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Cases For PACES > Neuro (station 3) > Flashcards

Neuro (station 3) Flashcards

1
Q

Genetics of myotonic dystrophy?

A

Dystrophia myotonica (DM) can be categorised as type 1 or 2 depending on the underling genetic defect.
⚬ DM1: expansion of CTG trinucleotide repeat sequence within DMPK gene on
chromosome 19
⚬ DM2: expansion of CCTG tetranucleotide repeat sequence within ZNF9 gene on chromosome 3

Autosomal dominant

Genetic anticipation- presents in earlier age with successive generations

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2
Q

At what age do you expect a patient with myotonic dystrophy to present?

A

DM1 usually presents in 20s–40s (DM2 later), but can be very variable depending on number of triplet repeats.

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3
Q

In what conditions do you see genetic anticipation?

A

genetic anticipation: worsening severity of the condition and earlier age of
presentation within successive generations.

Seen in DM1, Huntington’s chorea (autosomal dominant) and Friedrich’s ataxia (autosomal recessive).

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4
Q

Facial clinical signs of myotonic dystrophy?

A

• Myopathic facies: long, thin and expressionless
• Wasting of facial muscles and sternocleidomastoid
• Bilateral ptosis
• Frontal balding
• Dysarthria: due to myotonia of tongue and pharynx

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5
Q

Clinical signs of myotonic dystrophy in the hands?

A

• myotonia: ‘Grip my hand, now let go’ (may be obscured by profound weakness). ‘Screw up your eyes tightly shut, now open them’.
• wasting and weakness of distal muscles with areflexia.
• Percussion myotonia: percuss thenar eminence and watch for involuntary thumb flexion.

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6
Q

Additional non neurological signs in a patient with myotonic dystrophy

A

• Cataracts
• Cardiomyopathy, brady‐ and tachy‐arrhythmias (look for pacemaker scar)
• Diabetes (ask to dip urine)
• Testicular atrophy
• Dysphagia (ask about swallowing)

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7
Q

Diagnosis of myotonic dystrophy?

A

• Clinical features
• EMG: ‘dive‐bomber’ potentials
• Genetic testing

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8
Q

Mx of myotonic dystrophy

A

• Affected individuals die prematurely of respiratory and cardiac complications
• Weakness is major problem – no treatment
• Phenytoin may help myotonia
• Advise against general anaesthetic (high risk of respiratory/cardiac complications)

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9
Q

Common causes of ptosis

A
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10
Q

Clinical signs of cerebellar syndrome

A

Scanning dysarthria
Outstretched hands: rebound phenomenon

Face: nystagmus
UL: dysdiadochokinesia, hypotonia, hyporeflexia
LL: wide based ataxic gait

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11
Q

How to tell if cerebellar vermis vs hemisphere affected?

A

• Cerebellar vermis lesions produce an ataxic trunk and gait but the limbs are normal when tested on the bed

• Cerebellar lobe lesions produce ipsilateral cerebellar signs in the limbs

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12
Q

Nystagmus direction in cerebellar lesion

A

The fast-phase direction is TOWARDS the side of the lesion, and is maximal on looking TOWARDS the lesion.

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13
Q

Nystagmus in vestibular nucleus / VIII nerve lesion

A

fast-phase direction is AWAY FROM the side of the lesion, and is maximal on looking AWAY FROM the lesion.

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14
Q

Causes of cerebellar syndrome

A

PASTRIES

  • Paraneoplastic cerebellar syndrome
  • alcoholic cerebellar degeneration
  • Sclerosis (MS)
  • tumour (posterior fossa SOL)
  • rare (Friedrich’s and ataxia telangiectasia)
  • iatrogenic (phenytoin toxicity)
  • Endocrine (hypothyroidism)
  • Stroke (brain stem vascular event)
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15
Q

Cerebellar syndrome + gingival hypertrophy?

A

Phenytoin toxicity

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16
Q

Cerebellar syndrome + unkempt appearance + stigmata of liver disease?

A

ETOH

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17
Q

Cerebellar syndrome + neuropathy ?

A

ETOH, friedrich’s ataxia

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18
Q

Cerebellar syndrome + clubbing, tar stained fingers, radiotherapy burns

A

Bronchial carcinoma

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19
Q

Cerebellar syndrome + optic atrophy?

A

MS, friedrichs ataxia

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20
Q

Cerebellar syndrome + Internuclear opthalmoplegia, spasticity, female, younger age

A

MS

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21
Q

Clinical signs in multiple sclerosis?

A

• inspection: ataxic handshake and wheelchair
• Cranial nerves: internuclear ophthalmoplegia (frequently bilateral in MS), optic atrophy, reduced visual acuity, and any other cranial nerve palsy

• Peripheral nervous system: Upper‐motor neurone spasticity, weakness, brisk reflexes and altered sensation
• Cerebellar syndrome: ‘DANISH’

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22
Q

Features of internuclear ophthalmoplegia?

