UMS Medical Short Cases Records 1st Edition

Cheo, Jun, Lee, Shoban Medical Short Cases Record

Medical Short Cases Record

Cheo Seng Wee (Chief Editor)

Tan Yi Jun, Lee Hui Juin, Shoban Raj

1. Vulvular Heart Disease

2. Prosthetic Heart Valve

3. Bronchiectasis

4. Pleural Effusion

5. Thalassaemia

6. Chronic liver disease

7. Graves disease

8. Rheumatoid arthritis

9. Ankylosing spondylitis

10. Scleroderma

11. Parkinson Disease

12. Stroke

Publish Date : 11th

April, 2012


Case 1 : Valvular Heart Diseases

Presentation :

Sir, I would like to complete my examination with checking the peripheral signs of Aortic Regurgitation, check

the temperature chart, check fundus for Roth Spots, urine for hematuria. I would also like to measure the

blood pressure for her and I would expect a wide pulse pressure.

On general examination, this is a young lady who appears to be well and not in any forms of distress or pain.

She has no stigmata of infective endocarditis such as Janeway lesion, Osler nodes and splinter hemorrhages.

She has a regular pulse rate of 80 beats/minutes and collapsing in nature. No radio-radio, no radiofemoral

disease. She has no signs of anemia and not cyanotic. She has no signs to suggest heart failure as well, JVP is

not raised.

In the precodrium, there is no scar, no deformity. She has a displaced apex beat at left 6th

intercoastal space at

anterior axillary line. No parasternal heave, no thrills. On auscultation, first and second heart sound can be

heard. There is a grade 4 harsh pan-systolic murmur at mitral area radiating to axilla, accentuated by

expiration suggestive of Mitral Regurgitation. There is a grade 3 early diastolic murmur, best heart over the left

lower sternal edge that suggestive of Aortic Regurgitation. No loud P2 or gallop rhythm. Lung is clear. No

hepatomegaly.

In summary, this is a young lady with mitral regurgitation and aortic regurgitation most likely secondary to

chronic rheumatic heart disease and clinically not in heart failure. No signs of pulmonary hypertension or

infective endocarditis.

What are your differential diagnosis for multiple valvular heart lesions?

Chronic rheumatic heart disease, Infective endocarditis

Name other causes of collapsing pulse.

• Pregnancy

• Patent Ductus Arteriosus (PDA)

• Paget’s Disease

• Anemia

• Thyrotoxicosis

What are the peripheral signs of Aortic Regurgitation?

• Corrigan’s: visible vigorous neck pulsation

• Quincke’s: nail bed capillary pulsation

• De Musset’s: head nodding

• Duroziez’s: diastolic murmur proximal to femoral artery compression

• Traube’s: ‘pistol shot’ sound over the femoral arteries

• Muller’s sign – systolic pulsations of the uvula


What are investigations, would you like to do ?

• ECG

- MR: p-mitrale, atrial fibrillation and previous MI (Q wave)

- AR: Lateral T wave inversion

• CXR

- MR: Cardiomegaly, enlargement of the left atrium and pulmonary edema.

- AR: Cardiomegaly, widened mediastinum and pulmonary edema

• ECHO

- MR :

a. Severity: size/density of MR jet, LV dilatation and reduced EF

b. Cause: prolapse, vegetations, ruptured papillae and infarction

- AR:

a. Severity: LV ejection fraction and dimensions, root dimensions

b. Cause: intimal dissection flap or vegetation

How would you manage a patient with chronic Mitral regurgitation?

• Control rate if fast AF

• Anticoagulants are not indicated unless there is: a history of systemic embolism; a prosthetic mitral

valve, either xenograft or mechanical; additional mitral stenosis with a low output or AF.

• Diuretics are needed to reduce pulmonary venous congestion and LV preload.

• Afterload reduction with intravenous nitrates or nitroprusside is indicated in acute MR by helping to

reduce the regurgitant fraction and increase forward stroke volume. Afterload reduction in acute MR is

less successful than in aortic regurgitation. ACE inhibitors are used routinely but with little evidence of

their long-term benefit.

• In acute MR with chordal rupture and pulmonary oedema, a continuous positive airway pressure

(CPAP) mask or artifi cial ventilation and full monitoring as in cardiogenic shock may be necessary

• Infective endocarditis prophylaxis should be considered

How would you follow up a patient with aortic regurgitation and name the indication for aortic valve

replacement in such patient.

• All patients need antibiotic cover for dental or surgical procedures

• Long-acting nifedipine has been shown to delay the development of LV dysfunction in chronic aortic

regurgitation

• Indication for surgery

- Aortic valve should be replaced before LV dysfunction develops

- The indications are:

a. Symptoms of increasing dyspnea and LVF

b. Enlarging heart in CXR or ECHO

c. Infective endocarditis that does not responds to treatment


Case 2 : Prosthetic Valve

Presentation :

Sir, I would like to complete my examination with checking the peripheral signs of Aortic Regurgitation, check

the temperature chart, check fundus for Roth Spots and urine for hematuria. I would also like to measure the

blood pressure for him as well.

My patient is middle aged man lying comfortably propped up in bed at 45 degree supported by one pillow. He

is not cachexic, not pale, not jaundiced and not cyanosed. I can appreciate audible metallic click. Purpura

noted over the extremities (evidence of over warfarinization).

On peripheral examination, there is no evidences of infective endocarditis such as Osler nodes, Janeway lesion,

splinter hemorrhage, no clubbing, no needle marks. He has a regular pulse of 80beats/min, not collapsing in

nature, no radio-radio, no radio-femoral delay. JVP is not raised and no pedal edema.

In the precordium, there is a midline sternotomy scar measuring 15 cm. No chest wall deformity. Visible

pulsation appreciated all over the precordium. He is a displaced apex beat at left 6th

intercostal space, anterior

axillary line. No thrills, parasternal heave or palpable P2.

Upon auscultation, metallic first heart sound is heard and normal second heart sound. Metalic first heart

sound is best heard at the mitral area. No murmur. (Sometimes ESM heard – normal)

No basal crepitations. No hepatomegaly or splenomegaly.

In summary, this patient has metallic prosthetic mitral valve and clinically not in heart failure. He has signs to

suggest overwarfarinization. No evidence of IE.

What are the types of prosthetic valve

a. Mechanical valves

• Caged ball

• Tilting – disk

The valves are very durable, but have a higher thromboembolism rate than xenografts. Very occasionally a

patient or his or her partner may be disturbed by the audible valve clicks. The double tilting disc valves have

much better flow profiles than the Caged ball valve and have largely superseded it.

b. Bioprostheses

• Heterograft

• Homograft

Biological valves do not have as good long-term durability as mechanical valves and may need replacing at

about 8–10 years (mitral) or 10–15 years (aortic).


Common complications of prosthetic valve

• Valve dysfunction – leakage, dehiscence, obstruction

• Systemic thromboembolism – stroke

• Bleeding - warfarin

• Bacterial endocarditis

• Hemolysis

What are the considerations involved in choosing mechanical or bioprosthetic valve?

