patient is young, ie1 hr duration for > 6 weeks Arthritis of 3 or more joints for > 6 weeks Arthritis of wrists, MTCP, PIPJ Symmetric Rh nodules Rh factor Radiographic changes typical changes including erosions or unequivocal decalcification How would you investigate this patient? Blood Ix – Rh factor, anti-CCP, ESR, CRP X-rays of the joints – erosions and periarticular osteopenia How would you manage this patient? Education and counselling Non-pharmacological o OT, PT Pharmacological which will depend on the severity o Analgesia – NASIDS o DMARDS Methotrexate (Check FBC and LFT) Sulphasalazine Hydroxychloroquine Low dose prednisolone Newer agents Leflunomide Tacrolimus Cyclosporine A Rapamune (sirolimus) o Immunomodulators (biologics) Anti TNF – Etarnacept (FDA approved), infliximab, humira Beware of TB and atypical pneumonia resulting from their use Anti CD20 – Rituximab Surgical What is Z thumb deformity? Deformity that occurs in RA hands With hyperextension of the first IPJ and fixed flexion and subluxation of the first MCPJ Resulting squaring appearance of the hands What is Boutonnière‟s deformity? Hyperflexion of the PIPJ and hyperextension of the DIPJ Due to rupture of the central slip of the extensor tendon over the PIPJ with imbalance of the flexion and extension forces of the finger What is swan neck deformity of the fingers? Hyperextension of the PIPJ and hyperflexion of the DIPJ Due to synovitis of the flexor tendons leading to flexion at the MCPJ with constant effort to extend the finger; leading to stretching of the collateral ligaments and the volar plate of the PIPJ; intrinsic muscle balance leads to swan neck deformity What are the differential diagnoses for deforming polyarthropathy of the hands? Rheumatoid arthritis Psoriatic arthritis of the RA type nd th Jaccoud‟s arthropathy which is ulna deviation with subluxation of the 2 to 5 fingers at the MCPJ which is voluntarily correctable; initially described in patient‟s with Rh fever but now used synonymously with SLE deforming arthropathy

145

63. Gouty Hands Examination of the Hands – Sequence Tophi, joint deformity Feel joints for active arthritis Palmar erythema, dupytren‟s contracture (alcohol), finger pulps for tophi Test function – pincer and grip, coarse and fine Look at the extensor surface and elbows (olecranon bursae) Sallow appearance, dialysis (Renal failure) Pinna or helix of the ear Pleithoric, parotidmegaly, bleeding and hypertrophic gums Look at the feet for joints, deformity, active arthritis, diabetic dermopathy Feel the achilles tendon and infrapetallar region Request o Walk patient if feet are involved o BP o Urine dipstick for glycosuria, hematuria (stones) Presentation Sir, this patient has chronic tophaceous gout affecting his hands and his feet. On examination of the hands, there is asymmetrical swelling affecting the small joints of the hands with tophi formation which has resulted in severe deformity of the hands and feet. I also noticed that these tophi are exuding chalky material. On palpation, there is no tenderness and joints are not warm to suggest active arthritis. There is wasting of the intrinsic muscles of the hands. There is also presence of tophi on the extensor aspects of the forearms, the left olecranon bursae, the right helix/pinna of the ear as well as the small joints of the feet. I looked for but did not detect any tophi on the achilles tendon or the infrapetallar region. In terms of function, he is able to perform pincer and handgrip movement and his hand function is relatively preserved; able to perform door knob turning and cap a pen, as well transfer coins and unbutton his shirt. I noticed that the patient is not obese looking, no DM dermopathy or xanthelasma as these are a/w gout. There is also no evidence of chronic ethanol ingestion such as palmar erythema, dupytren‟s contracture and parotidomegaly. There is no sallow appearance to suggest chronic renal failure. I also did not detect any conjunctival pallor or suffusion, hypertrophic or bleeding gums and patient is not pleithoric which may suggest presence of lymphoproliferative disease or polycythaemia. There are no psoriatic skin lesions I would like to complete the examination by walking to patient to assess function as I noticed that his feet is affected by gouty arthritis, take his blood pressure as well as a urinalysis to look for glycosuria as well as hematuria for UA stones and proteinuria for UA nephropathy. A detailed drug history, dietary history and alcohol consumption.

146

Questions What is gout? Gout is a disorder of purine metabolism, resulting in hyperuricaemia either from overproduction(75%) or undersecretion of uric acid, resulting in deposition of urate crystals in the joints or bursae. Patients typically present with acute monoarthritis of the first MTPJ, with pain swelling and exquisite tenderness which peaks within hours and lasts for days. It affects the joints of the lower limbs initially in the majority of patients which includes the MTPJ, ankles and knees. It can also subsequently affects the joints of the upper limb. What are the stages of gout? Acute gouty arthritis Intercritical period Chronic tophaceous gout What does tophi indicate? Severe, recurrent and chronic gout. Where are the commonly areas to look for gouty tophi? Hands, extensor aspect of the forearms, olecranon bursae Helix if the ears Toes, Achilles tendons, infrapetaller regions What are the clinical manifestations of gout? Asymptomatic hyperuricaemia Acute arthritis Chronic, recurrent arthritis Tophaceous gout Uric acid nephrolithiasis Uric acid nephropathy What are the triggering factors of gout? Alcohol ingestion Foods – sweetbreads, liver, kidneys and sardines Drugs – Thiazide diuretics, aspirin, cyclosporine, pyrazinamide and ethambutol Dehydration and fasting Surgery, Trauma What are the causes of gout? Primary – associated with obesity, diabetes mellitus, hypertension and high TGs Secondary o Drugs o Chronic ethanol ingestion o Chronic renal failure o Polycythaemia, lymphoproliferative, myeloproliferative o Psoriasis How would you investigate? Definitive investigation would be aspiration of the involved joint, looking for intracellular deposition of needle-shaped crystals that is negatively birefringent under polarised light, within leukocytes. They react with nitric acid and NH4OH to give a purple color (Murexide test) Blood Ix – Uric acid levels which may be normal during an acute attack X-ray of the joints may show erosive arthropathy from tophi with overhanging edges associated with punctuate to diffuse calcification. How would you manage? Education and counselling, including dietary advice and avoidance of alcohol PT/OT if tophaceous gout for preservation of function Manage associated hypertension and diabetes mellitus Medications – acute attack and prophylaxis Surgery – rarely for cosmetic reasons, arthroplasty

147

How would you treat an acute attack? NSAIDS – Indomethacin (50mg tds) Colchicine 2 ways: o 0.5mg hrly till GI side effects or max of 5 mg, or o 0.5mg tds Intrarticular steroids (triamcinolone 20mg) Systemic steroids (Prednisolone 30mg OM and tails over 7-10 days) How would you prophylax against gouty attacks? Prophylactic agents used are iniated under colchicine cover which includes: Xanthine oxidase inhibitor o Allopurinol o New agents – Uricase, febuxostat Uricosuric acid agents o probenecid or sulfinpyrazone o losartan o fenofibrate What are the indications for allopurinol? Recurrent gouty attacks > 3 times a year Chronic tophaceous gout Uric acid nephropathy Persistently high uric acid level Conditions that may predispose an individual to gouty attacks, prior to chemotherapy or radiotherapy which may induce tumor lysis What are the side effects of allopurinol? Side effects occur in 3-5% Rash, diarrhea, drug fever Leucopenia, thrombocytopenia Allopurinol hypersensitivity syndrome o Erythematous rash, fever, hepatitis, hypereosinophilia and renal o failure What are the other crystal arthropathy that you know about? Pseudogout – Acute arthritis resulting from deposition of calcium pyrophosphate dihydrate crystals in the joints which are rhomboid shaped positively birefringent crystals under polarised light. Calcium hydroxyapatite crystals deposition in the large joints such as knees and shoulders, affecting the elderly. What are the differential diagnoses? Septic arthritis Overlying cellulitis Trauma What is your differential diagnosis for chronic tophaceous gout? Florid tendon xanthomata Yellow and not chalky Adherent to tendon and not joint Does not involve the bursae, ie no olecranon or pinna lesions No active arthritis

148

64. Psoriasis – Locomotor (10% of Psoriasis with Joint involvement) Presentation Sir, this patient has psoriatic arthropathy affecting the hands of the 1. Arthritis mutilans type (bilateral deforming arthropathy, telescoping of the digits) 2. RA type (symmetrical joint involvement) 3. OA type (asymmetrical terminal joint involvement) 4. mono/oligoarticular type 5. AS type (Sacroilitis, but the syndesmophytes arise from the lateral and anterior surface and not at the margins unlike AS) With 1. 2. 3. 4. 5. 6.

Bilateral deforming polyarthropathy, and joint deformities, tender (activity) sausage shaped fingers, tenosynovitis wasting dorsal guttering and wasting of the thenar and hypothenar eminence nails – pitting, onycholysis, subungal hyperkeratosis, discoloration of the nails (80% involvement with arthropathy) Skin patches – well circumscribed plagues on the extensor surfaces of the elbows and scalp, with salmon pink hue and silvery scales surgical scars

Joint function 1. Impaired or preserved 2. able to grip and do pincer movement 3. coarse function – turn a doorknob 4. fine function – cap a pen, transfer coins, unbutton clothes 5. able to abduct and internally rotate her shoulder joints which are important for her ADLS Treatment complications – Steroids for arthritis Mention no evidence of Gout (as this is associated with Psoriasis) Complete my examination by examining for other joint involvement Skin – especially scalp, knees, natal cleft, intragluteal folds, submammary folds, Koebner‟s phenomenon Enquire on aggravating factors Questions What are the types of skin lesions? Plague Guttate (numerous small papular, hx of streptococcal infection Pustular (localized or generalized, superficial pustules may stud the plagues) Erythrodermic (generalized erythema and scaling which may be life threatening) Inverse psoriasis (plagues evolving in the intertriginous area without typical silvery scales due to moisture and maceration) Where are the typical sites of distribution? Extensor surfaces of knees, elbows, scalp, navel, natal cleft, submammary and intragluteal folds How do you assess severity? Psoriasis Area and Severity Index – area, thickness, redness and scaling Total score 72 - 50 for mild, moderate and severe respectively What are the types of joint involvement in psoriasis? OA RA AS Oligo/mono Arthritis mutilans Radiological features of psoriatic arthritis? Periostitis – “fluffy” Destruction of small joints “Pencil in cup appearance” Non –marginal syndesmophytes in AS type What are the unique characteristics of psoriatic lesions? Salmon pink hue with silvery scales Koebner‟s - New psoriatic skin lesions at site of cutaneous trauma Moist red surface on removing of scales (Bulkeley‟s membrane) Auspitz‟s sign – capillary bleeding when silver scales are picked from the plague

149

What is Koebner‟s phenomenon and which other conditions is it seen? New skin lesions at the site of cutaneous trauma Occurs in 30% of patients with psoriasis, usually occurring 10-20 days postTrauma, ranges from 3 to 2 years Also occurs in eczema, lichen planus, vitiligo and lichen sclerosus et atrophicus What is the pathology? Hyperproliferation of the epidermis with inflammation of the dermis and epidermis. What are the differential diagnoses for onycholysis? Psoriasis Fungal infection Thyrotoxicosis (Plummer‟s nails) Lichen Planus What are the aggravating factors? Emotional stress Alcohol Drugs – beta blockers, ACE inhibitors, Indocid, Lithium & antimalarials Streptococcal infection (classically associated with guttate psoriasis) Injury to the skin – mechanical injury and sunburn What are the principles of management? Education Avoidance of aggravating factors Topical – WSP, salicyclic, aqueous cream Topical – Topical steroids, coal tar, Dithranol, Calcipotriol (Vit D3 which acts to increase keratinocytes differentiation as a result of increased extracellular calcium therefore decreased cellular proliferation and scaling), topical retinoids Systemic – UVB, MTX, Retinoids, systemic steroids, cyclo, tacrolimus and MMF Novel – immunodulators (infliximab, etarnacept) What is the prognosis? Deforming and erosive in 40% 10% are disabled by the arthropathy What other joint pathology can patients have especially if disease is active? Gout – because of hyperproliferation Others 30% have family history Psoriasiform lesions on the fingers, toes, nose and ears – exclude SCC of the Oropharynx, tracheobronchial tree and esophagus – Bazex syndrome.

150

65. Osteoarthritis of the Hands Examination Herbeden‟s nodes and Bouchard‟s nodes, squaring of the thumb Presence of active arthritis No muscle wasting Tinel‟s sign Function o ROM o Coarse fn o Fine fn Establish cause o Primary o Secondary to Acromegaly, Hemochromatosis Request o Examine other joints Knee – varus/valgus deformity, crepitus, wasting of the quadriceps Hips Cervical spondylosis, Lumbar spondylosis Gait (Trendenlenberg‟s sign – downward tilting of the pelvis on the affected side) Presentation Sir, this middle-age lady has OA of the hands as evidenced by presence of Herbeden‟s nodes which are bony swelling affecting the DIPJ. I did not detect any Bouchard‟s nodes but there is presence of squaring of both hands as a result of subluxation of the first MC. There is no significant muscle wasting with preservation of function. ROM was good and patient is able to perform coarse fn such as turning a door knob and fine motor fn such as transferring coins. Tinel‟s sign is negative. I would like to complete the examination by examining other joints for OA in particular Knees Hips Gait for Trendelenberg‟s sign Cx and Lx spondylosis There are no features of acromegaly or hemochromatosis. I would like to offer the dx of Nodal OA or primary generalized OA with OA of the hands occurring in this middle aged lady.