A
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23
Q

Diagnostic criteria for MS?

A

Central nervous system demyelination (plaques) causing neurological impairment that is disseminated in both time and space.

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24
Q

Cause of multiple sclerosis?

A

Unknown, but both genetic – (HLA‐DR2, interleukin‐2 and ‐7 receptors) and environmental factors (increasing incidence with increasing latitude, association with Epstein–Barr virus infection) appear to play a role.

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25
Q

Ix of multiple sclerosis

A

Clinical diagnosis plus
• CSF: oligoclonal IgG bands
• MRI: periventricular white matter plaques
• Visual evoked potentials (VEPs): delayed velocity but normal amplitude (evidence of previous optic neuritis)

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26
Q

Other clinical features of MS apart from neurological impairment disseminated in both space and time?

A

• Higher mental function: depression, occasionally euphoria
• Autonomic: urinary retention/incontinence, impotence and bowel problems

  • Uthoff’s phenomenon: worsening of symptoms after a hot bath or exercise
  • lhermitte’s sign: lightning pains down the spine on neck flexion due to cervical cord plaques
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27
Q

Treatment of MS?

A

multidisciplinary approach
- Nurse, physiotherapist, occupational therapist, social worker and physician.

Disease modifying treatments
• Interferon‐beta and Glatiramer reduce relapse rate but don’t affect progression. • Monoclonal antibody therapy potentially offers greater benefits; reducing disease progression and accumulated disability, e.g. Alemtuzumab (anti‐CD52) – lymphocyte depletion, Natalizumab (anti‐α4 integrin) – blocks T‐cell trafficking. Toxicity may limit their use.

Symptomatic treatments
• Methyl‐prednisolone during the acute phase may shorten the duration of the ‘attack’ but does not affect the prognosis.
• Anti‐spasmodics, e.g. Baclofen.
• Carbamazepine (for neuropathic pain)
• Laxatives and intermittent catheterization/oxybutynin for bowel and bladder disturbance

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28
Q

Prognosis of multiple sclerosis?

A

Variable: The majority will remain ambulant at 10 years.

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29
Q

MS and pregnancy?

A

• Reduced relapse rate during pregnancy
• Increased risk of relapse in postpartum period
• Safe for foetus (possibly reduced birth weight)

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30
Q

Clinical signs in stroke

A

• inspection: walking aids, nasogastric tube or PEG tube, posture (flexed upper limbs and extended lower limbs), wasted or oedematous on affected side.

• tone: spastic rigidity, ‘clasp knife’ (resistance to movement, then sudden release).
Ankles may demonstrate clonus (>4 beats).

• Power: reduced.

• Coordination: sometimes reduced. Usually impaired due to weakness but may reflect cerebellar involvement in posterior circulation stroke.

• reflexes: brisk with extensor plantars

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31
Q

MRC power grading?

A

0, none
1, flicker
2, moves with gravity neutralized
3, moves against gravity
4, reduced power against resistance
5, normal

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32
Q

Signs that may reveal underlying cause of stroke?

A

irregular pulse (AF)
blood pressure
cardiac murmurs
carotid bruits (anterior circulation stroke)

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33
Q

Why is frontalis spared in stroke

A

frontalis muscle receives bilateral supranuclear innervation and, thus, strokes that occur above the facial nucleus (i.e., cortical, subcortical, and upper pontine strokes) will spare the upper facial muscles

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34
Q

Stroke vs TIA definition?

A

• Stroke: rapid onset, focal neurological deficit due to a vascular lesion lasting > 24 hours.
• transient ischaemic attack (tia): focal neurological deficit lasting < 24 hours

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35
Q

Ix in suspected stroke

A

• Bloods: FBC, CRP/ESR (young CVA may be due to arteritis), glucose and renal function
• ECG: AF or previous infarction
• Cxr: cardiomegaly or aspiration
• Ct head: infarct or bleed, territory
• Consider echocardiogram, carotid Doppler, MRI/A/V (dissection or venous sinus thrombosis in young patient), clotting screen (thrombophilia), vasulitis screen in young CVA

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36
Q

Acute mx of stroke

A

• Thrombolysis with tPA (within 4.5 hours of acute ischaemic stroke)
+/- mechanical thrombectomy
• antiplatelet therapy

• Referral to a specialist stroke unit: multidisciplinary approach: physiotherapy,
occupational therapy, speech and language therapy and specialist stroke rehabilitation nurses
• DVT prophylaxis

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37
Q

Chronic management of stroke

A

• Carotid endarterectomy in patients who have made a good recovery, e.g. in PACS (if >70% stenosis of the ipsilateral internal carotid artery)
• Anticoagulation for cardiac thromboembolism
• Address cardiovascular risk factors
• Nursing +/− social care.