• A bioprosthesis is preferred in older patients and in patients in whom lifetime anticoagulation poses

important risks. This includes persons with clotting disorders, and gastrointestinal problems with the

potential for bleeding and persons who may not be able to comply with required anticoagulant

medication and follow-up testing.

• The major disadvantage of biologic prostheses is primary valve failure as a result of leaflet

degeneration, which limits their functional life span.

• Mechanical heart valves, which have greater durability than bioprosthetic valves, are usually preferred

in patients younger than 65 years without contraindications to long-term anticoagulation.

What are the signs suggestive of prosthetic valve infection?

• Change in their valve sounds

• New symptom, however vague: dyspnoea, night sweats, myalgia, anorexia.

• In mechanical valves the opening and closing sounds of either ball or disc should be clear and sharp,

not muffled. Vegetations may restrict ball or disc movement and muffle the relevant prosthetic sounds.

• Check ECG for PR interval prolongation (septal abscess).


Case 3 : Bronchiectasis

Presentation :

Sir, I would like to complete my examination by checking the temperature chart and sputum cup for this

patient. I would also like to ask for history of tuberculosis in the past.

On general examination, this is a middle aged man who appears to be well and not in respiratory distress

(Patients in exam are usually not in respiratory distress). He does not appears to be cachexic or in pain. He has

a respiratory rate of 16breaths/min.

In the periphery, he has grade 3 clubbing and nicotine stain. No evidence of HPOA. No evidence of CO2

retention as there is no palmar erythema, no flapping tremor, no bounding pulse. His pulse is regular. His JVP

is not raised, no conjunctiva pallor. No lower limb edema. No palpable cervical lymph nodes.

In the precodium, he has no evidence of mediastinal shifting as trachea is centra and apex beat is not deviated.

No chest deformity or scar noted. His chest expansion, vocal fremitus, vocal resonance appears to be equal on

both side. Percussion note is resonance in all lung field.

On auscultation, vesicular breath sound can be heard. There is presence of bilateral end-inspiratory coarse

crepitations. No prolonged expiratory phase/rhonchi. No loud P2.

In summary, this is a middle aged man with bronchiectasis and clinically not in respiratory distress. Most likely

etiology is pulmonary tuberculosis.

What are your differential diagnosis?

• Bronchiectasis

• Lung fibrosis

• Bronchogenic Carcinoma

• Chronic Lung abscess

What is Bronchiectasis ?

Chronic suppurative inflammation of the bronchi that results in permanent dilatation of the airways

What are the investigations you would like to do?

• Sputum for culture and cytology

• CXR – tramlines and ring shadows

• High Resolution CT Thorax - signet ring sign, thickened dilated bronchi larger than the adjacent

vascular bundle.


Causes of Bronchiectasis

• Congenital: Kartagener’s and cystic fibrosis

• Mechanical: bronchial carcinoma (suspect if localized bronchiectasis)

• Childhood infection: measles and TB

• Immune OVER activity: allergic bronchopulmonary aspergillosis (ABPA);

• Immune UNDER activity: hypogammaglobulinaemia

• Aspiration: chronic alcoholics and GORD

Treatment :

• Mainstay – physiotherapy

• A – Antibiotic

• B – Bronchiodilator

• C – Corticosteroid

• D – Drainage ( Postural Drainage)

• S – Surgery ( occasionally for localized disease)

Complication of bronchiectasis :

• Hemoptysis

• Cor pulmonale

• Secondary amyloidosis ( Dip urine for protein)

• Pneumonia

• Cerebral abscess

Management of hemoptysis in bronchiectasis :

• Medically : Transnexamic acid & mefenamic acid (mild)

• Bronchoscopy : Balloon tamponade, iced saline lavage, topical medications, laser therapy, and

electrocautery.

• If failed bronchoscopy, proceed to arteriographic embolization of bleeding sites (typically from a

bronchial artery) by an interventional radiology service.

• Lastly, surgical treatment by open lung surgery to resects it.


Case 4 : Pleural Effusion

Introduction :

A pleural fluid is fluid in the pleural space. There are 5 types of pleural effusions – exudates, transudates,

empyema, haemothorax, chylous thorax. 500 ml of fluid is needed for clinical detection.

Presentation :

Sir, this is a young man who is lying on the bed with 45 degree propped up. He is in respiratory distress as

evidence by usage of accessory muscles while breathing and is tachypnic with respiratory rate of 24 breaths

per minutes. He is on nasal prong with pulse oxymeter monitoring. Otherwise, his body build is moderate and

is pink.

On examination, he has no clubbing, no cyanosis, no nicotine staining, and no signs of CO2 retention such as

bounding pulse, palmar erythema and flapping tremor. He has no signs to suggest Horner’s syndrome, good

oral hygiene, no raised JVP and no ankle oedema.

In the chest has no scars, no deformity, no visible pulsation. He has evidence of mediastinal shifting with

trachea deviated to right. He has evidence of massive left sided pleural effusion as evidence by reduced chest

expansion, reduced tactile fremitus, stony dull on percussion, reduced air entry and reduced vocal resonance

over the left upper, middle and lower zone of the left lung.

No cervical lymphadenopathy and hepatomegaly noted. I would like to complete my examination by checking

the fever chart, sputum pot and do a bedside peak expiratory flow rate.

Besides, I would like to look for the underlying cause of this pleural effusion like cardiac failure, chronic liver

disease, hypothyroidism, rheumatoid arthritis and butterfly rash for SLE.

What is your provisional diagnosis?

Left sided massive pleural effusion most probably due to ?? and is SOB at rest.

What are your differentials for dullness over the left base of the lung?

• Pleural thickening

• Consolidation and collapse of lung

• Elevated diaphragm

How would you like to investigate this patient?

• I would order an erect PA CXR to look for obliteration of costophrenic angle and meniscus sign. 175ml

of pleural fluid is needed for it to detect PE in CXR.

• Pleural tap can be done and send for pleural analysis like gross appearance, cytology, clinical chemistry

like protein, glucose, pH, LDH, Amylase.

• If glucose <3.3mmol/L, pH<7.2, LDH (pleural:serum >0.6), it is suggestive of TB, malignancy, RA, SLE,

Empyema.


• In autoimmune disorders pleural fluid for RF, ANA and complement factors can be send. If pleural fluid

analysis is inconclusive, I would consider parietal pleural biopsy with Abram’s needle for

histopathological examination and mycobacterial culture.

What are the causes of pleural effusion?

Transudate Exudate

• Increase venous pressure – cardiac failure,

constrictive pericarditis, fluid overload

• Hypoproteinaemia – cirrhosis, nephrotic

syndrome, malabsorption

• Hypothyroidism

• Meigs’ syndrome (Ovarian fibroma and right

pleural effusion)

• Inflammatory – SLE, RA

• Malignancy – bronchogenic carcinoma,

malignant metastasis, lymphoma,

mesothelioma, lymphangitis carcinomatosis

• Infection – TB, pneumonia, pulmonary

infarction

How you differentiate between transudate and exudates?

• If Protein <25 g/L, it is transudate.

• If protein >35 g/L, it is exudates.

• If protein between 25 – 35 g/L, Light’s criteria is used.

