Chronic Liver Disease

Prensentation
Sir, this patient has decompensated chronic liver disease with portal hypertension,
splenomegaly and ascites.

My findings include:
Presence of an enlarged spleen that is palpable 3cm from the left costal margin. It is
non-tender, firm in consistency, smooth surface, regular edge, notch border with no
splenic rub. I am unable to get above this mass. The liver is not enlarged with a span
of 12 cm in the right mid-clavicular line. The kidneys are not ballotable. There is
presence of ascites with shifting dullness and this is not associated with tenderness.

He is deeply jaundice and bruising noted on the ULs and LLs with presence of
stigmata of CLD including leukonychia, clubbing, palmar erythema, spider naevi and
gynaecomastia with loss of axillary hair. There is also presence of bilateral edema.

Complications:
He is cooperative with the examination with no flapping tremor to suggest hepatic
encephalopathy.
There are no enlarged Cx LNs and patient is not cachexic looking. There is also no
conjunctival pallor noted.

Aetiology:
I did not find any parotidomegaly, dupytren’s contracture, tattoos, surgical scars or
thrombosed veins.

Treatment:
I did not notice any abdominal tap marks but patient has sinus bradycardia, indicating
use of beta-blockers.

I would like to complete my examination by looking at the patient’s temperature chart

for fever and a rectal examination for hard impacted stools or malena.

In summary, this patient has decompensated chronic liver disease with portal
hypertension, splenomegaly and ascites. There is presence of bruising, leukonychia,
jaundice with no evidence of hepatic encephalopathy.

A. The most likely etiology for this gentleman is

1. Chronic ethanol ingestion due to presence of parotidomegaly but no dupytren’s
contracture; presence of hepatomegaly
2. Chronic hepatitis B infection as patient has tattoos.
3. Chronic hepatitis C infection as I note an abdominal surgical scar with possibility
of transfusion in the past

B. In the local context, the most likely underlying etiology is chronic ethanol
ingestion, chronic hepatitis B and C.

C. The most likely aetiology is chronic ethanol ingestion as I notice that this patient
has presence of parotidomegaly. In view that there is also a hard irregular liver that is
palpable, it raises the possibility of an underlying mitotic lesion of the liver.
D. The most likely aetiology is
1. Primary biliary cirrhosis as she is a middle-aged lady with evidence of CLD with
pruritus, xanthelasma and generalised pigmentation.
2. Hemochromatosis as he is a middle-aged gentleman with slate-grey appearance
with presence of diabetic dermopathy. I would like to complete the examination by
examining the CVS for CMP, urine dipstick for glycosuria and for small testes
secondary to pituitary dysfunction.
3. Wilson’s disease as the patient has a short stature associated with Kayser Fleisher
rings of the eyes and tremor and chorea of the affecting the left upper limb.
4. Haemolytic anaemia (Thalassemia major/intermedius, Hereditary spherocytosis) as
the patient has a short stature associated with hyperpigmentation and thalassemic
facies with frontal bossing, flat nasal bridge and maxillary hyperplasia. I would like to
complete the examination by examining the CVS for CMP, urine dipstick for
glycosuria and for small testes secondary to pituitary dysfunction.

Questions
What is cirrhosis of the liver?
 Defined pathologically
 Diffuse liver abnormality
 Fibrosis and abnormal regenerating nodules

What are the causes of liver cirrhosis?

 Chronic ethanol ingestion
 Viral hepatitis – B and C
 In UK, the risk for hep C is blood transfusion before Sept 1991 or blood
products before 1986
 Cardiac failure
 Others
 Autoimmune chronic active hepatitis (female)
 Primary biliary cirrhosis (female)
 Primary sclerosing cholangitis
 Haemochromatosis (male)
 Hemolytic disease
 Wilson’s disease
 Alpha 1 AT deficiency
 Galactosemia
 Type 4 glycogen storage disease
 Budd-Chiari (in malignancy- PRV or intraabdominal, AI, OCPs, IBD and
PNH)
 Drugs – MTX (Look for RA or Psoriasis; Bx before starting MTX and bx
every 1.5g accumulated dose), amiodarone, isoniazid, methyldopa (MAMI)
 Cryptogenic

What are the complications of cirrhosis? (5)

 Portal hypertension
 Ascites – Tense ascites, SBP
 Splenomegaly – thrombocytopenia
  Varices
 Hepatorenal syndrome
 Dx
 Cr Clr <40
 Absence of other causes for renal impairment
 Absence of Cr improvement, proteinuria (0.5g/d), hematuria (<50/hpf) and
urinary Na <10
 Type 1 = rapidly deterioration in renal fn ie doubling of serum Cr in < 2wks to
>221 umol/l
 Type 2 = stable or slowly progressive that does not mean criteria for type 1
 Hepatic encephalopathy
 Stages
 1 – depression, euphoria, sleep disturbance, slurred speech; may have
asterixis, normal EEG
 2 – lethargy, moderate confusion; asterixis present; abnormal EEG
 3 – marked confusion, arousable; asterixis present; abnormal EEG
 4 – coma; abnormal EEG
 Coagulopathy – low platelets and reduced clotting factors
 HCC

How do you stage cirrhosis of the liver?

 Child-Pugh staging
o Consists of 5 parameters with score ranging from 5 to 15
o Prognosticate
o 5 parameters ( 2 clinical and 3 Ix)
o Bilirubin (<34, 34-50, >50 umol/l)
o INR (<1.7, 1.7-2.3, >2.3)
o Albumin (>35, 28-35, <28)
o Ascites (mild, moderate, severe)
o Encephalopathy (absent, I and II, III and IV)
o A – 5-6 pts (1 year 100%, 2 year 85%)
o B – 7-9 (1 year 80%, 2 year 60%)
o C – 10-15 (1 year 45%, 2 year 35%)

How would you investigate? (Note the STEM STATEMENT) (5)

 Confirming the dx
o Abdominal USS or CT
 Establishing the aetiology
o Hep markers, CAGE questionnaire, liver Bx in selected cases
 Prognosticate
o LFT – Albumin, bilirubin
o INR
 Complications
o Endoscopy of the upper GIT
o Mitotic change – USS and AFP
o Evaluation of renal function – urea, electrolytes and Cr
o Evaluation of ascitic fluid
 Cell count
 Ascites albumin (SAAG)
 Gram stain and C/S
  Others – AFB smear and c/s, cytology
 Evaluation for liver transplant
o 5 year survival rate for cirrhosis with ascites is 30-40% vs 70-80% for post
liver transplant
o MELD score (Model for End Stage liver disease which has bilirubin,
creatinine and INR)
o Consider for those with refractory ascites, SBP or HRS

When should an abdominal paracentesis be done for a patient with cirrhosis and
ascites?
 Newly diagnosed to r/o SBP
 Symptomatic – fever, abdominal pain, encephalopathy, GI bleed

How would you manage? (4)

 Education and counselling
o Stop drinking alcohol, regular follow up
 Manage the underlying disease
o Hepatitis B
 General measures (stop alcohol, hep A vaccination)
 Lifelong surveillance for HCC with USS and AFP
 Antiviral for
 Immune clearance phase( HBeAg +, ALT raised)
 Reactivation phase ( HBe Ag -, ALT raised, HBV DNA
raised)
 IFN alpha (SE : influenza-like; neutropenia and
thrombocytopenia; neuropsychiatric and unmasking AI disease)
 Lamivudine (well tolerated but YMDD mutant)
o Hepatitis C
 At risk are IVDAs and transfusion pre 1989 (Singapore) or
pretransfusion Sept 1991 or blood pdts before 1986 (UK)
 General measures
 Surveillance (HCC and screen for HIV)
 Indications
 HCV RNA levels (>50 IU/ml)
 Raised ALT
 Bx showing fibrosis and inflammation
 Treatment
 Peg interferon
 Ribavirin
o Alcoholic liver disease
 >21u/wk in males and >14u/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

What are the nail changes of hypoalbuminaemia?

 Leukonychia, ie nail bed opacify indicating an albumin level <30g/dL; affecting
the thumb and index nails bilaterally initailly
 Muehrcke’s lines – transverse white lines

What are the causes of palmar erythema?

 CLD
 RA, thyrotoxicosis and polycythaemia
 Pregnancy, normal finding
What are the causes of anaemia in cirrhotic patients?
 Anaemia of chronic disease
 Fe deficiency from GI bleed
 Hemolysis from hypersplenism
 Folate and B12 from poor nutrition

How many spider naevi should be present to be considered as significant?

 More than 5

When examining a patient with signs of chronic liver disease, think of:
Primary biliary cirrhosis
 Clinical
 Female middle age
 CLD with pruritus, xanthelesma, generalised pigmentation,
hepatosplenomegaly
 Stages
 Asymmptomtic with normal LFTs (positive Abs)
 Asymptomatic with abnormal LFTs
 Symptomatic – lethary and pruritus
 Decompensated
 Commonly associated with sicca syndrome, arthralgia, Raynauds,
Sclerodactyly and Thyroid disease
 Ix
 Raised ALP, Anti-Mitochondrial Ab – M2 Ab, IgM
 Lipids
 Other tests for CLD
 Histology – Granulomatous cholangitis
 Mx
 Symptomatic
 Urosdeoxycholic acid
 Cholestyramine
 Fat soluble vitamins
 Immunosuppression – Cyclosporin, steroids, AZA, MTX, tacrolimus,
colchicines
 Liver transplant

Hemochromatosis
 Clinical
 Male
 Slate-grey appearance, hepatomegaly
 Affects
 Liver – cirrhosis and cancer
 Pancrease – DM
 Heart failure (CMP)
 Pituitary dysfunction
 Pseudogout
 Therefore requests
 Urine dipstick, CVS examination and testicular examination
 Autosomal recessive, HLA-A3, Ch 6 – HFE gene, increased Fe absorption with
tissue deposition,
 Ix
 Raised ferrritin, transferrin saturation and liver Bx
 Mx
 Non-pharmological
 Avoid alcohol
 Avoid shellfish as they are susceptible to Vibrio vulnificus
 Venesection
 Dy/Dx of generalised pigmentation
 Liver – hemochromatosis in males and PBC in females
 Addison’s
 Uremia
 Chronic debilitating conditions eg malignancy
 Chronic haemolytic anaemia

Wilson’s disease
 Clinical
 Short stature
 Eyes
 KF rings - greenish yellow to golden brown pigmentation of the limbus of
the cornea due to deposition of Cu in Descemet’s membrane at 12 and 6
o’clock position. Also occurs in PBC and cryptogenic cirrhosis
 Sunflower cataract
 Extrapyrimidal
 Tremor and chorea
 Presents as difficulty writing and speaking in school
 Pseudogout
 Penicillamine complications
 Myasthenic – ptosis
 Lupus – malar rash, small hand arthritis
 Urinalysis for glycosuria from proximal RTA
 Autosomal recessive, Ch 13, increased Cu absorption and tissue deposition
 Ix
 Low serum ceruloplasmin, increased 24H urinary Cu
 Liver Bx – increased Cu deposition
 Mx
 Penicillamine

Ulcerative Colitis
 Clinical
o Skin – erythema nodosum, pyoderma gangrenosum
o Joint arthropathy – LL arthritis, AS, sacroilitis
o Aphthous ulcers
o Ocular – iritis, uveitis and episcleritis
o CLD – Cirrhosis, chronic active hepatitis, fatty liver PSC,
Cholangiocarcinoma, metastatic colorectal cancer, amyloid
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 non-productive 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

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

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
Isolated Third Nerve Palsy
Examination
 Complete the examination routine for eyes or CN as instructed
 Proceed to look for intortion of the affected orbit by tilting the head towards the
involved site or looking for intortion when asking patient to look down and
medially of the affected eye; patient maybe tilting his head voluntary away from
the side of the lesion (implies 4th nerve palsy)
 Rule out
 Thyroid, MG
 Superior orbital syndrome and Cavenous sinus syndrome
 Proceed with
 Neck for LNs
 Examine the upper limbs for Cerebellar, hemiplegia, EPSE and areflexia
 Look dor DM dermopathy
 Request
 Corneal reflex (reduced or absent)
 Visual fields (bitemporal hemianopia)
 Fundoscopy for optic atrophy (MS), DM or hypertensive changes
 Visual acuity
 Blood pressure
 Urine dipstick
 Temperature chart
 Headache or pain

Presentation
Sir, this patient has an isolated right third nerve palsy as evidenced by presence of
 Divergent strabismus involving the right orbit which is in a “down and out”
position
 Complete ptosis/partial ptosis of the right eye
 Dilated pupil which is not reactive to direct light and to accommodation

There is no ptosis or superior rectus palsy of the left eye to suggest a III nerve nuclear
lesion.

There are no associated CN palsies to suggest superior orbital fissure syndrome or

cavernous sinus syndrome. I did not find any associated 4th CN palsy with presence of
intortion on asking the patient to adduct the right eye and look downwards. The 6th
CN is also intact. There is also no paraesthesia of the ophthalmic division of the 5th
CN. Gross VA is also intact.

There are no signs of Graves ophthalmopathy (no conjunctival suffusion and

proptosis or lid edema of the right eye)
There is no evidence of fatiguiability to suggest myasthenia gravis.

On examination of the neck, I did not find any enlarged cervical LNs. There is also no
evidence of hemparesis, cerebellar signs, areflexia or tremors or chorea on
examination of the upper limbs. I also did not notice any diabetic dermopathy.
I would like to complete the examination by:
 Corneal reflex (reduced or absent)
 Visual fields (bitemporal hemianopia)
 Fundoscopy for optic atrophy (MS), DM or hypertensive changes
 Visual acuity
 Blood pressure
 Urine dipstick
 Temperature chart
 Headache or pain

In summary, this patient has an isolated right third nerve palsy. The possible causes
include…

Questions
What is the course and anatomy of the 3rd CN?
 Nuclear portion – at the midbrain
 Fascicular intraparenchymal portion – close to the red nucleus, emerges from
cerebral peduncle
 Fascicular subarachnoid portion – meninges, PCA aneurysm(between the PCA
and internal carotid)
 Fascicular cavernous sinus portion – sella turcica between the petroclinoid
ligament below and interclinoid above
 Fascicular orbital portion – superior orbital fissure

Axons run ipsilateral except those to the (1)superior rectus which is innervated from
the contralateral 3rd nucleus and (2) the levator palpebrae which has innervations from
both nuclei.

Hence, right sided 3rd nerve palsy can have contralateral ptosis which is often milder
than the ipsilateral ptosis; also the ipsilateral superior rectus can still be affected due
to involvement of the contralateral fascicular intraparenchymal midbrain portion of
the left 3rd nerve.

For pupillary reflex and accommodation, it is served by the Edinger-Westphal nucleus

and all axons are ipsilateral.

What are the causes of an isolated 3rd nerve palsy?

 Brainstem
 Infarct, haemorrhage, tumour, abscess, multiple sclerosis
 For nuclear lesions
 Will also have contralateral ptosis and elevation palsy
 May have bilateral 3rd nerve palsies (+/- INO)
 For fascicular midbrain lesions
 Weber’s (+ contralateral hemiplegia) – base of midbrain
 Northnagel (+ contralateral cerebellar) – tectum of midbrain
 Benedikt’s (+ contralateral hemiplegia, contralateral cerebellar and
contralateral tremor, athetosis and chorea) – tegmentum of midbrain, red
nucleus
 Peripheral
 Subarachnoid portion- PCA aneurysm, meningitis, infiltrative, others eg
sarcoidosis
 Cavernous sinus lesions- Tumour(pituitary adenoma, meningioma,
cranipharyngioma), cavernous sinus thrombosis, inflammatory (Tolosa-Hunt
syndrome which is a non-caseating granulomatous or non-granulomatous
inflammation within cavernous sinus or superior orbital fissure that is treated
with steroids) and ischaemia from microvascular disease affecting the vasa
nervosa, mononeuritis multiplex
 Orbital- tumor (meningioma, hemangioma), endocrine (thyroid) and
inflammatory(orbital inflammatory pseudotumor ie Tolosa Hunt)
 Mononeuritis multiplex, Miller Fischer and MG

 Don’t forget migraines and myasthenia! (emergency – Coning, Giant cell Arteritis
and aneurysm)

How would patient present?

 Diplopia
 Ptosis
 Symptomatic glare from failure of constriction of pupil
 Blurring of vision on attempt to focus of near objects due to loss of accomodation
 Pain in certain etiologies
 Diabetes mellitus
 Tolosa-Hunt syndrome
 PCA aneurysm
 Migraine

What are the causes of a dilated pupil?

 III nerve palsy
 Optic atrophy (direct light and accommodation absent with intact consensual
reflex)
 Holmes Adie Pupil (Myotonic pupil)
o Unilateral
o Slow reaction to bright light and incomplete constriction to convergence
o Young women
o Reduced or absent reflexes
 Mydiatric eye drops
 Sympathetic overactivity

Why does a PCA aneurysm results in pupillary involvement whereas conditions such
as DM or hypertension spares the pupil?
 The pupillary fibres are situated superficially and prone to compression whereas
ischaemic lesions tends to affect the core of the nerve thus sparing the pupillary
fibres

How would you investigate?

 Imaging
o CT, MRI
o Angiogram
 Blood test
 Fasting blood glucose, ESR
 TFT and edrophonium
 LP

How would you manage?