151

Questions What are Herbeden‟s nodes? Bony swellings at the DIPJ in OA What are Bouchard‟s nodes? Bony swelling at the PIPJ in OA Why is there squaring of the hand? This is due to subluxation of the first MC What are the types of OA? Primary generalized OA aka nodal OA Middle-aged women, Autosomal dominant OA of the DIPJ with Herbeden‟s with marked deformity and preservation of fn Also affects the carpometacarpal joint of the thumb, knees and hips Secondary Trauma Inflammatory arthropathies – RA, Septic arthritis, gout Endocrine – Acromegaly, hyperparathyroidism Metabolic – chondrocalcinosis, hemochromatosis Neuropathic joints – DM, Tabes, syringomyelia How would you Ix? Radiographical Subchondral bone cysts and sclerosis osteophytes narrowed joint space Varus/varus deformity If a synovial aspirate is done to r/o other causes 1) Presentation Sir, this patient has Marfan‟s syndrome as evidenced by tall stature with disproportinately long limbs (also known as dolichostenomilia). He has got arachnodactyly with hyperextensible joints with positive thumb sign (Steinberg), wrist sign (Walker), hyperextension of the elbows and genu recurvatum and pes planus. There is presence of dolicocephaly, with iridodenesis, blue sclera and is myopic. He has a high arched palate. I did not detect any Meisher‟s elastoma (small papules of the skin of the neck). There is also kyphoscoliosis with pectus excavatum. Of note there are chest wall scars suggestive of previous chest tube insertions. There is no obvious inguinal or femoral hernia, scars or striae atrophicae. There is no collapsing pulse. I did not detect any evidence of malar rash or calve swelling suggestive of a DVT which are features of homocystinuria. There is also no neck scars, mucosal neuromas or hyperpigmentation to suggest MEN type 2B as these patients have a marfanoid habitus. There is also no gynaecomastia or eunuchoid habitus to suggest Klinfelter‟s syndrome (say this if patient is a man). I would like to complete my examination by measuring his arm span to height ratio as well as his sole-pubis to pubis-vertex ratio; in addition I would like to perform a cardiovascular examination to look for MVP, AR; a respiratory examination for plurodesis, as well as lower limb examination for weakness or numbness secondary to dural ectasia.

157

Questions What are the differential diagnoses for a patient who has a tall stature? Marfan‟s syndrome Homocystinuria Malar flush, mental retardation, inferomedial ectopia lentis Hx of epilepsy, IHD(CABG scar), DVT, osteoporosis Presence of homocystine in the urine via cyanide-nitroprusside test Autosomal recessive inborn error of metabolism of amino acid with deficiency of cystathionine beta synthetase MEN type 2b Hyperpigmentation, mucosal neuromas(lips, tongue, palate, conjunctiva and cornea), proximal myopathy MEN 1: Pituitary, parathyroid, pancreatic (PPP) MEN 2a: Parathyroid, adrenals(phaechromocytoma), thyroid (MTC) (PAT) MEN 2b: PAT and hyperpigmentation, mucosal neuromas, marfanoid Klinefelter‟s syndrome Male patient, eunuchoid habitus (arm span> height, sole-pubis>pubis vertex, femenine fat distribution Gynaecomastia, lack of beard and axillary hair, voice is not masculine, pea-sized testes (normal >3.5cm), varicose veins Mentally subnormally, infertile Rule out hypo-osmia for Kallman‟s syndrome (idiopathic hypogonadotrpic hypogonadism with hypo-osmia, cleft palate/lip, congenital deafness or blindness which can be treated with gonadotropins and GnRH for fertility) Raised FSH and estradiol with low testosterone and chromosomal analysis 47XXY(buccal smear for karyotyping) Infertile as majority are 47XXY (80%) and others can be due to more than 2 X or > 1Y or mosaicism (can be fertile) Most common cause of male hypogonadism, 1:500 Increased risk of DM, Br cancer and SLE Increases with increasing maternal or paternal age What is Marfan‟s syndrome? It is an inherited autosomal dominant connective tissue disorder Affecting the skeletal system, cardiovascular system with ocular abnormalities 1 in 15 000 Male=Female What is the mode of transmission of Marfan‟s syndrome? Autosomal dominant Chromosome 15q21 Defects in fibrillin gene How is Marfan‟s syndrome diagnosed? Based on the Ghent criteria which takes into account o Family history o Molecular studies o 6 organ systems Skeletal Skin Eye CVS Pulmonary Dura (dura ectasia) What are the ocular features of Marfan‟s syndrome? Small spherical lens Cataracts Lens subluxation Glaucoma Hypoplasia of dilator pupillae, therfore difficulty with pupillary dilatation Flat cornea Myopia Retinal detachment Increased axial length of the globe How would you investigate? Molecular studies Annual echocardiography Monitor aortic diameter (normal 50mm) MV function Ophthalmic examination How would you manage? Education and psychological counselling Annual cardio review Beta-blockade (retards rate of aortic root dilatation) Aortic root graft >50mm IE prophylaxis Eye review 158

What is the prognosis? Death due to cardiovascular complications Aortic dissection CCF secondary to AR Life span is about mid forties What are the complications of pregnancy in Marfan‟s syndrome? Early premature abortion Death from aortic dissection (safe if aortic root Joint laxity What are the causes for hypermobile joints? Benign Joint Hypermobility Syndrome (Majority) Ehlers Danlos Syndrome Marfan‟s syndrome Osteogenesis Imperfecta What are the causes of blue sclera? Marfan‟s syndrome Ehlers Danlos Syndrome Osteogenesis Imperfecta Pseudoxanthoma elasticum Chronic steroid intake

159

69. Dupytren‟s Contractures Typically o elderly males o pitting and thickening of the palmar skin progressing to a firm, painless nodule fixed to the skin and fascia, with subsequent cord involvement th th o involving bilateral 4 and 5 fingers resulting in fixed flexion of the MCPJ and PIPJ o Garrod‟s knuckle pads Check function Feet (plantar fibromatosis), Peyronie‟s disease (penile shaft) and retroperotineal fibrosis Establish etiology o Primary AD Young males o Secondary/ associations Chronic ethanol ingestion – parotidomegaly, hepatomegaly, CLD Antiepileptics – gum hypertrophy, nystagmus DM especially insulin dependent Hyperlipdaemia (xanthelesma) Smoking (nicotine staining of the fingers) Manual labor and hand trauma Fibroproliferative disorder Mx o Most do not require o Annual follow up for contracture developing o Intralesional injection of collagenase or interferon gamma o Surgical correction (if >30 contractures of MCPJ or any degree of contracture of PIPJ) 70. Clubbed Fingers Rule out o Pseudoclubbing of scleroderma and clubbing of thyroid acropachy o Grade 1 – Fluctuation of the nail bed (sponginess) 2 – Scaramoth‟s sign (obliteration of the diamond when dorsal surfaces of the terminal phalanges are opposed together), loss of Lovibond‟s angle 3 – Drumstick appearance ie enlarged finger tips 4 – associated with hypertrophic pulmonary osteoarthropathy of wrist and ankle (subperiosteal reaction and new bone formation) o Causes Lung Abscess, bronchiectasis Pulmonary fibrosis Ca lung CVM Cyanotic congenital heart disease Eisenmenger‟s syndrome Infective endocarditis Abdomen Cirrhosis Inflammatory bowel disease Coeliac‟s disease Thyroid Familial Idiopathic o Unilateral causes AVM of the Lung Axillary artery aneurysm

160

71. Painful/Swollen Knee Joint Examine the joint o Look, feel, move approach, disuse atrophy o Gait o Make sure it‟s not Charcot‟s joint (see Charcot‟s joints) o Examine other joints and proceed to exclude causes OA RA – palindromic type (acute recurrent arthritis, affecting one joint) Seronegative spondyloarthropathy (4) Crystal arthropathy – gout, pseudogout or chondrocalcinosis Septic arthritis Haemophilia Trauma Others – Lyme‟s, Rh heart Disease 72. Still‟s disease/Juvenile Chronic Arthritis Cs (Still‟s) – micrognathia, arthropathy of the DIPJ, splenomegaly, LNs, Hx maculopapular rash Dx of JCA o 6 weeks of arthritis with no other cause, > 6 months evolve Still‟s disease – arthritis with daily temperature spikes Polyarticular (>5 joints) with early fusion of cervical and mandibular joints Pauciarticular (4 or less) – iritis in girls and sacroilitis in boys Joint involvement with RF and ANA negative Systemic symptoms of lethargy, anaemia, growth disturbance, amyloidosis Rx o Education, counseling andsupport o PT/OT o Analgesia, intra-articular steroids, MTX, hydroxychloroquine 73. Enteropathic Arthropathy 2 types o Peripheral arthropathies Non-erosive, migratory and reversible of the large joints (knees, ankles and elbows), occasionally MCPJ and PIPJ of the hands Parallels disease activity and improves when bowel disease improves o Axial arthropathies Similar to AS (X-ray are similar) Independent of bowel disease activity Look for abdominal scar, erythema nodosum

161

74. Old rickets Consider this diagnosis o Paget‟s (see Pagets‟) o Short stature Achondroplasia (AD, short stature, prominent forehead, saddle nose, short limbs with no bowing, exaggerated lumbar lordosis, normal trunk, occ spinal cord compression) with normal sexual and mental fuction and life span Noonan‟s syndrome (AD) Short stature, facial abnormalities(hypertelorism, triangular facies, webbed neck, ptosis, down-slanting eyes), pectus excavatum or carinatum, hyperextensible joints Cardio – PS, ASD, VSD Mental retardation Impaired blood clotting Turner‟s syndrome 45XO In females only th Cs – short stature, shield chest, short 4 MC/MT, cubitus valgus, webbed neck, absent breast development with normal pubic hair, cutis laxa(excessive skin), hypoplastic/hyperconcex nails, naevi CVM – coarctation of aorta, biscupid aortic valve, aortic dissection Hypothyroid Ovarian failure with high FSH and LH Cs of Ricket‟s o Bilateral o Symmetrical o Bowing (lateral curvature of the tibia and femur, radius and ulna) o Short stature o No increased warmth o Frontal bossing and parietal flattening o Rickety rosary (thickening of costochondral junction), Harrison‟s groove (indentation of the lower ribs at the diaphragmatic attachment) Causes of rickets or osteomalacia o Decreased Vit D – sun exposure, malnutrition o Malabsorption – gastrectomy, coeliac‟s, pancrease o Abnormal metabolism – CRF, liver dz, RTA, anticonvulsants o Others Familial hypophosphataemia Vit D resistant rickets Rickets occurs before closure of epiphyses compared to osteomalacia o Osteomalacia with bone pain, prox weakness with pseudofractures or looser‟s zones in the ribs, pelvis and clavicles/scapula Raised ALP, low Ca, high PTH and low Vit D

162

ENDOCRINE! 75. Acromegaly Stem Statement Please examine hands, face, look and proceed. Patient has headaches, increased sweatiness Approach 1. Hands a. Palm downwards – large, doughy, spade shaped, OA, double pinch test b. Palm upwards – sweatiness, CTS, wasting of thenar eminence, numbness 2. Elbows – ulnar nerve thickening 3. Proximal myopathy 4. Face – Transfrontal scar, prominent supraorbital ridges, greasy skin, broad nose, hirsute, thickened lips, macroglossia, teeth indentation marks on the side of the tongue, prognathism, splaying of teeth, malocclusion of teeth 5. Neck – Goitre 6. Lower limb – bowed legs, OA, pitting edema from CCF/CCB, heelpad thickened 7. Request for patient to remove shirt to inspect the trunk and axillae a. Skin tags b. Coarse body hair c. Acanthosis nigricans d. Gynaecomastia, galactorrhoea e. Kyphosis 8. Request a. Visual fields – bitemporal hemianopia, fundoscopy for angiod streaks b. CVS – cardiomegaly c. Abdomen – organomegaly, testicular atrophy, PR bleed for Ca colon d. BP - Hypertension e. Urine dipstick – glycosuria Presentation Sir, this patient has acromegaly as evidenced by presence of coarse facial features with prominent supraorbital ridges, broad nose and thick lips; a/w macroglossia with teeth indentation marks on the side of the tongue. There is also presence of splaying of the teeth with malocclusion and prognathism. I did not notice any scars on the forehead to suggest previous Transfrontal surgery. There is also no goitre There is presence of a large, spade like doughy hands with no sweating detected. There is no wasting of the thenar eminence and Tinel‟s sign was negative. There are also no thickened ulna nerves at the elbows and no proximal myopathy. No features of OA of the hands and no bowing of the tibia. No pedal edema but presence of thickened heelpads. I would like to complete the examination by 1. Asking the patient to remove his shirt to look for Acanthosis nigricans, coarse body hair, skin tags, kyphosis and gynaecomastia/galactorrhea 2. Visual fields for bitemporal hemianopia 3. CVS – cardiomegaly 4. Abdomen exam for organomegaly 5. BP 6. Screen for DM 7. Ask for symptoms of headache, increase sweatiness and recent increase in shoe or glove size. Questions 1. What is acromegaly? a. Due to excess GH activity as a result of a pituitary macroadenoma occurring post puberty 2.

What are the indicators of activity? a. Skin tags b. Increased sweatiness, headache c. Increased size of goitre/visual field loss/size of hands/Shoe size d. Hypertension e. Glycosuria

3.