Lights criteria for an exudates are applied:

• The ratio of pleural fluid to serum protein >0.5

• Ratio of pleural fluid to serum LDH >0.6

• Pleural fluid of serum LDH is 2/3 the upper normal limit for blood LDH levels.

How would you manage this patient?

• Treat the underlying cause.

• Drainage – removed <2L/24hours

• Pleurodesis by tetracycline, talc poweder, bleomycin

• Surgery if persistent collections and increase pleural thickness.

What are the conditions associated with bloody pleural fluid?

Malignancy, pulmonary embolism, tuberculosis, and trauma to the chest

What are the causes of exudates with negative cytological findings and pleural fluid lymphocytosis?

TB, malignancy, collagen vascular diseases.

What causes increase amylase of pleural fluid?

Pancreatitis, carcinoma, bacterial pneumonia, oesophageal ruptures.


Case 5 : Thalassaemia (Sabah very own ‘cystic fibrosis’)

Introduction :

The thalassaemias are a heterogeneous group of genetic disorders with defective synthesis of one or more

globin chains. In Malaysia, the most common types are the α and β thalassaemias. The β thalassaemias

together with its heterozygous interaction with HbE disease constitute the bulk of the patients’ load.

The East Malaysian state of Sabah had the most number of registered patients standing at 1,272 with the

Kadazan-Dusun ethnic group contributing almost half of these affected individuals.

History :

1. Pre and post transfusion – drop rate?

2. Dx as thallassaemia – where? When? By who? How? First presentation?

3. Blood transufusion – when start? How frequent? Usually where? Far from home- why? Recently

increase in frequency? Any acute reaction?

4. Start on desfo? When? Why- ferritin increase? How? Compliance? Follow up for desfo toxicity? Any

complication? Electricity prob?

5. Iron overload complication – growth retard, Bronze Diabetes, bone pain? When Dx? How? Mx?

6. Follow up(ANE & outpatient attendance) – echo? Bone scan? HIV, hep B Hep C screening?

7. Detail Family hx? Screen?

8. Social – financial problem? Transport problem? Child care problem?

9. Drugs – Vit C? compliance?

10. DIET changes? Increase calcium intake, decrease iron intake?

11. Bone marrow HLA compability

Presentation :

Sir, Muhammad is a 10-year-old boy with pallor and slate gray skin. He has evidence of extramedullary

hemopoesis as evidenced by frontal bossing and maxillary overgrowth. His height and weight appears to be

small for his age and I would like to confirm it by plotting on the growth chart.

On peripheral examination, he has no evidence of chronic liver disease such as leuconychia, palmar erythema,

flapping tremor or bruising. He has conjunctival pallor and tinge of jaundice noted. His oral hygiene appears to

be appropriate.

On inspection of the abdomen, there are multiple injection sites. There is fullness over the right and left

hypochondrium region too. Otherwise, abdomen moves with respiration, umbilicus centrally located and flat.

No visible peristalsis, no dilated veins, no surgical scars, hernia orifices are intact. Abdominal palpation

revealed that there is hepatosplenomegaly with and 8cm liver below left subcostal margin. The liver moves

with repiration, smooth surface, non tender, non pulsatile, well defined margin, firm in consistency, dull on

percussion and no bruit heard. He has a 10cm spleen below left subcostal margin, which move inferior

medially with respiration, cannot get above it, with a splenic notch felt, dull on percussion and splenic rubs


heard. No ballotable kidney and no free fluid in the abdomen. Bowel sounds present. There are no cervical or

inguinal lymphadenopathies.

I would like to complete my examination by checking the cardiovascular system for gallop rhythm and lung

basal crackles, do a Tanner staging, check his plasma glucose level and ask for family history of

hemoglobinopathies.

What is your provisional diagnosis?

These findings are in keeping with a diagnosis of chronic hemolytic anemia most likely Beta Thalassaemia

major, currently anaemic and complicated with iron overload.

Differential for hepatosplenomegaly

• Liver Cirrhosis with portal hypertension

• Hematological disorders – myelo/lymphoproliferative disorders

• Infection – infectious mononucleosis, acute viral hepatitis, CMV

• Connective tissue disease

• Infiltrative – amyloidosis

How do you approach a patient present with you with anaemia?


What are the investigations you would like to do for her?

• First, I would like to confirm the diagnosis first, by doing FBC to look for microcytic hypochromic

anaemia, PBF to look for marked anisocytosis, poikilocytosis (including fragments and tear-drop

poikilocytes), hypochromia and microcytosis. Basophilic stippling, Pappenheimer bodies and target

cells.

• Circulating nucleated red cells showing defective haemoglobinisation and dyserythropoietic features

are present. The total white cell count and the neutrophil count might be increased. If hypersplenism

develops, there is leucopaenia, neutropaenia and thrombocytopaenia.

• I would also like to do Hemoglobin electrophoresis. A HbF >90% and complete absence of HbA will

confirm him as Thalasaemia major. This must be done before initiation of blood transfusion.

How would you differentiate between iron deficiency anaemia and Thallasaemia from the result of FBC?

• I would like to use Mentzer index, which is product of MCV divided by RBC. If less than 13, it is

suggestive of Thalasaemia. If more than 13, it is suggestive of IDA.

• In iron deficiency, the marrow cannot produce as many RBCs and they are small (microcytic), so the

RBC count will be low along with the MCV, and as a result, Mentzer's index is not as low, >13

• Comparatively, in thalassemia, which is a disorder of globin synthesis, RBC production is preserved, but

the cells are smaller and more fragile. Therefore, the RBC count is normal with a low MCV and the

Mentzer's index is <13.

What are the HbA2 level in beta Thallasaemia trait?

In heterozygosity or severe thallasaemia trait, HbA2 will be 4 – 9% while mild thallasaemia trait, the HbA2

would be 3.6% to 4.2 %.

How you manage this case before first transfusion?


How you going to manage during routine admission for blood transfusion?

• First, I would like to measure his height, weight, liver and spleen size.

• Pretransfusion Hb, platelet count, post transfusion Hb (half an hour after transfusion) is done.

• Aim pre transfusion Hb 9 -10 g/dL and post transfusion Hb 12-12.5 g/dL.

• 3 to 6 monthly check the serum ferritin, liver function test and evaluate growth and development.

• Every year or more frequent, endocrine assessment – RBS, T4/TSH, Ca PO4, Vit D, PTH level

• Pubertal and sexual development from 10 years onwards,

• Tanner staging for breast and genitalia

• Check the FSH, LH, oestradiol or testosterone level.

• Infection screen – HIV, Hepatitis B, Hepatitis C, VDRL.

• Calculate transfusion indices – volume of pure RBD transfused/ median weight).

• Evaluate iron balance – liver iron assessment.

• Bone – osteoporosis and skeletal abnormalities.

• Cardiac assessment at variable intervals especially after 10 years of age – yearly ECG, annual cardiac

echography and cardiac T2*MRI

What are the long term complications of blood transfusion?

• In chronic iron overload, endocrine – puberty delay, growth retardation, hypothyroidism,

hypoparathyroidism, diabetes mellitus.