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38
Q

Features of total anterior circulation stroke

A

• Hemiplegia (contra‐lateral to the lesion)
• Homonomous hemianopia (contra‐lateral to the lesion)
• Higher cortical dysfunction, e.g. dysphasia, dyspraxia and neglect

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39
Q

Features of partial anterior circulation stroke

A

2/3 of

• Hemiplegia (contra‐lateral to the lesion)
• Homonomous hemianopia (contra‐lateral to the lesion)
• Higher cortical dysfunction, e.g. dysphasia, dyspraxia and neglect

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40
Q

Dominant parietal lobe cortical signs

A

• Dysphasia: receptive, expressive or global
• gerstmann’s syndrome
⚬ Dysgraphia, dyslexia and dyscalculia
⚬ L‐R disorientation
⚬ Finger agnosia

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41
Q

Non dominant parietal lobe stroke signs

A

• Dressing and constructional apraxia
• Spatial neglect

Either
• Sensory and visual inattention
• Astereognosis
• Graphaesthesia

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42
Q

Features of lateral medullary syndrome?

A
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43
Q

Clinical signs of spastic legs?

A

• Wheelchair and walking sticks (disuse atrophy and contractures may be present if chronic)
• Increased tone and ankle clonus
• Generalized weakness
• Hyper‐reflexia and extensor plantars
• Gait: ‘scissoring’

additional signs
• Examine for a sensory level suggestive of a spinal lesion
• Look at the back for scars or spinal deformity
• Search for features of multiple sclerosis, e.g. cerebellar signs, fundoscopy for optic
atrophy
• Ask about bladder symptoms and note the presence or absence of urinary catheter.

Offer to test anal tone

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44
Q

Causes of spastic legs?

A

Common:
• Multiple sclerosis
• Spinal cord compression/cervical myelopathy
• Trauma
• Motor neurone disease (no sensory signs)

Other Causes
• Anterior spinal artery thrombosis: dissociated sensory loss with preservation of dorsal columns
• Syringomyelia: with typical upper limb signs
• Hereditary spastic paraplegia: stiffness exceeds weakness, positive family history
• Subacute combined degeneration of the cord: absent reflexes with upgoing plantars
• Friedreich’s ataxia
• Parasagittal falx meningioma

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45
Q

Some causes of cord compression?

A

⚬ Disc prolapse (above L1/2)
⚬ Malignancy
⚬ Infection: abscess or TB
⚬ Trauma: # vertebra

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46
Q

Mx cord compression?

A

⚬ Urgent surgical decompression
⚬ Consider steroids and radiotherapy (for a malignant cause)

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47
Q

Lower limb dermatomes

A
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48
Q

Lower limbs which action to test which spinal root

A
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49
Q

What is syringomyelia?

A

Syringomyelia is caused by a progressively expanding fluid filled cavity (syrinx) within the cervical cord, typically spanning several levels.

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50
Q

What structures does a syringomyelia affect?

A

Syrinx expands ventrally affecting:
1 Decussating spinothalamic neurones producing segmental pain and temperature loss at the level of the syrinx.

2 Anterior horn cells producing segmental lower motor neurone weakness at the level of the syrinx.

3 Corticospinal tract producing upper motor neurone weakness below the level of the syrinx.

It usually spares the dorsal columns 4 (proprioception).

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51
Q

Syringomyelia associated with?

A

Arnold–Chiari malformation and spina bifida

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52
Q

Clinical signs of Syringomyelia?

A

• Weakness and wasting of small muscles of the hand
• Loss of reflexes in the upper limbs
• Dissociated sensory loss in upper limbs and chest: loss of pain and temperature sensation (spinothalamic) with preservation of joint position and vibration sense (dorsal columns)
• Scars from painless burns
• Charcot joints: elbow and shoulder

additional signs
• Pyramidal weakness in lower limbs with upgoing (extensor) plantars
• Kyphoscoliosis is common
• Horner’s syndrome
• If syrinx extends into brain stem (syringobulbia) there may be cerebellar and lower cranial nerve signs

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53
Q

What is a Charcot joint

A

Painless deformity and destruction of a joint with new bone formation following repeated minor trauma secondary to loss of pain sensation

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54
Q

Causes of Charcot joint?

A

⚬ Tabes dorsalis: hip and knee
⚬ Diabetes: foot and ankle
⚬ Syringomyelia: elbow and shoulder

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55
Q

Treatment of Charcot joint

A

bisphosphonates can help

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56
Q

Cervical roots - power and reflexes

A
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57
Q

What is motor neuron disease

A

MND is a progressive disease of unknown aetiology
• There is axonal degeneration of upper and lower motor neurones

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58
Q

Types of motor neuron disease

A

• amyotrophic lateral sclerosis (50%): affecting the cortico‐spinal tracts predominantly producing spastic paraparesis or tetraparesis.