What are angiod streaks? a. Degeneration and fibrosis of Bruch‟s membrane

4.

List causes of macroglossia. a. Acromegaly b. Hypothyroidism c. Amyloidosis d. Down syndrome e. Haematological malignancy

5.

What is the pathology of acromegaly? a. Pituitary macrodenoma

163

6.

What are the complications? a. Metabolic and endocrine i. Diabetes mellitus in 20% of patients ii. Hypertriglyceridemia in 40% of patients b. Cardiovascular i. Hypertension ii. Cardiomyopathy and CCF c. Respiratory i. Acute dyspnea and stridor (upper airway narrowing) ii. Obstructive sleep apnea d. Abdomen i. Colonic polyps and malignancies (ie, colon cancer) ii. Organomegaly, testicular atrophy e. Neuromuscular i. Proximal myopathy ii. Nerve root compression – CTS, radiculopathy iii. Spinal stenosis f. Calcium and bone metabolism i. Hypercalciuria ii. Hyperphosphatemia iii. Urolithiasis

7.

How do you investigate? a. Confirm the diagnosis by OGTT to look for non supressibility of GH (2ng/ml), can also screen for DM b. Other useful blood Ix i. IGF-1 – as a baseline and monitoring disease activity and treatment ii. Prolactin levels as 20% are associated with hyperprolactinaemia 1. low in hypopit 2. High because 1. Co-secretion 2. compression of pit stalk with interference of dopaminergic suppression of prolactin production iii. Pituitary function (SST, TFT, FSH/LH/Testos/Oestradiol) iv. Calcium levels – MEN type 1 syndrome c. Imaging (after diagnosis is confirmed) i. MRI of the pituitary fossa – macroadenoma ii. X-rays 1. Skull – Enlarged sella turcica, enlarged frontal, ethmoid and mastoid sinuses, thickened calvarium, enlarged mandible 2. CXR – cardiomegaly 3. Hand and feet X-rays – terminal phalangeal tufting and thickened heel pad (>23mm thick on a lateral Xray) d. Others i. Formal perimetry ii. Obtain old photos iii. ECG - LVH

8.

How would you manage? a. The definitive therapy is surgical which can be via transphenoidal or the transfrontal approach b. Radiation therapy if pt is not a suitable candidate c. Medical therapy i. Bromocriptine – dopamine agonist (PO) ii. Octreotide or long acting type (SC, daily vs monthly) iii. GH receptor antagonist – pegvisomant which is a recombinant DNA analogue (SC daily)

9.

What are the conditions with excess GH besides acromegaly? a. MEN type 1 (PPP) b. McCune Albright syndrome – Polyostotic fibrous dysplasia, sexual precocity and café-au-lait spots c. Carney Complex – multicentric tumors in multiple organs, pigmented skin lesions and pigmented nodular hyperplasia (aut dominant)

164

76. Cushing‟s Syndrome Examination Exposure – remove shirt Seated Face Round or moon facies Plethora Telangiectasia Cataracts, anaemia Oral thrush, buccal pigmentation Hirsutism Acne Neck Supraclavicular fat pads Dorsal hump or buffalo hump (interscapular fat pad) Upper limbs Hands clubbing, nicotine staining, hyperpigmentation RA, SLE Bruising Papery thin skin (use 2 index fingers in a circular fashion) Peripheral wasting of Uls Proximal myopathy Acanthosis nigricans Abdomen Truncal obesity Purple striae Lower Limb Edema Bruising Stand the patient up Look for kyphoscoliosis Palpate/percuss for tenderness (osteoporosis and vertebral collapse) Ask the patient to squat and then stand up Request BP Urine dipstick Examine the lungs for asthma and pulmonary fibrosis Visual field assessment although majority of pituitary adenoma are microadenoma Panhypopituirism MEN type 1 Presentation Sir, this patient has got Cushing‟s syndrome. There is presence of moon-facies with facial plethora and telengiectasia. There is presence of hirsutism, acne, oral thrush and cataracts or conjunctival pallor. This is associated with supraclavicular as well as interscapular fat pad deposition. There is truncal obesity associated with purple striae. There is bruising of the skin and the skin is papery thin skin with proximal myopathy and lower limb edema. There is no evidence of acanthosis nigricans. There is kyphoscoliosis with tenderness of the spine. There was no clinical evidence of RA such as symmetrical deforming polyarthropathy or SLE. I would like to complete the examination by Respiratory examination for evidence of asthma or pulmonary fibrosis BP DM Ask history of exogenous steroid intake Virilisation – deepening of voice, breast atrophy, clitoromegaly

165

Questions What are the causes of Cushing‟s syndrome? Rule of 90:10 90% exogenous and 10% endogenous of the 10% endogenous 90% ACTH dependent and 10% ACTH-independent (adrenal adenoma and carcinoma) of the 90% ACTH dependent 90% are Pituitary(Cushing‟s disease) and 10% are ectopic ACTH (bronchial carcinoid, small cell lung ca, pancreatic carcinoma, non-teratomatous ovarian tumor) of the Pituitary adenoma 90% are microadenoma 10% are macroadenoma ACTH independent Adrenal adenoma Adrenal carcinoma Micro/macronodular adrenal hyperplasia Part of Carney complex (pigmented skin lesions with endocrine and mesenchytmal tumors) McCune Albright syndrome What are the causes of PseudoCushing‟s? DOA Depressions, drugs OCPs, obesity Alcoholism, acute illness What are purple striae? Purple striae are due to the weakening and disruption of the collagen fibres of the dermis leading to exposure of the underlying vascular tissue. They can be found on the abdomen, the upper arms and on the medial aspects of the thighs. What are the signs suggesting ectopic ACTH secretion? Absence of Cushingoid habitus, prominent edema and hypertension and marked muscle weakness. What are the features that suggest adrenal carcinoma? Virilisation in the female, gynaecomastia in a male and a palpable abdominal mass. What is the significance of hyperpigmentation in a Cushingoid patient? It implies that Cushing‟s syndrome is due to ACTH excess due to presence of MSH like activity of the ACTH molecule. What is Nelson‟s syndrome? Nelson syndrome occurred formerly as a result of bilateral adrenalectomy for Cushing‟s disease Resulting in absent negative feedback of cortisol on the pituitary adenoma, with expansion of the pituitary adenoma with headache, bitemporal hemianopia and panhypopit eventually Occurs in 20% of such patients in the past Hyperpigmentation occurs due to melanocyte stimulating component of the precursor molecule of ACTH. How would you investigate this patient? Screen with 24H urinary cortisol or overnight dexamethasone suppression test 1mg between 11pm to 12 midnight Serum Cortisol at 8 am the following morning (>2mcg/dl) Confirm diagnosis with a low dose dexamethasone suppression test Determine the cause with Plasma ACTH High dose dexamethasone suppression test Imaging studies (MRI pituitary or CT adrenals) Others CXR – if ectopic ACTH suspected AXR – for adrenal calcification CRH test (distinguish ectopic CRH vs Cushing‟s disease) Inferior petrosal sinus sampling (distinguish primary and ectopic source of ACTH when above tests are inconclusive)

166

How would you manage this patient? Treatment is directed at the primary cause of the syndrome: Exdogenous steroids Withdrawal if possible If not possible Monitor for complications and treat them BP DM PUD Osteoporosis Endogenous ACTH dependent Cushing‟s disease Transphenoidal hypophysectomy Transfrontal hypophysectomy Pituitary irradiation Bilateral adrenalectomy with pituitary irradiation Ectopic ACTH Locate the source and treat appropriately If unable to, adrenalectomy or medical therapy ACTH independent Adenoma/carcinoma – unilateral adrenalectomy Hyperplasia – bilateral adrenalectomy Medical therapy only used if surgical not possible, eg metastatic adrenal carcinoma or ectopic ACTH; can use mitotane, ketoconazole, metyrapone, aminogluthithemde, trilostane and etomidate.

167

77. Goitre Examination Look and proceed, Look at the eyes/face (Grave‟s ophthalmopathy) Examine hands (thyroid signs) Examine lower limbs (pretibial myxoedema) Examine her neck (start from neck) Assess her thyroid status (start from peripheries) General inspection – thin, fidgety and may have choreoathetoid movements ULs o Both ULs up with dorsum facing upwards Tremors Acropachy (thyroid clubbing) Onycholysis (Plummer‟s nails – especially ring finger) Skin for vitiligo o Both ULs with palm facing upwards Sweaty palms Palmar erythema o Proximal weakness o Pemberton‟s sign o Measure pulse for ST or AF o Reflexes Eyes o Look Chemosis, keratitis, prominent caruncle and tarsorrhaphy Lid erythema and periorbital edema Exomphthalmos and lid retraction (Dalrymple‟s sign) o Move Lid lag (von Graefe‟s sign) Ophthalmoplegia Order of muscles affected “I‟M So Lazy” o Inferior, medial, superior and lateral recti Neck o Goitre – swallow water o Look for scar (think of hypothyroid and hypoparathyroid) and distended neck veins o Walk to the patient‟s back Observe for proptosis Palpate the goitre (soft, smooth vs nodular, large, tender) Palpate for Cx LNs, carotid pulsations o Listen for bruit o Palpate for tracheal deviation and SCM weakness on MNGs o Percussion of sternum LL o Pretibial myxedema Complete examination o Reflexes for hyperreflexia o Cardiovascular examination Wide pulse pressure (if clinically hyperthyroid) and systolic hypertension ESM,CCF Gynaecomastia o If there is a scar, request to perform Trousseau‟s sign and Chvostek‟s sign for hypoparathyroidism, assessment for hoarseness of voice o Abdominal examination may reveal hepatosplenomegaly in Grave‟s disease

168

Presentation Grave‟s disease Sir, this patient has got Grave‟s disease and is clinically hyperthyroid complicated by Grave‟s ophthalmopathy. There is presence of a diffusely enlarged, smooth and firm goitre which is associated with a bruit and is non-tender. There are no palpable LNs and tracheal is central with no dullness to percussion of the sternum. Pemberton‟s sign is negative. There is evidence of hyperthyroidism. Patient is thin looking and is anxious and fidgety with presence of fine tremors of the outstretched hands, sweaty palms, with palmar erythema and a resting sinus tachycardia. I did not notice any thyroid acropachy or onycholysis. There is also no evidence of proximal upper limb weakness. Examination of the eyes reveals presence of lid retraction with a staring appearance. There is no chemosis, keratitis or evidence of tarsorraphy. There is evidence of exomphthalmos and proptosis. There is no ophthalmoplegia. There is no evidence of pretibial myxedema. Multinodular Goitre Sir, this patient has MNG and is hyperthyroid complicated by atrial fibrillation. There is presence of an enlarged goitre with multiple nodules bilaterally with a dominant nodule in the right lobe of the thyroid gland. This is non tender. There is no associated Cx LN and the carotid artery is palpable. There are no signs of compression such as stridor, negative Pemberton‟s sign with no dullness to percussion of the sternum. There are signs of hyperthyroidism. The patient is in atrial fibrillation; did not notice any easy brusibility or obvious hemiplegia Questions What is Grave‟s disease? Autoimmune disease TSI binds to and stimulates the TSH receptor on the thyroid cell membrane Resulting in excessive synthesis and secretion of thyroid hormone nd th 2% in women and 0,2% in men; 2 to 4 decades What are the clinical signs specific to Grave‟s disease? Grave‟s ophthalmopathy Pretibial myxedema Thyroid acropachy Diffuse goitre Lymphoid hyperplasia What is Grave‟s Ophthalmopathy? Characterised by edema and inflammation of the extraocular muscles increase in orbital connective tissue and fat edema is due to hydrophilic action of the glycosaminoglycans secreted by fibroblast inflammation is due to infiltration by lymphocytes and macrophages Worst in Smokers, elderly males Post radio-iodine treatment Severe hyperthyroidism Can occur pre, during or post diagnosis of hyperthyroidism How do you assess activity of the eye disease? Retrobulbar pain Pain on eye movement Eyelid erythema Conjunctival injection Chemosis Swelling of the caruncle Eyelid edema Points system together with degree of proptosis (Hertel‟s ophthalmometer), reduced VA and eye movements

169

What is pretibial myxedema? Specific feature of Grave‟s disease Types o Lymphedema type Symmetrical, well defined, waxy and shiny peau d‟orange appearance Red but not inflamed, swollen but not edematous o Nodular type o Plague type Occurs on the shins, anterior lateral aspects Can also occur as localised dermopathy at sites of trauma Characterise by edema, accumulation of glycosaminoglycans and lymphocytic infiltrates Usually after treatment of hyperthyroidism, especially after radioactive iodine What are the signs of hyperthyroidism? Resting tachycardia (important) Sweaty palms Tremors Hyperreflexia Thyroid bruit What are the causes of hyperthyroidism? Primary Grave‟s disease Toxic MNG (Plummer‟s disease) Toxic adenoma De Quervain‟s thyroiditis Post partum thyroiditis (Characteristics: Reduced radionuclide uptake, low T3/T4 ratio and raised Thyroglobulin level) Secondary Pituitary Struma ovarii, hydatidiform mole or choriocarcinoma (ectopic TSH) Exogenous Overtreatment (eg in thyroid cancer) Factitious Drug induced – Lithium, amiodarone (type 1 i.e. iodine induced and type 2 i.e. inflammatory thyroiditis) What are the differential diagnoses of swellings in the neck? Midline o Thyroid gland which rises on swallowing o Thryroglossal cysts which also rises on swallowing but also moves on sticking out the tongue o Submental LNs Lateral o LNs o Salivary Glands o Skin – sebaceous cysts or lipoma o Cystic hygroma o Pharyngeal pouch How would you grade the goitre? WHO grading: Grade 0 : not palpable or visible Grade 1A: palpable goitre Grade 1B : palpable and visible only on neck extension Grade 2: Visible goitre at primary position Grade 3: Obvious goitre from a distance What is Pemberton‟s sign? Elicited by asking the patient to lift his arms above her head Development of plethora, cyanosis, inspiratory stridor and respiratory distress and distension of neck veins Test for thoracic inlet obstruction due to a retrosternal mass How do you differentiate between thyroid acropachy and HPOA? Radiographically o Thyroid acropachy new bone formation has a soap bubbles appearance on the bone surface with coarse spicules o HPOA new bone formation in a linear distribution