• Cardiac – arrhythmias, pericarditis, cardiac failure.

• Liver – liver cirrhosis.


What will you advice to the patient regarding his daily activities?

I would advise him to avoid contact sports like football that may injure his spleen, causing splenic rupture.

When will you consider splenectomy and what are the anticipate complication?

I would opt for splenectomy if the transfusion rate has increased to 200-250 ml/kg/year (normally 180

ml/kg/year), evidence of hypersplenism, or massive spleen causing discomfort, risk of infarct and splenic

rupture due to trauma.

Complication would be sepsis (OPSI- overwhelming post splenectomy infection), especially by encapsulated

bacteria like Streptococcal pneumonia, Hemophilus Influenza and Neisseria Gonorrhea. Immunoprophylaxis

and chemoprophylaxis can be given.

Besides, Thromboembolic phenomenon is common more in Thallasaemia media and antithrombotic agent can

be given.

Post-splenectomy thrombocytosis is a known complication and the use of low dose aspirin or dypyridamole if

platelet count is more than 800 x 10^9/L may be considered.

When would you start chelation therapy?

It is started when there is >10 units of blood transfusion or ferritin level has increased up to 1000 ng/mL for

more than two occasions two weeks apart.

What are the dietary advice for this patient?

I will give him folate at minimum 1mg OD, low dose Vitamin C and Vitamin E. I would ask him to avoid iron rich

food such as red meat and iron fortified cereals and milk. Avoid tea as it may decrease intenstinal iron

absorption.

Would you recommend him for bone marrow transplant?

NO. It depends on the 3 risk groups, hepatomegaly, iron chelation status and liver fibrosis. This patient has at

least 2 risks including hepatomegaly and bad iron chelation status and hence has less success rate in BMT.

What are the non-invasive ways of estimating tissue iron overload?

Cardiac MRI T2*, Liver MRI R2/ferriscan

How will you advice your female thalassaemia patient who plan to get pregnant?

With advances in hypertransfusion and iron chelation, some women with beta thalassemia major have had

favorable pregnancy outcomes. However, such pregnancies are recommended only in those with normal

cardiac function and adequate hypertransfusion and iron chelation regimens.

Genetic counseling is strongly advised, since these mothers will be transmitting a thalassemic gene to all of

their offspring, and partnership with a male with beta thalassemia may lead to beta thalassemia major in their

offspring.


Who should receive Hematopoietic cell transplantation (HCT) transplant?

In preparation for possible HCT, all children with BTM receive treatment with a hypertransfusion protocol

along with iron chelation therapy (Grade 1A).

For a child with BTM who has an HLA-matched sibling or HLA-matched unrelated donor and who has

undergone rigorous medical therapy (ie, transfusion plus high-quality iron chelation therapy), we recommend

that HCT be performed as soon as is reasonably practical (Grade 1A).

For those without an HLA-matched donor, children with prior poorly-controlled chelation therapy, and adults,

transplant-related mortality can be as high as 35 to 50 percent. The risks and benefits of undergoing either

curative HCT (with its high incidence of transplant-related mortality), or continuing with non-curative medical

therapy (life-long transfusions and chelation therapy) are very patient specific, and a decision favoring one

over the other should be made on a case-by-case basis, depending upon the values and preferences of the

patient/family.

What is the PBF picture of a thalassemia major patient?

Anisocytosis, poikilocytosis, hypochromia, microcytosis, target cells.

What is the PBF picture of a post splenectomy patient?

Howell-Jolly bodies, thrombocytosis, pappenheimer bodies.


What are the difference types of chelation therapy?


Case 6 : Chronic liver disease

Introduction:

Cirrhosis is defined pathologically as fibrosis and abnormal regenerating nodule of liver

Presentation:

Sir, I would like to complete my examination by checking the external genitalia of this patient, do a per rectal

examination and take a good history from this patient.

This is a middle age gentlemen who appears to be well with average built and obvious tattoo mark over both

arm. There are signs of chronic liver disease such as palmar erythema, jaundice, loss of axillary hair and spider

naevi, otherwise there is no clubbing, no duputryen contracture, no hepatic flap, no injection mark, no parotid

enlargement, and no gynaecomastia.

On inspection of the abdomen, there is no scar, no dilated vein. Abdomen is flat and umbilicus is centrally

located and move with respiration. On palpation, there is no hepatomegally but traube’s space is dull

suggestive of splenomagaly. There is also evidence of ascites with presence of shifting dullness and fluid thrill.

Bowel sound are heard with no bruit.

In summary, this gentlemen has chronic liver disease most probably due to hepatitis infection and in

decompensated state with presence of ascites but no encephalopathy.

Causes of chronic liver disease:

1. Chronic alcohol ingestion

2. Viral hepatitis

3. Drug: methotrexate, methyldopa

4. Autoimmune hepatitis

5. Wilson disease

6. Primary biliary cirrhosis

7. Alfa 1-antitrypsin deficiency

8. Hemachromatosis

Investigation:

I would like to check full blood count because patient is prone to anemia due to gastrointestinal bleeding,

folate deficiency, or hypersplenism. Liver function test and coagulation profile to check synthetic function of

liver (albumin and APTT). Investigation for the causes of chronic liver disease: hepatitis screening (HbsAg,

HbeAg, anti core antibody, anti-HCV), autoimmune hepatitis screening (antinuclear antibody, anti liver-kidney

microsomal antibody, anti smooth muscle antibody), antimitochondria antibody (for primary biliary cirrhosis),

Wilson disease ( low serum ceruloplasmin and increase 24 hours urine copper secretion, serum protein

electrophoresis for alfa-antitrypsin, serum alfa-feto protein and hepatobiliary system ultrasound. Ascitic fluid

tapping and send for analysis.


Management:

Treat the complication and causes. Treatment for variceal bleeding: resuscitate patient, wide bore needle

insertion and cross match blood. Blood transfusion or use fluid resuscitation while awaiting blood, intravenous

proton pump inhibitor, early endoscopy to indentify bleeding site and treat with endoscopic sclerotherapy

with octreotide or ligation. If severe bleeding may use sangstaken blackmoore tube for temporary stopping

bleeding. Surgery by mean of transjugular intrahepatic portosystemic stent shunt can temporarily reduce the

portal pressure. Definitive is liver transplant.

Complication of chronic liver disease :

Portal hypertension (hepatorenl syndrome, variceal bleeding), hepatoma, ascites, infection eg spontaneous

bacterial peritonitis, hepatic encephalopathy, coagulopathy

Precipitating factor of hepatic encephalopathy :

Hemorrhage, electrolyte imbalance, protein diet, alcohol, trauma, infection, constipation, surgery (HEPATICS)

How to grade encephalopathy?


How to assess severity of cirrhosis?


Case 7 : Graves disease :

Introduction:

Graves’ disease is autoimmune disease with presence of thyroid stimulating antibodies which bind and

stimulate the receptor. This antibody is found in 90% of patient. Patient will present with hyperthyroid, goiter,

eyes sig, thyroid acropachy and pretibia myxoedema. Commoner in females (9:1). Associated with other

autoimmune disease.