 Medical 3rd nerve palsy
 Education – watchful waiting and avoid driving, heavy machinery and
climbing high places
 Treat underlying conditions such as DM and hypertension
 Watchful waiting
 Spontaneously recover within 8 weeks
 Symptomatic treatment
 NSAIDs for pain
 If complete ptosis, no need to treat diplopia
 Use eye patch for severe diplopia and a prism Fresnel paste on for mild
diplopia
 Surgical 3 nerve palsy - surgery
rd
VII Nerve Palsy
Examination
 Upon noticing facial asymmetry, proceed to tests VII nerve functions
 Look up (frontalis) and attempt to push the folds down, close your eyes
(orbicularis oculi) and attempt to force them open, and frown (corrugator
superficialis)
 Look for exposure keratitis, tarsorraphy
 Nasolabial fold, show your teeth and and blow against closed lips
 Look for drooling of saliva
 Determine UMN or LMN, unilateral or bilateral
 UMN unilateral
 Examine UL and look for hemiparesis on the same side of the facial weakness
 Check for xanthelesma, DM signs and BP
 LMN unilateral
 Examine other CN
 VI nerve and contralateral weakness in brainstem lesions
 CPA lesion (V, VI, VII and VIII with cerebellar)
 Other CN nerves involvement non-conforming type
 Basal meningitis lesions
 Mononeuritis multiplex, MG
 Therefore proceed to examine the neck
 Look at the Palate for vesicles
 Examine the parotids and for surgical scars
 Mastoid tenderness
 Examine the neck for cervical LNs
 Upper limbs
 Contralateral hemiparesis
 Ipsilateral cerebellar
 Ask to examine
 Otoscopy for vesicles in EC and otitis media
 For hyperacusis (sensitive to high-pitched or loud sounds)
 For loss of taste in the anterior two-thirds of the tongue
 Urine dipstick for glucose and BP

 Upon noticing facial diplegia, proceed with

 Rule out MG (Bilateral ptosis)
 Rule out Dystrophia myotonica or fascio-scapular-humeral dystrophy
 Bilateral LMN VII
 Test for frontalis, corrugator and orbicularis oculi
 Ask patient to show teeth and blow against closed lips
 Look for V, VI, VIII
 Examine parotids (Sarcoidosis, amyloidosis)
 Examine tongue (scrotal tongue for MR syndrome)
 Examine the upper limbs for GBS, MND, leprosy, Lyme’s (radiculopathy) and
bilateral cerebellar signs if suggestive of bilateral CPA tumors
 Think of rare: Melkersson-Rosenthal syndrome, Mobius syndrome
Presentation
Sir, this patient has got a right sided lower motor neurone facial nerve palsy as
evidenced by:
 Paralysis of both the upper and lower facial muscles on the right
 Loss of wrinkling of the right side of the forehead, inability to fully close his right
eye shut with Bell’s phenemenon
 Associated with loss of the right nasolabial fold and drooping of the right angle of
the mouth

There are no complications of exposure keratitis and there is no drooling of saliva. I

also did not notice any evidence of a right sided tarsorraphy

There is no associated VI nerve palsy to suggest a brainstem lesion.

There are also no features of Cerebellopontine angle lesion with no involvement of

the V, VI, VIII or cerebellar signs on the right.

I did not find any evidence of a parotid swelling or a surgical scar and there are no
vesicles on the palate. There was no right sided facial oedema or plication of the
tongue to suggest the rare syndrome of MR syndrome.

There is no mastoid tenderness and no enlarged cervical LNs. I did not detect any
contralateral hemiparesis or cerebellar signs.

I would like to complete my examination by

 Otoscopy for vesicles in EC and otitis media
 Ask about hyperacusis (sensitive to high-pitched or loud sounds)
 Ask for loss of taste in the anterior two-thirds of the tongue
 Urine dipstick for glucose and BP (mononeuritis multiplex)

The most likely cause for this patient would be a right sided Bell’s palsy.

Questions
What is the course of the facial nerve?
 VII nerve nucleus lies in the pons in close proximity with VI nerve nuclei
 VII leave the pons with VIII via the cerebellopontine angle
 It enters the facial canal and enlarges to become the geniculate ganglion
 A branch is given off to the stapedius muscle and the greater superficial petrosal
branch goes to the lacrimal glands
 The chorda tympani which supplies taste sensation to the anterior two thirds of the
tongue joins the VII nerve in the facial canal
 VII nerve exits the skull via the stylomastoid foramen, through the parotids with
the following branches
 Temporalis
 Zygomatic
 Buccal
 Mandibular
 Cervical
What are the causes of a unilateral LMN VII nerve palsy?
 Brainstem (Infarct/haemorrhage, MS, abscess and tumour, syringobulbia)
 Base of skull lesions (infective, tumour, infiltrative)
 CPA lesions (acoustic neuroma, meningioma, neurofibroma)
 Petrous temporal bone (Bell’s palsy, Ramsay Hunt, OM)
 Parotid (tumour, sarcoidosis, surgery)
 Mononeuritis multiplex
NB: Most common is Bell’s palsy

What are the causes of bilateral LMN VII nerve palsies?

 After ruling out MG and myopathies
 Bilateral CPA tumor as in NF type 2
 Bilateral Bell’s palsy
 Bilateral Parotid enlargement (Sarcoidosis – Uvoeoparotid fever or Heerfordt’s
fever)
 GBS, MND and leprosy, Lyme disease
 Rare: Rosenthal Melkersson syndrome (triad of VII palsy with facial edema and
plication of the tongue, Mobius syndrome (congenital facial diplegia,
oculoparalysis from III and VI and infantile nuclear hypoplasia)

What is Bell’s phenemenon?

 It refers to the upward movement of the right eyeball with incomplete closure of
the right eyelid in an attempt to close the right eye.

Why are the muscles of the upper face spared in a upper motor neurone lesion?
 The upper facial muscles are preserved in an UMN lesion as there are bilateral
cortical representations of these muscles.

What is Bell’s palsy?

 An idiopathic facial paralysis, believed to be due to viral-mediated cranial neuritis
from HSV
 Typically presents with abrupt onset of weakness with worsening the following
day, associated with facial or retroauricular pain, hyperacusis and excessive
tearing

What is Ramsay Hunt syndrome?

 Herpes zoster infection of the geniculate ganglion
 Presents with vertigo, hearing loss, facial weakness, pain in the ear with vesicles
seen on the external auditory meatus and palate

What is facial synkinesis?

 Attempt to move one group of facial muscles results in movement of another
group
 Occurs as a result of anomalous regeneration of the facial nerve
 Egs if nerve fibres which innervate the facial muscles later innervate the lacrmial
glands, then patient shed tears on mastication (crocodile tears)
How would you investigate?
 Targeted Ix according to history and physical examination
 Blood Ix eg Lyme’s disease
 Imaging

How would you manage (Bell’s palsy)?

 Educate
 Lubricating eye drops, eye patch, physiotherapy
 PO Pred 1mg/kg/d for 7-10 days and PO acyclovir 400mg 5X/d for 7 days
(within first 72hrs)
 Regular follow up to look for resolution and exclude new developing signs
suggestive of other conditions
 Surgical (tarsorraphy) for chronic non-resolving cases

How would you educate or counsel patient with Bell’s palsy?

 Common condition
 Course
 Improvement onset: 10 days to 2 months
 Plateau: 6 weeks to 9 months
 Residual signs
 Synkinesis
 Frequency: ~50%; May be reduced by corticosteroid treatment
 May be treated with botulinum
 Probably due to anomalous regeneration of nerve
 Crocodile tears: 6%
 Face weakness: 30%
 Contracture: 20%
 Blepharospasm: May occur years after paralysis
 Prognosis better
 Incomplete paralysis
 Early improvement
 Slow progression
 Younger age
 Normal salivary flow
 Normal taste
 Electrodiagnostic tests normal
 Nerve excitability
 Electrogustometry
 ِ ْ‫ِبسْ ِم هِ الرَ ح‬
‫من ال َرحِيم‬

Spastic paraplegia with sensory level

 DD :-
1. Cord compression ( extra- or intramedullary ) :
- Pott’s disease.
- Disc prolapse : trauma ; vertebral collapse (osteoporosis, MM).
- Mets.
- Tumors.
2. Transverse myelitis.
3. Anterior spinal artery occlusion : loss of pain & temp., intact posterior column.
4. MS & neuromyelitis optica.

 Don’t forget to examine the back for : deformities, tenderness, bed sores.
 In a young lady : tell the examiner that you would like to examine the fundus for
optic atrophy ( MS ).
 In any female also : Breast exam for evidence of primary tumor.
 In any patient also tell the examiner that you would like to examine for evidence
of malignancy & tuberculosis.

 Investigations :-
- Blood tests : CBC, ESR, CRP, ….
- MRI spinal cord : cervical ?! dorsal ?! lumbosacral ?! according
to the sensory level.
Looking for :
- Soft tissue swelling
- Disc prolapse
- Cord compression
- Vertebral collapse & intervertebral disc.
- Vertebral lesions
- Cord : demyelination , signal changes

- CT myelography.
 - Other investigations according to the likely cause :

- PSA ??

- S. protein electrophoresis , bone marrow (MM?)

- Screening for TB (Pott’s disease)

- Work up for evidence of malignancy (mets)

- CSF for oligoclonal bands + VEP (MS?!)

Spastic paraplegia without sensory level

 Causes : DD :-
- Cord compression can’t be excluded.
- Motor neuron disease.
- Hereditary spastic paraparesis.
- Tropical spastic paraplegia ( Human T-lymphotrophic virus ).
- Parasagittal tumors.
- MS.
- Hepatic myelopathy ( liver disease ).
- Infectious ( neurosyphilis, neurobrucellosis, HIV ).
- Paraneoplastic.
- Subacute combined degeneration of the cord.
- Syringomyelia ( jacket sensory loss ).
 Young : mention first : familial (hereditary spastic paraparesis), infectious (HIV),
MND?!, cord compression, subacute combined degeneration of the cord, MS
(female).
 Elderly : cord compression, MND, subacute combined degeneration of the cord,
paraneoplastic, & other causes, but hereditary & MS are less likely.
 Investigations :
- Blood tests.
- MRI spinal cord (as mentioned before).
- Then specific investigations according to the likely cause :
- EMG, NCS.
- Vit. B 12.
- HIV.
- Anti – Hu.
- Screening for tuberculosis.
- CSF analysis.
- MRI Brain (parasagittal meningioma).
 Discussion according to the case may be :
- Diagnosis & treatment of MS.
- Diagnosis & treatment of Pott’s disease.
- Subacute combined degeneration of the cord.
- Multiple myeloma.

Flaccid paraplegia with sensory level with extensor plantar response

 DD :-
- Acute cord compression.
- Anterior spinal artery occlusion.
- Transverse myelitis.
- MS.
 Investigations : the same as for spastic paraplegia with sensory level.

Flaccid paraplegia

 DD :-
- Guillain-Barre syndrome.
- CIDP.
- CMT (Charcot Marie Tooth) & other causes of motor
polyneuropathy.
- Cauda equina (below L1 vertebra).
- Motor neuron disease (progressive muscular atrophy).
- Periodic hypokalemic paralysis.
- If unilateral : old polio.
 Tell the examiner :
- I would like to extend my examination to the upper limbs.
- Test sensation in the saddle area.
- Anal tone.
 Investigations :
- Blood tests.
- MRI spinal cord ( cauda equina ).
- NCS – EMG.
- CSF analysis.
 If :
 Distal weakness, distal hypotonia & hyporeflexia, wasting :-

The same DD for flaccid paraplegia:

- CIDP.
- CMT.
- All causes of motor neuropathies :
- Lead.
- Porphyria.
- Dapsone.
- Diphtheria.
- Guillain-Barre syn. (but the weakness is mainly proximal).

 Distal weakness, distal hypotonia & hyporeflexia, wasting + Gloves & stocks
sensory loss (symmetrical sensory motor polyneuropathy) :
- CIDP.
- DM.
- Alcohol.
- Vit. B 12, B 1 deficiencies.
- Vasculitis.
- Drugs.
- HIV.
- Paraneoplastic.
- Renal diseases.
- Amyloidosis.
 See next page : peripheral neuropathy.
 Peripheral neuropathy

 Clinical findings :-
 Inspection :
- Trophic changes.
- Distal wasting.
- Scars (corrective surgery for the tendons).
- Deformities : pes cavus.
 Reduced tone mainly distally.
 Distal weakness.
 Diminished reflexes distally.
 Palpate for thickened nerves.
 Gait : stamping (high steppage gait).
 Romberg’s sign (sensory ataxia).
 Look for evidence of :
- DM.
- Alcoholic liver disease.
- Rheumatoid arthritis.
- Malignancy.
 May be mainly : i.sensory neuropathy. ii.motor neuropathy.
iii.sensorimotor neuropathy.

 Causes of predominantly sensory neuropathy :

- DM.
- Alcohol.
- Vit. Deficiency : B 12, B 1.
- Chronic renal failure.
- Leprosy.
- Paraneoplastic.

 Causes of predominantly motor neuropathy :

- CMT.
- Guillain-Barre syndrome.
- Lead toxicity.
- Dapsone toxicity.
- Porphyria.
- Diphtheria.
 Causes of thickened nerves (hypertrophic neuropathy) :
- Amyloidosis.
- CMT.
- Leprosy.
- Refsum’s disease.
- Neurofibromatosis.

 Investigations :-
- Blood tests : CBC (MCV), RBG, RFT, LFT, B12 & B1 levels,
inflammatory markers.
- EMG.
- NCS : axonal ? Demyelination ? / sensory? Motor?
Sensorimotor?
- CSF : increased protein in CIDP & CMT.
- Autonomic function testing : postural drop of > 20 mmHg
systolic BP, ECG : loss of sinus arrhythmia, cystometry :
bladder pressure studies, pupil tests (epinephrine, cocaine, …).

 Management in paraplegia :-
- Patient education.
- Physiotherapy.
- Occupational therapy.
- Bowel, bladder care, turning (bed sores).
- Walking aids.
- Treatment of the underlying cause.
- Social support.
 Hemiplegia

 After examination of the upper & lower limbs neurologically (tone, power,
reflexes, coordination, sensation),
 Examine :-
- Facial nerve.
- Hypoglossal & bulbar.
- Tell the examiner that you would like to examine the visual
acuity & field for homonymous hemianopia.
- Speech : aphasia ?!
 Examine :-
- Pulse rhythm.
- Carotid for bruit.
- Heart for murmur.
 Tell the examiner that you would like to do fundoscopy (especially young female).
 Clinical diagnosis :
- Crossed Hemiplegia .
- Uncrossed Hemiplegia.
 Where is the lesion ?! ( localization ) :-
 If crossed : the lesion in the brainstem (facial nerve palsy will be LMN).
 If uncrossed : the lesion is either in the cortex or internal capsule (facial nerve
palsy will be LMN).
 If : dense, power is equal in the upper & lower limbs with absence of cortical
localization internal capsule.
 If there is any feature of cortical dysfunction (aphasia) the lesion is in the
cortex. Also, loss of cortical sensations :
- Astereognosis.
- Agraphasthesia.
- Sensory inattention.
 Causes (DD) :-
- Vascular (infarction, hemorrhage).
- SOL (primary or secondary tumor, or granulomatous disease).
- Demyelination (MS).
- Vasculitis.
 Investigations :
- CT Brain early to exclude hemorrhage.
- Fasting lipid profile.
- CBC. – Inflammatory markers.
- UG. – Blood glucose.
- ECG. – Echo.
- Doppler U/S for carotid or vertebral artery.
 - MRI, MRA, CTA.

- In young, in addition to the above :-

- Antiphospholipids Abs.
- Other coagulopathies & thrombophilias.
- ANA + ANCA.
 Management :-
 In stroke : early admission to stroke unit.
 General measures :
- Nutrition & feeding (NGT if needed).
- Bowel & bladder care.
- Guard against bed sores (air mattress + turning).
- Physiotherapy.
- Speech therapy.
- Occupational therapy.
 Medical treatment :
- ASA : loading dose 300mg for one week then 75mg o.d.
- Other antiplatelet (combination therapy).
- Assess for the need for anticoagulation.
- Atorvastatin.
- Control of risk factors.
 Note :- in case of Hemiplegia the discussion (investigations & treatment) may be
about MS, especially in young female.

Definitions :-

 TIA : an acute loss of focal cerebral or ocular function with symptoms lasting
< 24 hr.
 RIND : reversible ischemic neurologic deficit.
 Stroke : rapidly progressive clinical symptoms & signs of focal (& at times
global) loss of cerebral function lasting > 24 hr or leading to death, with no
apparent cause other than that of vascular origin.

 Classification of stroke :-

- Total anterior circulation stroke.