170

What are the associated clinical conditions with Grave‟s disease? Diabetes mellitus Vitiligo Pernicious anaemia Addison‟s disease Myasthenia gravis Alopecia areata How would you investigate this patient with Grave‟s disease? Confirm the diagnosis o Thyroid stimulating hormone levels (aka thyrotropin levels) o Free thyroxine levels; KIV serum free tri-iodothyronine o Autoantibodies such as TSH receptor Ab(TRAb), thyroid peroxidase antibodies and thyroglobulin antibodies o Occasionally, to differentiate between Graves and autoimmune thyroiditis, radionuclide scan which shows diffuse uptake in Graves and no/low uptake in autoimmune thyroiditis Ophthalmopathy o CT or MRI orbits to rule out retrobulbar tumor or AVM especially in unilateral exomphthalmos How would you investigate this patient with MNG? Activity assessment – fT4 and TSH Imaging – CT neck to look for obstruction Radionuclide in a predominantly “hot nodule” What is T3 thyrotoxicosis? Hyperthyroid symptoms and sign normal fT4 (thyroxine) level elevated T3 (triiodothyronine). What is “sick euthyroid”? Occurs in patient‟s with severe illness or physical trauma Alterations of peripheral transport and metabolism of thyroid hormones Low fT4 and T3 and inappropriately low TSH

171

How would you manage this patient? (1) Grave‟s disease: Medical therapy o Symptomatic treatment with propranolol o Carbimazole, methimazole and propylthiouracil o All inhibit thyroid peroxidase and hence thyroid hormone synthesis o PTU also inhibit conversion of fT4 to fT3, useful in crisis o CMZ and MTZ useful as fewer tablets and once daily dosing o Treated for 12-18 months and 30-40% will remain euthyroid o If it recurs, likelihood of remission on medications is low o Minor adverse effects (5%) fever, rash, urticaria and arthralgia o Major adverse effects (0.5%) (CMZ and MTZ are dose related and PTU is not) agranulocytosis Advised to stop the drug if develop fever, sorethroat or mouth ulcers Severe hepatotoxicity Vasculitis Lupus-like syndrome Radio-iodine (131-I at dose 5 to 15 mCi) o 90% will become euthyroid within 2 months. o Contraindicated in pregnant and breast-feeding mothers, children and adolescent o Side effects Almost all will become hypothyroid Neck pain Worsened thyrotoxicosis for several days post treatment Prevented with CMZ/MTZ pre-treatment for 1-2 months and stopped 3-5 days before treatment; try not to use PTU as this decrease efficacy of I -131 treatment Observed if mild or treat with beta blockers Should not give antithyroid medications unless severe or expected to be severe due to poor control at the time of I-131 administration Worsening of ophthalmopathy especially in smokers and severe hyperthyroidism Administration of glucocorticoids can prevent worsening Thyroidectomy o Indications includes “Cs”: Cancer (dominant nodule), cosmesis, compression o Effective in 90% o Not a/w worsening of Grave‟s ophthalmopathy o Side effects : recurrent laryngeal nerve, hypoparathyroidism (1-2%) o Medications given prior to surgery and Lugol‟s iodine given 7-10 days prior to surgery (2) MNG Render euthyroid with thionamide As spontaneous remission does not occur, ablative therapy required No obstruction – Radio-iodine Obstruction – Surgical (3) Toxic Adenoma Render euthyroid with thionamide Radio-iodine – hypothyroidism side effect is less compared to Grave‟s disease as the toxic adenoma suppresses the other thyroidal tissue Surgical – Lobectomy (4) Subacute thyroiditis Should not Rx with thionamides Rx with propranolol, aspirin, NSAIDs and glucocorticoids How would you counsel a young woman with thyrotoxicosis who wishes to be pregnant? Ideally, pregnancy should be avoided until hyperthyroidism is adequately treated because the rate of fetal loss is high If it occurs or recurs during pregnancy, then o Treat with PTU Lowest dose possible such that fT4 is at the upper range of normal Combination therapy contraindicated because PTU passes the placenta but thyroxine doesn‟t, resulting in fetal hypothyroidism PTU better because of better binding to proteins and therefore less transplacental transfer theoretically; also CMZ a/w rare side effects of aplasia cutis congenita, esophageal and choanal atresias o Can also be safely treated with surgery in the second trimester with almost no risk of death in experienced hands rd o In the 3 trimester, TSI levels declines and remission of hyperthyroidism occurs; stopping medications is possible then o 1-5% of fetuses may be hyperthyroid resulting in IUGR and tachycardia o up to 750mg/d PTU or 20mg CMZ can be safely used in lactating mothers

172

How do you treat Graves ophthalmopathy? General measures o Maintenance of euthyroidism o Stop smoking o Sleep with head raised o Use of artificial tears o Diuretics o Tinted glasses Specific measures (for severe disease) o Glucocorticoids – 40-80mg OM then taper over 3 months o Radiotherapy o Surgical decompression Stable disease o Surgery for lid retraction, exomphthalmos or diplopia

173

78. Paget‟s disease (Spot diagnosis – large head with hearing aid and it‟s not Acromegaly!) Examination Head Enlargement of the skull, especially in the frontal and parietal Measure circumference (>55cm = abnormal) Prominent scalp veins Palpate skull for warmth Auscultate the skull for bruit Face RAPD, VA and visual fields Hearing aids, tests for deafness (conduction vs SNHL) Other CNs Neck Platybasia (basilar invagination) – short neck, low hairline JVP Back for kyphosis, tenderness, warmth and systolic bruits Upper limbs Obvious bowing of the long bones Cerebellar signs from platybasia Lower limbs Lateral bowing of the femur Anterior bowing of the tibia Warmth OA knees Obvious paraplegia Bilateral pedal edema Request for Fundoscopy to look for optic atrophy and angiod streaks Neurological examination of the LLs and ULs for cord compression or nerve root compression signs Urinalysis Hematuria from urolithiasis Presentation Sir, this patient has Paget‟s disease as evidenced Bony features enlarged skull, >55cm, short neck and low hairline, back, UL and LL bowing Warmth, tenderness, systolic bruits OA knees Neurological VIII nerve (hearing aid), CNs Cerebellar Obvious paraplegia CVS – no raised JVP or bilateral pedal edema Complete my examination Fundoscopy Urinalysis Neurological examination History of increase in hat size In summary, patient has Paget‟s disease with complication of left-sided deafness requiring a hearing aid.

174

Questions What are the differential diagnoses for bowing of the tibia? Paget‟s disease (Asymmetrical) Rickets disease (bilateral symmetrical) Congenital syphilis Yaws Periosteitis with apparent bowing What is Paget‟s disease? Metabolic disease characterised by excessive and abnormal remodelling of bone Primary defect lies in increased osteoclastic activity with increased bone resorption and increased osteoblastic activity There is excessive bone resorption with compensatory disorganised deposition of new bone Males 2X more common and increases with age Association with measles and paramyxovirus, cause is unknown Stages Lytic phase then Mixed intermediate phase (lytic and blastic) Sclerotic phase What are the complications? Bony and immobilisation Pathological fractures Sarcomatous change in 1% OA Protrusio acetabuli Neurological Obstructive hydrocephalus CNs Hearing loss Conductive more commonly for otosclerosis of the ossicles Sensori-neural hearing loss from auditory nerve compression Optic atrophy Spinal cord compression(basilar invagination) or nerve root compression High-output cardiac failure Metabolic Gout – hyperuricaemia from rapid bone resorption during prolonged immobilisation Urolithiasis from hypercalciuria Hypercalcaemia from immobilisation How would you investigate? Urinary hydroxyproline – increased Reflects increased osteoclastic activity and bone resorption Fasting sample required False positive if diet contains hydroxyproline, skin disease Blood Ix Serum Ca and PO4 normal but high in prolonged immobilisation or malignancy Serum ALP high (increased osteoblastic activity) Imaging Skull - “cotton wool appearance”, osteoporosis circumscripta Pelvis – “brim sign” thickening of the iliopectineal line Vertebrae – “picture frame” sign with sclerotic margins Long bones – increased trabeculation and localised bone enlargement Bone scan – increased uptake reflects activity and useful for monitoring disease How would you manage? Education and counselling Most are asymptomatic and do not require treatment PT, OT and ST Symptomatic Painkillers Treat disease Indications Bone pain, osteolytic lesions in weight bearing bones, delayed or non-union of fractures, neurological complications (except hearing loss), cardiac complications Bisphosphonates and salmon calcitonin Treat complications What are angiod streaks? Linear disruptions of Bruch‟s membrane with proliferative connective tissue emerging through the defects.

175

79. Panhypopituitarism (Simmond‟s disease) Clinical o Pale, soft skin, loss of axillary hair, breast atrophy, hypogonadism, gynaecomastia and galactorrhea (hyperprolactinaemia), pallor and hairlessness (=alabaster skin) o Features of hypothyroidism o Postural hypotension Etiology o Visual fields for bitemporal hemianopia (Chromophobe adenoma) o Fundoscopy for papilloedema o Radiation marks or signs o Surgical scar marks o Others Postpartum Necrosis (Sheehan‟s syndrome) Pit apoplexy (spont infarct or hemorrhage) Craniopharyngioma TB, sarcoid, metastatic Ix o Blood test FBC – NCNC anemia U/E – hypoNa, LF/FSH, GH, PRL, TSH, ACTH Testosterone, estradiol, T4, Cortisol level Stimulation test – Synacthen test, insulin hypoglycemia test (gluc, 2.2 and check cortisol an GH) o Imaging – MRI o Formal perimetry Notes o Fail in order of FSH/LH, GH, PRL, TSH and ACTH and lastly ADH o Usually macroadenoma for acromegaly and non functioning tumors o Mx – replacement of steroids and thyroid and sex hormones and GH o Must always replace steroids first then thyroid to prevent adrenal crisis o Steroid replacement may unmask diabetes insipidus

176

80. Addison‟s disease Clinical o Weakness, LOA and LOW o Hyperpigmentation Crease of the palms Mouth and lips Nipples, belt, straps, rings o Sparse axillary hair, pubic hair, postural hypotension o Associations – vitiligo, polyglandular (hypoparathy, DM, thyroid) o Dy/Dx – Nelson‟s syndrome = look for abdominal scar and visual field, Liver, renal Ix o Confirm dx with synacthen test o Confirm level ACTH Prolonged ACTH test Will respond if there is suppression by exogenous steroids or ACTH deficiency Imaging o If adrenals AXR (calcification) CT adrenals CXR : TB Adrenal Antibodies Mx o Replace steroids o Fludrocortisone o Steroid card Notes o Causes of hyperpigmentation Addison‟s, Nelson‟s, ectopic ACTH Liver – PBC, hemochromatosis Uremia Race, suntan Porphyria cutanea tarda o Causes of Addison‟s AI (21 hydroxylase) TB Mets HIV o Association Graves, Hashimoto, Pernicious anemia AI polyglandular syndromes Type 1: Addison‟s, hypoparathy, chronic mucocutaneous candidiasis Type 2: Addison‟s, hypothy, DM 81. Gynaecomastia Physiological o Newborn o Adolescence o Ageing Pathological o Cirrhosis of the liver, renal failure o Hyperprolactinoma, thyrotoxicosis o Klinfelter‟s o Malignancy (HCC, Lung CA, Testicular) Pharmacological o Digoxin, spironolactone, cimetidine, methyldopa, diazepam

177

DERM! 82. Dermatology Overview rd Note: Number in brackets refer to the page numbers of “250 Cases In clinical Medicine” by R.R Baliga, 3 Edition. Generalised Maculopapular rash (389) Erythema multiforme (423) Steven Johnson Syndrome (423) Dy/Dx – Staphylococcal Scalded Syndorme Purpura (see notes) Henoch Scholein Purpura (399) Systemic Lupus Erythematous (417) Bullous eruption (396) Dermatitis herpetiformis (456) (dy/dx scabies) Herpes zoster Herpes labialis Urticaria (496) Vasculitis Urticaria pigmentosa (500) Eczema (475, 484) Kaposi (460) Mycosis fungoides (498) Psoriasis (see notes) Dy/dx (mycosis fungoides and Bazex syndrome) Lichen Planus (see notes) Purple hue – dermatomyositis, sarcoid Erythroderma (see notes) Sezary syndrome (mycosis fungoides) Multiple lumps NF Dercum‟s disease Multiple exostosis Gardner‟s syndrome