Presentation:

This is a young lady who sits comfortably on chair appears well with appropriate attire, thin and not irritable.

There is a diffuse thyroid swelling which move with deglutition and not with protrusion of tongue. The swelling

is butterfly in shape measuring 10 x 15cm, smooth surface, well define margin, soft in consistency with lower

border can be appreciated. The mass is non tender, no increase temperature, no bruit, and not attach to

overlying or underlying structure. Otherwise, tracheal is not deviated, carotid pulse can be felt and no cervical

lymphadenopathy. There is no evidence of retrosternal exapansion.

On peripheral examination, the pulse rate is 100 beats per minute regularly regular. There is thyroid acropathy,

sweaty warm palm with tremor, exophthalmos, and brisk deep tendon reflex. Otherwise no opthalmoplegia,

no lids lag or lids retraction, no diplopia, no proximal muscle weakness, and no pretibial myxoedema.

I would like to complete my examination by checking the blood pressure, cardiovascular examination and

respiratory examination.

This lady has diffuse thyroid swelling most probably due to Graves’ disease and currently in hyperthyroid state.

Differential diagnosis for diffuse goiter :

1. Simple diffuse thyroid

2. Hashimoto thyroiditis

3. Subacute thyroiditis

Investigation:

I would like to check thyroid function test where I expect the TSH will be low and free T4 will be high. Thyroid

stimulating antibodies will be presence in 90% of patient. Neck ultrasound to determine solid or cystic

component of the mass.


Management:

There is three modality of treatment: medical, radioiodine and surgical. The antithyroid drugs are carbimazole

and propythiouracil which decrease thyroid peroxidase. Beta blocker eg: propranolol to control adrenergic

symptom and decrease peripheral conversion of T4-T3. Radiotherapy is treatment of choice when fail medical

treatment. Surgery is subtotal or total thyroidectomy.

WHO grading of goiter :

• Grade0: no palpable or visible thyroid

• Grade 1: palpable goiter(A), palpable and visible with neck extension (B)

• Grade 2: goiter visible at normal position

• Grade 3: large goiter visible from a distance

Indication for surgery :

Patient preferences, large goiter, fail medical treatment after trial of 2 years, non compliance, recurrent with

no radioiodine facility.

What are the complications of thyroidectomy?

• Immediate: hemorrhage, respiratory obstruction, hoarseness of voice due to recurrent laryngeal nerve

injury

• Early: infection

• Late: hypothyroidism, hyperthyroidism, hypoparathyroidism

How to manage thyroid storm?

• Precipitating factors: infection, surgery, trauma, myocardiac infarction

• Presentation: agitation, fever, tachycardia, atrial fibrilation, hepatic dysfunction

• Treatment: high mortality thus needs to admit to ICU. Give antithyroid drug, propythiouracil is

preferable because decrease peripheral conversion of T3-T4. Sodium iodine or lugol’s iodine to

decrease hormone releases, which give 1 hour after initial dose of antithyroid drug. Give IV

dexamethasone to decrease hormone release and peripheral conversion. Give IV propanolol if no

heart failure; oxygen, diuretic and digoxin if heart failure presence. Well hydration, tepid sponge with

antipyrexia. Remove or treat the underlying cause.


Case 8 : Rheumatoid Arthritis

Introduction :

RA is the most common inflammatory arthritis in women. The typical clinical phenotype of RA is a symmetrical,

deforming, small and large joint polyarthritis, often associated with systemic disturbance and extra-articular

disease.

Before the age of 45, the female : male ratio is 6:1. Prevalence increases with age, with 5% of women and 2%

of men over 55 years being affected.

Examination steps :

1. Greet but don’t shake the hand. Offer pillow to allow patient’s hand to put on it in prone position.

2. General – cushingoid facies, Weight, Eyes, Obvious joint deformity, Well

3. Look - Describe from distal to proximal or vice versa.

a. Nail – psoriatic nails, vasculitic changes, splinter hemorrhage (SLE), periungual telangiectasiae,

Raynauds phenomenon, pulp atrophy

b. PID, DIP - skin changes, swelling, subluxation, deformity –Swan neck and boutonniere deformity of

fingers, OA changes – Heberden’s nodes, Bouchard’s nodes,

Psoriatic plagues, Gottron’s papules, calcinosis

Thumb – squaring of thumb or Z deformity

c. MCP – skin changes, swelling, deformity – ulnar deviation, volar subluxation

d. Wrists – skin, scars, redness, atrophy, rash,

Tight shiny skin, prominent styloid

e. Palm – muscle wasting, skin - palmar erythema, scars, vasculitic changes, palmar creases for

anaemia, Raynaud’s phenomenon

4. Feel

a. Temperature? Tenderness?

b. Wrist – CRES sign! Crepitation, Range of movements, Effusions, Synovitis,

+ulnar styloid tenderness

c. MJP, PIP, DIP – CRES + subluxation

d. Palmar tendon crepitus


e. Carpal tunnel syndrome – Tinel’s sign

5. Active movement

a. Wrist flexion and extension

b. Abduction and adduction of thumb

c. Opposition of fingers

d. Prayer’s sign

e. Test for trigger finger – ask patient flex and extend finger

6. Hand function

a. Practical – button, key grip, scratch back

7. Complete –

a. PULSE!! – one important part of the hand

b. Elbow – psoriatic plagues, rheumatoid nodules

c. Face –

Eyes (episcleritis), scleromalacia, keratoconjunctivitis sicca, cataract (steroid)

Dry mouth,

TMJ crepitus,

Scalp – psoriasis over hairline or back of ear

Neck – ask patient flex neck and ask if presence of electrical shock wave suggestive of atlanto-axial

deformity

Precordium – Aortic/mitral regurgitation, Loud P2, pericardial rub

Lungs – Pleural rubs, Basal crackles – interstitial fibrosis, pneumonia

Abdomen – splenomegaly

Legs – ruptured baker’s cyst, ulcers (vasculitis), mononeuritis multiplex

Presentation:

Sir, this is a middle-aged lady sitting on the chair comfortably. She has Cushingnoid features as evidenced by

fullness over the supraclavicular fat pad and round face.

The patient has bilateral symmetrical deforming polyarthropathy affecting the metacarpal and interphalangeal

joints sparing the DIP and wrist joint. I noted volatile subluxation and ulnar deviation over MCP joint. The

significant deformities are swan neck deformities over the (which finger) and boutonnières deformity of

(fingers). I also see Z deformity over right thumb. There is skin thinning and I do not notice any rash or nail

changes such as pitting or ridging.

Over the palmar surface, there is thenar wasting and erythema of the palms. No vasculitic ulcers or raynauds

phenomenon noticed. No scars.

On palpation, there is no raise in temperature and tenderness. No crepitus, no swelling, no effusions over the

all wrist, MJP, PIP, DIP joints.

Active movements limited as patient unable to do prayers sign and opposition of fingers.

In terms of hand function, it is impaired as patient unable to button her clothes and do key grip.


I would like to complete my examination by… (Refer above)

Provisional diagnosis:

She has bilateral symmetrical deforming polyarthritis due to rheumatoid arthritis, currently in remission and

functional status is impaired.