• Progressive muscular atrophy (25%): affecting anterior horn cells predominantly producing wasting, fasciculation and weakness. Best prognosis.

• Progressive bulbar palsy (25%): affecting lower cranial nerves and suprabulbar nuclei producing speech and swallow problems. worst prognosis.

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59
Q

Ix of Motor neuron disease?

A

• Clinical diagnosis
• Emg: fasciculation
• MRI (brain and spine): excludes the main differential diagnoses of cervical cord compression and myelopathy and brain stem lesions

60
Q

Mx of motor neuron disease

A

• Supportive, e.g. PEG feeding and NIPPV
• Multidisciplinary approach to care
• Riluzole (glutamate antagonist): slows disease progression by an average of 3 months but does not improve function or quality of life and is costly

61
Q

Prognosis of motor neuron disease

A

• Most die within 3 years of diagnosis from bronchopneumonia and respiratory failure. Some disease variants may survive longer.
• Worst if elderly at onset, female and with bulbar involvement.

62
Q

Causes of generalised wasting of hand muscles?

A

anterior horn cell
⚬ MND
⚬ Syringomyelia
⚬ Cervical cord compression
⚬ Polio

Brachial plexus:
⚬ Cervical rib
⚬ Pancoast’s tumour
⚬ Trauma

Peripheral nerve:
⚬ Combined median and ulnar nerve lesions
⚬ Peripheral neuropathy

muscle
⚬ Disuse atrophy, e.g. rheumatoid arthritis

63
Q

What is fasciculation?

A

Visible muscle twitching at rest

64
Q

Causes of fasciculations

A

axonal loss results in the surviving axons recruiting and innervating more
myofibrils than usual resulting in large motor units

65
Q

Fasciculations commonly seen in?

A

MND, syringomyelia

66
Q

Clinical signs of Parkinson’s disease?

A

• Expressionless face with an absence of spontaneous movements.
• Coarse, pill‐rolling, 3–5 Hz tremor. Characteristically asymmetrical.
• Bradykinesia (demonstrated by asking patient to repeatedly oppose each digit onto thumb in quick succession).
• Cogwheel rigidity at wrists (enhanced by synkinesis – simultaneous movement of the other limb (tap opposite hand on knee, or wave arm up and down) ).
• Gait is shuffling and festinant. Absence of arm swinging – often asymmetrical.
• Speech is slow, faint and monotonous.

in addition
• BP looking for evidence of multisystem atrophy: Parkinsonism with postural
hypotension, cerebellar and pyramidal signs.
• Test vertical eye movements (up and down) for evidence of progressive
supranuclear palsy.
• Dementia and Parkinsonism: lewy‐body dementia.
• Ask for a medication history

67
Q

Causes of Parkinsonism?

A
  • Parkinson’s disease (idiopathic)
  • Parkinson plus syndromes:
    Multisystem atrophy (Shy–Drager)
    Progressive supranuclear palsy (Steele–Richardson–Olszewski)
    Corticobasal degeneration; unilateral Parkinsonian signs
  • Drug‐induced, particularly phenothiazines
  • Anoxic brain damage
  • Post‐encephalitis
  • MPTP toxicity (‘frozen addict syndrome’)
68
Q

Pathophysiology of Parkinson’s disease

A

Degeneration of the dopaminergic neurones between the substantia nigra and basal ganglia.

69
Q

Treatment options for Parkinson’s disease?

A

• l‐Dopa with a peripheral Dopa‐decarboxylase inhibitor, e.g. Madopar/co‐beneldopa:
⚬ Problems with nausea and dyskinesia
⚬ Effects wear off after a few years so generally delay treatment as long as possible
⚬ End‐of‐dose effect and on/off motor fluctuation may be reduced by modified release preparations

• Dopamine agonists, e.g. Pergolide:
⚬ Use in younger patients: less side effects (nausea and hallucinations) and save l‐Dopa until necessary
⚬ apomorpine (also dopamine agonist) given as an SC injection or infusion; rescue therapy for patients with severe ‘off’ periods

• mao‐B inhibitor, e.g. Selegiline, inhibit the breakdown of dopamine

• anti‐cholinergics, can reduce tremor, particularly drug‐induced

• Comt inhibitors, e.g. Entacapone, inhibit peripheral breakdown of l‐Dopa thus
reducing motor fluctuations

• amantadine, increases dopamine release

• Surgery; deep‐brain stimulation (to either the subthalamic nucleus or globus pallidus)
> helps symptoms

70
Q

Causes of tremor?

