Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

My Cases for PACES > Neurology > Flashcards

Neurology Flashcards

1
Q

Dystrophia myotonica presentation

A

This man complains of worsening weakness in his hands. Please examine him.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Face Clinical signs in Dystrophia myotonica

A
  1. Myopathic facies: long, thin and expressionless
  2. Wasting of facial muscles and sternocleidomastoid
  3. Bilateral ptosis
  4. Frontal balding
  5. Dysarthria: due to myotonia of tongue and pharynx
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Hands Clinical signs in Dystrophia myotonica

A
  1. Myotonia: ‘Grip my hand, now let go’ (may be obscured by profound weakness).
    ‘Screw up your eyes tightly shut, now open them’.
  2. Wasting and weakness of distal muscles with areflexia.
  3. Percussion myotonia: percuss thenar eminence and watch for involuntary thumb flexion.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Additional signs in Dystrophia myotonica

A
  1. Cataracts
  2. Cardiomyopathy, brady‐ and tachy‐arrhythmias (look for pacemaker scar)
  3. Diabetes (ask to dip urine)
  4. Testicular atrophy
  5. Dysphagia (ask about swallowing)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Genetics in Dystrophia myotonica

A
  1. 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
  2. Genetic anticipation: worsening severity of the condition and earlier age of presentation within successive generations.
    -Seen in Trinucleotide repeat expansion diseases:
    ⚬⚬⚬> DM1,
    ⚬⚬⚬> Huntington’s chorea (autosomal dominant),
    ⚬⚬⚬> Friedrich’s ataxia (autosomal recessive),
    ⚬⚬⚬> Fragile X syndrome (X-linked defect)
  3. Both DM1 and 2 are autosomal dominant
  4. DM1 usually presents in 20s–40s (DM2 later), but can be very variable depending on number of triplet repeats.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Diagnosis of Dystrophia myotonica

A
  1. Clinical features
  2. EMG: ‘dive‐bomber’ potentials
  3. Genetic testing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Management of Dystrophia myotonica

A
  1. Affected individuals die prematurely of respiratory and cardiac complications
  2. Weakness is major problem – no treatment
  3. Phenytoin may help myotonia
  4. Advise against general anaesthetic (high risk of respiratory/cardiac complications)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Common causes of ptosis

A

*** Bilateral ============== *** Unilateral
⚬⚬> Myotonic dystrophy =====⚬⚬> Third nerve palsy
⚬⚬> Myasthenia gravis =======⚬⚬> Horner’s syndrome
⚬⚬> Congenital

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Cerebellar syndrome presentation

A

This 37‐year‐old woman has noticed increasing problems with her coordination. Please examine her and suggest a diagnosis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Clinical signs of Cerebellar syndrome

A

1- Brief conversation: Scanning, dysarthria
2. Outstretched arms: Rebound phenomenon
3. Movements:
⚬⚬> Upper limbs: Finger–nose incoordination, Dysdiadochokinesis, Hypotonia, Hyporeflexia
⚬⚬> Eyes: Nystagmus
⚬⚬> Lower limbs: Heel–shin, Foot tapping, Wide‐based gait
4. Direction of nystagmus: clue to the site of the lesion??
5. Cerebellar vermis lesions produce an ataxic trunk and gait but the limbs are normal when tested on the bed
6. Cerebellar lobe lesions produce ipsilateral cerebellar signs in the limbs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Direction of nystagmus: clue to the site of the lesion in Cerebellar syndrome??

A

The direction of the fast phase determines the direction of the nystagmus.

  1. Cerebellar lesion
    The fast-phase direction is TOWARDS the side of the lesion, and is maximal on looking TOWARDS the lesion.
  2. Vestibular nucleus/VIII nerve lesion
    The fast-phase direction is AWAY FROM the side of the lesion, and is maximal on looking AWAY FROM the lesion.
    In case that the fast phase of nystagmus is to the left so it could be due to
  3. a LEFT cerebellar lesion or
  4. a RIGHT vestibular nucleus lesion.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Mnemonic for signs of Cerebellar syndrome

A

DANISH

  1. Dysdiadochokinesis
  2. Ataxia
  3. Nystagmus
  4. Intention tremor
  5. Scanning dysarthria
  6. Hypotonia/hyporeflexia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Mnemonic for causes of Cerebellar syndrome