178

Face Alopecia (472) Scarring (infective/Discoid lupus, Lichen planus) Non-scarring (alopecia areata, totalis, universalis/telogen effluvium/male balding) Acne (470) Rosacea (454) SLE (417) Dermatomyositis (see notes) Mitral stenosis Seborrheic dermatitis (493) Telengiectasia (403) Sturge Weber (468) Peutz Jeghers (463) Hereditary Haemorrhagic Telengiectasia (403) Shovlin Criteria (epistaxis, telangiectasia, visceral and AD) Dy/dx (CLD, AI, rosacea, lupus pernio,radiation) Lupus pernio (435) Nose disfigurement Lupus pernio Lupus vulgaris Leprosy Rhinophyma Xanthelesma (See Limbs) Hirsutism (428) Radiation marks (444)

179

Limbs Ulcers of Lower Limbs (477,478) Pyoderma gangrenosum (466) Loose skin Pseudoxanthoma elasticum (451) (also has grouped papules) Ehlers Danlos (508) Hyperextensible Joints Ehlers Danlos (508) Marfan (see rheumatology) MEN type 2B Klinefelters

Ichthyosis (401) Inherited or malignancy(Breast, haematological) Raynaud‟s phenomenon (415) Phleblitis migrans (421) Erythema ab igne and livedo reticulais (426) Bad nails Psoriasis Lichen planus Alopecia areata (472) Fungal (482) Lipoatrophy (433) Xanthelasma (439) Tendon xanthomaa (446) Eruptive xanthoma (448) (dy/dx- pseudoxanthoma elasticum, molluscum contagiosum 494) Palmar xanthoma (450) Tuberous xanthomas Shin lesions Necrobiosis lipodica diabeticorum (442) Pretibial myxedema (514) Erythema nodosum (480) DM dermopathy Erythema ab igne Livedoreticularis Melanoma (490) Hypopigmentation Vitiligo (412) Post inflammatory Pityriasis alba Tinea versicolor

180

83. Psoriasis – Locomotor (10% of Psoriasis with Joint involvement) Presentation Sir, this patient has psoriatic arthropathy affecting the hands of the 6. Arthritis mutilans type (bilateral deforming arthropathy, telescoping of the digits) 7. RA type (symmetrical joint involvement) 8. OA type (asymmetrical terminal joint involvement) 9. mono/oligoarticular type 10. AS type (Sacroilitis, but the syndesmophytes arise from the lateral and anterior surface and not at the margins unlike AS) With 7. 8. 9. 10. 11.

Bilateral deforming polyarthropathy, and joint deformities, tender (activity) sausage shaped fingers, tenosynovitis wasting dorsal guttering and wasting of the thenar and hypothenar eminence nails – pitting, onycholysis, subungal hyperkeratosis, discoloration of the nails (80% involvement with arthropathy) Skin patches – well circumscribed plagues on the extensor surfaces of the elbows and scalp, with salmon pink hue and silvery scales 12. surgical scars

Joint function 6. Impaired or preserved 7. able to grip and do pincer movement 8. coarse function – turn a doorknob 9. fine function – cap a pen, transfer coins, unbutton clothes 10. able to abduct and internally rotate her shoulder joints which are important for her ADLS Treatment complications – Steroids for arthritis Mention no evidence of Gout (as this is associated with Psoriasis) Complete my examination by examining for other joint involvement Skin – especially scalp, knees, natal cleft, intragluteal folds, submammary folds, Koebner‟s phenomenon Enquire on aggravating factors Questions What are the types of skin lesions? Plague Guttate (numerous small papular, hx of streptococcal infection Pustular (localized or generalized, superficial pustules may stud the plagues) Erythrodermic (generalized erythema and scaling which may be life threatening) Inverse psoriasis (plagues evolving in the intertriginous area without typical silvery scales due to moisture and maceration) Where are the typical sites of distribution? Extensor surfaces of knees, elbows, scalp, navel, natal cleft, submammary and intragluteal folds How do you assess severity? Psoriasis Area and Severity Index – area, thickness, redness and scaling Total score 72 - 50 for mild, moderate and severe respectively What are the types of joint involvement in psoriasis? OA RA AS Oligo/mono Arthritis mutilans Radiological features of psoriatic arthritis? Periostitis – “fluffy” Destruction of small joints “Pencil in cup appearance” Non –marginal syndesmophytes in AS type What are the unique characteristics of psoriatic lesions? Salmon pink hue with silvery scales Koebner‟s - New psoriatic skin lesions at site of cutaneous trauma Moist red surface on removing of scales (Bulkeley‟s membrane) Auspitz‟s sign – capillary bleeding when silver scales are picked from the plague

181

What is Koebner‟s phenomenon and which other conditions is it seen? New skin lesions at the site of cutaneous trauma Occurs in 30% of patients with psoriasis, usually occurring 10-20 days postTrauma, ranges from 3 to 2 years Also occurs in eczema, lichen planus, vitiligo and lichen sclerosus et atrophicus What is the pathology? Hyperproliferation of the epidermis with inflammation of the dermis and epidermis. What are the differential diagnoses for onycholysis? Psoriasis Fungal infection Thyrotoxicosis (Plummer‟s nails) Lichen Planus What are the aggravating factors? Emotional stress Alcohol Drugs – beta blockers, ACE inhibitors, Indocid, Lithium & antimalarials Streptococcal infection (classically associated with guttate psoriasis) Injury to the skin – mechanical injury and sunburn What are the principles of management? Education Avoidance of aggravating factors Topical – WSP, salicyclic, aqueous cream Topical – Topical steroids, coal tar, Dithranol, Calcipotriol (Vit D3 which acts to increase keratinocytes differentiation as a result of increased extracellular calcium therefore decreased cellular proliferation and scaling), topical retinoids Systemic – UVB, MTX, Retinoids, systemic steroids, cyclo, tacrolimus and MMF Novel – immunodulators (infliximab, etarnacept) What is the prognosis? Deforming and erosive in 40% 10% are disabled by the arthropathy What other joint pathology can patients have especially if disease is active? Gout – because of hyperproliferation Others 30% have family history Psoriasiform lesions on the fingers, toes, nose and ears – exclude SCC of the Oropharynx, tracheobronchial tree and esophagus – Bazex syndrome.

182

84. Lichen Planus Presentation Sir, this patient has Lichen planus as evidenced by Cs Grouped and confluent Flat-topped, polygonal, sharply defined papules Violaceous Wickham‟s striae Koebnerisation Pruritic scratch marks Post-lesional hyperpigmented macules Distribution Flexor areas of the ULs – wrists and forearms Sacral area, groin Palms and soles Nails Dystrophy of nail plates Longitudinal ridging Longitudinal melanonychia Subungal hyperkeratosis Onycholysis Pterygium Complete loss of nail bed Scalp Scarring/cicatrical alopecia Mucosal White lacy-like lesions, asymptomatic Ulcers for erosive form There are no surgical scars noted and patient is not jaundiced with no stigmata of chronic liver disease which may suggest Hepatitic C infection I would like to complete the examination Drug history Antihypertensive – B-blockers, thiazides, methyldopa Antimalarials – quinine Anti-diabetic (Tolbutamide) Phenothiazines, Gold Occupational history Color film developer In summary this patient has lichen planus affecting his upper limbs, nails and oral mucosa and is troubled by pruiritus.

183

Questions What are the types of Lichen Planus? Hypertrophic (plague-like lesions on the tibia; Afro-carribean) Erosive (mouth ulcers with risk of SCC) Bullous Follicular Guttate How would you Ix? Skin biopsy with IF Dx is triad of Typical skin lesions T-cell infiltration of the dermis in a band pattern IgG and C3 immunofluorescence at the basement membrane of the dermis How would you manage? Education Px – skin lesions are not premalignant; oral ulcers can progress to SCC Most resolves within 6-18 months Pharmological Steroids – topical, intralesional and systemic Cyclosporin – topical for mouth lesions, systemic MMF Retinoids PUVA What is Pterygium of the nails? Cuticle invades the nail bed; Cs of Lichen planus What are the differential diagnoses for white lesions of the mouth? Lichen Planus Candidiasis Secondary syphilis Leukoplakia Squamous papilloma What are the differential diagnoses of oral ulcers? Erosive Lichen planus Pemphigus vulgaris SJS Drug eruptions Infective – HSV Inflammatory bowel disease Aphthous ulcers Behcet‟s disease What are the differential diagnoses for violaceous lesions? Lichen planus Sarcoid (lupus pernio) Dermatomyositis (eruptive xanthomas of the skin may mimic the polygonal lesions of LP)

184

85. Neurofibromatosis (von Recklinghausen‟s disease) Examination Spot diagnosis Look at the arms for café-au-lait spots, axilla for freckles Look at the face o Eyes – Lisch nodules (brown pigmentation of the iris) o Ears – deafness Lower limbs o Bowed legs, pseudoarthrosis Request o Chest – café-au-lait spots, axillary freckling, kyphoscoliosis o Fundi – optic gliomas, retinal harmatomas o Abdomen – auscultate for renal bruit o Pulses for coarctation o BP – hypertension in renal artery stenosis, coarctation, phaeochromocytoma o Family Hx Presentation Sir, this patient has neurofibromatosis type 1 as evidenced by presence of multiple neurofibromas which are subcutaneous nodules some of which are pedunculated with a generalised distribution associated with cafe-au-lat spots which are brown macules present on the upper limbs and chest as well as axillary freckling. On examination of his eyes, there are Lisch nodules detected and no deafness on screening (acoustic neuroma). Examination of the lower limb does not reveal any bowed legs or pseudoarthrosis. I would like to complete the examination by: o Chest – café-au-lait spots, axillary freckling, kyphoscoliosis, lung fibrosis o Abdominal examination o Pulses o Fundi – optic gliomas, retinl harmatomas o Cranial nerve examination – V, VI, VII, VIII, Cerebellar o BP – hypertension in renal artery stenosis, coarctation, phaeochromocytoma o Family Hx Questions What are the type of neurofibromatosis? Type 1 and 2 What are the diagnostic criteria? Type 1 - 2 or more of: Café-au-lait spots (6 or more, each >15mm in diameter) Neurofibroma (2 or more) or plexiform Freckles in the axillae or inguinal (Crowe‟s sign) Bone lesions – Sphenoid dysplasia Lisch nodules FHx – 1 or more first degree relative Type 2 – Either 1. Bilateral eight nerve palsy on CT/MRI OR 2. First degree relative with type 2 and either a. unilateral eighth nerve mass or b. 2 or more: neurofibroma, glioma, schawnomma, meningioma or juvenile posterior subcapsular lenticular opacity. What are Lisch Nodules? These are melanocytic harmatomas of the iris that appear as well-defined, dome-shaped elevations projecting from the surface of the iris which are yellow or brown in color. Incidence increases with age and by 20 years, 100% have them. Why are the possible causes of hypertension? Renal artery stenosis Pheachromocytoma Coarctation of the aorta What are the histology of the skin tumors? Schwanommas Neurofibromas

185

What is the mode of inheritance and on which chromosome? Autosomal dominant Type 1 – Chromosome 17 (Neurofibromin which is a tumor supp gene) Type 2 – Chromosome 22 (tumor supp gene) If a parent is affected, child has 50% of being affected If family has history of type 2, others should be screen with hearing tests and brainstem auditory evoked response. How would you investigate? Diagnosis is clinical. How would you manage? Education and counselling Most do not require treatment Managing complications hypertension, excision of painful neurofibroma, radiation of optic glioma. What are the associations and complications of the disease? 1. Childhood leukaemia 2. CNS complications a. Mental retardation b. Epilepsy c. Obstructive hydrocephalus sec to stenosis of aqueduct of Sylvius d. Optic gliomas, acoustic neuromas, meningiomas e. Cord compression form spinal nerve root involvement 3. Sarcomatous changes 4. Bony complications a. Intraosseous bone cysts b. Bowed legs secondary to thinning of the cortices of long bones c. Pseudoarthrosis of the tibia d. Rib notching e. Sphenoidal dysplasia 5. Lung cysts 6. Hypertension a. Coarctation b. Renal artery stenosis c. Phaeochromcytoma (5%) What can be a possible differential diagnosis? Dercum‟s disease. What are the other neurocutaneous conditions that you are aware of? Tuberous sclerosis (spot diagnosis) (= Bourneville‟s or Pringle‟s disease) o Hx of epilepsy or seizures, FHx – Aut dominant o Face – adenoma sebaceum (angiofibromas distributed in a butterfly pattern over the cheeks, chin and forehead (dy/dx acne, Cushingoid?) o Chest and back Shagreen patches (leathery thickenings localised patches over the lumbosacral region) Ash-leaf hypopigmentation Café-au-lait macules o Hands – subungal fibromata o Systemic CVS – CCF and arrythmias, cardiac rhabdomyomas Resp – fibrosis Abdomen – polycystic kidneys, renal angiomyolipomas CNS – retinal harmatomas o Mx Education Rx seizures Sturge-weber syndrome o Spot Dx o Hx – seizures, hemiparesis, hemisensory, mentally retarded o Signs Port wine stains in V1 and V2 distribution Hypertrophy of area involved Hemangiomas of the iris Fundus for choroidal haemangiomas BP for hypertension secondary to phaeochromocytoma o Ix – SXR tramline calcification parietal-occipital lobe o Mx Seizures control Skin – photothermolysis Eye – screen for glaucoma and Mx choroidal angiomas Von-Hippel-Lindau disease