A

• resting tremor: Parkinson’s disease
• Postural tremor (worse with arms outstretched):
⚬ Benign essential tremor (50% familial) improves with EtOH
⚬ Anxiety
⚬ Thyrotoxicosis
⚬ Metabolic: CO2 and hepatic encephalopathy
⚬ Alcohol
• intention tremor: seen in cerebellar disease

71
Q

Most common types of Hereditary sensory motor neuropathy? HSMN
Aka Charcot Marie tooth

A

Most common types are I (demyelinating) and II (axonal)

72
Q

Clinical signs of hereditary sensory motor neuropathy e.g Charcot Marie tooth disease, peroneal muscular atrophy?

A

• Wasting of distal lower limb muscles with preservation of the thigh muscle bulk (inverted champagne bottle appearance)
• Pes cavus (seen also in Friedreich’s ataxia)
• Weakness of ankle dorsi‐flexion and toe extension
• Variable degree of stocking distribution sensory loss (usually mild)
• Gait is high stepping (due to foot drop) and stamping (absent proprioception)
• Wasting of hand muscles
• Palpable lateral popliteal nerve

73
Q

Causes of predominantly sensory peripheral neuropathy

A

• Diabetes mellitus
• Alcohol
• Drugs, e.g. isoniazid and vincristine
• Vitamin deficiency, e.g. B12 and B1

74
Q

Causes of predominantly motor peripheral neuropathy

A

• Guillain–Barré and botulism present acutely
• Lead toxicity
• Porphyria
• HSMN

75
Q

Causes of mononeuritis multiplex

A

• Diabetes mellitus
• Connective tissue disease, e.g. SLE and rheumatoid arthritis
• Vasculitis, e.g. polyarteritis nodosa and Churg–Strauss
• Infection, e.g. HIV
• Malignancy

76
Q

inheritance pattern of Friedreich’s ataxia?

A

autosomal recessive

77
Q

onset and prognosis for Friedreich’s ataxia?

A

onset during teenage years,
survival rarely exceeds 20 years from diagnosis

78
Q

signs of Friedreich’s ataxia?

A
  • Young adult, wheelchair (or ataxic gait)
  • Pes cavus
  • Bilateral cerebellar ataxia (ataxic hand shake + other arm signs, dysarthria, nystagmus)
  • Leg wasting with absent reflexes and bilateral upgoing plantars
  • Posterior column signs (loss of vibration and joint position sense)

other signs
* Kyphoscoliosis
* Optic atrophy (30%)
* High‐arched palate
* Sensorineural deafness (10%)
* Listen for murmur of HOCM
* Ask to dip urine (10% develop diabetes)

79
Q

what heart condition is Friedreich’s ataxia associated with?

A

HOCM

80
Q

Causes of extensor plantars with absent knee reflexes?

A
  • Friedreich’s ataxia
  • Subacute combined degeneration of the cord
  • Motor neurone disease
  • Taboparesis (syphilis)
  • Conus medullaris lesions
  • Combined upper and lower pathology, e.g. cervical spondylosis with peripheral
    neuropathy
81
Q

what is bell’s phenomenon?

A

eyeball rolls upwards on attempted eye closure

82
Q

signs of facial nerve palsy

A
  • Unilateral facial droop, absent nasolabial fold and forehead creases
  • Inability to raise the eyebrows (frontalis), screw the eyes up (orbicularis oculi) or smile
    (orbicularis oris)
83
Q

facial nerve palsy + parotid mass/scar?

A

parotid tumour, trauma to neck/face

84
Q

facial nerve palsy + VIII, V nerve involvement + cerebellar signs?

A

lesion at cerebellopontine angle e.g. acoustic neuroma

85
Q

Facial nerve and VIII nerve palsy?

A

lesion at internal acoustic meatus/ facial canal
e.g. cholesteatoma, abscess

86
Q

facial nerve palsy and long tract signs?

A

lesion might be at level of pons
(where facial nerve exits)
e.g. MS, stroke

87
Q

Causes of isolated facial nerve palsy?

A

commonest: Bell’s palsy
- Herpes zoster (Ramsay Hunt syndrome)
- Mononeuropathy due to diabetes, sarcoidosis or Lyme disease
- Tumour/Trauma
- MS/ stroke

88
Q

features of Bell’s palsy?

A
  • rapid onset (1-2 days)
  • HSV 1 has been implicated
  • induced swelling and compression of the nerve within the facial canal causes demyelination and temporary conduction block
89
Q

treatment of Bell’s palsy?

A

prednisolone commenced within 72h of onset improves outcomes + aciclovir if severe (as HSV1 has been implicated)

eye protection: artificical tears, tape eye closed at night

90
Q

prognosis of bell’s palsy?