A

PASTRIES

  1. Paraneoplastic cerebellar syndrome
  2. Alcoholic cerebellar degeneration
  3. Sclerosis (MS)
  4. Tumour (posterior fossa SOL)
  5. Rare (Friedrich’s and ataxia telangiectasia)
  6. Iatrogenic (phenytoin toxicity)
  7. Endocrine (hypothyroidism)
  8. Stroke (brain stem vascular event)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Aetiological clues for the cause of Cerebellar syndrome

A
  1. Internuclear opthalmoplegia, spasticity, female,
    younger age ====> MS
  2. Optic atrophy ====> MS and Friedrich’s ataxia
  3. Clubbing, tar‐stained fingers, radiotherapy burn ====> Bronchial carcinoma
  4. Stigmata of liver disease, unkempt appearance ====> EtOH
  5. Neuropathy ====> EtOH and Friedrich’s ataxia
  6. Gingival hypertrophy ====> Phenytoin
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Multiple sclerosis presentation

A

This 30‐year‐old woman complains of double vision and incoordination with previous episodes of weakness. Please perform a neurological examination.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Clinical signs of Multiple Sclerosis

A
  1. Inspection: ataxic handshake and wheelchair
  2. Cranial nerves: internuclear ophthalmoplegia (frequently bilateral in MS), optic atrophy, reduced visual acuity, and any other cranial nerve palsy
  3. Peripheral nervous system: Upper‐motor neurone spasticity, weakness, brisk reflexes and altered sensation
  4. Cerebellar: ‘DANISH’ (see cerebellar syndrome section)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Medial longitudinal fasciculus (MLF)

A
  • Medial longitudinal fasciculus (MLF):
    is a pair of tracts that allows for crosstalk between CN VI and CN III nuclei.
    Coordinates both eyes to move in same horizontal direction.
    Highly myelinated (must communicate quickly so eyes move at same time).
    Lesions may be unilateral or bilateral (latter classically seen in multiple sclerosis).
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Internuclear ophthalmoplegia

A

Lesion in MLF = internuclear ophthalmoplegia (INO), a conjugate horizontal gaze palsy.
Lack of communication such that when CN VI nucleus activates ipsilateral lateral rectus, contralateral CN III nucleus does not stimulate medial rectus to fire. Abducting eye gets nystagmus (CN VI overfires to stimulate CN III).
Convergence normal.

MLF in MS.
When looking left, the left nucleus of CN VI fires, which contracts the left lateral rectus and stimulates the contralateral (right) nucleus of CN III via the right MLF to contract the right medial rectus.

Directional term (e.g., right INO, left INO) refers to which eye is paralyzed. so the other eye will have nystagmus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Diagnostic criteria of Multiple Sclerosis

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Investigation of Multiple Sclerosis

A

Clinical diagnosis plus

  1. CSF: oligoclonal IgG bands
  2. MRI: periventricular white matter plaques
  3. Visual evoked potentials (VEPs): delayed velocity but normal amplitude (evidence of previous optic neuritis)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Other clinical features of Multiple Sclerosis

A
  1. Higher mental function: depression, occasionally euphoria
  2. Autonomic: urinary retention/incontinence, impotence and bowel problems
    ==> Uthoff’s phenomenon: worsening of symptoms after a hot bath or exercise
    ==> Lhermitte’s sign: lightening pains down the spine on neck flexion due to cervical cord plaques
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Treatment of Multiple Sclerosis

A
  1. Multidisciplinary approach
  2. Disease modifying treatments
  3. Symptomatic treatments
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Multidisciplinary approach in Multiple Sclerosis

A

Nurse, physiotherapist, occupational therapist, social worker and physician.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Disease modifying treatments for Multiple Sclerosis

A
  1. Interferon‐beta and Glatiramer reduce relapse rate but don’t affect progression.
  2. 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.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Symptomatic treatments for Multiple Sclerosis

A
  1. Methyl‐prednisolone during the acute phase may shorten the duration of the ‘attack’ but does not affect the prognosis.
  2. Anti‐spasmodics, e.g. Baclofen.
  3. Carbamazepine (for neuropathic pain).
  4. Laxatives and intermittent catheterization/oxybutynin for bowel and bladder disturbance.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Prognosis of Multiple Sclerosis