- Partial anterior circulation stroke.
- Posterior circulation stroke.
- Lacunar syndrome.
 Cerebellar syndrome

 Examination :-
 Face :-
- Speech.
- Eyes : * Nystagmus * Dysmetric saccades * Broken pursuit.
 Upper limbs :-
- Rebound phenomena.
- Finger nose test : dysmetria, intension tremor.
- Dysdiadochokinesis.
- Tone.
- Reflexes.
 Lower limbs :-
- Heel - shin test.
- Reflex : pendular reflex.
- Plantar reflex.
- Notice if there are feet deformities.
 Then ask the patient to stand & examine for :
- Truncal ataxia.
- Romberg sign.
- Gait : if negative - Tandem walking.
 Tell the examiner that you would like to examine : (if bilateral cerebellar signs i.e.
cerebellar syndrome)
- Fundus (optic atrophy)
- For evidence of alcohol (liver size + jaundice + clubbing).
- For evidence of malignancy : paraneoplastic (clubbing, breast
CA).
 Possible cases :-
- Bilateral cerebellar syndrome (pure cerebellar).
- Unilateral cerebellar signs.
- Bilateral cerebellar + pyramidal +/- peripheral neuropathy.
- Others.

Bilateral cerebellar syndrome

 DD :-
 Elderly pt :-
- Alcohol.
- Hypothyroidism.
- Drugs.
- Paraneoplastic.
- SOL.
 - Vascular (if bilateral stroke).
- Demyelination (but not common in elderly).
 Young :-
- MS & ADEM.
- Friedreich’s ataxia.
- Spinocerebellar degeneration.
- Cerebellitis.
- Liver disease (Wilson’s).
- Alcohol.
- Hypothyroidism.
- Vasculitis.
- Drugs.
- SOL.
 Investigations :-
- MRI Brain.
- CBC. – Electrolytes.
- TFT.
- LFT + GGT.
- ANA – ANCA (in young, for Vasculitis).
- Anti Hu – Anti Yo (paraneoplastic).
- Genetic studies (in young: if other causes are excluded).
- CSF (MS).
 Management :-
- Education.
- Occupational therapy.
- Rehabilitation.
- Treatment of the underlying cause.

Cerebellar + Pyramidal

 Young :- (check for : optic atrophy, deafness, high arch palate, kyphoscoliosis,
feet deformities)
- Friedreich’s ataxia.
- Refsum’s disease.
- Hereditary spinocerebellar ataxia.
- Vasculitis.
- Wilson’s disease.
- Multiple space occupying lesions (mets, granulomas).
- MS.
- Vascular (stroke) : posterior circulation stroke.
- Subacute cobined degeneration of the cord.
 Elderly :-
- Vascular (stroke).
- Paraneoplastic.
- Multiple SOL (multiple mets, multiple granulomas).
- Vasculitis.
- MS (but not common in elderly).
- Subacute combined degeneration of the cord.
 Investigations & management :- the same as in the previous page.

Unilateral cerebellar signs

 Causes :-
- Cerebellpontine lesions.
- MS.
- Vascular (lateral medullary syndrome, AICA, or pure unilateral
cerebellar).
- SOL (primary or secondary tumor, or granulomatous disease).
 Examine the cranial nerves :-
- Eyes : look for Horner (lateral medullary syndrome), optic
atrophy (MS).
- V, VII, VIII (cerebellopontine angle lesion) or infarction.
- V, VII, VIII, X, XII + Horner : lateral medullary syndrome.
 If on examination there is contralateral pyramidal signs :
- Vascular (posterior stroke).
- MS.
- Vasculitis.
 Investigations :-
- MRI, MRA, & CTA.
- DM, & cholesterol.
- Investigations of MS.

 Dr Sabah Tayfour
 Mar. 2014
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
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
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

Carpopedal spasm
 Baliga379

Carcinoid syndrome
 Baliga 381
Counselling
Genetics
 Introduction
o What she understands about the condition
o Why she wants the test – must not be coerced
o ICE
 Clarify about the Index case – diagnosis and accuracy
o Draw a family tree (parents, siblings, cousins, aunts and uncles)
o Is she married
o Is there a confidante (should not be someone who is also at risk)
 Explain the condition (check what she knows and what she wants to know)
o Nature – symptoms and signs
o Treatment
o Prognosis
o AR, AD, X-linked
 Explain procedure of test
o Pre-test counselling, referral to regional genetic center
o Test itself: Blood test, genetic make-up
o False positive and false negative
o Post test follow up, assignment of counsellor
 Implications
o Medical, worry
o Social – job, marriage, children
o Financial - insurance, social security
o Careful as the test may reveal status of relative who does not want to know
o Careful as the test may reveal other information such as parent may not be the
biological parent
o May need DNA from a relative who may not want to do or know the test
 Plan
o Advice to make another appt in 1 month’s time to think about it
o Options – not taking the test, deposit for research of future use
o There is time – no need to make the decision now
o Referral to regional genetic center if she wants to proceed with the test
 Multidisciplinary team consisting of a neurologist, geneticist, MSW,
psychiatrist
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).

The apex beat is not displaced and is located in the 5th 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 <2 cm, normal life expectancy with no symptoms
o Larger defects may present in the second or third decades with dyspnea or
fatigue
o defect in the fossa ovalis with no involvement of the AV valves
o Ostium primum type
 o 10%
o Failure of fusion of the septum primum with the endocardial cushions
o AV valves affected – MR, TR and VSD
o Sinus venosus type
o Defect in the septum just below the entrance of the SVC (inverted P waves
in the inferior leads)

How do patients present?

o Secundum
o Asymptomtic
o Symptomatic
 Fatigue, dyspnea
 Right heart failure
 AF
 Recurrent pulmonary infections
 Paradoxical emboli
o Primum
o In addition to the above
 Failure to thrive, poor development
 IE
 Syncope (heart block)

What are the complications of ASD?

o Pulmonary hypertension, heart failure, Eisenmenger’s
o AF, IE (primum defects)
o Recurrent chest infection, paradoxical emboli

What are the various types of murmurs that can be associated with ASD and what do they
mean?
o Pulmonary ejection systolic murmur and mid-diastolic murmur at the triscuspid
area implies increased flow of blood through the pulmonary and triscupid valve
respectively due to left to right shunting of blood via the ASD
o MS murmur means acquired Rh heart disease affecting the mitral valve in
Lutembacher’s syndrome
o MR, TR or VSD murmur implies that ASD is of the ostium primum type

What is the mechanism of a split second heart sound?

o A split S2 is caused physiologically during inspiration because the increase in
venous return overloads the right ventricle and delays the closure of the
pulmonary valve

Why is there wide and fixed splitting of the second heart sound in ASD?
o With an atrial septal defect, the right ventricle can be thought of as continuously
overloaded because of the left to right shunt, producing a widely split S2, with the
pulmonary valve closing much later cf to the aortic valve
 o It is fixed because the atria are linked via the defect, inspiration produces no net
pressure change between them, and has no effect on the splitting of S2

How do you differentiate between a flow mumur through the pulmonary valve vs a PS
murmur?
o PS murmur is a/w P2 that is soft, delayed and varies with respiration

What are the conditions that can cause a wide splitting of the second heart sound?
o Increase RV volume – ASD, VSD, PR
o Increase RV pressure – PS
o RV conduction delay –RBBB
o Increase LV emptying – MR, VSD

What is Eisenmenger’s syndrome?

o It implies a reversal of a left to right shunt as a result of the development of
pulmonary hypertension
o This occurs in conditions such as ASD, VSD or PDA
o Patients are markedly clubbed and deeply cyanosed
o The defect must not be repaired once this complication occur due to high
mortality risk

What is Lutembacher’s syndrome?

o Acquired Rh MS
o ASD

What is Fallot’s trilogy?

o ASD
o RVH
o PS

What is Holt-Oram syndrome?

o ASD secundum type
o Hypoplastic thumb with accessory phalanx
o Autosomal dominant

How would you investigate?

o ECG
o Secundum – Partial RBBB, RAD
o Primum – LBBB, LAD, low atrial rhythm
o Sinus venosus – inverted P in inferior leads
o Pulmonary hypertension – p pulmonale, RVH
o CXR
o Cardiomegaly
o Pulmonary hypertension
 Prominent pulmonary trunk
 Enlarged RA and RV
 o Shunt vascularity/pulmonary plethora (well visualised pulmonary arteries
in the periphery of the lung
o Small aortic knob
o Echocardiogram
o Diagnosis - demonstrate the defect
o Cardiac catheterisation
o Determine the severity and direction of shunt

How would you manage?

o Counsel
o Medical
o No antibiotic prophylaxis required, repaired or unrepaired
o Treatment of complications such as heart failure and AF
o May consider anticoagulation if there is evidence of bidirectional shunting
to prevent strokes from paradoxical emboli
o Surgery
o Early childhood – closure is recommended at 5-10 years of age to prevent
complications
o Small ASDs can be left alone(5 mm or less)
o Large ASDs or pulmonary to systemic flow ratio>1.5
o Closed surgically or transcatheter button or clam-shell devices
o Closure prevents pulmonary hypertension and RHF but does not alter
incidence of AF

How would you counsel a patient with ASD who intends to get pregnant?
o Pregnancy is well tolerated in patients with small and hemodynamically
insignificant ASD
o For large defects with pulmonary hypertension, 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
Footdrop
Approach
 Bilateral
 LMN
 Peripheral neuropathy (see peripheral neuropathy)
 UMN
 Cord lesion
 Unilateral
 Once dorsiflexion impaired
 Check eversion (Common peroneal nerve = dorsiflex and eversion)
 Check inversion and plantarflex = posterior tibial nerve
 If foot drop and inversion and eversion is lost with normal plantarflexion,
then L5 nerve root
 If all gone = posterior tibial+common peroneal, sciatic nerve or
plexus/roots
 Knee flexion intact
 Go to sensory
 Peripheral neuropathy
 Common peroneal nerve palsy (sensory loss over dorsum of the foot)
 Determine if common peroneal nerve or
 Deep branch only or
 The superficial branch only
 If knee flexion weak, test hip abduction and internal rotation and intact
 Go to sensory
 Sciatic nerve
 If hip abduction and internal rotation is weak
 Go to sensory
 Nil = anterior horn cell
 L4 and L5 dermatome = plexus or root
 Once site is located, go for the cause
 Note walking aids

Questions
 Common peroneal nerve palsy (L4 and L5)
 Anatomy
 the sciatic nerve divides at the popliteal fossa into the tibial and common
peroneal nerves
 The posterior tibial nerves effects plantar flexion and inversion of the foot
 The common peroneal nerves winds round the neck of the fibula, covered
by s/c tissue and skin only and prone to extrinsic compression
 It then divides into the
 Superficial branch: foot everters and sensation to lateral calves and
dorsum of the foot
 Deep branch : toe dorsiflexors and dorsiflexion of the ankle and
sensation to the first interdigital web space
 Therefore wasting of the peroneous and anterior tibialis muscles; weakness
of dorsiflexion of the foot and eversion; foot drop and high steppage gait
 and loss of sensory over the lateral aspect of the calf and dorsum of the
foot
 Causes of mononeuropathy (3 Sx and 3 Medical causes)
 Trauma
 Surgical
 Compression at the neck of the fibula (habitual leg crossing, cast, brace)
 Infection – Leprosy
 Inflammatory – CIDP
 Ischaemic - Vasculitis
 Part of mononeuritis multiplex (Endo, AI, infection, infiltrative and
cancer)
 Ix = NCT and EMG
 Mx
 PT/OT – 90 degrees splint at night
 Sx – for severed nerve or excision of ganglion
 Sciatic nerve (L4 L5 S1 S2)
 Weakness of the knee flexion also
 Knee jerk is intact but ankle jerks affected and plantar response absent (for
common peroneal nerve, all reflexes intact)
 L5 nerve root
 Weakness of hip abduction and internal rotation as well as loss of foot
inversion (cf with common peroneal nerve)
Peripheral Neuropathy
(Think: Sensory, motor, or mixed. Are nerves palpable nerves?)
Presentation 1
 Sir, this patient has predominantly sensory peripheral neuropathy as evidenced by
o Loss of sensation to pinprick and light touch and
o Impairment of vibration and joint position sense
o In a stocking distribution
 The motor system is intact; I did not notice any
o Wasting or fasciculations of the lower limb muscles
o Tone and reflexes are normal with downgoing plantars
o Power is normal
OR
 Sir, this patient has mixed motor and sensory peripheral neuropathy as evidenced by
o Loss of sensation to pinprick and light touch and
o Impairment of vibration and joint position sense
o In a stocking distribution
 Associated with
o Wasting and fasciculations of the lower limb muscles
o Reduced tone and reflexes with downgoing plantars
o Diminished power of 4 in the lower limb muscles especially affecting
plantarflexion, dorsiflexion and flexion and extension of the knees bilaterally
AND
 There is presence of
o Loss of hair on the lower half of the legs bilaterally
o No charcot joints
 The most likely underlying aetiology is diabetes mellitus as I noticed
o Presence of diabetic dermopathy
o I screened for other possible causes:
 No thickened nerves or hypopigmentation patch (leprosy)
 Parotidomegaly, dupytren (chronic ethanol ingestion)
 Not sallow (uremia)
 Not pale (B12 deficiency)
 Not cachexic and no clubbing of toes (paraneoplastic)
 No symmetrical deforming polyarthropathy (RA)
 No clinical features of acromegaly, hypothyroidism
 I would like to complete the examination
o Gait (if not done) to look for high steppage gait (sensory ataxia)
o Upper limbs for distal sensory impairment although I noticed that there is no
obvious wasting of the hands
o Urine dipstick for glycosuria (DM)
o Ask history
 Drug history – INH, nitrofurantoin, phenytoin, chloroquine,
penicillamine, vincristine, cyclosporine A
 Chronic ethanol ingestion
Presentation 2
 Sir this patient has predominantly motor neuropathy as evidenced by
o Wasting and fasciculations of the lower limb muscles
o Reduced tone and reflexes
o With diminished power of 4 affecting knee flexion and extension as well as
plantar and dorsiflexion
 Sensation is intact with normal pinprick sensation, vibration sense and propioception.
 The most likely aetiology in this patient is
o diabetes mellitus as I noticed presence of diabetic dermopathy in the lower
limbs
o Other possible aetiologies for a predominantly motor peripheral neuropathy
 Drugs – cyclosporine A, Gold, penicillamine
 Pb, Hg
 Metabolic – DM and AIP
 Infectious/Inflammatory – HIV, GBS, Amyloid, sarcoid
 PAN
 HSMN type 1

Questions
What are the causes of peripheral neuropathy (mixed, sensory and motor)?
 DAMIT BICH
o Drugs
 INH, nitrofurantoin, chloroquine
 Penicillamine, gold, cyclosporin A, phenytoin
 vincristine, cisplatinum
o Alcohol, Arsenic(Mees, raindrop pigmentation), Pb(wrists and Pb lines in
gums), Hg
o Metabolic – DM, Uremia, AIP
o Infectious - Leprosy, HIV, botulism, diphtheria
o Inflammatory – GBS (look for facial diplegia), CIDP
o Tumor – paraproteinemia, paraneoplastic (Ca Lung), Hodgkin’s
o B12, B6 and B1
o Infiltrative – Amyloid (look for thickened nerves and autonomic), sarcoid
o Immunological – PAN, SLE, RA
o Congenital – HMSN, Refsum’s disease, porphyria
o Cryptogenic
o Hormonal – Acromegaly, hypothyroidism, hyperthyroidism
o POEMS (Polyneuropathy, Organomegaly, Endocrinoapthy, Monoclonal
gammopathy, Skin changes – a/w osteosclerotic myeloma)
(NB: DM can be sensory, motor or mixed)

What are the causes of a painful peripheral neuropathy? (DAB, CAP)

 DM, Alcohol, B12 deficiency
 Carcinoma, porphyria, Arsenic
What are the causes of thickened peripheral nerves?
 Median nerve (wrist), ulna nerve (elbow), common peroneal nerve (head of fibula),
Greater auricular nerve (neck)
 CHAOS
o CIDP
o HMSN
o Acromegaly, Amyloid
o Others
 LS DNR – Leprosy, sarcoid, DM, Dejerine Sotta disease (hypertrophic
peripheral neuropathy), NF, Refsum’s disease (retinitis pigmentosa,
optic atrophy, cerebellar and deafness, cardiomyopathy ad ichthyosis)

What are the causes of mononeuritis multiplex (separate involvement of more than one
peripheral or cranial nerve by the same disease)?
 Endocrine
o DM, Hypertension, Acromegaly
 AI
o RA, SLE, PAN, Sjogren, Churg-Strauss, Wegener’s
 Infection
o Leprosy, Lyme, HIV
 Infiltrative
o Amyloid, sarcoid
 Carcinomatosis

What are the types of neuropathy in DM?

 Symmetrical sensory neuropathy (glove and stocking)
 Predominantly motor, asymmetrical (diabetic amyotrophy)
 Mixed motor and sensory peripheral neuropathy
 Mononeuropathy
 Mononeuritis multiplex
 Autonomic neuropathy

What are the neurological complications of alcohol?