A

70-80% make full recovery, substantial minority have persistent facial weakness

more common in pregnancy, outcome may also be worse

91
Q

causes of bilateral facial palsy?

A
  • Guillain Barre
  • Myasthenia gravis
  • Bilateral Bell’s palsy
  • Sarcoidosis
  • Lyme disease
92
Q

pathophysiology of myasthenia gravis?

A

Anti‐nicotinic acetylcholine receptor (anti‐AChR) antibodies affect motor
end‐plate neurotransmission

93
Q

associated conditions of myasthenia gravis?

A

other autoimmune diseases, e.g. diabetes mellitus, rheumatoid arthritis,
thyrotoxicosis, SLE and thymomas

94
Q

clinical signs of myasthenia gravis

A
  • Bilateral ptosis (worse on sustained upward gaze)
  • Complicated bilateral extra‐ocular muscle palsies
  • Myasthenic snarl (on attempting to smile)
  • Nasal speech, palatal weakness and poor swallow (bulbar involvement)
  • Demonstrate proximal muscle weakness in the upper limbs and fatiguability. The
    reflexes are normal
  • Look for sternotomy scars (thymectomy)
  • State that you would like to assess respiratory muscle function (FVC)
95
Q

Ix of myasthenia gravis?

A

For diagnosis:
* Anti‐AChR antibodies positive in 90% of cases
* Anti‐MuSK (muscle‐specific kinase) antibodies often positive if anti‐AChR negative
* EMG: decremented response to a titanic train of impulses
* Edrophonium (Tensilon) test: an acetylcholine esterase inhibitor increases the concentration of ACh at the motor end plate and hence improves the muscle weakness. Can cause heart block and even asystole.

Others
* CT or MRI of the mediastinum (thymoma in 10%)
* TFTs (Grave’s present in 5%)

96
Q

treatment of myasthenia gravis?

A

acute:
* IV immunoglobulin or plasmapheresis (if severe)

Chronic:
* Acetylcholine esterase inhibitor, e.g. pyridostigmine
* Immunosuppression: steroids and azathioprine
* Thymectomy is beneficial even if the patient does not have a thymoma (usually young females)

97
Q

causes of bilateral ptosis?

A
  • Congenital
  • Senile
  • Myasthenia gravis
  • Myotonic dystrophy
  • Mitochondrial cytopathies, e.g. Kearns–Sayre syndrome
  • Bilateral Horner’s syndrome
98
Q

causes of bilateral extra-ocular palsies?

A
  • Myasthenia gravis
  • Graves’ disease
  • Mitochondrial cytopathies, e.g. Kearns–Sayre syndrome
  • Miller–Fisher variant of Guillain–Barré syndrome
  • Cavernous sinus pathology
99
Q

features of Lambert Eaton Myasthenic syndrome?

A
  • Diminished reflexes that become brisker after exercise
  • Lower limb girdle weakness (unlike myasthenia gravis)
  • Associated with malignancy, e.g. small‐cell lung cancer
100
Q

antibodies associated with lambert eaton myasthenic syndrome?

A

Antibodies block pre‐synaptic calcium channels

101
Q

EMG finding of Lambert Eaton Myasthenic Syndrome?

A

EMG shows a ‘second wind’ phenomenon on repetitive stimulation

102
Q
A

Central Retinal Vein Occlusion

Clinical features:
* Flame haemorrhages +++ radiating out from a swollen disc
* Engorged tortuous veins
* Cotton wool spots

103
Q

features of central retinal revin occlusion on fundoscopy?

A
  • Flame haemorrhages +++ radiating out from a swollen disc
  • Engorged tortuous veins
  • Cotton wool spots
  • Cause: look for diabetic or hypertensive changes (visible in branch retinal vein
    occlusion)
  • Effect: Rubeosis iridis causes secondary glaucoma (in central retinal vein occlusion),
    visual loss or field defect.
    > rubeosis iridis, is when, blood vessels develop on the anterior surface of the iris in response to retinal ischemia.
104
Q

Causes of Central Retinal Vein occlusion?

A
  • Hypertension
  • Hyperglycaemia: diabetes mellitus
  • Hyperviscocity: Waldenström’s macroglobulinaemia or myeloma
  • High intraocular pressure: glaucoma
105
Q
A

Central Retinal Artery Occlusion

106
Q

Clinical signs of Central retinal artery occlusion?

A
  • Pale, milky fundus with thread‐like arterioles
  • ± Cherry red macula (choroidal blood supply)
  • Cause: AF (irregular pulse) or carotid stenosis (bruit)
  • Effect: optic atrophy and blind (white stick)

Note that branch retinal artery occlusion will have a field defect opposite to the quadrant of affected retina

107
Q

causes of central retinal artery occlusion?