186

86. Purpura (Approach: Establish purpura, rule out anaemia and neutropenia, establish cause) Examination Introduce, thank pt, ask for pain and request to undress, note any nasal speech (Wegener‟s) General inspection Age Cushingoid Renal failure, CLD Extent – ULs, LLs trunk Examine individual lesions in the ULs or LLs Palpable = vasculitis Central hemorrhagic necrosis of HSP Petechiae, ecchymosis Cockscrew hair, perifollicular haemorrhages Thin skin Upper limbs Hands RA/SLE/Scleroderma IE signs – Osler‟s nodes, splinters, clubbing Nails involvement CLD stigmata Elbows RA nodules, thickened nerves (leprosy) Face Jaundice Conjunctival pallor (haematological disease) Malar rash Mouth – Ulcers, rashes, bleeding gums (scurvy for elderly patient) Chest CLD stigmata Lower limbs Arthritis of knees and ankles Examine the feet Requests LNs Abdominal examination – hepatosplenomegaly Peripheral neuropathy Temperature chart Urine dipstik – hematuria in vascultis with renal involvement Drug history Presentation Sir, this patient has Purpura/palpable purpura as evidenced by non blanchable, well-demarcated reddish/purplish patches Presence/absence of petechiae, ecchymosis Distribution and extent Anaemia and mouth ulcers (neutropenia) Cause (purpura) Age (Mention perifollicular haemorrhages and cockscrew hair if elderly) Cushingoid renal failure Liver failure Chest scars – anticoagulation Obvious haemarthrosis (haemophilia) Ehlers Danlos Cause (palpable purpura) AI conditions Infections Malignancy Drugs Treatment (Cushingoid – can be cause of purpura or treatment for vasculitic rash) Complete examination for spleen, liver and LNs

187

Questions What are your differential diagnoses for purpura? Thrombocytopenia o ITP o BM infiltration – haematological malignancies o BM aplasia o CLD Capillary fragility o Senile purpura o Chronic steroid ingestion o Vasculitis eg HSP o Renal failure Coagulation factors (ecchymoses) o Haemophilia o Christmas disease o Anticoagulation o CLD What are the causes of a palpable purpura/vasculitis rash? Autoimmune o SLE/RA/SSc o Churg-Strauss/PAN/Wegener‟s o PBC/UC/Cryoglobulinaemia Mitotic o Solid o Haematological – Lymphoproliferative, paraproteinaemia Infective o Viral – HIV, Hep B, Hep C, EBV, influenzae o Bacterial – IE, TB, leprosy, Streptococcal Drug o Aspirin o Antibiotics (penicillins, sulphonamide) o Allopurinol o Anticoagulant o Phenytoin, Gold Idiopathic What are the common causes of purpura? Senile purpura Secondary to steroids and anticoagulants Thrombocytopenia from leukaemia or marrow aplasia How would you investigate this patient? After taking a detailed drug history Blood Ix – FBC, biochemistry, liver function test, coagulation profile and protein electrophoresis (rule out paraproteinaemia), ANAs, dsDNA, ANCAs Skin Bx – small vessel vasculitis Others – Bone marrow biopsy, trephine biopsy of the iliac crest

188

87. Dermatomyositis Examination “Examine this patient‟s skin/face/hands” “Look and proceed” “This patient has dysphagia, please examine her” (Similar to sun-exposed rash) Face Helitrope rash Neck and shoulder – shawl sign Weakness of neck flexion Conjunctival pallor (associated with myeloproliferative or GI malignancies) SLE or SScl for overlap syndrome Hands Grottron‟s sign Vasculitis, capillary loops at the base of fingernails Raynaud‟s phenomenon Calcinosis (usually in children) SLE or SScl or RA for overlap syndrome Upper limbs Elbows for rashes Tenderness of muscles Test power, demonstrating proximal weakness Loss of reflexes Show no loss of sensory Knees for rash Request to screen for underlying mitotic lesions such as breast, respiratory and abdominal examination and screen for interstitial fibrosis. Presentation Sir, this patient has got dermatomyositis. There is the presence of heliotrope rash, which is a purplish-blue rash, around the eyelids and periorbital area and on the dorsum of the hands. This erythematous rash is also present on the neck and the shoulders, ie in a “shawl” distribution as well as on the sun-exposed areas. There is also involvement of the extensor surfaces of the elbow and knees. There is also periorbital edema. Examination of the hands reveals also presence of Grottron‟s papules, which are flat-topped, violaceous papules over the dorsum of the knuckles and interphalangeal joints. The erythematous rash spares the phalanges. There is presence of nailfold vasculitis and telengiectasias. The cuticles are irregular, thickened and distorted. There is hyperkeratosis of the palms which resembles a mechanic‟s hands. I did not notice any Raynaud‟s phenemenon. There is also no calcinosis. There is tenderness of the muscles with proximal weakness. There is no sensory loss. There is also weakness of neck flexion. I did not detect any clinical features of Systemic sclerosis or systemic lupus erytthromatosis or rheumatoid arthritis to suggest an overlap syndrome. I would like to complete the examination by screening for any associated underlying mitotic lesion. There are also no features of chronic steroid use.

189

Questions What is dermatomyositis? It is an idiopathic inflammatory myopathy with characteristic cutaneous findings. How do you diagnose DM/PM? 4 out of 5 criteria: Progressive, proximal, symmetrical muscle weakness Raised CK Cs EMG findings Cs findings on muscle Bx Compatible dermatological findings What are the types of dermatomyositis? Dermatomyositis Polymyositis Amyopathic dermatomyositis (no muscle involvement, just skin features) How do you classify? 5 Groups, Group 1 to 5 respectively Idiopathic polymyositis Idiopathic dermatomyositis A/w neoplasia Childhood a/w vasculitis A/w collagen vascular disease How would you investigate this patient? Creatinine kinase levels – raised and reflects disease activity ANA levels, anti-Mi-2, anti-Jo1 EMG – myopathic changes which are spontaneous fibrillations, salvos of repetitive potentials and short duration of polyphasic potentials of low amplitudes Muscle biopsy – necrosis and phagocytosis of muscle fibres, with interstitial and perivascular infiltration of inflammatory cells. Ba swallow – for atonic dilated esophagus (if stem statement states patient has dysphagia) Other Ix to rule out malignancy (breast, lungs and GIT, ovaries) and mixed CT disease What is your differential diagnosis for myositis with raised CK levels? Statin, chloroquine and colchicine What are some disorders associated with myositis? Drugs Infectious – Lyme‟s disease, CMV Eosinophilic myositis Outline your management. Educate and counselling Treat underlying malignancy General meausures Skin – sun avoidance and sunscreens Muscle – bedrest, PT and OT, ST and bed elevation if dysphagia Medical treatment Steroid treatment (prednisolone 1mg/kg/day) IVIG, methotrexate or azathioprine Calcium channel blockers eg diltiazem for calcinosis What is the prognosis? Depends on Presence of underlying malignancy Severity of myopathy Presence of cardiopulmonary involvement

190

EYE! 88. Diabetic Retinopathy Presentations (Can still use the older classification) Sir, this patient has: (a)Type and location 1.

2. 3.

4.

Background diabetic retinopathy affecting the inferior/superior temporal/nasal quadrants of the retina (usually seen in the posterior pole, ie area between the superior and inferior temporal quadrants) as evidenced by a. Microaneurysms b. Dot, blot or flame shaped haemorrhages c. Hard exudates Preproliferative diabetic retinopathy affecting the inferior/superior temporal/nasal quadrants of the retina a. Cotton-wool spots b. Venous dilatations, beading, looping or segmentation Proliferative retinopathy diabetic retinopathy a. Neovascularisation i. At the disc ii. Affecting the inferior/superior nasal/temporal quadrants of the retina Diabetic maculopathy a. Circinate formatiuon of hard exudates at or near the macula b. Macular edema (cannot be seen by direct ophthalmoscopy)

(b)Treatment for (3) and (4) 1. 2. 3.

Focal photocoagulation scars Panretinal or scatter photocoagulation scars Macular photocoagulation scars

(c)Complications (for proliferative) 1. 2. 3.

Vitreous haemorrhages Fibrosis with traction retinal detachment Optic atrophy (for all)

(d)Associations (mention if present) 1. 2. 3. 4.

Xanthelesma Cataracts Hypertensive changes Robeosis irdis

191

Questions What are microaneurysms? They are well-defined red dots seen in the superficial retinal layers which represents outpouching of the retinal capillaries; earliest sign of diabetic retinopathy Can also be seen in o Hypertensive retinopathy o Collagen vascular disease o Severe anaemia o Dysproteinaemia What are flame-shaped haemorrhages? Superficial bleed shaped by nerve fibres into a fan shape which points towards the disc What are dot and blot haemorrhages? Formed as a result of rupture of microaneurysms with bleeding into the deep layer of the retina How do you differentiate between dot haemorrhages and microaneurysms? This is difficult and differences includes: Microaneurysms are well defined and last for months to years whereas dot haemorrhages tend to be have an irregular outline and disappears within a few days Fluoroscein angiography of which microaneurysms are hyperfluoroscent whereas dot haemorrhages are hypofluoroscent What are hard exudates? These are minute, yellow, well defined deposits of lipo-protein and lipid-laden macrophages What are cotton-wool spots? Build up of axoplasmic material due to interrupted flow caused by ischaemia from capillary occlusion in the retinal nerve fibre layer What are IRMAs? It stands for intraretinal microvascular abnormalities. They are remodelled capillary beds without proliferative changes and are collateral vessels that do not leak on fluoroscein angiography. Usually found on the borders of non-perfused retina What is neovascularisation? Formation of abnormal new vessels on the retinal surface and at the optic disc as a result of ischaemia These are fragile and tend to bleed into the vitreous leading to vitreous haemorrhages and fibrous tissue formation with resultant traction retinal detachment What is clinically significant macular edema? Thickening of the retina at or within 500 microns of the centre of the macula Areas of thickening 1 disc area or larger, any part of which is within 1 disc diameter of the centre of the macula Hard exudates at or within 500 microns of the center of the macula, if associated with thickening of the adjacent retina What is the pathogenesis of diabetic retinopathy? Earliest stages are characterised by increased vascular permeability, leading to fluid accumulation in the retina (seen by leakage of fluoroscein dye into the vitreous humor) Later there is vascular closure causing retinal ischaemia leading to neovascularisation of the retina These new vessels are prone to complications of vitreous haemorrhages, fibro-proliferative changes, retinal detachment and neovascular glaucoma How can diabetes mellitus affect the eye? Eyelids – xanthelasma (association) Extraocular – mononeuritis multiplex, diabetic third (spares the pupils and associated with headache; resolves within 3 months) or sixth nerve palsies Anterior chamber – neovascular/rubeotic glaucoma Iris – rubeosis irdis Pupils – Argyll Robertson pupil, RAPD Lens – cataracts(higher incidence and occurs at a younger age), refractor errors (occurs due to fluctuation in the blood sugar level especially when starting treatment; it is a benign condition) Vitreous body - haemorrhages Retina – DM eye changes, hypertensive, CRAO, lipaemia retinalis Optic nerve – optic atrophy, ischaemic papillitis Orbit – mucormycosis

192

How can patients present clinically? NPDR – asymptomatic PDR o Asymptomatic o Reduced VA or blindness as a result of complications CSME o Asymptomatic o Reduced in VA o Paracentral scotoma o Decrease in central vision What conditions can cause blindness in diabetic eye disease? Macular edema Retinal detachment Vitreous haemorrhages 3.6% of type 1 and 1.6% of type 2 were legally blind according to the WESDR When should we screen for diabetic eye disease? Type 1 DM – within 3-5 years of Dx of DM Type 2 DM – at diagnosis Pregnancy with pre-existing DM – prior conception and first trimester How should we screen for diabetic eye disease? Fundal photography Indirect ophthalmoscopy with slit-lamp biomicroscopy Direct ophthalmoscopy through dilated pupils How frequent should patient‟s be followed up? No retinoapthy – annually NPDR o Mild and no retinal edema – 6 to 12 monthly o Presence of retinal edema – 4 to 6 monthly o Macula affected or severe – 1-4 monthly PDR – 1 to 4 monthly How soon must you refer a patient with diabetic eye disease to the ophthalomologist? All patients with DM retinopathy needs a referral to an ophthalmologist Immediately (1 day) o Sudden loss of vision o Retinal detachment Urgently (within 1 week) o Neovasculariastion o Pre-retinal or vitreous haemorrhages o Rubeosis irdis Soon (within 4 weeks) o Pre-proliferative changes o Macular diabetic changes o Unexplained drop in VA What are the risk factors for diabetic eye disease? Poor glucose control o WESDR (Wisconsin Epidemiologic study of DR) o DCCT (Diabetes Control and Complications trial) Hypertension o UKPDS (UK prospective diabetic study) o Aim < 130/80 mmHg Hyperlidaemia Renal disease – aggressive treatment of renal disease may slow progression of DM retinopathy and prevent neovascular glaucoma Cigarette smoking Duration of diabetes (non-modifiable) o After 20yrs, nearly all patients with type 1 and 60% of type 2 will have DR Pregnancy (non-modifiable)