 Wernicke’s (confusion, ophthalmoplegia, cerebellar, neuropathy)
 Korsakoff’s psychosis (recent memory loss and confabulation)
 Cerebellar degeneration
 Central pontine myelinosis
 Epilepsy
 Myopathy and rhabdomyolysis
 Peripheral neuropathy
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, flamed-shaped 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; Central scotoma
loss of 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

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
Mixed Aortic Valve Disease

Sir, this patient has got mixed aortic valve disease and the predominant lesion is
Aortic Stenosis
1. small volume pulse
2. heaving and undisplaced apex beat
3. Loud and harsh systolic murmur
4. associated with systolic thrill

Aortic regurgitation
1. Collapsing pulse
2. Displaced and thrusting apex beat
3. Soft systolic murmur
4. No systolic thrill

My findings are:
o Presence of an ESM heard best at he aortic area that radiates towards the
carotids. It is a grade 4/6/ murmur and it is associated with a systolic thrill. It
is severe as it is associated with an early ejection click with a long systolic
murmur with late peaking. There is no S4 detected and the second heart sound
is soft; I could not detect a paradoxial splitting of the second heart sound.
o There is also an EDM heard bset at the LLSE and is loudest in expiration with
the patient sitting forwards. It is a grade 3/6 murmur and is not associated with
any diastolic thrill. (skip the severity markers for AR)
o Apex
o CCF
o IE, SR and small volume, haemolytic anaemia
o Request BP especially for narrow pulse pressure, Temperature chart and
enquire symptoms of angina, syncope and dyspnea.
o In summary

o Presence of an EDM heard best at the LLSE and is loudest in expiration with
the patient sitting forwards. It is a grade 3/6 murmur as it is not asssociatd with
ay diastolic thrill. The second heart sound is soft and there is no third hear
sound. There is also no mdm at the paex to suugest an Austin Flint murmur.
o There is also an ESM heard best at the aortic area that radiates towards the
carotids. It is a grade 2/6/ murmur and is not associated with any systolic thrill.
(skip the severity markers for AS)
o Apex
o CCF
o IE, SR, collapsing, brachial dance and Corrigan’s
o No quinke, muller’s de Musset’s, Duroziez and Traube’s
o No Marfans, AS or RA
o Requests for BP especially for a wide pulse pressure, temperature chart.
o In summary

Questions
What are the causes of a mixed aortic valvular lesion?
o Rheumatic heart disease
o Biscupid aortic valve
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
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)

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
 Onset in the 3rd or 4th 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
 Pacemaker for 3rd degree heart block or symptomatic such as syncope

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
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

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
Mitral Valve Prolapse (Floppy MV, Barlow’s syndrome, Click-murmur syndrome)

Presentation
Sir, this patient has got a MR that is severe and secondary to a mitral valve prolapse.

I say this because there is a presence of a mid-systolic click associated with a late systolic
crescendo-decrescendo murmur heard best at the apex.

This murmur radiates towards the axilla and is a grade…..(present as for MR)

I would like to complete my examination by asking the patient to perform the valsalva
manoeuvre as well as to stand to accentuate the murmur; take BP and temperature chart
as well as a neurological examination for signs of stroke.

Questions
What causes a mid-systolic click?
o Inability of the papillary muscles or the chordae tendinea to tether the mitral
valves in the late stages of systole
o The prolapsing of the valve leaflet into the LA and sudden tensing of the mitral
valve apparatus causes the mid-systolic click

What are the differential diagnoses for a systolic murmur?

o AS
o PS
o MVP
o HOCM

What are the causes and associations of a MVP?

o Myxomatous degeneration of the mitral valve tissue
o Associated with
o Heart conditions
 ASD (Secundum type)
 Cardiomyopathy
 Myocarditis
o Systemic conditions
 Marfan’s syndrome
 Ehlers danlos syndrome
 Osteogenesis Imperfecta
 Polycystic Kidney disease
 SLE

What manoeuvres can accentuate the findings of an MVP and why?

o Valsalva manoeuvre and standing
o Decrease preload
o Reduction in the cardiac volume
 o Further imparing the papillary muscles or chordae tendinea from maintaining
tension on the leaflets and preventing the leaflets from prolapsing into the LA
o Hence the systolic click occurs earlier with a longer duration of the systolic
murmur

How do patients with MVP present?

o Asymptomattic
o Symptomatic
o Palpitations
o Anxiety
o Atypical chest pain
o Light-headedness
o Complications of MR
o CCF – fatigue and dyspnea
o IE
o Arrythmias
o Embolic phenemenon
o Sudden death

How would you Ix?

o Echocardiogram
o Confirm Dx
o Complications of MR

How would you manage?

o Education and reassurance
o Medical
o Antibiotic prophylaxis
 Only if associated with MR
 Otherwise not necessary if just MVP
o Symptomatic
 Palpitations Rx with beta blockers (benign ventricular ectopy)
o Rx underlying cause or associations
o Rx complications such as MR with CCF, IE or AF or TIA
o Surgical
o As for MR
Counselling - HIV Testing
Scenarios
1. Patient wants a test
2. Patient referred to clinic for a possible AIDs defining illness
3. Screening – Pregnancy, blood donation, insurance

Introduction
 The standard steps applies
 For scenario 1, find out why he wants a test
 For scenario 2, find out about his condition eg SOB and explain the results of Ix
which led to possible diagnosis of HIV; then do an ICE on him

Task – 5 stages (explore patient’s ICE after each stage)

 Explain nature of HIV infection
o Transmission
o Difference HIV and AIDs
o How to reduce transmission
 Explore his risk activities, last date of such a risk and perception of need of test
o Sex
o Drugs
o Blood products
o Occupational risk, tattooing, travel
o Previous HIV test
 Benefits and difficulties
o Advantages
 Patient – allow appropriate medical care, prophylactic care, future
decisions, reducing anxiety about not knowing
 Loved ones or others – subsequent sexual partners, spouse, vertical
transmission
o Difficulties
 Anxiety
 Impact on family, partners and work
 Insurance
 Explore how he would take it if test is positive
 Details of test
o Test procedure – blood test, detection of antibodies to HIV, sensitive test and
if negative no retesting; if positive, will do a confirmatory test
o Results ready within 24 hours
o Confidentiality
o Negative results – no Ab detected implying that no HIV or window period
(usually 3 months but maybe longer; therefore repeat 3-6 month’s later if
recent exposure)
o Positive results – very rarely it is a false positive
o Indeterminate – follow up blood test for direct virus testing and repeat Ab
testing; could be seroconversion period
 o Who he wants to inform him of test result (eg GP), and who he wants to be
present
o Who to share result with – regular sexual partner, GP
o Post test counselling, support group, lealets, internet, phone no
 Informed decision and consent form voluntarily

Closing
 Summarise
 Advice and that he need not decide right away
 Advice on current problem and treatment plan
 Avoid transmission
 Ask if he wants to screen for other STDs, Hep B, C and Syphilis
 Special situation – pregnant mother
o TOP (24 weeks in UK)
o Prophylactic treatment with AZT to reduce vertical transmission
o Avoidance of breast feeding
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/FVC<70 and FEV1<80
o Mild – 50-80%
o Mod – 30-50%
o Severe - <30%
 Exclude differential diagnoses
o Asthma (>400mls to dilators or PO pred 30mg OM 2 weeks or
variation in PEFR >20%)
o Cancer
o Bronchiectasis
o ILD
How do you grade the severity of dyspnea?
 MRC scale
o 1 – SOB on strenuous exercise
o 2 – on hurrying or up hill
o 3 – walks slower than contemporaries and stops for breaths
o 4 – stops for breath after walking 100m
o 5 – SOB on ADLs

How would you investigate admitted with an acute exacerbation?

 FBC (anaemia, polycythemia), biochemical, theophylline levels, ABG
 Blood C/S if febrile
 CXR
 Spirometry
 ECG, 2D echo

How would you manage?

 Non-pharmacological
o Stop smoking
o Regular follow up (if >500 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
 FEV1<50%
 2 or more exacerbations a year requiring antibiotics or
steroids
 Prophylaxis against osteoporosis (once >65)
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 <55 mmHg
 PaO2 <60 mmHg and presence of
 Polycythemia
 Pulmonary hypertension
 Cor Pulmonale
 Nocturnal hypoxemia
 For at least 15 hrs/day if not 20 hrs
o Cor pulmonale
 Diuretics
o Polycythemia
 >55% consider venesection
 Surgical
o Bullectomy
 Single large bulla
 FEV1<50%
o LVRS
 Upper lobe bullous involvement
 FEV1>20%
 TLCO >20%
 PO2 <45
o Transplant

When would you order a AAT levels?

 COPD with
o Young
o Family H/O
o No smoking history
 Not recommended for AAT replacement if present; treat the COPD

How would you advice on air travel?

 FiO2 at 15% - hypoxemia
 Pressurised at 8000 ft – pneumothorax
 Assessment
o H/O and PE and H/O of problems encountered during previous flight
o Spirometry
o SpO2 <95% on RA
 50m walk test
 Hypoxic challenge test
 Bring inhalers in the hand luggage
 Inform the airline
 See Link to Air Travel Advice
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
 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
Approach to Examination of the Face
(I) Assessment of Higher Cortical Function
(II) Approach to the examination of the Eyes
(III) Cranial Nerves
 Isolated CN abnormalities
 Multiple CN abnormalities
Conforming
 Cavernous sinus syndrome
 Superior Orbital syndrome
 Cerebellar Pontine Angle
 Syringobulbia
 Lateral Medullary syndrome
 Medial Medullary syndrome
 Bulbar Palsy
 Pseudobulbar Palsy
 Jugular Foramen syndrome
Non-conforming
 Brainstem Stroke
 Multiple sclerosis
 Base of skull metastasis/leptomeningeal metastasis/NPC
 Basal meningitis
 Paget’s disease
 Myasthenia Gravis
 Miller Fisher Syndrome
 Guillain Barre Syndrome
 Mononeuritis multiple
 Migraines (Paralytic)
(IV) Speech
 Dysarthria
 Cerebellar Speech
 Bulbar Palsy
 Pseudobulbar Palsy
 Slurred Speech (VII )
 Parkinson’s Syndrome
 Dysphasia
 Expressive
 Receptive
 Nominal
 Conductive
 Global
 Dysphonia
 Recurrent Laryngeal Nerve Abnormality
 VC abnormalities
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(4cm</1-2FB)
 Myeloproliferative, Lymphoproliferative
 Infections
 Viral – CMV,EBV
 SBE, splenic abscesses, leptospirosis, Meliodosis, TB, Typhoid,
Brucellosis(farmer)
 Acute malaria
 Infiltrative – Amyloidosis, Sarcoidosis
 Endocrine – Acromegaly, thyrotoxicosis
 Collagen vascular – SLE, Felty’s
 Chronic haemolytic – Thalassemia, AI, HS, ITP

Tender
 Infective causes
 Acute myeloproliferative and lymphoproliferative

Pallor
 Myeloproliferative
 Lymphoproliferative
 Malaria
 Hemolytic anaemia(Thalassemia and AIHA)
 AI – Felty’s, SLE
 Cirrhosis of the liver with portal hypertension

Lymph Nodes
 Lymphoproliferative(CLL/lymphoma)
 Infective(IMS, Meliodosis, CMV, TB, HIV)

Questions
What are the causes?
See above

What are the features of an enlarged spleen in contrast to an enlarged left kidney?
 Palpation
o Unable to get above it
o Notch border
o Not bimanually palpable or ballotable
 Percussion note over the mass is dull from the left 9th rib in the mid-axillary line
extending inferior-medially in the axis of the 10th rib
 Inspection shows that the mass moves inferior-medially with inspiration rather
than inferiorly
 Auscultation may reveal a splenic rub

Is a normal spleen palpable or percussible?

 A palpable spleen implies that is at least twice enlarged
 A normal spleen can be percussed along the 9th, 10th and 11th rib but is not
percussible beyond the anterior axillary line

How would you Ix?

How would you manage?

Notes on conditions (See History Section)

Ascites
(Think of CLD, Budd-Chiari, renal failure or heart failure, hypothyroidism, also
malignancy, TB)
Presentation
Sir, this patient has gross ascites.

There is presence of abdominal distension with an everted umbilicus. There is a positive

fluid thrill as well as shifting dullness. This is not associated with any abdominal
tenderness and patient is able to lie flat for the examination. There is also abdominal scar
marks suggesting abdominal tap has been done.

I am unable to palpate the liver and it has a span of 12 cm in the right mid-clavicular line.
The spleen is not palpable or percussible. The kidneys are not ballotable. There are no
other masses palpable in the abdomen.

There are no stigmata of chronic liver disease such as leukochynia, clubbing, palmar
erythema, spider naevi, gynaecomastia or loss of axillary hair. There is also no hepatic
fetor or a hepatic flap. Patient is not jaundice and there is no conjunctival pallor.

There is associated pedal edema up to the knee level with sacral edema but no periorbital
edema. There are no signs of renal failure such as a sallow appearance or uremic fetor.

Patient also does not have any features to suggest hypothyroidism such as a cream and
peaches complexion, macroglossia, hoarseness of voice or bradycardia.

He is not cachexic looking and there are no palpable cervical LNs. He is not toxic
looking.

I would like to complete my examination by

 CVS looking at the JVP with the patient seated 45 degrees to look for raised JVP
with steep x and y descent, early S3 suggestive of constrictive pericarditis
 Urine dipstick for proteinuria
 Temperature chart for fever (TB)
 Rectal examination for a rectal mass

In summary, this patient has got gross ascites that is not associated with any intra-
abdominal organomegaly or masses of which no apparent cause is found clinically. The
possible differential diagnoses include cirrhosis of the liver, Budd-chiari syndrome,
nephrotic syndrome or protein-losing enteropathy, congestive cardiac failure or intra-
abdominal malignancy or TB.

Questions
What are the causes of abdominal distention?
 Fat, fluid, flatus, faeces, fetus and organ enlargement
What is ascites?
 Pathologically accumulation of fluid in the peritoneal cavity

How much fluid must be present before there is flank dullness?

 1.5 L of ascitic fluid

How would you approach a patient with ascites clinically?

 Abdominal examination
o Liver
 Look for jaundice, spleen and stigmata of CLD – cirrhosis of liver
 Liver palpable and smooth – think of Budd-chiari
 Liver palpable and hard and nodular – think of malignancy
o Kidneys
 Look for evidence of kidney failure and anasarca
o Look for congestive cardiac failure or constrictive pericarditis
o Look for features of hypothyroidism
o If all above absent, think of
 TB peritonitis
 Intra-abdominal malignancy
 Carcinomatosis peritonei
 Secondaries
o Liver
o Colon
o Ovaries
o Pancreas

What are the causes of ascites?

 Serum ascites albumin gradient >1.1g/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 <0.1% of Cx such as hemperitoneum or bowel perforation
o 1% of abdominal wall hematoma
o 2FB cephalad and medial to the ASIS in the left lower quandrant
 Imaging
o USS/CT
 Liver – cirrhosis, budd-chiari
 Renal
o Echo and ECG
o CXR (TB, Pl effusion)
 Bloods
o LFT, Renal, TFT, FBC

How would you manage a patient with ascites secondary to cirrhosis of the liver?
 Treat the underlying cause
 Avoid alcohol or medications that are toxic to liver
 Management of ascites
o General measures
 Salt restriction <2 g/day
 Fluid restriction <1l/day (for ascites, edema with Na <130)
o Specific measures
 Diuretics (Spironolactone, frusemide initially)
 Aim to 0.5kg/day if no peripheral edema
 Aim 1kg/day if presence of peripheral edema also
  Increase diuretics with spironolactone up to 400mg/d or frusemide
160mg/d
 Paracentesis
 If >5L then requires albumin administration (8g per L of fluid
removed)
 TIPSS (Transjugular Intrahepatic portosystemic shunt)
 High rate of shunt stenosis; up to 75% at 1 year
o Liver transplant
 5 year survival rate for cirrhosis with ascites is 30-40% vs 70-80% for post
liver transplant
 MELD score (Model for End Stage liver disease which has bilirubin,
creatinine and INR)
 Consider for those with refractory ascites, SBP or HRS
 Manage other complications of cirrhosis

How do treat and prevent spontaneous bacterial peritonitis?

 Defined as >250 polymorphs per ml of ascitic fluid
 Commonly E coli, Klebsiella and pneumococci
 Translocation of bacteria from intestinal lumen to LNs then bacteremia
 Rule out secondary peritonitis
o Loculated infection or perforated viscus
o Fluid
 >1000 polymorphs
 LDH > upper limit of serum
 Low glucose
 High protein >1 g/L
 CEA > 5ng/ml
 ALP >240u/L
 Treatment
o 3rd 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<1g/dl (controversial)
o Prophylaxis with ciprofloxacin or norfloxacin

What does development of ascites in a patient with cirrhosis of the liver means?
 Decompensation
 Occurs in 50% of patients within 10 years of diagnosing compensated cirrhosis
 Poor Px
o only 50% survive beyond 2 years
o poor quality of life
o increased risk of infection and renal failure
Hepatosplenomegaly
Presentation
Sir this patient has hepatosplenomegaly without evidence of cirrhosis of the liver.

(I say this because enlarged masses in the right and left hypochondrial regions of
which I am unable to get above theses masses and is not bimanually palpable or
ballotable. Hence, these are unlikely to be due to kidney masses.)