A
  • Embolic: carotid plaque rupture or cardiac mural thrombus
    > Treatment: aspirin, anti‐coagulation and endarterectomy
  • giant cell arteritis: tender scalp and pulseless temporal arteries
    > treatment: high‐dose steroid urgently, check ESR and arrange temporal artery biopsy to confirm diagnosis
108
Q
A

Retinitis pigmentosa

Peripheral retina ‘bone spicule pigmentation’, which follows the veins and spares the macula.

Optic atrophy due to neuronal loss (consecutive).

109
Q

clinical signs of retinitis pigmentosa?

A
  • White stick and braille book (registered blind)
  • Reduced peripheral field of vision (tunnel vision)
  • Fundoscopy:
  • Peripheral retina ‘bone spicule pigmentation’, which follows the veins and spares the macula.
  • Optic atrophy due to neuronal loss (consecutive).
  • Association: cataract (absent red reflex)
110
Q

clinical signs to search for underlying cause of retinitis pigmentosa?

A
  • ataxic: Friedreich’s ataxia, abetalipoproteinaemia, Refsum’s disease, Kearns–Sayre syndrome
  • Deafness (hearing‐aid/white stick with red stripes): Refsum’s disease, Kearns– Sayre syndrome, Usher’s disease
  • ophthalmoplegia/ptosis and permanent pacemaker: Kearns–Sayre syndrome
  • Polydactyly: Laurence–Moon–Biedl syndrome
  • icthyosis: Refsum’s disease
111
Q

what is retinitis pigmentosa?

A

Inherited form of retinal degeneration characterized by loss of photo receptors

112
Q

causes of retinitis pigmentosa?

A
  • Congenital: often autosomal recessive inheritance, 15% due to rhodopsin pigment mutations
  • Acquired: post‐inflammatory retinitis
113
Q

prognosis of retinitis pigmentosa?

A
  • Progressive loss of vision due to retinal degeneration. Begins with reduced night vision. Most are registered blind at 40 years, with central visual loss in the seventh decade
  • No treatment although vitamin A may slow disease progression
114
Q

causes of tunnel vision?

A
  • Papilloedema
  • Glaucoma
  • Choroidoretinitis
  • Migraine
  • Hysteria
115
Q

fundoscopy findings of age related macular degeneration?

A
  • Wet (neovascular and exudative) or dry (non‐neovascular, atrophic and non‐exudative)

Macular changes:
⚬ Drusen (extracellular material)
⚬ Geographic atrophy
⚬ Fibrosis
⚬ Neovascularization (wet)

116
Q

risk factors for age related macular degeneration?

A
  • Age, white race, family history and smoking
  • Wet AMD have a higher incidence of coronary heart disease and stroke
117
Q

treatment of age related macular degeneration?

A
  • Ophthalmology referral
  • Wet AMD may be treated by intravitreal injections of anti‐VEGF (though can increase
    cerebrovascular and cardiovascular risk)
118
Q

prognosis of age related macular degeneration?

A

Majority of patients progress to blindness in the affected eye within 2 years of diagnosis

119
Q

what is relative afferent pupillary defect?

A

dilatation of the pupil on moving the light source from the normal eye (consensual reflex) to the abnormal eye (direct reflex)

120
Q

Clinical signs of optic atrophy?

A
  • RAPD
  • Fundoscopy: disc pallor
  • look for cause of optic atrophy
121
Q

what clinical signs may suggest underlying cause of optic atrophy?

A

Fundoscopy:
* glaucoma (cupping of the disc)
* retinitis pigmentosa
* Central retinal artery occlusion
* frontal brain tumour: foster–kennedy syndrome (papilloedema in one eye due to
raised intercranial pressure and optic atrophy in the other due to direct compression by the tumour)

From end of the bed
* Cerebellar signs, e.g. nystagmus: multiple sclerosis (internuclear ophthalmoplegia), friedreich’s ataxia (scoliosis and pes cavus)
* Large bossed skull: Paget’s disease (hearing aid)
* Argyll–Robertson pupil: tertiary syphilis

122
Q

causes of optic atrophy?

A

PALE DISCS

Pressure: tumour, glaucoma and Paget’s
Ataxia: Friedreich’s ataxia
LEber’s Hereditary Optic Neuropathy

Diet: ↓B12, Degenerative: retinitis pigmentosa
Ischaemia: central retinal artery occlusion
Syphilis and other infections, e.g. CMV and toxoplasmosis
Cyanide and other toxins, e.g. alcohol, lead and tobacco
Sclerosis: MS

*most commonly pressure cause

123
Q

Down and out pupil with ptosis?

A

Cranial nerve 3 palsy

124
Q

Down and out pupil with normal rather than dilated pupil?