193

How do you manage patient‟s with diabetic eye disease? Management of the diabetic eye includes: o Prompt referral to the ophthalomologist (see above) o Macular edema – focal or grid macular laser o NPDR – none or consider scatter laser if severe o PDR – scatter laser o Vitreous surgery Non-resorbing vitreous opacities Traction retinal detachment threatening or involving the macula Progressive fibro-proliferative diabetic retinopathy Combined rhegmatogenous and traction retinal detachment Pay attention to o Glycaemic control o Blood pressure o Quit smoking o Screen for other DM complications especially DM renal disease o Control hyperlidaemia Engage patient o Education o Importance of regular follow up How would you manage a patient who requires laser therapy but has cataracts? If fundal visibility permits, laser treatment administered prior to cataract surgery If not, cataract surgery followed by prompt laser treatment How effective is laser photocoagulation? For visual salvage in maculopathy o Effective in 50-60% of cases For reduction of already formed abnormal new vessels on the retina o It can abolish new vessels in up to 80% of patients with PDR and follow up showed that disease had stabilised or cured o In pan-retinal photocoagulation, it reduces the ischaemic and hypoxic retina, reducing angiogenic factors and neovascularisation o It can alsobe used to treat microaneurysms There may be loss of peripheral vision

194

89. Hypertensive Retinopathy Presentation Sir, this patient has got grade 4 hypertensive retinopathy as evidenced by Presence of narrowed, tortous and irregular retinal arteries with increased light reflex, demonstrating the silver/copper wiring There is arterio-venous nipping With evidence of flame shaped and blot haemorrhages and cotton wool spots and hard exudates, especially around the macula, forming a macular star Associated with papilloedema I did not notice any concomitant features of diabetic retinopathy. However the patient does have xanthelesma. There are no signs of chronic renal failure such as sallow appearance. Patient does not have any cushingoid or acromegalic or polycythaemic features which are conditions associated with hypertension. I would like to complete my examination by taking the blood pressure of this patient as well as examine his Cardiovascular system RR/RF delay – coarctation of the aorta (state if young) Evidenced of LVH S4 if BP>180/110 (state if grade 3 or 4 changes noted) Abdominal examination for renal bruit (renal artery stenosis) or ballotable kidneys (polycystic kidney disease) or palpable adrenal masses Urine dipstick for proteinuria, casts, glycosuria CNS for signs of previous CVA

195

Questions How do you grade hypertensive retinopathy? Keith Wagner Classification Grade 1 – Arteriolar narrowing, tortousity, irregular calibre with copper/silver wiring Grade 2 – Arteriovenous nipping Grade 3 – flame-shaped and blot haemorrhages, cotton wool spots and hard exudates Grade 4 – Papilloedema Clinical features and prognosis of grade 3 and 4 are the same Explain their physical appearance? Young patients, retinal arterioles react to hypertension via constriction, hence arteriolar constriction or narrowing In older patients, there is arteriosclerosis hence irregular calibre. Also the thickened walls shows a widening of the normal light reflex, giving the blood column a copper appearance (copper wiring) or silver appearance (silver wiring) At arteriovenous crossing, the thickened arteriolar walls displace and constricts the veins, resulting in AV nipping The arteriolar may be damaged by necrosis leading to flame shaped haemorrhages, cotton wool spots caused by microinfarcts, as well as retinal edema Chronic retinal edema at the macula results in hard exudates radiating from the macular, ie macular star Finally papilloedema results How do patients normally present? Normal vision Except when there is associated macular involvement What are the causes for retinal haemorrhages? Diabetic retinopathy Hypertensive retinopathy CRVO Severe anaemia, leukaemia What are the causes for cotton wool spots? DM preproliferative retinopathy Hypertensive retinopathy Anaemias, leukaemias HIV, infective endocarditis What are the causes for hard exudates? Diabetic retinopathy Hypertensive retinopathy What are the causes of hypertension? 90% are essential hypertension 10% are secondary o Renal causes – Chronic renal disease, polycystic kidneys, renal artery stenosis o Endocrine – Cushing‟s, Acromegaly, Phaechromocytoma, Conn‟s, hyperparathyroidism o Others – Coaractation, OCP usage, pre-eclampsia, polycythaemia How would you investigate a patient with hypertension? Urea and electrolytes Urine for protein, glucose and cast Fasting lipids and glucose ECG, CXR If indicated clinically, ie Young hypertensive 2 antihypertensive Sudden deterioration in control of BP Features suggestive of secondary causes on clinical examination How would you manage? Lifestyle- Exercise, eat healthily, stop smoking Pharmocotherapy

196

90. Optic atrophy Examination Fundus o Papilloedema o Optic cup (Glaucoma) o DM changes o Retinitis pigmentosa o Attenuated arterioles and veins as in CRAO Eye o RAPD (MS) o Argyll-Robertson pupil o INO (MS) o Nystagmus (MS and FA) Head o Tender temporal arteritis o Pb lines in the gums o Paget‟s facies Hands o Cerebellar o AF Presentation Sir, this patient has unilateral/bilateral optic atrophy. On examination of his fundus, I did not detect any presence of papilloedema, deep optic cup, DM changes or RP. The vessels are also not attenuated. I would like to complete the examination by testing patient‟s visual acuity and visual fields as well as for features of MS with RAPD, INO, nystagmus/cerebellar signs, palpate the temporal artery and examine the gums for Pb lines and pulse for AF

197

Questions What are your differential diagnoses? Unilateral o Demyelinating disease o Compression (Tumor, aneurysm, Paget‟s) o Glaucoma o Ischaemic Thromboembolic Vasculitis – temporal arteritis, tertiary syphilis Bilateral o Toxic Nicotine, alcohol Drugs (ethambutol, chloroquine, methanol, Pb, Arsenic) o Metabolic B12 deficiency, B1 and B6 Diabetes mellitus o Hereditary FA Leber‟s (mitochondrial dz with pt mutations) DIDMOAD (DI, DM, Optic atrophy, Deafness) – rare recessive o Others sec to papilloedema sec to retinitis pigmentosa How do patients present? o Reduction in visual acuity What would you find on visual filed testing? o Central scotoma What is Leber‟s optic atrophy or Leber‟s hereditary optic neuropathy (LHON)? o Hereditary condition affecting males o Progressive visual loss o Onset form second decade onwards o Mitochondrial disease with point mutations What investigations would you do? o Electroretinography and pattern evoked visual response o Blood test Blood glucose ESR VDRL B12 levels o Imaging SXR – enlarged sella turcica – pit tumor CT scan – SOL MRI – demyelinating disease o (History for toxic and hereditary causes)

198

91. Papilloedema Examination On noticing papilloedema Attempt to identify the different stages of papilloedema present Increase in venous calibre and tortusity Optic cup pinker with disappearance of vessels over the disc Disc is suffused and slightly elevated with blurring of margins; optic cup is filled and presence of haemorrhages around the disc Look at the retina Features of hypertension (flame-shaped haemorrhages, cotton wool spots and hard exudates) Features of CRVO (heamorrhages) Severe anaemia (haemorrhages) Check for Pallor (severe anaemia) Obvious proptosis Grave‟s ophthalmopathy Cavernous sinus thrombosis Spectacles (for hypermetropia) Requests to examine the other eye if told to examine one eye only (bilateral papilloedema vs Foster-Kennedy syndrome) Requests VA Visual fields Color testing Pupillary reflex (may not be possible if dilated) Eye movements Pain on eye movements VI nerve palsy Palpate the temporal region if elderly for tenderness (temporal arteritis) Blood pressure Presentation Sir, this patient has papilloedema affecting his right eye as evidenced by a suffused and slightly elevated optic disc associated with blurring of the disc margins with filling in of the optic cup and dilated tortuos veins. There was no evidenced of hypertensive retinopathy such as silverwiring of the blood vessels, arterio-venous nipping, flamedshaped haemorrhages or exudates. I could not detect any haemorrhages on the retina to suggest severe aneamia or CRVO. I noticed that there was no conjunctival pallor and no obvious proptosis of the eye. I would like to complete my examination by examining the other eye for features of papilloedema or optic atrophy; checking his blood pressure; testing his VA and VF and asking him about color vision loss; eye movements for VI nerve palsy and pain on eye movement as well as RAPD. Questions What are the differential diagnoses of optic nerve swelling? Papilloedema Papillitis Ischaemic optic neuropathy Pseudopapilloedema Hypermetropia (margins is blurred) Drusen (yellowish-white deposits at the optic disc) Myelinated nerve fibres Bergmeister‟s papilla (whitish elevation of the center of disc; common, seen in all ages, races and equal sex distribution) How do you differentiate beteween papilloedema and pseudopilloedema? Fundal fluroscein angiography What are the differences between papilloedema and papillitis? Papilloedema Papillitis VA Preserved Reduced VF Enlargement of blind spot; loss of Central scotoma peripheral vision Color testing Normal Loss of red Pupillary reflex Not affected RAPD Eye movements No pain on movements Pain on movement Others Bilateral Unilateral Absent of venous pulsation Venous pulsations present *Retrobulbar neuritis presents exactly like papillitis without the optic nerve head swelling appearance

199

What are the causes of papilloedema? (6) Space Occupying lesion Malignancy – SOL tumor Abscess Hematoma Hydrocephalus Obstructive (ventricle, aqueduct, outlet to 4th ventricle) Communicative Increased CSF formation (rare – Choriod plexus papilloma) Reduced CSF absorption Meningitis SAH Benign intracranial hypertension Idiopathic Addison‟s disease Drugs – Nitrofurantoin, tetracycline, vit A, steroids, OCPs Hypertension CRVO Others(3s) Metabolic Hypoparathyroidsm CO2 retention Graves congestive ophthalomopathy Hamotological Severe anaemia Polycythaemia rubra vera/leukaemia/Multiple myeloma Sagittal/caverbous sinus thrombosis Sarcoid GBS (impaired CSF absorption due to elevated protein content) Paget‟s disease, Hurler‟s syndrome What are the stages of papilloedema? Stage 1 – increase in venous size and tortousity with loss of venous pulsation Stage 2 – Optic cup is pinker and less distinct with disappearance of vessels over the disc Stage 3 – Blurring of the disc on the nasal side Stage 4 – Disc is suffused and elevated with blurred margins, optic cup filled in and haemorrhages around the disc What is ischaemic optic neuropathy? Ischaemia to optic nerve head from arteriolar sclerosis or temporal arteritis Elderly with sudden visual loss Swollen optic disc What is Foster-Kennedy Syndrome? Characterised by papilloedema in one eye and optic atrophy in the other eye Caused by a tumor of the frontal lobe, classically subfrontal olfactory groove meningioma Results in optic atrophy due to compression of that optic nerve by the tumor and papilloedema in the contralateral eye from raised ICP Look for features of NPH and loss of smell What is Benign intracranial hypertension? Dandy‟s diagnostic criteria Patient is alert Clinical features of raised ICP No localising signs except VI CN palsy LP opening pressure >20cm H2O and CSF composition normal Normal ventricle size and normal CT head Management Discontinue drugs, weight loss Diuretics, carbonic anhydrase inhibitors Serial LPs or lumbopertoneal shunt Optic nerve fenestration or subtemporal decompression

200

92. Central and Branch Retinal Vein Occlusion Presentation Central Retinal Vein Occlusion Sir, this patient has got central retinal vein occlusion affecting the right eye as evidenced by grossly tortuous and engorged retinal veins, especially near the disc. There are also numerous haemorrhages seen scattered all over the retina of varying shape and sizes with presence of cotton wool spots (blood and thunder appearance). There is also papilloedema. There is no evidence of rubeosis irdis. The left eye is unaffected but has presence of hypertensive retinopathy grade 2 with silver wiring and irregular retinal arterioles associated with arteriovenous nipping. (Look for causes for in the other eye eg hypertensive or diabetic changes) I would like to complete my examination by VA and Visual fields Checking her BP Urine dipstick for glycosuria Urine for Bence Jones protein for multiple myeloma Look for LNs and hepatosplenomegaly, bruising and purpura for macroglobulinaemia Ask about h/o of glaucoma or use of OCPs (in females of reproductive age group) Branch Retinal Vein Occlusion Sir, this patient has a branch retinal vein occlusion affecting the superior/inferior temporal/nasal vein in his right eye as evidenced by a fan-shaped distribution of retinal flame-shaped haemorrhages with cotton wool spots which radiate from the arteriovenous crossings. These changes have affected the macula of the right eye. There is presence of hypertensive changes of grade 2 with silver wiring and irregular retinal arterioles with arteriovenous nipping. There is no exudates noted and the disc margins are sharp. I would like to complete my examination by Checking his VA (normal unless affecting the macula) and VF (nomal or presence of a quandrantonopic fieled loss) Blood pressure Urine dipstick for glycosuria Questions What are the vessels that are involved in retinal vein occlusion? CRVO – central retinal vein (occlusion is behind the cribiform plate) BRVO – in front on the cribiform plate o Most commonly the superior temporal retinal vein o Followed by inferior temporal retinal veins o The nasal retinal veins How do patients present? CRVO Diminished visual acuity – to counting fingers (incomplete loss) Reduced visual fields Floaters Acute secondary glaucoma 3 months later from rubeosis irdis from an ischaemic retina Although retinal changes may improve in weeks, VA fails to be restored BRVO VA normal unless macula affected Can have sudden visual loss if there is vitreous haemorrhage Normal VF or monocular quadrantic field defect Floaters How do you differentiate between CRVO and papilloedema? CRVO has reduced VA whereas papilloedema affected only in late stages CRVO unilateral involvement in contrast to papilloedema What are the usual sites of occlusions in BRVO AV crossings Along the main veins (DM) Edges of the optic disc, resulting in hemispheric involvement Peripherally as in sickle cell disease