The liver is enlarged

 Size, edge, surface, consistency, tender, bruit or pulsatile
The spleen is enlarged
 Size, edge, surface, consistency, tender
Kidneys are not enlarged and no associated ascites

Peripheral examination
 CLD stigmata, jaundice, bruises
 Hepatic encephalopathy
 Causes
o Pallor, cachexia, Cx LNs, PRV
o Toxic, rashes, tonsils
o Chronic ethanol ingestion
o CCF
o SBE, SLE, RA, Hemolytic anaemia

I would like to complete the examination

In summary, this patient has hepatosplenomegaly that is associated with. The

differential diagnoses are:

(Determine which is the predominantly enlarged organ eg massive liver with small
spleen or massively spleen with small liver; determine if there is any Cs liver findings
such as pulsatile liver; if both are mildy enlarged then combine the causes)

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
 Haemotological – AI, ITP, Thalassemia and HS
 Chronic malaria
 Cirrhosis
Mildly Enlarged(4cm</1-2FB)
 Myeloproliferative, Lymphoproliferative
 Infections
 Viral – CMV,EBV
 SBE, splenic abscesses, leptospirosis, Meliodosis, TB, Typhoid,
Brucellosis(farmer)
 Acute malaria
 Infiltrative – Amylodosis, Sacoidosis
 Endocrine – Acromegaly, thyrotoxicosis
 Collagen vascular – SLE, Felty’s
 Chronic haemolytic – Thalassemia, AI, HS, ITP

Tender spleen
 Infective causes
 Acute myeloproliferative and lymphoproliferative

Pallor(same as moderately enlarged spleen)

 Myeloproliferative
 Lymphoproliferative
 Malaria
 Hemolytic anaemia(Thal and AIHA)
 AI – Felty’s, SLE
 Cirrhosis of the liver with portal hypertension

Lymph Nodes
 Lymphoproliferative(CLL/lymphoma)
 Infective(IMS, Meliodosis, CMV, TB, HIV)

Massive Liver
 HCC/Secondaries/myeloprolif
 RVF
 Alcoholic liver disease

Mild-moderate Liver
 As above plus
 Infection
 Viruses – EBV, CMV, hepatitis A & B
 Bacteria – Weil’s disease (leptospirosis), meliodosis, abscesses, TB,
brucellosis, syphilitic gumma
 Protozoal – hydatid cysts, amoebic abscess
 Malignancy – lymphoproliferative, myeloproliferative, primary, secondary,
adenoma from OCP
 Infiltrative – sarcoid (erythema nodosum, lupus pernio), amyloid, fatty liver
 Endocrine – acromegaly, hyperthyroid
 Collagen Vascular disease
 Chronic hemolytic anaemia( AI, thalassemia, HS)
 Reidel’s lobe
 Possibility of minimal CLD signs with just hepatomegaly
  PBC
 Hemochromatosis

Tender Liver
 Liver abscess/infective (viral/bacterial/parasitic)
 HCC/Secondaries
 Right Heart Failure/Budd chiari

Pulsatile Liver
 TR
 HCC
 AVM

Hard/Irregular Liver
 Mitotic (primary/Secondary)
 Macronodular cirrhosis (post hepatitis B/C, Wilson’s and AAT)
 Amyloidosis/Hydatid cyst/granulomatous disease/gummatous disease/APCKD

Questions
What are the causes?

How would you investigate?

How would you manage?

(See notes on individual causes in Splenomegaly and Hepatomegaly)

Bilateral Enlarged Kidneys
Presentation
Sir, this patient has bilateral enlarged kidneys. There are bilateral masses in the flanks
which are bimanually palpable and ballotable with a nodular surface. Of note, I am
able to get above both masses. Percussion note was resonant over both kidneys and
they move inferiorly with respiration. They are not tender in nature and there was no
renal bruit.

There is no associated hepatomegaly and the liver span is 12 cm at the right mid-
clavicualar line. The spleen is not enlarged. There is no ascites detected clinically and
the bladder is not palpable or percussible.

The patient does not have a sallow appearance and not cachexic looking. There are no
pruritic scratch marks or bruising. There is also no leukonychia or Terry’s nails. There
is no conjunctival pallor to suggest anaemia and no features of polycythemia such as a
plethoric facies or conjunctival suffusion. Patient is not in fluid overload as there is
no pedal oedema, he is able to lie flat and is not oxygen dependent. There is no
Kussmaul’s breathing pattern and also no flapping tremor or uremic fetor.

He does not have any acromegalic features, no DM dermopathy and no adenoma

sebaceum to suggest tuberous sclerosis.

There is no evidence of renal replacement therapy such as AVF, TK cathether or a

transplanted kidney.

I would like to complete my examination by

 checking the patient’s temperature chart for fever,
 blood pressure for hypertension
 fundoscopy for hypertensive changes
 urine disptick for hematuria, proteinura and pyuria
 Cardiovascular examination for signs of MVP or AR
 Neurological examination for a third nerve palsy secondary to berry aneurysm or
any evidence of a stroke
 FHx of aneurysm or SAH (5% risk overall but 20% if positive FHx)

In summary, this middle age gentleman has got bilateral enlarged kidneys with no
complications of chronic renal failure detected clinically. There is also no evidence
that the patient is undergoing renal replacement therapy. The most underlying
etiology is Adult Polycystic kidney disease.

Questions
What are the causes of bilateral enlarged kidneys?
 APCK
 Commoner
o Acromegaly (hepatosplenomegaly)
o Early diabetic nephropathy
o Bilateral hydronephrosis
 Rare
o Tuberous sclerosis
 o Amyloidosis
o Von-Hippel Lindau disease
 Autosomal dominant
 Multiple angiomata in the retina, CNS
 Cysts in liver, kidneys pancreas
 RCC, phaeochromocytoma

What are the conditions that can result in bilateral renal cysts?
o Polycystic kidneys
 Dominant and recessive
 Simple cyst
 Von Hippel Lindau
 Tuberous sclerosis

What are the complications of APCK? (Renal and Extra-renal Cx)

 Fever
o UTI, pyelonephritis, pyocyst
 Hypertension (75%)
o Activation of RAA from intra-renal ischaemia from architectural distortion
o Malignant hypertension
 Renal artery stenosis from compression
 Renin producing cyst
 Pain
o Chronic pain
o Acute pain
 UTI
 Nephrolithiasis
 Cyst rupture
 Haemorrhage into cyst
 Upper tract obstruction
 Massively enlarged cyst
 Clot
 Stone
 Anaemia
o CRF
o Persistent gross hematuria
 Polycythaemia
o Increased erythropoietin production
 Malnutrition
o CRF
o Bilateral renal enlargement with early satiety
 Acute renal failure
o Malignant hypertension
o UTI
o Nephrolithiasis (Uric acid)
 Chronic renal failure
 Renal cell carcinoma (rare)
 Extra-renal
 o Abdominal – cysts in liver, spleen, pancreas, ovaries; colonic diverticular
disease
o Cardiac – MVP(25%), AR, TR
o Intracranial aneurysm (III nerve palsy), SAH (3%)

What are the complications of CRF?

 Fluid
 Electrolytes – Hyperkalaemia
 Acid-base – Metabolic acidosis
 Uremia and its complications
 Hypertension
 Anaemia (NCNC)
 Secondary and tertiary hyperparathyroidism
 Renal bone disease

Why are patients with CRF sallow?

 Impaired execretion of urinary pigments combined with anaemia

What are the types of signs in the nails that you can detect in patients with CRF?
 Hypoalbuminaemia
o Leukonychia
o Muehrcke’s nails (paired white transverse line near the distal end of nails)
 Renal failure
o Terry’s nails (distal brown arc 1mm or >)
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

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
o 3rd type of which loci is not fully known
 Presents clinically in the 3rd or 4th 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
Cranial Nerves

Conforming
 Superior Orbital syndrome (see VI nerve palsy)
 Cavernous sinus syndrome (see VI nerve palsy)
 Cerebellar Pontine Angle syndrome
o Involvement
 V1-3 (tinnitus and deafness earliest symptom then vertigo; loss of
corneal reflex is the earliest sign)
 VI
 VII
 VIII
 IX
 Cerebellar
o Causes
 Tumor
 Primary
o “Acoustic neuromas” – schwannomas of the vestibular
o Meningiomas, haemangioblastomsa, medulloblastomas
o Choleastoma
 Secondaries
o NPC ( loss of corneal reflex and V2 early)
o Lymphoma
 Aneurysm
 For bilateral lesions
 Bilateral “acoustic neuromas” in NF type 2
o Examination
 Examine CNs
 ULs for cerebellar signs
 Proceed to check neck for LNs
 Look for NF features (café au lait spots, neurofibroma, freckling and
Lisch nodules)
o Presentation
 Sir, this patient has righ/left CPA lesion as evidenced by
 There is no enlarged Cx LNs to suggests secondaries
 There is also no evidence of NF
 Possible etiologies includes
o Questions
 What is the CPA?
 Shallow trangular fossa lying between the cerebellum, lateral
pons and the petrous temporal bone
 Histology?
 Schawannoma
 Ix?
 Imaging – CT/MRI/Angio
 Audiography
  ENT to exclude NPC
 Mx
 Microsurgical resection
 Stereotaxic radiosurgery (Cx rate same as surgery)
 Lateral medullary syndrome
o 5 vessels involved (wedge shaped infarction of the lateral aspect of the
medulla and the inferior surface of the cerebellum)
 PICA
 Vertebral artery (most common artery that is involved)
 Lateral medullary artery (superior, middle, inferior)
o Areas affected
 Descending sympathetic fibres
 Ipsilateral Horner’s syndrome
 Ptosis, meiosis and anhidrosis
 Spinothalamic tract
 Contralateral hemi-sensory loss of pain and temperature
 Descending tract and nucleus of V
 Ipsilateral loss of pain and temperature of the face
 Nucleus ambiguus(X) and IX
 Hoarsenss of voice, dysphagia, hiccups
 Vestibular nuclei
 Nystagmus, vertigo, nausea
 Cerebellar (restiform body of the inferior cerebellar peduncle)
 Ipsilateral ataxia and gait ataxia
o Examination
 CN examination
 Go to ULs for loss of pain and temperature and cerebellar
 Check for AF and DM dermopathy
 Visual Fields for homonymous hemianopia (posterior circulation)
o Sir this patient has right/left LMS as evidenced by
 State the findings
 Mention NG
 Aetiology – infarction affecting the vertebral artery or the PICA, LMA
 Did not find any xanthelesma or DM dermopathy, or AF
 Request for BP and asking patient on symptoms of dysphagia
 Medial medullary syndrome
o Triad of XII, medial lemniscus and pyrimidal tract
o Ipsilateral wasted tongue, contralateral loss of vibration and propioception and
contralateral hemiparesis respectively
o Either vertebral artery or lower basilar
 Bulbar palsy
o Bilateral involvement of LMN IX, X, XI and XII
o Examination
 Proceed with CN
 Do Jaw jerk
 Requests to examine speech, and gag reflex
  Requests to examine ULs for fasciculations and dissociated sensory
loss
o Presentation
 Patient has bulbar palsy as evidenced by weakness of the soft palate,
wasted tongue with fasciculations a/w a nasal voice and a normal or
absent jaw jerk
o Causes (MGS, NNNP)
 MND
 GBS
 Syringomyelia
 Poliomyelitis, NPC, neurosyphilis and neurosarcoid
 Pseudobulbar palsy
o Bilateral UMN lesions of the IX, X and XII, V and VII (III/IV and VI are
spared)
o Examination
 Proceed with CN
 Do jaw jerk
 Request for speech, gag reflex and enquire emotional lability
 Request for AF, DM dermopathy and xanthelesma
 Requests for ULs to look for UMNs
o Presentation
 Patient has PBP as evidenced by presence of sluggish palatal
movement, small, stiff and spastic tongue a/w brisk jaw jerk with
“Donald duck” speech (slow, thick and indistinct)
 No AF, DM or xanthelasma
 No evidence of mix UMN and LMN signs to suggest MND
 No RAPD or INO to suggest multiple sclerosis
 Possible causes (BMM)
 Bilateral stroke
 MND
 Multiple sclerosis
 Syringobulbia
o See syringomyelia
o Extension of syrinx to involve the brainstem
o V(descending tract of V), VII, IX, X, XI, XII and Horner’s syndrome
o Usually unilateral
 Jugular foramen syndrome
o Involvement of the IX, X, XI (XII maybe affected due to proximity)
o Unilateral
o Examination
 CN exams
 Proceed to check for enlarged Cx LNs
 And request to assess speech for husky voice and bovine cough
o Presentation
 Sir, this patient has right/left JFS as evidenced by
 Notice that this patient is on NG
  No enlarged Cx LNs
 Possible etiologies includes
o Questions
 Causes
 Ca of the pharynx (commonest cause), tumor, neurofibroma
 Basal meningitis
 Paget’s disease, trauma
 Thrombosis of the jugular vein
 IX, X and XI leaves the skull via jugular foramen (between the lateral
part of occiput and the petrous part of the temporal bone)
 XII leaves via the anterior condylar foramen
 Isolated XI implies injury to XI in the neck eg stab wounds

Non-Conforming
 Myasthenia Gravis (see Myasthenia Gravis)
 Miller Fisher Syndrome
o Variant of Guillain Barre syndrome
o Characterise by triad of ophthalmoplegia, ataxia and areflexia
o Cs by anti G1Qb antibodies
o Rare
o Good prognosis with recovery beginning within 1 month of onset and
complete recovery within 6 months
o Some maybe left with residual weakness and 3% will have relapses
 Guillain-Barre syndrome
 Mononeuritis multiplex
 Migraine (paralytic)
 Paget’s
 Base of skull (trauma)
 Basal meningitis
 Brainstem strokes or multiple sclerosis
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)

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)

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)
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.

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
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. Bilateral deforming polyarthropathy, and joint deformities, tender (activity)
2. sausage shaped fingers, tenosynovitis
3. wasting dorsal guttering and wasting of the thenar and hypothenar eminence
4. nails – pitting, onycholysis, subungal hyperkeratosis, discoloration of the nails
(80% involvement with arthropathy)
5. Skin patches – well circumscribed plagues on the extensor surfaces of the elbows
and scalp, with salmon pink hue and silvery scales
6. 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 - <10, 10-50, >50 for mild, moderate and severe respectively

What are the types of joint involvement in psoriasis?

 OA
 RA
 AS
 Oligo/mono
 Arthritis mutilans

Radiological features of psoriatic arthritis?

 Periostitis – “fluffy”
 Destruction of small joints
 “Pencil in cup appearance”
 Non –marginal syndesmophytes in AS type

What are the unique characteristics of psoriatic lesions?

 Salmon pink hue with silvery scales
 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

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 post-
Trauma, 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.
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
Ulnar Nerve Palsy
Examination
 Rule out median, radial and brachial neuritis
 Inspecting
 Wasting of the muscles of the hands, hypothenar eminence and partial clawing
of the 4th and 5th 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)
 Test finger flexion of the 5th 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.
There is weakness of finger abduction and Froment’s sign is positive. There is
preservation of the flexion of the DIPJ of the 4th and 5th 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.

Questions
What is the anatomical course of the ulnar nerve?
 It provides motor to all muscles of the hands except the LOAF; flexor carpi
ulnaris and flexor digitorum profundus to the 4th and 5th 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?

It refers to the hyperextension of the 4th and 5th MCPJ associated with flexion
of the IPJs of the 4th and 5th fingers as a result of ulnar nerve palsy.
It is due to the unopposed long extensors of the 4th and 5th 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 digitorum profundus, resulting in less flexion of the IPJs of
the 4th and 5th 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
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
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

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
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)

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

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?