A

Medical cause of CNIII palsy

Surgical causes often impinge on the superficially located papillary fibres running in the III nerve

125
Q

‘Surgical’ causes of CN III palsy?

A

Communicating artery aneurysm (posterior)

Cavernous sinus pathology: thrombosis, tumour or fistula (IV, V and VI may also be affected)

Cerebral uncus herniation

126
Q

‘Medical’ causes of cranial nerve 3 palsy?

A

mononeuritis multiplex, e.g. DM
Midbrain demyelination (MS)
Midbrain infarct ie. Webers
Migraine

127
Q
A

Argyll Robertson pupil

128
Q

Clinical signs of Argyll Robertson pupil?

A
  • Offer to look for sensory ataxia (tabes dorsalis)
129
Q

causes of argyll robertson pupil

A

Usually a manifestation of quaternary syphilis, but it may also be caused by diabetes mellitus

130
Q

ix for quarternary syphilis

A

TPHA (Treponema Pallidum Hemagglutination Assay) or FTA (fluorescent treponemal antibody), which remain positive for the duration of the illness

131
Q

tx of quarternary syphilis

A

penicillin

132
Q

clinical features of CNIII palsy?

A
133
Q

some surgical causes of CNIII palsy?

A
  • Communicating artery aneurysm (posterior)
  • Cavernous sinus pathology: thrombosis, tumour or fistula (IV, V and VI may also be affected)
  • Cerebral uncus herniation
134
Q

‘medical’ causes of CNIII palsy? ie. pupil may not be affected

A
  • mononeuritis multiplex, e.g. DM
  • midbrain infarction: Weber’s
  • midbrain demyelination (MS)
135
Q

signs of Holmes-Adie pupil

A
136
Q

what to tell patient about holmes-adie pupil?

A

A benign condition that is more common in females. Reassure the patient that nothing is wrong.

137
Q

examination in Horner’s syndrome

A
138
Q

Types of Neurofibromatosis?

A

Both autosomal dominant

  • Type I (chromosome 17) is the classical peripheral form
  • Type II (chromosome 22) is central and presents with bilateral acoustic neuromas and sensi‐neural deafness rather than skin lesions
139
Q

Neurofibromatosis associated with?

A

• Phaeochromocytoma (2%)
• Renal artery stenosis (2%)

140
Q

Complications of neurofibromatosis

A

• Epilepsy
• Sarcomatous change (5%)
• Scoliosis (5%)
• Mental retardation (10%)

141
Q

Causes of enlarged nerves and peripheral neuropathy?

A

• Neurofibromatosis
• Leprosy
• Amyloidosis
• Acromegaly
• Refsum’s disease

142
Q

Clinical features of neurofibromatosis?

A

• Cutaneous neurofibromas: two or more
• Café au lait patches: six or more, >15 mm diameter in adults
• Axillary freckling
• Lisch nodules: melanocytic hamartomas of the iris
• Blood pressure: hypertension (associated with renal artery stenosis and phaeochromocytoma)
• Examine the chest: fine crackles (honeycomb lung and fibrosis)
• Neuropathy with enlarged palpable nerves
• Visual acuity: optic glioma/compression

143
Q

Features/ clinical signs of tuberous sclerosis

A

Skin
• Facial (perinasal: butterfly distribution) adenoma sebaceum (angiofibromata)
• Periungual fibromas (hands and feet)
• Shagreen patch: roughened, leathery skin over the lumbar region
• Ash leaf macules: depigmented macules on trunk (fluoresce with UV/Wood’s light)

Lungs
• Cystic lung disease

Abdo
• Renal enlargement caused by polycystic kidneys and/or renal angiomyolipomata
• Transplanted kidney
• Dialysis fistulae

Eyes
• Retinal phakomas (dense white patches) in 50%

CNS
• Mental retardation may occur
• Seizures
• Signs of anti‐epileptic treatment, e.g. phenytoin: gum hypertrophy and hirsuitism

144
Q

Ix in tuberous sclerosis

A

• Skull films: ‘railroad track’ calcification
• CT/MRI head: tuberous masses in cerebral cortex (often calcify)
• Echo and abdominal ultrasound: hamartomas and renal cysts

145
Q

Renal manifestations of tuberous sclerosis

A

• Include renal angiomyolipomas, renal cysts and renal cell carcinoma
• The genes for tuberous sclerosis and ADPKD are contiguous on chromosome 16, hence some mutations lead to both conditions
• Renal failure may result from cystic disease, or parenchymal destruction by massive angiomyolipomas

146
Q

Autosomal dominant condition (TSC1 on chromosome 9, TSC2 on chromosome 16) with variable penetrance

• 80% have epilepsy (majority present in childhood; but adult presentation also seen)
• Cognitive defects in 50%

A

Tuberous sclerosis

Cases For PACES (3 decks)

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