A

Variable: The majority will remain ambulant at 10 years.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Multiple Sclerosis and pregnancy

A
  1. Reduced relapse rate during pregnancy
  2. Increased risk of relapse in postpartum period
  3. Safe for foetus (possibly reduced birth weight)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Impairment, disability and handicap in Multiple Sclerosis

A
  1. Arm paralysis is the impairment
  2. Inability to write is the disability
  3. Subsequent inability to work as an accountant is the handicap

Occupational therapy aims to help minimize the disability and abolish the handicap of arm paresis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Stroke

A

Examine this patient’s limbs neurologically and then proceed to examine anything else that you feel is important.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Clinical signs of 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

Offer to
• Walk the patient if they are able to, to demonstrate the flexed posture of the upper
limb and ‘tip toeing’ of the lower limb.
• Test sensation (this is tricky and should be avoided if possible!). Proprioception is
important for rehabilitation.

Other signs
• Upper motor neurone unilateral facial weakness (spares frontalis due to its dual
innervation).
• Gag reflex and swallow to minimize aspiration.
• Visual fields and higher cortical functions, e.g. neglect helps determine a Bamford
classification.
• Signs of the Cause: irregular pulse (AF), blood pressure, cardiac murmurs or carotid bruits (anterior
circulation stroke).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Medical Research Counsil (MRC) graded muscle strength:

A 
0, none
1, flicker
2, moves with gravity neutralized
3, moves against gravity
4, reduced power against resistance
5, normal
Extensors are usually weaker than flexors in the upper limbs and vice versa in the lower limbs.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Definitions of Stroke

A

• Stroke: rapid onset, focal neurological deficit due to a vascular lesion lasting > 24 hours.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Definition of Transient ischaemic attack (TIA):

A

• TIA: focal neurological deficit lasting < 24 hours.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Investigation of Stroke

A
  1. Bloods: FBC, CRP/ESR (young CVA may be due to arteritis), glucose and renal function
  2. ECG: AF or previous infarction
  3. CXR: cardiomegaly or aspiration
  4. CT head: infarct or bleed, territory
  5. Consider echocardiogram, carotid Doppler, MRI/A/V (dissection or venous sinus thrombosis in young patient), clotting screen (thrombophilia), vasulitis screen in young CVA
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Acute Management of Stroke

A
  1. Thrombolysis with tPA (within 4.5 hours of acute ischaemic stroke)
  2. Clopidogrel (or aspirin + dipyridamole)
  3. Referral to a specialist stroke unit: multidisciplinary approach: physiotherapy, occupational therapy, speech and language therapy and specialist stroke rehabilitation nurses
  4. DVT prophylaxis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Chronic Management of Stroke

A
  1. Carotid endarterectomy in patients who have made a good recovery, e.g. in PACS (if >70% stenosis of the ipsilateral internal carotid artery)
  2. Anticoagulation for cardiac thromboembolism
  3. Address cardiovascular risk factors
  4. Nursing +/− social care.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Bamford classification of stroke (Lancet 1991)

A
  1. Total anterior circulation stroke (TACS)
    • Hemiplegia (contra‐lateral to the lesion)
    • Homonomous hemianopia (contra‐lateral to the lesion)
    • Higher cortical dysfunction, e.g. dysphasia, dyspraxia and neglect
  2. Partial anterior circulation (PACS)
    • 2/3 of the above
  3. Lacunar (LACS)
    • Pure hemi‐motor or sensory loss
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Prognosis at 1 year (%) for TACS

A

Dead 60%
Dependent 35%
Independent 5%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Prognosis at 1 year (%) for PACS

A

Dead 15%
Dependent 30%
Independent 55%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Prognosis at 1 year (%) for LACS

A

Dead 10%
Dependent 30%
Independent 60%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Dominant parietal‐lobe cortical signs (Stroke)

A
  1. Dysphasia: receptive, expressive or global
  2. Gerstmann’s syndrome
    ⚬⚬ Dysgraphia, dyslexia and dyscalculia
    ⚬⚬ L‐R disorientation
    ⚬⚬ Finger agnosia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Non‐dominant parietal‐lobe signs (Stroke)

A
  1. Dressing and constructional apraxia

2. Spatial neglect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Either parietal‐lobe signs

A
  1. Sensory and visual inattention
  2. Astereognosis
  3. Graphaesthesia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

The lesion == What is the Visual field defects?