 The cauda equina refers to the nerve roots that are caudal to the termination of the
spinal cord; any lesion below the 10th 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 (<10 mononc cells and high prot)
 AntiGQ1B Ab in MFS and anti GM1 implies poorer Px
 NCT – demyelination
 FVC (15-20ml/kg < or NIF 25cmH2O<) = may require ventilation
 Mx
 Emergency
 ABCs, and pacing maybe required
 IVIG
 Plasma exchange
 Steroids
 PT/OT
 Prevention Cx – DVT prophylaxis
 Px
 Most 85% will have full recovery by 6-12 months
 Complications from respiratory failure and cardiac dysrythmias and labile BP
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

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
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
o Bilateral 3rd (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.
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, quasi-purposeful 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 not 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.
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
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)

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
 Onset in the 3rd or 4th 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
 Pacemaker for 3rd degree heart block or symptomatic such as syncope

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
Spastic Paraparesis
(Think: Cerebellar, sensory level, dorsal column, mixed, ULs and others)
Presentation
Sir, this patient has spastic paraparesis as evidenced by
 Increased tone and clonus
 Hyper- reflexia with upgoing-plantars
 Weakness of the lower limbs of power 4 with wasting
 Complications of
o DVT
o Pressure sores
o Urinary catheter, diapers
 Functionally
o Wheelchair by the bedside
o Walking aids, orthotic shoes
o Gait (Rhomberg’s sign positive with dorsal column loss, broad based gait)

This is associated with

1. Cerebellar signs
o Dyssynergia on heel-shin test
o Dysmetria and intention tremor on toe to finger test
o Dysdiadochokinesia on foot tapping test
o There is no sensory level and no dorsal column loss
o The possible differential diagnoses includes
 Spinocerebellar degeneration such as FA
 Young
 Pes cavus, loss of ankle reflexes, dorsal column loss
 Multiple sclerosis
 Craniospinal junction abnormalities
 Congenital - AC malformation
 Acquired - meningioma at the CS junction, syringomyelia
 Lewitic meningomyelitis
o Hence I would like to complete the examination by
 Features of MS – RAPD, INO and optic atrophy
 Features of CS junction – CNs, neck, dissociated sensory loss
 Argyll Robertson pupils for lewitic disease
2. Sensory level at T4
o Loss of sensation to pinprick up to the level of the nipples bilaterally
o There are no cerebellar sign and dorsal column sensory system is intact
o Hence the lesion is likely due to spinal cord lesion at T4 level and possible
etiologies are
 Cord compression
 Extramedullary (Root pains, LMN localised, spasticity early,
no sacral sparing, abnormal CSF)
o Vertebral – spondylosis, trauma, PID, tumor, infection
o Extradural – abscess, metastases, lymphoma
o Intradural – meningioma, NF
  Intramedullary (root pains rare, LMN signs extend over several
segments, late spasticity, may sacral spare, normal CSF)
o Syringomyelia
o Tumor – glioma, ependymoma
o Hematomyelia
 Cord infarction
 Anterior spinal artery thrombosis
 Vasculitis (PAN, syphilis)
 Thoracic/AAA and dissection
 Causes of cord compression
 Myelitis
 Infective
o Mumps, measles, EBV, HIV
o Mycoplasma, syphilis, TB
 Neoplastic - Carcinomatosis meningitis
 Nutritional – B12
 Demyelinating – MS
o I would like to complete the examination
 PR for saddle anaesthesia and a lax anal tone, although I did notice
that he is not on ant urinary catheter or diapers
 Back for any scars or bony tenderness
 ULs (if sensory level is at or above the ULs)
3. Dorsal column loss
o With loss of proprioception involving the first MTPJ and ankle joints
o As well as loss of vibration sense up to the level of the knees
o The sensation to pinprick is intact and there are/no cerebellar signs
o The possible etiologies include
 Spinocerebellar degeneration
 Multiple sclerosis
 Subacute combined degeneration of the cord
 Taboparesis
o Hence I would like to complete the examination by
 Features of MS
 Features of SACD – pallor, splenomegaly
 Argyll Robertson pupils
4. Upper limbs
o Intact cerebellar and sensation to pinprick, proprioception and vibration
(sensation may be lost)
o I would like to examine the upper limbs for
 LMN signs, wasted hands
 Syringomyelia, cervical myelopathy, MND
 Inverted supinator jerks
 C5-6 lesion
 UMN signs
 Bilateral strokes, high cervical myelopathy
5. Absent ankle jerks +/- knee jerks
o Fasciculations – MND
o Cerebellar – SCD (FA)
o Dorsal column loss – SACD, Taboparesis
o Conus medullaris lesion
o Combined pathologies
 Cord compression and pre-existing peripheral neuropathy
 DM and Cx myelopathy
 Alcohol and Cord compression
 Cx and lumbar myelopathies
6. Others – Cerebral palsy, parasagittal falx meningioma

Questions
What is spinocerebellar ataxia?
 A inherited disorders with multiple subtypes >20
 Cs by cerebellar and spinal degeneration, slowly progressive with atrophy of
cerebellum
 Ataxia
o Acquired (see cerebellar)
o Hereditary
 AD
 Some involve trinucleotide repeats with high penetrance and
anticipation
 AR (FA)
 X-linked

What is Friedreich Ataxia?

 Hereditary ataxia, autosomal recessive, Ch 9, trinucleotide repeat
 Cs by
o Symptomatic - during childhood and teenagers, inability to walk by 20s; onset
<25
o Physical
 pes cavus, distal wasting, spastic LL (pyramidal weakness), cerebellar
signs, dorsal column loss (marked loss of cells in the dorsal root
ganglion) and absent knee and ankle reflexes (degeneration of
peripheral nerves)
 Scoliosis
 Request for
o Spine - scoliosis
o CVS – HOCM
o Fundoscopy – optic atrophy
o Urinalysis for glycosuria
o IQ – intellectual deterioration
 Differential diagnosis for spasticity, cerebellar and dorsal column loss is Multiple
sclerosis; note that multiple sclerosis usually has increased reflexes
 Forme fruste of this condition is pes cavus or hammer toes without other signs
 Dx – Harding’s criteria
o Clinical as above
o Ix – small or absent sensory nerve action potentials, increased motor
conduction velocity
 Other well know conditions for spinocerebellar degeneration
o Refsum’s disease (elevated serum phytanic acid from defective lipid alpha
oxidase – optic atrophy, retinitis pigmentosa, cardiomyopathy, ichthyosis and
ataxia)
o Olivopontocerebellar degeneration
o Machado-Joseph disease (CAG repeats)

What is Multiple sclerosis?

 See History Taking Notes

What is subacute combined degeneration of the cord?

 Progressive disorder due to Vit B12 deficiency with degeneration of the corticospinal
tracts (pyramids/lateral columns) and dorsal column of the spinal cord
 It also affects
o Nervous system – CNs, peripheral neuropathy, transverse myelitis, dementia,
psychiatric
o Pernicious anaemia
 Typically patient feels paraesthesia
 B12 deficiency
o Low intake, Vegan
o Impaired absorption
 Stomach
 Gastrectomy
 Pernicious anemia
o Anti –parietal cell antibody
o Anti IF antibody
 Small intestines
 Ileal disease (Crohn’s disease), coeliac’s disease
 Bacterial overgrowth
 Fish tapeworm
 Colchicine
 Ix
o FBC – macrocytic anaemia
o B12 and folate
o Anti IF Ab and Anti Parietal cell Ab
o Schilling test
 IM B12 to saturate all B12 protein binding sites
 PO Co-B12
 If >10% excretion, normal
 If <10%, abnormal
 Repeat with oral IF
o If normal, means IF deficiency
 o If abnormal, Rx with antibiotics
 If normal = bacterial overgrowth
 If abnormal = terminal ileal disease
o Screen with OGD if pernicious anemia, with higher risk of Gastric Ca
o MRI of spinal cord – degeneration of the lateral and dorsal columns
 Rx with parenteral B12 or PO B12 high doses
 Px – may recover if treated early; otherwise damage is usually permanent

What is taboparesis?
 Cs
o Lightning pains – electric shocks in the limbs, throat, stomach or rectum
o Physical
 Spasticity with dorsal column loss (high stoppage gait), absent ankle
jerks
 Charcot’s joints, trophic ulcers
 LL before ULs, rarely ULs involved first (= cervical tabes)
 Incontinence and constipation
 Argyll-Robertson pupils
 Due to lewitic disease, neurosyphilis of which:
o Acute syphilitic meningitis
o Acute transverse myelitis
o Meningovascular disease (stroke in young patient, CN abnormalities)
o Tabes dorsalis
 3 stages
 Pre-ataxia
 Ataxia
 Paresis (= taboparesis)
o Taboparesis
o Generalised paralysis of the insane (GPI)/Dementia paralytica
 Chronic progressive frontoparietal meningoencephalitis with atrophy
 Dementia which classically progresses to grandeur and delusions
 Trombone tremor (hands, lips and tongue)
o Gummata in the CNS
 Caused by spirochetal infection, Treponema pallidum
 Stages
o Primary – painless chancre
o Secondary – maculopapular rash, acute syphilitic meningitis
o Tertiary
 Neurosyphilis – obliterative small vessel endarteritis, affecting the
vasa vasorum
 Cardio syphilis
 Gummatous syphilis
o Quaternary
 Fulminant anergic necrotising encephalitis in HIV patients
 Ix with VDRL/RPR, TPHA/FTA
o VDRL
 
Non-specific

False positive (EBV, malaria, SLE, RA, pregnancy, non syphilitic
treponemal infection)
 Titre use to monitor treatment and reinfection
o TPHA/FTA
 Specific
 Once positive, will remain positive even after treatment
 Rx
o Symptomatic treatment
 Lightning pains – analgesia, TCAs, carbamazepine
 Ataxia – PT/OT
 Bladder – avoid anticholinergics, self catheterisation
o Penicillin
 Beware the Jarisch Herxheimer reaction
 From toxins released from killed spirochaetes
 Starts 3-4 hrs and peaks at 6-8 hrs
 Fever, HR, RR, myalgia, lethargy
 Rx with steroids 1 day before and with salicylates

What is motor neuron disease?

 Cs
o Onset >40 years old usually, progressive
o Cs by presence of UMN and LMN of a single spinal segment, with motor
dysfn involving at least 2 limbs or 1 limb and bulbar
o No sensory deficit, no cerebellar, no extrapyramidal, no ocular involvement
 Types
o Bulbar/pseudobulbar palsy (25%)
o Amyotrophic lateral sclerosis (50%)
 UMNs and LMNs
 UMN from degeneration of the lateral corticospinal tracts and Betz
cells
 LMNs from degeneration of CN nuclei or anterior horn cell
o Progressive muscular atrophy (25%)
 Severe muscular dystrophy with distal wasting
 Preserved deep tendon reflexes
 Due to lesions in the anterior horn cells
o Primary lateral sclerosis (rare)
 UMN progressing to LMN
 Dy/Dx
o Cervical cord compression
o Syphilitic amyotrophy
o Anterior horn cell disease
 Polio
 Spinal muscular atrophy
 No definitive Ix test
 Mx
 o Counselling and support
o Symptomatic
 Dysphagia – NG, PEG
 PT, OT
 Antidepressants
o Riluzole – glutamate antagonist
o Rx complications
 Pneumonia, UTI
 Pressure sores
 DVT
 Poor Px – progressive with median survival of 3-5 years

What are the clinical features of cervical myelopathy?

 Symptoms exceeds signs and spasticity exceeds weakness
 Cs
 Motor
 look for wasting and weakness of C5 and C6 level as this is commonest area
for spondylosis involvement
 passive abduction of the little finger (myelopathy hand sign)
 spasticity of LL
 Inverted supinator jerk
 Sensory – often no sensory loss but may have pseudoathetosis with loss of
proprioception and vibration

What causes fasciculation?

 Sign of LMN disease with denervation
 Spontaneous firing of large motor units formed by branching fibres of surviving
axons striving to innervate the muscles that have lost their nerve supply

What is Lhermitte’s phenomenon?

 Tingling or electric sensation that passes down the spine with flexion of the neck
 Causes includes
 Multiple sclerosis
 Cervical myelopathy (spondylosis and tumor) – also has similar sensation on
extension of the neck i.e. reversed Lhermitte’s sign
 SACD

What are the various manoeuvres to elicit Babinski’s sign?

 Chaddock’s manoeuvre (dorsolateral aspect of the sole of feet)
 Oppenheim’s sign (pressure applied on the inner border of the tibia)
 Gordon’s reflex (pinching the Achilles’ tendon)
Counseling – Other Topics

Smoking
 Smoking history
o how long, how many packets, type and brand
o Increasing/decreasing
o Pleasure, after work, when stress
o Tried quitting, what happened then
o Withdrawal symptoms
o Illness – cough, dyspnea, CVS
o FHx of smoking and illness
 Social Hx
o Married, children
o Who he stays with and lives with
o What are their opinion
 Benefits of quitting
o CVS, resp
o Breathe easier, taste sharper
o Financial
o Good for children and loved ones
o Many have been successful
 Fears and offer solution
o Withdrawal (restless, irritable and lack of sleep)
 nicotine replacement (gum, patches, inhalers) and bupropion
 These double the chance of successfully quitting
 NRT start on quit date (2 weeks supply initially); have locaolised
reation and may have mild sleep disturbance
 Bupropion start 1 week before quit date (3 weeks supply initially);
0.1% of seizures and 0.1% of severe hypersensitivity reaction; 3%
has rash/urticaria/pruritus and c/o dry mouth and insomnia
 Not for <18, breastfeeding or pregnant
o Weight gain – up to 5 to 10 pounds in the first few months is expected but
can exercise and have healthy snacks
 Any intention to quit, will to quit
o No – can meet up again; phone no, leaflets
o If yes, can refer to a NHS Stop Smoking Service
 If not keen, then offer advice on quit date and nicotine
replacemen/bupropion; anticipate likely failure triggers
 If keen, then make the referral!

Organ Transplant
 The new Human Tissue Act in UK comes into effect on 1/9/06
o If someone who wants to donate, ie on the NHS Donor register or Donor
Card carrier or expresses wishes to donate organs upon death, relatives
cannot object
o Unrelated Live Organ Donation
  Allowed from the 1/9/06
 “paired” or “pooled” or “altruistic”
 Paired = 2 couples in which they are not compatible within
but compatible with the other couple
 Pooled = >2 couples
 Alder Hey Scandal whereby organs of the dead were taken and stored without
consent of the deceased or relatives
 In UK, it is an “Opt In” system

Hormone Replacement Therapy

 Informed decision
 Types
o Creams and gels (estrogen) which should not be used >3-6 months
because systemic absorption of estrogen
o Tablets, patches, implants, nasal spray (estrogen), Mirena(IUD with
progesterone), vaginal ring with estrogen only and for hysterectomised
patients and “bleed-free HRT”
o All women with uterus must have progesterone
 Uses
o For menopausal symptoms which normally lasts for 6 months to 2 years
which includes hot flushes, vaginal atrophy, frequency, urgency and
dyspareuina, night sweats and irritability
o For premature menopause up to age 50
o Osteoporosis
o Reduce risk of colorectal cancer
 Risk of
o CHD
o CVA
o PE/VTE
o Breast Cancer, ovarian cancer, uterine cancer
o Dementia
 Side effects
o Breast tender
o Vaginal discharge
o Nausea, weight gain, irregular bleeding, headaches
o Progesterone can cause premenstraul tension, depression, ankle swelling
and jaundice
o Increase size of gallstones
 Alternatives
o Homeopathic alternatives and use of phyto-estrogens

Compensation
 For asbestosis, silicosis, coal worker’s pneumoconiosis, byssinosis and
mesothelioma
 Get form B1; MO from Social Security visit; compensation backdated 3 months
except for mesothelioma; have up to 1 month to dispute degree of disability
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
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 X-ray)
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)
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.
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
Drugs
Chronic ethanol ingestion
Chronic renal failure
Polycythaemia, lymphoproliferative, myeloproliferative
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

How would you treat an acute attack?

NSAIDS – Indomethacin (50mg tds)
Colchicine 2 ways:
0.5mg hrly till GI side effects or max of 5 mg, or
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
Allopurinol
New agents – Uricase, febuxostat
Uricosuric acid agents
probenecid or sulfinpyrazone
losartan
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
Erythematous rash, fever, hepatitis, hypereosinophilia and renal
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
VSD
(Clue: Young patient; look for associated conditions of Down and Fallot’s Tetrology)

Presentation
Sir, this patient has got a Ventricular Septal Defect that is hemodynamically
significant as evidenced by:

Presence of a pan-systolic murmur heard best at the left lower sternal edge with
radiation towards the right side of the sternum. This murmur can be heard at the apex
but there is no radiation to the axilla. It is louder on expiration. It is a grade of 5/6
murmur and is associated with a systolic thrill. The first heart sound is not soft. I did
not detect any third heart sound.

I did not detect any early diastolic murmur at the left lower sternal edge to suggest an
associated AR. This is also no associated mid-diastolic apical rumble at the apex to
suggest a flow murmur at mitral valve which can be a/w VSD.

Apex beat is displaced and is located at the anterior axillary line at the 6th IC. It is
thrusting in nature.

No evidence of Eisenmenger’s syndrome such as central cyanosis, clubbing. There is

evidence of pulmonary hypertension such as palpable or loud P2, no parasternal
heave.

There are no signs of CCF such as bilateral pedal edema, no basal crepitations or
raised JVP; she is comfortable at rest with a RR of 14 bpm and does not require any
supplemental oxygen.

There is no peripheral stigmata of IE. The pulse is regular at 70 bpm and character of
the pulse is normal. There are no features to suggest Down syndrome or (Turner
syndrome - if female).

I would like to complete my examination by looking at the patient’s temperature chart

and taking his blood pressure.

In summary, this young man has got a VSD that is severe with a displaced apex beat
and is complicated by pulmonary hypertension. Clinically, there is no heart failure or
Eisenmenger’s syndrome or IE. The most likely cause is congenital VSD.

Dy/Dx – MR, TR, VSD – For VSD, murmur radiates to the right of the sternum,
young patient and a palpable thrill

Questions
What are your differential diagnoses for a PSM?
o MR – PSM at apex radiates towards the axilla, soft S1
o TR – PSM heard at the triscupid area, louder on inspiration; usually secondary
to pulmonary hypertension or seen in IVDAs; Giant V wave, pulsatile liver
o VSD – PSM heard at the LLSE which is louder on expiration

What are the causes of a VSD?

 o Congenital
o Acquired
o MI

How common is VSD?

o The most common congenital heart condition
o 2 per 1000
o Usually in the membranous portion (can also be found in the muscular)
o Small defects close spontaneously in early childhood in about 50%

What are the types of VSD?

o Supracristal (above the crista supraventricularis)
o Infracristal
o Upper membranous
o Lower muscular (<5%)
o Different morphology
o Maladie de Roger
o Swiss cheese
o Large
o Gerbode defects (opens into the RA)

What are the conditions in which VSD is part of?

o Fallot’s tetralogy
o Truncus arteriosus
o AV canal defects
o DORV (double outlet RV)

What are the complications of VSD?

o AR
o Pulmonary Hypt
o Eisenmenger’s complex
o CCF
o IE

Does the loudness of the murmur correlate with severity?

o No; in fact, a small VSD results in a louud murmur and the converse is true.