Differential Diagnosis:

• Lupus arthritis

• Infective cause : dengue, lyme, rheumatic fever and other viral infection.

• Psoriatic arthritis

• Reactive arthritis

• Osteoarthritis

• Jaccoud arthropathy

How do you diagnose RA?

I would like to use the latest 2010 ARA/EULAR classification for RA. A score of >6/10 needed to classify definite

RA.

How do you investigate this patient?

For diagnosis purpose, I would like to check the rheumatoid factors, ACPA and acute phase reactants like ESR

and CRP.

On top of it, I would like to do FBC to look for anaemia, renal function test, liver function test, imaging of the

joints to look for progression of destruction of the joints, soft tissue swelling, juxta-articular osteopenia and

reduced joint spaces. USG (detect early stage) and MRI can identify synovitis more accurately.


What are the other causes that can cause RF to be positive?

• Rheumatic diseases – scleroderma, SLE, Sjogren’s, disease, MCTD

• Infections – bacterial endocarditis, syphilis, TB, hepatitis

• Lung – Interstitial fibrosis, chronic bronchitis, silicosis

• Liver cirrhosis, sarcoidosis

• Healthy people 1-2% increase with age

How would you manage this case?

• I would treat early disease aggressively as there is a window opportunity. My goals would be to relieve

symptoms, prevention of symptoms, preserve function, maintain lifestyles. There are two principles –

nonpharmacological and pharmacological.

• For the non-pharmacological part, I would opt for multidisciplinary approach and refer her to

physiotherapist, social workers, surgeon and occupation therapist.

• For the pharmacological part, I would relief her pain by giving her NSAIDS or COX 2 if severe GI

symptoms. However, I would be watch out for renal impairment, cardiac failure and uncontrolled

hypertension.

• Early DMARDS is helpful in stabilizing the disability but not reverse it. Examples include

hydrochloroquine, methotrexate, Sulphasalazine, Leflunomide.

• They take 6-12 weeks for symptomatic benefit.

• While waiting for DMARDS to work, steroid up to 7.5 mg can be given s=and stop gradually after 3 to 4

months. Intraarticular steroid can be used as adjunct too.

• If patient is resistant, TNF alpha inhibitors like etanercept, adalimumab or infliximab can be given.

However, before initiation of this, TB work out need to be done as it can reactivate TB. If she is positive,

treat her as latent TB by giving isoniazide and start biological agent after 1 month of isoniazide.

• In seropositive arthritis, never stop biological agent once it is started.

What are the common side effects of DMARDS?

• Myelosuppresion leads to pancytopenia – regular FBC monitoring required.

• Methotrexate – pneumonitis(need baseline chest xray), oral ulcers, hepatotoxicity (give Folic acids as

supplement)

• Hydrochloroquine – irreversible retinopathy

• Sulfasalazine – Rash, reduce sperm count, oral ulcers

• Leflunomide – teratogenicity

How would you suggest this lady about the medication DMARDS if she wants to get pregnant?

• If she is on methtrexate, stop for 3 cycles before she conceived.

• If she is on Leflunomide, stop for 2 years.

• Other option would be ingestion of cholestryramine to wash out the drugs from blood.

• RA gets better with pregnancy and flare up after delivery.


What are the causes of anaemia in RA?

• RA can cause all 3 types of anemia :

• Microcytic (PUD 2 steroid/NASAIDS),

• Macrocytic (associated with pernicious anemia, autoimmune; folate deficiency secondary to

methotrexate)

• Normocytic (chronic disease, hypersplenism in felty, aplastic anemia 2 gold/penicilamine).

What are the pulmonary manifestations of RA?

The respiratory complications are listed from proximal to distal airway :

• Cricoarytenitis

• Bronchiolitis obliterans & organizing pneumonia (BOOP)

• Pulmonary fibrosis (MTX) / Pulmonary hypertension.

• Caplan nodules ( coal dust exposure).

• Pleural effusion.

What are ophthalmic manifestations in RA?

• Extraocular muscle (Mononeuritis multiplex, myasthenia 2 penicillamine)

• Sclera (Episcleritis, scleritis, scleromalacia perforans)

• Conjunctiva (Pallor, keratoconjunctivitis sicca 2 Sjogren syndrome)

• Lens & vitreous (Cataract & glaucoma 2 prolonged steroid)

• Fundus (Vasculitis, chloriquine – Bull’s eye maculopathy, gold retinopathy)

What are the neurological manifestations in RA?

• Peripheral neuropathy glove-and- stocking sensory loss

• Mononeuritis multiplex

• Entrapment neuropathy eg. Carpal tunnel syndrome

• Cervical disease or atlanto-axial subluxation causing cervical myelopathy

What are the dermatological manifestations in RA?

• Vasculitis (Small vessels – Palpable purpura, nail fold/digital infarct; Larger vessel – skin ulcer, digital

gangrene).

• Palmar erythema

• Rheumatoid nodules (20% patient @ olecranon process)

Raynaud’s phenomenon


Case 9 : Ankylosing Spondylitis :

Introduction :

Ankylosing spondylitis is one of the favourite exam cases in rheumatology. It is one of the four seronegative

arthritis. It is common in male with the ratio of 9 : 1. It is associated with HLA B27 antigen.

Examination steps :

1. Greet, seek permission, chaperone and expose the upper body of the patient.

2. Ask the patient to stand and walk from one end to the other end. Look for stoop posture and stiffness

when he walks.

3. Ask the patient lean against the wall. Measure the occiput to wall distance. Look for question mark

posture and lost of lumbar spine lordosis.

4. Ask the patient take a step forward. Do Schober’s test. Examine cervical and lumbar spine mobility

including flexion, extension, lateral flexion and lateral rotation. Feel for spinal tenderness.

5. Ask the patient sit down. Measure the chest expansion by measuring tape.

6. Inspect for red eye, ausculate the lung and heart. Look for psoriatic plaque to exclude psoriatic

arthropathy. Look for Achilles tendinitis and plantar fasciitis.

7. Lie the patient down. Examine for sacroiliac spine tenderness by doing Patrick’s test.

Presentation :

Sir, this is a middle age gentleman who appears to be well. He does not appear to be in respiratory distress or

in pain. He has a stoop posture and appears to be stiff when he walks.

He has a question mark posture and a positive occiput-to-wall test of 4cm. He is noted to have lost of lumbar

lordosis and his Scober’s test is positive.

In term of mobility, he has restricted flexion and extension of cervical and lumbar extension of approximately

0-10 degree. His lateral flexion and lateral rotation are fairly satisfactory. Otherwise, he has no spinal

tenderness. Patrick’s test is negative as well.

His chest expansion is restricted with 1cm expansion. Otherwise, he has no red eye to suggest anterior uveitis

or psoriatic plaque to suggest psoriatic arthropathy. Per auscultation, lung is clear and first and second heart

sound with no murmur heard. He also has no evidence of Achilles tendinitis and plantar fasciitis.

I would like to complete my examination by abdomen examination to look for hepatosplenomegaly, examine

the peripheral joints and genitalia to exclude possibility of Reiter’s disease. I would also like to ask the patient

for any history of chronic diarrhea or PR bleeding.