201

What are the causes of retinal vein occlusion? CRVO o Hypertension o Diabetes mellitus o Glaucoma o Hyperviscosity syndrome Waldenstrom‟s macroglobulinaemia Multiple myeloma OCPs BRVO o Diabetes mellitus o Hypertension o Need to differentiate with retinal vasculitis How would you investigate? CRVO BP Fasting blood glucose Screen for glaucoma Screen for multiple myeloma (BJ proteins) and macroglobulinaemia Enquire regarding OCPs and stop with alternate use of contraceptive methods BRVO o BP o Fasting blood glucose, urine dipstick o ESR, CRP and ANA and ANCA for vasculitis How would you manage this patient? CRVO o Identify causes and risk factors and correct or treat them o Fluoroscein angiography to identify areas of retinal ischaemia o Panretinal photocoagulation to prevent rubeotic glaucoma BRVO o Identify and treat causes and risk factors o Fluoroscein angiography to identify areas of retinal ischaemia o Laser photocoagulation may be necessary to ablate damaged vessels if there is macular edema or risk of vitreous haemorrhages from abnormal new vessels What is the prognosis? CRVO o Mild to severe o Mild cases, asymptomatic o In severe cases, markedly reduced VA to counting fingers with complications of neovascularisation of the retina, rubeosis iridis(1 month) and robeotic glaucoma (3 months) BRVO o Mostly asymptomatic o Macula affected with VA loss but can recover o Occassionally leads to gradual visual loss

202

93. Central Retinal Artery Occlusion Presentation Sir, this patient has a right sided CRAO on fundoscopy as evidenced by RAPD Pale retina Foveola cherry red spot Attenuated retinal vessels Intra-arterial emboli (10-20%) I did not notice any laser scar marks to suggest laser panretinal photocoagulation and there are no complications of rubeosis iridis Complete the examination Visual acuity Pulse (AF), DM dermopathy, xanthelasma, BP Palpate the temporal area for tenderness in GCA Questions What is the epidemiology of CRAO? 1 in 10 000 Male 2X Unilateral in 99% How do patients present? Sudden, painless visual loss (counting fingers to light perception) 10% has a history of amaurosis fugax – TIA affecting the retinal artery and lasting for minutes and classically described as a loss of vision in a curtain descending fashion Significant cardiovascular risk factors What are the causes? Emboli (Hollenhorst plague = cholesterol embolus within the arteriole) Arteritis (GCA, SLE, PAN) Why is there a “Cherry red spot”? Ischaemia of the retina at the posterior pole renders the retina pale, white and milky; thus the choroid is seen through the fovea as a cherry red spot How would you manage? No effective treatment o Within 100mins, severe retinal cell injury o Total irreversible damage occurs 4 hrs after onset Within 48 hrs, may attempt o Digital massage for at least 15 mins to dislodge any emboli o Administration of carbogen therapy (95% O2 and 5% CO2) o Medications to lower intraocular pressure (IV acetazolamide) o Anterior chamber paracentesis Laser panretinal photocoagulation to reduce risk of progression to neovascular glaucoma Manage cardiovascular risk factors o DM, hypt, lipids, smoking o Echo and USS carotids o Antiplatelets What are the differential diagnoses for sudden painless loss of vision? CRAO CRVO Retinal detachment Submacular haemorrhage form age-related macular degeneration Vitreous haemorrhage commonly from DM retinopathy

203

94. Retinitis Pigmentosa Examination Upon noting the pigmented bony spicules at the eye peripheries Macular edema or bull‟s-eye maculopathy Attenuated arterioles Way pallor of the optic disc Cataracts External ophthalmoplegia Ptosis Deafness Hands for polydactyly Sallow appearance for renal impairment Short Stature Presentation (think in terms of 3s) Sir, this patient has retinitis pigmentosa as there are bony spiculated pigmentation on the peripheries of the retina bilaterally. This is not associated with any macular edema or bull‟s eye maculopathy, attenuated arterioles or a waxy pale optic disc. I also noted that the patient has cataracts, which maybe associated with retinitis pigmentosa. There is no ptosis that I noted and the patient is not sallow in appearance and does not have short stature. I would like to complete the examination by examining his visual field and acuity, enquire about night blindness and assess eye movements to look for external ophthalmoplegia. I would also liked to screen for deafness as well as examine his hands for polydactyly and his limbs for spinocerebellar degeneration. Questions What is retinitis pigmentosa? It is a dystrophy of the photoreceptors and pigment epithelium with an incidence of 1 in 4000. Occurs bilaterally and begins in childhood or young adults with a progressive course. What is the mode of inheritance? 9% X linked, 16% is AR and 22% is AD; the rest or approx 50% is sporadic. What are the clinical features of RP? Commoner rod-cone type o Ring scotoma, o Peripheral visual field loss, tunnel vision o Night blindness Cone-rod type o Visual acuity loss o Loss of color discrimination o Day vision problems What are the causes of RP? Primary where no known cause Secondary to inflammatory retinitis Associated with other syndromes o Usher‟s syndrome (RP with hearing loss) o Alport‟s syndrome (RP with hearing loss and nephritis) o Refsum‟s disease (RP with deafness, hypertrophic peripheral neuropathy and cerbellar ataxia- it is a phytanic acid storage disease) o Abetalipoproteinaemia (RP, with fat malabsorption and spinocerebellar degeneration) o Friederich‟s ataxia o Kearnes Sayre Syndrome (RP with ext ophthalmoplegia, ptosis and heart block) o Laurence-Moon-Biedl Syndrome (RP with short stature, polydactyly, renal dysfn) What are the associated ocular abnormalities? Posterior subcapsular cataracts, Myopia, Keratoconus, Open angle glaucoma How would you Ix? Careful FHx and rule out phenothiazine toxicity Formal visual fields testing, color testing (Ishihara charts) and electroretinogram (ERG) Ix if cause is suspected, eg, ECG for heart block in Kearnes Sayre syndrome, lipids and protein elctrophoresis for abetalipoproteinaemia, serum phytanic acid for Refsum‟s disease How would you manage? Education and counselling especially genetic counselling Impaired vision training and aids for ADLs and job retraining Medication such as high dose of Vit A which slow the progress of RP by 2% a year and acetazolamide for complications of cystoid macular edema.

204

95. Visual Field Defects Examination Stem statements o Examine visual fields o Examine eyes o Patient complain of knocking into objects General o Acromegaly o Hemiparesis o Dysphasia Visual fields o Introduce o Sit about an arm‟s length o “Can you see my whole face” o Test for gross VA – counting fingers (wear spectacles!) o Test for gross visual fields using finger movements as well as for visual inattention o Patient to cover his right eye with right hand and instructed to look straight into my left eye o Test using white hat pin from all quadrants o If single eye defect Proceed with fundoscopy BRAO, haemorrhages, chorioretinitis Optic atrophy, glaucoma, RP Possibilities Constricted field o Chronic papilloedema o Chronic glaucoma o Retinitis pigmentosa o Chorioretinitis o Hysteria (visual field does not widen as object is brought further away from the patient cf to organic cause) Scotoma (red hat pin) o Retinal haemorrhage or infarct (paracentral or peripheral scotomas) Does not cross the horizontal midline o Optic nerve (pale in atrophy, normal in retrobulbar neuritis and pink and swollen in papillitis) resulting in central scotomas Compression – tumor, aneurysm, Paget‟s Glaucoma Neuritis MS Ischaemic (C/BRAO, syphilis, temporal arteritis and idiopathic) Toxic (methanol, tobacco, Pb, arsenic) B12 defeiciency Hereditary – Friederich‟s ataxia, LHON Secondary to retinitis pigmentosa Altitudinal defects o Retina infarcts o Ischaemic optic neuropathy Totally blind in one eye o Retina o Optic nerve o If bilateral peripheral field loss Bilateral retinal lesion Bilateral optic nerve lesion o If bitemporal defect Upper> lower = inferior chaismal: Pituitary tumor, Suprasellar meningioma Lower > upper: Craniopharyngioma Other causes: Aneursym, Metastasis, glioma o If homonymous hemianopia (infarcts, haemorrhages or tumor) Left or right homonymous hemianopia = right or left lesion respectively Incongruous: Optic tract Congruous Upper quandrantonopia: Temporal lobe Lower quandrantonopia: Parietal lobe Macula sparing (test with a red hat pin): Occipital cortex No macula sparing: Optic radiation Note any DM dermopathy, xanthelasma and AF, hemiparesis

205

Presentation Sir this patient has A left/right o Eye blindness Unable to perceive light o Scotoma o Constricted visual field defect o Upper/lower, temporal/nasal field Bitemporal hemianopia o Mention any acromegalic features o Request to screen for hypopituitarism o Causes includes … (see above) o Investigate Lateral SXR enlarged sella turcica, calcification for cranipharingioma CT or MRI head Formal field perimetry Serum prolactin Left/right, upper/lower homonymous quandrantonopia Left or right homonymous hemianopia, incongruous or congruous, macula sparing o Mention obvious signs Hemiparesis Dysphasia (for right homonymous hemianopia) Visual inattention o Request for neurological examination for CVA and tumor o Look for CVA risk factors – DM dermopathy, xanthelasma, AF Tumor Cachexia, clubbing for metastatic disease o Ix CT head Formal field testing, perimetry

206

Other Eye Conditions 96. Visual Acuity Examine each eye with finger counting o If unable to do so, proceed with finger movement and then light perception o If able to do so, proceed with Snellen chart Determine unilateral or bilateral, acute or chronic Causes o Bilateral Acute – front (methyl alc poisoning) vs back( occipital lobe infarction trauma) o Bilateral chronic – glaucoma, cataracts, DM, bilateral nerve damage or compression) o Unilateral acute CRVO, CRAO, arteritis, non arteritic isch optic neuritis Retinal detachment Vitreous hemorrhage 97. Cataracts Causes o Systemic Senile cataracts DM In prroly controlled younf type 1 DM, can get snowflakes cataracts Hypoparathyroidism Drugs Steroids (>10mg/day of prednisolone > 1year) Chloroquine Chlorpromazine o Local Trauma to the eye Glaucoma Radiation o Hereditary Dystrophia myotonica (stellate) Wilson‟s diseae (sunflower cataracts) Refsum‟s disease 98. Nystagmus Rule out nystagmus at extremes of gaze which is physiological Obvious type of nystagmus o Pendular – congenital, macular disease o Rotatory only – central causes o Upbeat nystagmus (fast phase upwards) Upper brainstem – MS, stroke, Wernicke‟s ( triad of confusion, ophthalmoplegia and nystagmus, ataxia a/w Korsakoff‟s Psy) o Downbeat nystagmus Cervicomedullary junction – AC malformation, syringobulbia,MS o Ocular bobbing – pontine lesions Jerky nystagmus o Occurs at primary gaze (means central) Cerebellar Vestibular (MS or stroke) o Occurs on horizontal gaze Multidirectional gaze evoked nystagmus Central – cerebellar or vestibular Right or left horizontal gaze evoked nystagmus Central or Peripheral o Vestibular neuronitis, Meniere‟s o Ataxic nystagmus ie INO NB: To differentiate between central and peripheral, central is sustained and peripheral can be fatigued and often associated with severe vertigo

207

99. Pupillary defects Large pupil o Differential diagnoses RAPD III nerve palsy Holmes Adie pupil Unilateral Slow reaction to bright light and incomplete constriction to convergence Young women Reduced or absent reflexes Degeneration of ciliary ganglion Mydriatic drugs Sympathetic overdrive (drugs) Small pupil o Argyll Robertson pupil Characteristic Small (2mm), irregular pupils Absent light reflex Intact accommodation reflex Does not dilate with mydiatrics Sign of tertiary syphilis Begins unilaterally and involves both pupils with time (months to years) Pathophysiology unknown Differential diagnoses for light-near dissociation Syphilis DM Pituitary tumors Midbrain lesions Adie‟s tonic pupil Dystrophia myotonica Aberrant regeneration of CN III Familial amyloidosis o Horner‟s syndrome o Long Standing Adie‟s tonic pupil (initially large pupil) o DM o Encephailitis o Sarcoidosis o Lyme‟s disease o Parinaud‟s (triad of psuedo AG pupil, vertical gaze palsy and nystagmus on convergence and causes include MS, vascular and pinealoma)

208

100. History-taking Station Steps 1.

5 mins - Read carefully and prepare headings as in (2)

2.

12 mins – Examination itself a. Introduce, shake hands b. Are you comfortable? Positioning! c. “I understand from the GP letter that…” d. Past history, drug allergy e. Present complaints i. Address individual problems ii. Etiology and differential diagnoses iii. Associations of condition iv. Complications of disease and treatment v. Conditions that may affect treatment f. Women – Menstrual history, pregnancy g. Social history i. Work – job nature, boss, colleagues ii. Family – husband, children iii. Others – Church activities, exercise h. Family History i. Smoker, Alcoholic j. ICE – Ideas, Concerns and Expectations, Feelings

3.

2 mins – Wrap Up a. Any other significant things you would want to bring up b. Summarise c. Assure d. Management plan i. Investigations ii. Symptomatic treatment iii. Letter to employer iv. Arrange next consult with family and significant others v. Discuss the case with the consultant

4.

1 min – Gather your thoughts a. List patient‟s problems i. Medical ( Disease, associated conditions, side effects) ii. Social iii. Concerns b. What is the diagnosis or differential diagnoses for the presenting complains? c. Summarise

5.

5 mins – Discussion of case with examiners a. Answer the above (4) b. Investigations c. Management

209