What is Maladie de Roger?

o A term used to describe a small VSD that is hemodynamically insignificant
with normal heart size, ECG and CXR; it is a loud murmur on ausculatation

How do you differentiate an isolated VSD with one that is associated with Fallot’s
tetralogy?
o Pulmonary thrill, PS murmur
o Clubbed and central cyanosis (but could be VSD with Eisenmenger’s)

How do you differentiate VSD from HOCM?

o ESM rather than PSM
o Apex is not displaced, double apical impulse
o Jerky pulse
How would you Ix?
o ECG
o Normal in small defects
o LVH, RVH, p mitrale
o Pulmonary hypertension – P pulmonale, RAD
o CXR
o Normal in small defects
o Cardiomegaly, LA and LVH
o Pulmonary plethora initially
o Pulmonary hypertension later with prominent pulmonary trunks, rapid
tapering of the peripheral pulmonary arteries and oligaemic lung fields
o CCF
o Echocardiogram
o Diagnostic
o Determine severity and direction of shunt via color doppler

How would you manage?

o Counsel
o Medical
o Antibiotic prophylaxis
o Rx complications of CCF
o Surgical
o Small, asymptomatic and normal pulmonary pressure do not need
surgery
o Indications
 Evidence of pulmonary hypertension or CCF
 Right ventricular pressure >50 mmHg
 Right to left flow ratio or pulmonary to systemic resistance
ratio >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
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

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)

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.
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.

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.
Marfan’s Syndrome
Examination (seated)
 Overall
 Tall, disproportionately long limbs compared to trunk
 Upper Limbs
 Arachnodactyly, thumb sign, wrist sign(overlap > 1cm)
 collapsing pulse
 reduced extension of elbows
 Face
 Dolichocephalic(long-headed)
 Blue sclera, iridodonesis, myopia, ectopia lentis (superolateral)
 High arched palate
 Meisher’s elastoma
 No thyroidectomy scar
 Chest
 Pectus excavatum or carinatum
 Thoractomy scar (Hx of repair of aortic aneurysm)
 No gynaecomastia
 LL
 Arachnodactyly
 Stand up
 Kyphoscoliosis
 Abdomen: inguinal or femoral herniae, hernia scars, striae atrophicae
 Genu recurvatum
 Pes planus
 Request
 Cardiovascular examination: MVP, AR
 Respiratory: scar suggestive of chest tube for pneumothorax, pleurodesis
 Lower limbs for weakness and numbness (complications of dural ectasia)
 Measure his arm span to height ratio (>1)
 Measure pubis-sole to pubis-vertex ratio (>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.

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 <40mm, composite graft required if >50mm)
 MV function
 Ophthalmic examination

How would you manage?

 Education and psychological counselling
 Annual cardio review
 Beta-blockade (retards rate of aortic root dilatation)
 Aortic root graft >50mm
 IE prophylaxis
 Eye review

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<40mm)

How would you counsel patient?

 Affected individuals can transmit the condition to 50% of their offspring.
 The recurrence risk is 50% if 1 parent is affected. The recurrence risk is small if
neither parent is affected.
 During counseling, the variability of the disease should be emphasized, as an
affected child may be more or less affected than the parent.

How do you assess hypermobility?

 Beighton’s 9 point scale
 passive dorsiflexion of the little finger beyond 90°
 passive apposition of the thumb to the flexor aspects of the forearm
 hyperextension of the elbow beyond 10°
 hyperextension of the knee beyond 10°
 forward flexion of the trunk, with the knees straight, so the palms of the hands
rested easily on the floor
 If 4 or more => 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
Approach to Lateral Thoracotomy Scar
 Lateral thoracotomy scar
o Asymmetrical chest wall with absent ribs
 Thoracoplasty for TB treatment in the past (can get respiratory failure and
BiPAP useful)
o Symmetrical or no chest wall deformity
 Normal underlying lung on examination
 Lung transplant
 Pleurectomy (eg for recurrent pntx in Ehlers Danlos)
 Bullectomy
 Abnormal underlying lung
 Reduced breath sounds
o Lobectomy (still as breath sounds in the axilla)
o Pneumonectomy (no breath sounds)
 COPD with lung volume reduction surgery
 Lung transplant with complications
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
 Suparsellar 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
o Temporal lobe
 Lower quandrantonopia
o Parietal lobe
 Macula sparing (test with a red hat pin)
o Occipital cortex
 No macula sparing
o Optic radiation
 Note any DM dermopathy, xanthelasma and AF, hemiparesis

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
Diabetic Retinopathy

Presentations (Can still use the older classification)

Sir, this patient has:

(a)Type and location

1. 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
2. Preproliferative diabetic retinopathy affecting the inferior/superior temporal/nasal
quadrants of the retina
a. Cotton-wool spots
b. Venous dilatations, beading, looping or segmentation
3. Proliferative retinopathy diabetic retinopathy
a. Neovascularisation
i. At the disc
ii. Affecting the inferior/superior nasal/temporal quadrants of the
retina
4. 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. Focal photocoagulation scars

2. Panretinal or scatter photocoagulation scars
3. Macular photocoagulation scars

(c)Complications (for proliferative)

1. Vitreous haemorrhages
2. Fibrosis with traction retinal detachment
3. Optic atrophy (for all)

(d)Associations (mention if present)

1. Xanthelesma
2. Cataracts
3. Hypertensive changes
4. Robeosis irdis
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

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)

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
To Ventilate or Not
Opening
(Introduce/clarify/comfortable/purpose/what he understands)

Issues
 Task – Informing how ill father is, premorbid and ventilation
 (medical/legal/ethical, listen/summarise/advise, social, ICE and 9 issues)
 Task 1 – Informing how ill father is
o Update on latest findings at the A&E eg pneumonia, clinical state and blood
test and CXR results
o Coupled with his underlying condition
o Currently, how doctors are managing him
o Patient is ill such that he will pass away soon unless he is artificially
supported by a machine to breathe
o “In order to advice you on the options, I need to discuss with you about his
condition”
 Task 2 – premorbid
o Normal state, ADLs
o Ex tolerance
o Depressed?
o Condition eg COPD
 Severity, LTOT, Neb, requirement on LTOT or prn
 Admission, ICU, intubation, cx, difficulty weaning off
o Other condition
 Task 3 – ventilation
o Options – Place him on a face mask vs NIPPV vs ventilation
o The first 2 are likely to fail and his risk of death is high
o Ventilation
 Aim and benefits – remedial reason, first episode, acceptable quality of
life
 Discouraging factors – advance COPD with poor quality of life
 Procedure – “a plastic tube passed into windpipe and connected to a
machine” and “tubes in the arms and neck for fluids and antibiotics”
 Risk – infection, pneumothorax “lung bursting”, difficulty weaning off,
psychosis and death
o Check if patient has stated any views, living will
o Check family and relatives’ view

Closing
(Summarise/support/plan/next appointment/pager no)
Rheumatoid Arthritis

Presentation
Sir, this patient has Rheumatoid arthritis affecting the hands as evidenced by

Presence of symmetrical deforming polyarthropathy

PIPJ/MCPJ
Swan neck, Boutonniere’s, Z-thumb, ulna deviation
Subluxation (MCPJ, dorsal subluxation of the ulna at the carpal joint)
Active arthritis/quiescent

Intrinsic muscle wasting

CTS
Dropped fingers from tendon rupture
Synovial thickening

Vasculitic lesions, nail-fold infarcts

Palmar erythema
No nail changes and skin lesions of Psoriasis
SLE skin changes

Elbows for Rh nodules

Function
Preserved vs impaired
Coarse and fine functions

Treatment
Steroid – atrophied skin, bruisability
Surgical intervention – CTS decompression, tendon release

Requests
Other joint involvement (MTPJ, knees)
Extra articular features of RA

Questions
What are the extra-articular features of RA?
 Eye
o Conjunctiva – Keratoconjunctivitis sicca, pallor
o Sclera – episcleritis, scleritis, scleromalacia perforans
o Lens – Cataracts from chronic steroid usage
o Retina – vasculitis, drug induced (Gold, Hydroxychloroquine)
o Extra-ocular muscles – mononeuritis multiplex, myasthenia sec to
penicillamine
  Respiratory
o Upper airways – Cricoarytenoid
o Pleura – pleurisy, effusions
o Airway – BOOP
o Parenchyma – Pulmonary fibrosis, pneumonitis, PHT ( RA or MTX)
o Caplan’s, Nodules
 Neurological
o Peripheral neuropathy
o Mononeuritis multiplex
o Nerve entrapment
o Cx atlanto-axial subluxation +/- Cx myelopathy
o Muscle atrophy, proximal myopathy sec to steroids, penicillamine induced
myasthenia
 Abdomen
o Splenomegaly in Felty’s syndrome

What are the causes of anaemia in RA?

 Fe deficiency – GI bleed from NSAIDS
 Megaloblastic anaemia – Pernicious anaemia
 Anaemia of Chronic disease
 Hypersplenism from Felty’s Syndrome
 Aplasia – Gold, Penicillamine

What are the poor prognostic indicators?

 Insidious onset and high activity at onset
 Rh nodules or early erosions within 1 year
 Extra-articular features
 Persistent activity after 1 year – Active arthritis, ESR
 High levels of Rh factor and Anti CCP Ab (anti cyclic citrullinated peptide Ab)

What are the criteria for Dx RA (American college of Rheumatology)?

Any 4 of the following:
 Morning Stiffness for >1 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
 Jaccoud’s arthropathy which is ulna deviation with subluxation of the 2nd to 5th
fingers at the MCPJ which is voluntarily correctable; initially described in
patient’s with Rh fever but now used synonymously with SLE deforming
arthropathy
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.

Questions
What is Parkinson’s disease?
It is a progressive neurodegenerative disorder associated with degeneration of the
dopaminergic nigrostriatal neurons.
Dx clinically with 2 out of 3 signs comprising of resting tremors (3-5Hz),
bradykinesia and rigidity. The 4th 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

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, ie<50, rule Wilson’s disease
 Slit-lamp examination
 Serum ceruloplasmin and 24Hr Urinary Copper
How would you manage?
 Multidisciplinary approach
 Education and counselling, PT/OT/ST
 Medications
 Dopamine agonist, eg pramipexole or ropinirole
 Early in the course of the disease or younger patients
 Delay onset of motor fluctuations and dyskinesias
 Nausea, orthostatic hypotension, hallucinations or somnolence, edema
 L-dopa therapy (usually combined with a peripheral decarboxylase inhibitor)
 Should be used if there is disability
 Never used in patients with melanoma
 Peak dose dyskinesia and end of dose rigidity
 Nausea, orthostatic hypotension, hallucinations
 Tremors – anticholinergic (dry eyes and mouth, urinary retention, arrhythmia), e.g.
arcane or benztropine.
 Rigidity – beside Dopa and D agonist, can use MAO-B inhibitors or amantadine
(cognitive side effects)
 COMT inhibitors (diarrhea and hepatotoxicity)
 Surgical
 Lesion surgery – thalomotomy (tremors) and pallidotomy (for all features)
 Deep brain stimulation (for all features especially tremors)

How would you manage dyskinesia?

 Peak dose dyskinesia
 Reduce the dose and increased frequency
 Add on COMT inhibitors i.e. entacapone which increases half life of L-dopa
therapy
 Initiating with dopamine agonist and adding on L-dopa therapy resulted in less
motor fluctuations
 End of dose
 Increase dose, frequency
 Switch to CR formulations
 Add DA, MAO-B inhibitors, COMT inhibitors

What is the prognosis?

 Chronic
 Progressive
 Some will have mild while other will have severe symptoms
 Some will be troubled mainly with tremors, other by rigidity and bradykinesia

What is the abbreviated mental test?

 Use as a screening for possible dementia in the elderly
 A score of less than 6 warrants further assessment
 Includes
 Age
 DOB
 Remember this address – 42 West Street
 Time (nearest hour)
 Year
 Recognition of 2 persons
 Place
 Prime Minister of UK
 First Year of WW1 (1914-1918)
 Count backwards 20 to 1
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
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 <50
 Requiring >2 antihypertensive
 Sudden deterioration in control of BP
 Features suggestive of secondary causes on clinical examination

How would you manage?

 Lifestyle- Exercise, eat healthily, stop smoking
 Pharmocotherapy
Charcot’s Joint
Examination
 Inspection
 Skin
 DM dermopathy, callus, ulcer, amputations, loss of concavity of the foot
arch, loss of leg hair, shiny skin;
 Leprosy skin changes, i.e. hypopigmented macules
 Muscle - wasting
 Bone - Joint involvement and stage of Charcot’s
 Notice any nearby foot orthoses
 Palpate
 Joint for tenderness, osteophytes and crepitations, passive ROM for
hypermobility
 Feel for thickened nerves
 Feel pulses
 Sensory testing – pinprick, temperature; vibration and proprioception
 Motor testing

Presentation
Sir, this patient has a right ankle Charcot’s joint. The right ankle is enlarged
and deformed with crepitus and hypermobility of the joint. It is not warm or tender.
There is loss of sensation to pinprick in a stocking distribution and there is also loss of
vibration and proprioception up to the ankles.
In terms of function, I noticed the presence of an ankle-foot orthoses by the
patient’s side. There is no muscle wasting to suggest disuse atrophy.
The most likely aetiology is diabetes mellitus as evidenced by presence of DM
dermopathy, with callus formation over the pressure points of the feet and loss of
concavity of the foot arch. There is also loss of skin hair on the lower limbs and the
skin has a shiny appearance. There is no hypoaesthetic, hypopigmented macules or
palpable thickened nerves to suggest leprosy.
To complete the examination
 Stand the patient for Rhomberg’s sign, walk for functional assessment
 Check the back for meningocele
 Check the upper limbs for dissociated sensory loss
 Examine the eyes for Argyll-Robertson pupils
 Urine dipstick for glycosuria
 Check for signs for chronic ethanol ingestion
In summary, this patient has a right ankle Charcot’s joint secondary to diabetes
mellitus and able to ambulate with an ankle foot orthosis.

Questions
What is Charcot’s foot?
It is a chronic, progressive, degenerative, neuropathic arthropathy resulting
from a disturbance from the sensory innervation of the affected joint.

What are the causes of a Charcot’s foot?

 Diabetes mellitus (toes and ankles)
 Leprosy
 Alcoholic neuropathy
 Tabes dorsalis (hips and knees)
 Myelomeningocele
 Syringomyelia (upper limbs eg shoulder)
 Others – HSMN, congenital insensitivity to pain

What are the stages of Charcot’s foot?

 Atrophic form – usually forefoot with osteolysis of the distal metatarsal; X-ray
shows MT resembling a pencil point
 Hypertrophic form (mid or rear foot and ankle); Eichenholtz classification system:
 Stage 0 – Clinical stage with signs and symptoms but no joint deformity yet
 Stage 1 – Acute (Developmental or fragmentation stage)
 Periarticular fracture with joint dislocation with unstable deformed foot
 Tender, red and swollen, mimicking infection (but afebrile, normal TW
and good DM control and no break in skin) or gout
 Stage 2 – Subacute (Coalescence stage)
 Resorption of bone debris
 Stage 3 – Chronic (Reparative stage)
 Restabilization with fusion of the involved fragments
 Enlarged and deformed, non tender

What is the pathogenesis of Charcot’s foot?

2 theories:
 Neurotraumatic – loss of pain sensation and proprioception combined with
repetitive and mechanical trauma to the foot
 Neurovascular – Autonomically stimulated vascular reflex that causes hyperemia
and periarticular osteopenia with contributory trauma

How would you investigate?

 Establish the diagnosis
 In acute stage
 X-ray – to rule out OM; MRI or Indium scanning for infection
 FBC for a normal TW; ESR or CRP normal in Charcot’s joint
 Stage the Charcot’s joint from radiographs
 Demonstrate loss of protective sensation of the foot
 Semmes-Weinsten (10-g or 5.07 gauge) monofilament
 Applied with just enough pressure to bend the monofilament
 Positive if 4 out of 10 sites affected
 Establish the cause
 FPG for DM, VDRL

How would you manage?