In summary, this is a middle age gentlemen with ankylosing spondylitis and functionally he has restricted

mobility of spine. There is no features to suggestive complications such as pulmonary fibrosis or aortic

regurgitation.


Differential diagnosis :

1. Psoriatic arthropathy

2. Reactive arthritis

3. Osteoarthritis of the spine

4. Enteropathic arthropathy

Investigation :

In term of investigation, I would like to do HLA B27 testing, ESR/CRP, spine x-ray and MRI spine if indicated.

HLA 27 is positive in 95% of the cases. However, HLA B27 is not diagnostic of AS. CRP or ESR level is important

in determining inflammatory activity in the patient. In the spine x-ray, I would look for sacroiliac joint

erosion/sclerosis, squaring of vertebral, ossifications of anterior longitudinal ligament, marginal

syndesmophytes and “bamboo” spine. MRI will be helpful if there is no changes on x-ray.

Management :

The primary goal of management for patients with AS is to maximize long term health-related quality of life.

The treatment aims are to get adequate pain relief, restoration of function, prevention and treatment of

complications.

The treatment options include non-pharmacological and pharmacological. Non-pharmacological treatment is

mainly rehabilitation to prevent joint stiffness and strengthening of the muscles. Pharmacological options

includes paracetamol and NSAIDs for pain relief, glucocorticoids to reduce inflammatory activity, DMARDS and

biological agents. Choices of DMARDS includes methotrexate and sulfasalazine whereas biological agents

includes infliximab, adalimumab, etanercepts.

What are the seronegative arthritis?

Ankylosing spondylitis, reactive arthritis, psoriatic arthritis and arthritis of inflammatory bowel disease.

What are the common features of seronegative arthritis?

They have oligoarthritis presentations, more commonly involve the lower limb and sacroiliac joints. There is

familial tendencies and RF is negative.

What are the complications of AS?

7 A’s of AS : Apical lung fibrosis, Aortic regurgitation, Achilles tendinitis, Anterior Uveitis, Amyloidosis,

Autoimmune bowel disease, Atlantoaxial subluxation.

How do you diagnose AS?

Most cases of AS can be diagnosed with history taking, clinical examination, simple blood tests and appropriate

X-rays. Currently, there is no universal criteria to diagnose AS. There is criterias to diagnose

spondyloarthropathy which is Assessment of SpondyloArthritis International Society (ASAS) criteria.

What are the features suggestive of inflammatory back pain?


What is the natural history of AS?

About 40% go on to develop severe spinal restriction, about 20% have significant disability, early peripheral

joint disease, particularly of the hip indicates a poor prognosis.

How do you evaluate the patient of AS?

• Patient self assessment of pain (1-10)

• Bath Ankylosing Spondylitis Disease Activity index (BASDAI)

• Daily activities that are limited by disease

• Physician's global assessment on a scale of 1 (mild) to 4 (severe)

• ESR or CRP


Case 10 : Scleroderma :

Introduction :

Scleroderma encompasses a spectrum of related disorders, most of which share a characteristic clinical feature

of skin thickening due to an excess of collagen fibers.

Exam Stems :

In the exam, the common stem given is “Do a general examination and proceed”.

Examination Steps :

1. Start with hands. Look for pulp atrophy, Raynaud’s phenomenon, sclerodactyly, finger tip ulcer,

calcinosis, vasculitis. Examine the hand for joint pain, swelling and movement.

2. Look for telangiectasia. Pinch the skin up and below elbow joint.

3. Look for evidence of proximal myopathy.

4. Look at the face. Demonstrate microstomia by insertion of 3 fingers. Look for perioral furrowing, bird

beak nose, pursed lips

5. Auscultate the lung and heart.

6. Look for proximal myopathy in leg and leg ulcers.

Presentation :

Sir, this is middle-aged lady who appears to be well, not in respiratory distress or in pain. She has typical

features of scleroderma with shinny skin, perioral furrowing and microstomia.

In the hand, she has finger pulp atrophy, sclerodactyly and telangietasia. However, there is no evidence of

Raynaud’s phenomenon, calcinosis, finger tip ulcer and vasculitis. Skin tightness extends above the elbow.

Besides, she also has fixed flexion deformity of her fingers but no joint pain or swelling noted. Functionally, she

has restricted movement of her hands.

She has no evidence of proximal myopathy with full muscle power of both upper and lower limb proximal

muscle. There is no leg ulcers seen as well.

Besides, she has evidence of pulmonary fibrosis with crepitations heard over the lung and evidence of

pulmonary hypertension with a loud P2 heard.

I would like to complete my examination by abdominal examination, check the blood pressure and check the

stool and urine to look for proteinuria and steatorrhea.

In summary, this is a middle-aged lady who has diffuse systemic sclerosis and functionally has restricted hand

movements. She also has evidences to suggest pulmonary fibrosis and pulmonary hypertension.


Investigations :

To confirm my diagnosis, I would like to do blood tests such as anti-topoisomerase and anti-centromere

antibodies. I would expect anti-topoisomerase antibody to be positive in diffuse systemic sclerosis and anti-

centromere antibodies to be positive in limited systemic sclerosis. Other investigations are ANA, urinalysis,

renal profile, ECG, chest x-ray, CT thorax to look for other complications of the disease.

Management :

The principle of treatment of scleroderma is mainly conservative and identify and treat possible complications.

The treatment is mainly organ-based.

- Raynauds phenomenon : avoid cold, stress and B-blocker. Calcium channel blocker or sildenafil can be

given for vasodilatory effects. Bosentan and ilioprost are also effective in treating Raynauds.

- Renal hypertensive crisis : avoid steroid. ACE inhibitor is effective in treating this.

- GERD : PPI.

- Malabsorption syndrome : oral antibiotics.

- Pulmonary hypertension : bosentan, ilioprost. Lung transplant is another options.

- Arthralgia : NSAIDS, paracetamol, low dose steroids

What are the main types of scleroderma?

Diffuse and limited systemic sclerosis.

What is the diagnostic criteria for scleroderma?

- Major criteria : proximal scleroderma (to MCP and MTP joint)

- Minor criteria : sclerodactyly, fingertip pitting or atropy, bibasal pulmonary fibrosis.

At least the major or 2 minor criteria must be fulfilled to diagnose scleroderma.

What are the antibody that will be positive in scleroderma?

Anti-topoisomerase for diffuse systemic sclerosis and anti-centromere for limited systemic sclerosis.

What are the possible causes of Raynauds phenomenon?

- Cold

- Connective tissue diseases such as SLE, RA, Scleroderma

- B-blocker

- Polycythemia vera rubra

- Thoracic outlet syndrome

- Buerger’s disease

- Occupational vibrating tools

- Cryoglobulinemia


What are the systemic complications of scleroderma?

System Complications

Heart Myocardial fibrosis, pericarditis, myocarditis, arthymia, conduction block,

pericardial effusion

Lung Lung fibrosis, pulmonary hypertension

GIT Dysphagia, GERD, constipation, diarrhea, watermelon stomach, small bowel

bacteria overgrowth

Renal Renal hypertensive crisis

Neurological Peripheral neuropathy, myopathy, myositis, erectile dysfunction

Joint Arthralgia

Skin Telangiectasia, vasculitis, pulp atrophy

Endocrine Hypothyroidism

What is mixed connective tissue disease?

Scleroderma + SLE + Myositis

Causes of anemia in Scleroderma :

IDA, anemia of chronic disease, megaloblastic anemia (bacterial overgrowth)

How would you manage renal hypertensive crisis?

ACE inhibitor is the 1st line of treatment. If there is contraindication to ACE inhibitor, ARB can be tried even

though the effectiveness is still not well known. Steroids must be avoided as it will worsen the hypertensive

crisis. Creatinine level should be monitored to look for renal failure.


Case 11 : Parkinson’s disease

Introduction :

Parkinsonism is a syndrome characterized by termor, rigidity and bradykinesia. Causes of Parkinsonism include

idiopathic Parkinson’s disease and Parkinson’s Plus syndrome.

Exam Stems :

Do a general examination and proceed.

Examination Steps :

1. Look for expressionless face, pill-rolling tremor.

2. Elicit cogwheel rigidity and bradykinesia.

3. Ask the patient to write. At the same time, look for scar in the head or chest.

4. Do a glabellar tap and assess the speech.

5. Assess the eye movement. Look for vertical gaze palsy.

6. Ask the patient to walk and examine the gait.

7. Do a retropulsion test if time permits.

Presentation :

Sir, my patient is a elderly gentlemen who appears to be well, not in respiratory distress or in pain. He has an

expressionless face and pil-rolling tremor at rest.

In the hands, I could appreciate cogwheel rigidity on the left arm which present throughout the whole range of

movement and exaggerated by distraction. He also has evidence of bradykinesia and micrographia.

He has a positive glabellar tap but the speech appears to be fairly good. He has no evidence to suggest

progressive supranuclear palsy as there is no vertical gaze palsy.

He walks with a fenestating gait and his arm swings are very much reduced. He also has difficulty in turning.

Retropulsion test is negative.

I would like to complete my examination by checking the supine and standing blood pressure. I would also like

to ask for history of neurological disorder in the family and any history of neuroleptics consumption.

In summary, this is a elderly gentlemen who has Parkinsonism most likely idiopathy Parkinson’s disease and

functionally he is disabled by bradykinesia.

How would you diagnose Parkinson’s disease?

Parkinson disease is a clinical diagnosis. There is no investigations that can confirm Parkinson’s disease.


What investigation would you like to do?

I would like to do a MRI of the brain to exclude possible Parkinson’s plus syndrome. Otherwise, there is no

single test that can confirm the diagnosis of idiopathic Parkinson disease.

How would you manage the patient?

The principle of treatment is mainly pharmacological treatment. The group of drugs that can be employed are :

- Dopamine : madopar

- Dopamine agonist : bromocriptine, carbegoline, pramipexole, ropinirole

- Anticholinergics : benzhexol

- MAO inhibitor : Selegiline

- COMT inhibitor : Entacapone

If oral drugs fail to improve, I would like to consider subcutaneous apomorphine infusion. If this fails, I would

consider surgical intervention.

What are the Parkinson’s Plus syndrome?

Progressive supranuclear palsy, multisystem atrophy, cortico-basalganglionic degeneration, diffuse lewy body

disease

What are the surgery that can be done for Parkinson?

Deep brain stimulation, pallidotomy, thalamotomy

What is the staging system used for Parkinson?

Hoehn and Yahr Classification :

Stage Features

I Unilateral involvement only, minimal or no functional impairment

II Bilateral involvement, without impairment of balance

III First sign of impaired righting reflexes. Functionally restricted but physically capable, mild-

moderate disability

IV Fully developed, severely disabling disease, still able to walk and stand unassisted but markedly

incapacitated

V Confined to bed or wheelchair unless aided

What are the non-motor complications of Parkinson’s disease?

Depression, restless leg syndrome, constipation, sexual dysfunction

What is progressive supranuclear palsy?

akinesia, dementia, vertical gaze palsy, axial rigidity

What is the first sign of Parkinson disease?

Reduced arm swing


Case 12 : Stroke

Introduction:

Clinical syndrome characterized by acute onset of focal neurological deficit lasting >24 hours due to

cerebrovascular accident (embolic, thrombotic or hypoperfussion).

Presentation:

Sir, I would like to complete my neurological examination by checking the upper limb, spine, anal tone, cranial

nerve and higher cortical function. I also want examine the cardiovascular system.

This is a middle aged gentlemen with average built and appears to be well. He has a hemiplegic gait with fisting

and pronation of right arm. Neurological examination show that there is upper neuron sign over the right

lower limb with muscle wasting with no contracture, hypertonia, brisk deep tendon reflex, positive Babinski

sign but no clonus. Muscle power is 3/5. The proprioception and coordination test is normal.

In summary, this gentleman has right sided hemiplegia most probably due to left corticospinal lesion.

Differential diagnosis:

1. Metabolic or toxic encephalopathy eg: hypoglycaemia, non ketotic hyperglycaemia

2. Post ictal todd paralysis

3. Structural intracranial lesion: tumor, hematoma, AVM, abcess

Investigation:

First, I would like to take CT brain to exclude or diagnose hemorrhagic stroke or intracranial lesion. Then I

would like to check full blood count to rule out coagulopathy, renal function profile, blood sugar profile to

exclude hypoglycaemia, fasting lipid profile, electrocardiogram to look for arrhythmia, chest x-ray,

echocardiogram to rule out cardiac emboli, carotid Doppler and MRI angiography. Thrombophila and

connective tissue screen in young stroke.

Management:

Early detection, stabilize patient and admit to stroke unit with vital sign monitoring. Maintenance of

electrolyte and glucose level, prevent hyperthermia, give oxygen supplement, wide bore needle insertion with

intraveneous fluid and nil by mouth. Acute ischemic stroke patient who present within 4.5 hours after onset

can be thrombolysed with intravenous recombinant tissue plasminogen activator. Give aspirin within 48 hours

of ischemic stroke shown to reduce risk of death and recurrent stroke. Refer to physiotherapy and

occupational therapy to prevent contracture, muscle wasting and improve outcome. Turn patient’s position

every 2 hourly to prevent pressure sore. Deep vein thrombosis prophylaxis. Control risk factor: stop smoking,

control blood pressure and diabetes, treat hyperlipidaemia. Give antihypertension drug eg labetolol or

nicardipine if systolic >220mmHg and diastolic >120mmHg, otherwise just monitor the blood pressure. Reduce

blood pressure slowly with target of about 160-180 mmHg systolic and 100-110mmHg diastolic.


How to classify stroke?

Bamford clinical classification of stroke:

Common site of hypertensive hemorrhagic stroke :

Rupture of charcot-bouchard aneurysm. Common site: basal ganglia (putamen, caudate nucleus), cerebellum,

internal capsule, external capsule, hypothalamus

Contraindication for thrombolysis :

Stroke or head trauma or myocardial infarction in the past 3 month.

Documents

UMS Medical Short Cases Records 1st Edition