 Education and counselling
 Early Dx to prevent deformity
 PT/OT – immobilization with total contact cast initially, paying particular
attention to proper foot care and footwear; with ankle foot orthoses and custom
made footwear
 Medications
 Symptomatic in the acute stages, bisphosphonates
 Surgical – in chronic stage eg foot stabilisation procedures, exostosectomy
Peripheral Neuropathy
(Think: Sensory, motor, or mixed. Are nerves palpable nerves?)
Presentation 1
 Sir, this patient has predominantly sensory peripheral neuropathy as evidenced by
o Loss of sensation to pinprick and light touch and
o Impairment of vibration and joint position sense
o In a stocking distribution
 The motor system is intact; I did not notice any
o Wasting or fasciculations of the lower limb muscles
o Tone and reflexes are normal with downgoing plantars
o Power is normal
OR
 Sir, this patient has mixed motor and sensory peripheral neuropathy as evidenced by
o Loss of sensation to pinprick and light touch and
o Impairment of vibration and joint position sense
o In a stocking distribution
 Associated with
o Wasting and fasciculations of the lower limb muscles
o Reduced tone and reflexes with downgoing plantars
o Diminished power of 4 in the lower limb muscles especially affecting
plantarflexion, dorsiflexion and flexion and extension of the knees bilaterally
AND
 There is presence of
o Loss of hair on the lower half of the legs bilaterally
o No charcot joints
 The most likely underlying aetiology is diabetes mellitus as I noticed
o Presence of diabetic dermopathy
o I screened for other possible causes:
 No thickened nerves or hypopigmentation patch (leprosy)
 Parotidomegaly, dupytren (chronic ethanol ingestion)
 Not sallow (uremia)
 Not pale (B12 deficiency)
 Not cachexic and no clubbing of toes (paraneoplastic)
 No symmetrical deforming polyarthropathy (RA)
 No clinical features of acromegaly, hypothyroidism
 I would like to complete the examination
o Gait (if not done) to look for high steppage gait (sensory ataxia)
o Upper limbs for distal sensory impairment although I noticed that there is no
obvious wasting of the hands
o Urine dipstick for glycosuria (DM)
o Ask history
 Drug history – INH, nitrofurantoin, phenytoin, chloroquine,
penicillamine, vincristine, cyclosporine A
 Chronic ethanol ingestion
Presentation 2
 Sir this patient has predominantly motor neuropathy as evidenced by
o Wasting and fasciculations of the lower limb muscles
o Reduced tone and reflexes
o With diminished power of 4 affecting knee flexion and extension as well as
plantar and dorsiflexion
 Sensation is intact with normal pinprick sensation, vibration sense and propioception.
 The most likely aetiology in this patient is
o diabetes mellitus as I noticed presence of diabetic dermopathy in the lower
limbs
o Other possible aetiologies for a predominantly motor peripheral neuropathy
 Drugs – cyclosporine A, Gold, penicillamine
 Pb, Hg
 Metabolic – DM and AIP
 Infectious/Inflammatory – HIV, GBS, Amyloid, sarcoid
 PAN
 HSMN type 1

Questions
What are the causes of peripheral neuropathy (mixed, sensory and motor)?
 DAMIT BICH
o Drugs
 INH, nitrofurantoin, chloroquine
 Penicillamine, gold, cyclosporin A, phenytoin
 vincristine, cisplatinum
o Alcohol, Arsenic(Mees, raindrop pigmentation), Pb(wrists and Pb lines in
gums), Hg
o Metabolic – DM, Uremia, AIP
o Infectious - Leprosy, HIV, botulism, diphtheria
o Inflammatory – GBS (look for facial diplegia), CIDP
o Tumor – paraproteinemia, paraneoplastic (Ca Lung), Hodgkin’s
o B12, B6 and B1
o Infiltrative – Amyloid (look for thickened nerves and autonomic), sarcoid
o Immunological – PAN, SLE, RA
o Congenital – HMSN, Refsum’s disease, porphyria
o Cryptogenic
o Hormonal – Acromegaly, hypothyroidism, hyperthyroidism
o POEMS (Polyneuropathy, Organomegaly, Endocrinoapthy, Monoclonal
gammopathy, Skin changes – a/w osteosclerotic myeloma)
(NB: DM can be sensory, motor or mixed)

What are the causes of a painful peripheral neuropathy? (DAB, CAP)

 DM, Alcohol, B12 deficiency
 Carcinoma, porphyria, Arsenic
What are the causes of thickened peripheral nerves?
 Median nerve (wrist), ulna nerve (elbow), common peroneal nerve (head of fibula),
Greater auricular nerve (neck)
 CHAOS
o CIDP
o HMSN
o Acromegaly, Amyloid
o Others
 LS DNR – Leprosy, sarcoid, DM, Dejerine Sotta disease (hypertrophic
peripheral neuropathy), NF, Refsum’s disease (retinitis pigmentosa,
optic atrophy, cerebellar and deafness, cardiomyopathy ad ichthyosis)

What are the causes of mononeuritis multiplex (separate involvement of more than one
peripheral or cranial nerve by the same disease)?
 Endocrine
o DM, Hypertension, Acromegaly
 AI
o RA, SLE, PAN, Sjogren, Churg-Strauss, Wegener’s
 Infection
o Leprosy, Lyme, HIV
 Infiltrative
o Amyloid, sarcoid
 Carcinomatosis

What are the types of neuropathy in DM?

 Symmetrical sensory neuropathy (glove and stocking)
 Predominantly motor, asymmetrical (diabetic amyotrophy)
 Mixed motor and sensory peripheral neuropathy
 Mononeuropathy
 Mononeuritis multiplex
 Autonomic neuropathy

What are the neurological complications of alcohol?

 Wernicke’s (confusion, ophthalmoplegia, cerebellar, neuropathy)
 Korsakoff’s psychosis (recent memory loss and confabulation)
 Cerebellar degeneration
 Central pontine myelinosis
 Epilepsy
 Myopathy and rhabdomyolysis
 Peripheral neuropathy
Proximal Myopathy
Examination
 On detecting proximal weakness, proceed to test sensation to rule out neuropathic
weakness; skip the cerebellar; waddling gait
 If unilateral proximal weakness, think of diabetic amyotrophy (a/w pain and
sensory impairment)
 Check the ULs
 Acromegaly, Cushing’s
 Dupuytren contracture
 Dermatomyositis/Polymyositis
 Proximal weakness
 Check the Face
 Eyes for MG
 Cushing’s, Acromegaly, Thyroid
 Parotids

Presentation
Sir this patient has proximal weakness of the upper and lower limbs that is due to
proximal myopathy.

There is presence of weakness with a power of 4 on the upper and lower limb girdle
muscles. I was able to overcome his abduction of the arms and he has difficulty
standing from a sitting/squatting position. There is presence of a waddling gait.

There is no evidence of any sensory involvement. There is also no fatigability.

There were no features of

 Dermatomyositis/polymyositis
 Acromegaly/Cushing’s/Thyroid
 Chronic ethanol ingestion – Dupuytren and parotidomegaly
 Sarcoid – lupus pernio
 Cancer – cachexia, clubbed

I would like to take a drug history

 Cholesterol lowering drugs
 Corticosteroids
 Cyclosporine A
 Chloroquine

The possible etiologies include:

 Congenital
 Duchenne’s
 Sex linked, young male child, onset 3-4yrs
 Pseudohypertrophy of the calves
 Proximal weakness – Gower’s sign, usually cannot ambulate by 15yrs
 No facial involvement
 Low IQ
 Dilated cardiomyopathy
  Becker’s
 Similar but less severe to Duchenne
 Can ambulate beyond 15 years
 Usually onset 5-15 but maybe 3rd/4th decades
 Majority survive to 4th/5th decades
 Dx – Western blot of muscle biopsy – abnormal/reduced dystrophin
 Limb Girdle
 AR, 10-30 yrs old, progressive with severe disability in 20yrs
 Shoulder and pelvic girdle affected
 Deltoids are spared initially – pseudohypertrophy
 Biceps and brachioradialis are involved late
 Hip flexors and glutei are weak
 Early wasting of medial quads and tibialis anterior with lateral quads
and calves being pseudo hypertrophied
 Face is never involved and normal IQ and lifespan
 Normal muscle enzymes
 Fascioscapular and oculopharyngeal – see ULs
 Acquired
 P – Polymyositis/Dermatomyositis, polymyalgia rheumatica
 A – Alcohol
 C – Cancer
 H – HIV
 E – Endocrine (Acromegaly, Cushing’s, Thyroid), ESRF
 M – Mitochondrial myopathy (Myopathy, External ophthalmoplegia, red
ragged fibres and lactic acidemia), McArdle’s syndrome (weakness after
exercise)
 P – Periodic Paralysis
 O – osteomalacia
 D – Drugs
 S - Sarcoid
Optic atrophy
Examination
o Fundus
o Papilloedema
o Optic cup (Glaucoma)
o DM changes
o Retinitis pigmentosa
o Attenuated arterioles and veins as in CRAO
o Eye
o RAPD (MS)
o Argyll-Robertson pupil
o INO (MS)
o Nystagmus (MS and FA)
o Head
o Tender temporal arteritis
o Pb lines in the gums
o Paget’s facies
o 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

Questions
What are your differential diagnoses?
o Unilateral
o Demyelinating disease
o Compression (Tumor, aneurysm, Paget’s)
o Glaucoma
o Ischaemic
 Thromboembolic
 Vasculitis – temporal arteritis, tertiary syphilis
o 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)
Breaking Bad News – Terminal Illness eg Cancer

 Introduction
o Introduce myself
o Confirm her identity
o Ask if she has brought a family member and if she wants him to be around
 Opening statement
o State the purpose of the visit
o How have you been since the procedure/last visit
o What have the previous doctor explained to you
o What she understands about the disease
 Issues
o Note the tasks stated
 Breaking bad news (BBN)
 Address patient’s concerns
o Consider all topics in ethics
 BBN, end of life, negligence, counselling, pregnancy, driving, religion,
consent and others eg angry pt
o BBN
 Warning shot
 Tell her the report/news
 Allow pauses
 What she understands about report
 Explain simply eg “lymphoma is a type of cancer that is treatable”
 Give a Silver lining for the bad news (treatable, well established
treatment)
 Allow pauses and reaction
 More detailed explanation if patient is ready
o Address her concerns
 ICE
o Explain plans
 Refer her immediately to specialist, “I am not the expert”
 Ix plans
 Mx plans and treatment options
 Assure her – integrated center
o Her social support
 Family, trusted friend
 Work, Others eg Church
 Closing
o Summarise management plan
o Assure patient
o Arrange another appointment to meet up in a few days’ time to answer queries
o Bring a family member or friend next appointment
o Offer contact no as well as support group
o Contact GP if she wants as she maybe comfortable with him
o Arrange transport for her
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

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
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. Bilateral deforming polyarthropathy, and joint deformities, tender (activity)
2. sausage shaped fingers, tenosynovitis
3. wasting dorsal guttering and wasting of the thenar and hypothenar eminence
4. nails – pitting, onycholysis, subungal hyperkeratosis, discoloration of the nails
(80% involvement with arthropathy)
5. Skin patches – well circumscribed plagues on the extensor surfaces of the elbows
and scalp, with salmon pink hue and silvery scales
6. 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 - <10, 10-50, >50 for mild, moderate and severe respectively

What are the types of joint involvement in psoriasis?

 OA
 RA
 AS
 Oligo/mono
 Arthritis mutilans

Radiological features of psoriatic arthritis?

 Periostitis – “fluffy”
 Destruction of small joints
 “Pencil in cup appearance”
 Non –marginal syndesmophytes in AS type

What are the unique characteristics of psoriatic lesions?

 Salmon pink hue with silvery scales
 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

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 post-
Trauma, 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.
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.

Question
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

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?

 Defined as radiographic infiltrates with hypereosinophilia (>1.5 x109L)
 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 <90/60
 Age 65 and above
o 0 to 1 – low risk of death and home Rx
o 2 – increased risk of death and short hospitalization or supervised
home treatment
o 3 and above – high risk of death and urgent hospitalization
 Ix – FBC, CRP, Bld c/s (for those with severe indicators or co-morbidities),
sputum g/s and c/s, Lg and Pneumococcal Urine Ag only for severe
pneumonia
 Mx
o Use of SpO2 monitoring advocated in GP setting
o NIV not for use in severe pneumonia unless in ICU setting
o Antibiotics
 CAP- Penicillins or macrolides; fluoroquinolones if intolerant
or selected inpatient treatment with PO moxifloxacin preferred
over levofloxacin
o Discharge planning
 Should not be discharged within 24Hrs if have >1 of
 T >37.8
 HR>100
 RR>24
 SpO2<90%
 BP sys <90
 Inability to maintain oral intake
 Abnormal mental status

How do you mange pulmonary infarction? BTS 2003

 All patients with suspected PE should have clinical probability assessed
 Hence evaluate patients for
o SOB or tachypnea, chest pain or hemoptysis
o Absence of an alternative explanation (a)
o Presence of a major risk factor (b)
 Therefore if
o (a) and (b) present = high probability
o Only (a) or (b) present = intermediate probability
o None present = low probability
 D-dimer
o To use only if low or intermediate probability
o Highly specific = if negative, no need to do imaging
o Not to order if high probability; image immediately
 Imaging
o Done within 1 hr for massive and 24 hrs for non massive
o Imaging options
 CTPA
 Isotope lung scan
 Facilities available
 CXR normal
 No cardiopulmonary disorder
 Standardised reporting criteria
 Non-diagnostic results followed by other imaging
 USS DVT
 Can be used if presence of clinical DVT and if positive,
is sufficient to confirm VTE
 If negative, cannot be used to confirm absence of VTE
o Management
 Massive (BP compromised or cardiopulmonary collapse)
 Thrombolysis with alteplase (No lowering BP effect cf
with streptokinase)
 Thrombus fragmentation and IVC filters if expertise
present and available
 Non-massive PE
 NO thrombolysis
 Use of heparin before imaging in high or intermediate
clinical probability
 Use LMWH as first choice
 Use unfractionated heparin if
o First dose bolus
o Massive PE
o Acute reversal desired
 If VTE confirmed
o Commenced oral anticoagulation
o INR 2-3
o Duration is 4-6 wks for temporary risk factors. 3
months for first idiopathic episode and 6 months
for other clinical situations
 Special populations
o Pregnancy
 LMWH during pregnancy
 UFH approaching delivery
 UFH stopped or reduced 4-6hrs prior
delivery
 Oral anticoagulation commenced after
delivery and continued for 6 weeks or 3
months after PE whichever is longer
o Cancer patients
 Oral anticoagulation as per above
 Duration unknown
 Higher risk of thrombosis and bleeding
 If recurrent thrombosis
 INR 3-3.5 or
 LMWH + anticoagulation or
 IVC
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.

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
 <100wbc/ml

How would you manage?

 Education and counseling
o Appropriate footware
o Weight management
 PT/OT
 Pharmocotherapy
o Glucosamine, chondroitin sulphate, glycosaminoglycans
o Drugs
 Analgesia – paracetamol, NSAIDs, Opiods
 Tetracycline (inhibit enzyme that breaks down cartilage)
 Diacerin (Anti IL-1)
 Hydroxychloroquine
o Intra-articular steroids
o Visco-supplementation (hyaluronic intra-articular injection)
 Surgery - Knee and hip replacement
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)

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)

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)
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.
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?

 Rare disorder, 4th to 5th 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
Other Eye Conditions

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

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

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

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)
Consent

Consent for Procedure/treatment

 Explanation of condition leading to the procedure, update condition
 Explain indications
 Explain contraindications
 Explain procedure details (pre, during and post)
 Explain side effects and monitoring after that
 Explain consequences of not doing the procedure
 Explore concerns and expectations
 Always check back with the patient if he/she understands
 Offer options and option not to treat
 Give time to consider

Consent from a Mentally Incapacitated Patient/ Emergency

 Same as above but note:
 Verify patient’s relative status, is she the official proxy (In Scotland)
 It is the responsibility of doctor to decide mental capacity
o If limited, have to explain to patient still in simple terms
 Best interest principle
o Options considered and individualized
o Patient’s opinion previously, advance statement
 Autonomy overrides beneficence
o Patient’s views from a third party, eg close relative
o Necessity principle
 Procedure to ensure improvement or prevent deterioration, safe
patient life
 Note that even in emergency, if patient has refused treatment
previously which is life saving, doctors should not proceed
 If discrepancy regarding patient’s capacity, engage senior psychiatrist opinion or
“appointed medical practitioners” (in Scotland)
 Advance directives
o Patient has a right to refuse treatment
o Patient can request for treatment but doctors are not obliged to follow
o Only exception to requesting for treatment is that doctors should proceed
with CPR if patient insist even though doctors do not feel it is appropriate
 Above applies for temporary incapacitation as in patient involved in RTA with
ICH
 If there is a conflict between relatives and doctor, plan is to
o Speak to my consultant
o Say that we acknowledge relatives and patient’s wishes
o Ask her to speak to her other relatives
o Make another appointment with consultant and significant others
 Assessment of capacity – ReC test (Comprehend and retain treatment
information, believe it, weight it up and arrive at choice)
Consent from Children (<16 years)
 In Scotland, if child is deemed to understand and make his/her own decision, the child
can make decision, ie “Gillick competent”; this applies only to consenting and not to
refusal of treatment
 If there is discrepancy between child and doctors opinion in “best interest” principle,
seek advice from the Courts
 Parental consent can be taken if child cannot make consent
o Just one parent’s consent is sufficient
o Both parents must be married at the time child was conceived and born
o If not married, only mother has parental rights
 An adult is 18 years and older, but wrt consent, 16 and 17 year olds are considered as
adult
 For a pregnant female, she makes decision for both herself and the child even though
decision may endanger the life of the unborn child

Consent for Clinical Trial

 Update condition
 Explain aim and purpose of trial and that he is a suitable candidate
 Providing an option for him
 Assure that it has been approved by Ethics committee
 Explain trial
o Method of treatment
o Drug vs placebo
o Blinding
o Advantages
o Side effects
o Monitoring
 Reassure
o No change in standard medication and care of treatment whether or not he
ants or do not want to participate; treatment of complication
o Others have participated in the trial
o Autonomy – can opt out any time
o Beneficience – trail may stop prematurely if there is an obvious
danger/advantage
o Confidentiality – assure this but sponsors and ethic committee and GP
o Financial aspects of extra Ix and Mx
 Give time to decide
o Information and phone no
o Obtain consent in writing
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
 Cerebellar
 Unilateral or bilateral
 + high stepping = Sensory ataxia
 Peripheral neuropathy or dorsal column loss
o 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