  1. Optic Nerve
  2. Optic Chiasm
  3. Optic Tract
  4. Optic Radiation (Temporal lobe)
  5. Optic Radiation (Parietal lobe)
A

Visual field defects

  1. Unilateral field defect
  2. Bitemporal Hemianopia
  3. Homonymous Hemianopia
  4. Superior Homonymous Quadrantinopia
  5. Inferior Homonymous Quadrantinopia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Lateral medullary (Wallenberg) syndrome

A
  • Most common brainstem vascular syndrome
  • Due to occlusion of posterior inferior cerebellar artery (PICA)
  • Often variable in its presentation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q 
Brainstem structures affected by right‐sided lesion of 
Lateral medullary (Wallenberg) syndrome
A
  1. Vestibular Nucleus
  2. Inferior Cerebellar Peduncle
  3. Descending Sympathetic Tract
  4. CN 5 Descending Spinal Tract
  5. CN 5 Spinal Nucleus
  6. Spinothalamic Tract
  7. Nucleus Tractus Solitarius (CN 7, 9, 10)
  8. Nucleus Ambiguus (CN 9, 10)==> Specific to PICA
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Clinical consequences of Lateral medullary (Wallenberg) syndrome (PICA)

Ipsilateral to lesion (e.g. on right with right‐sided infarction)

A
  1. Cerebellar signs => Inferior cerebellar peduncle
  2. Nystagmus (Present with vertigo and vomiting) => Vestibular nucleus
  3. Horner syndrome => Descending sympathetic tract
  4. Palatal paralysis and decreased gag reflex => Nucleus ambiguus (CN IX and X)
  5. Loss of trigeminal pain and temperature sensation => Trigeminal nerve (CN V) spinal nucleus and tract
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Clinical consequences of Lateral medullary (Wallenberg) syndrome (PICA)

Contralateral to lesion (e.g. on left with right‐sided lesion)

A

Loss of pain and temperature sensation => Spinothalamic tract

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Spastic legs ==> presentation

A

Examine this man’s lower limbs neurologically. He has had difficulty in walking.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Clinical signs in Spastic legs

A
  1. Wheelchair and walking sticks (disuse atrophy and contractures may be present if chronic)
  2. Increased tone and ankle clonus
  3. Generalized weakness
  4. Hyper‐reflexia and extensor plantars
  5. Gait: ‘scissoring’
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Additional signs in Spastic legs

A
  1. Examine for a sensory level suggestive of a spinal lesion
  2. Look at the back for scars or spinal deformity
  3. Search for features of multiple sclerosis, e.g. cerebellar signs, fundoscopy for optic atrophy
  4. Ask about bladder symptoms and note the presence or absence of urinary catheter.
  5. Offer to test anal tone
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Common causes of Spastic legs

A
  1. Multiple sclerosis
  2. Spinal cord compression/cervical myelopathy
  3. Trauma
  4. Motor neurone disease (no sensory signs)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Other causes of Spastic legs

A
  1. Anterior spinal artery thrombosis: dissociated sensory loss with preservation of dorsal columns
  2. Syringomyelia: with typical upper limb signs
  3. Hereditary spastic paraplegia: stiffness exceeds weakness, positive family history
  4. Subacute combined degeneration of the cord: absent reflexes with upgoing plantars
  5. Friedreich’s ataxia
  6. Parasagittal falx meningioma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Cord compression

A

• Medical emergency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

• Causes of Cord compression

A
  1. Disc prolapse (above L1/2)
  2. Malignancy
  3. Infection: abscess or TB
  4. Trauma: # vertebra
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

• Investigation of choice for cord compression

A

spinal MRI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

• Treatment of cord compression

A
  1. Urgent surgical decompression

2. Consider steroids and radiotherapy (for a malignant cause)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Lumbo‐sacral root levels

A
  • L 2/3 Hip flexion
  • L 3/4 Knee extension => Knee jerk L 3/4
  • L 4/5 Foot dorsi‐flexion
  • L 5/S 1 Knee flexion & Hip extension
  • S 1/2 Foot plantar‐flexion => Ankle jerk S 1/2
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Lower limb dermatomes

A

Hints:
L3 (knee)
L4 (to the oor medially)
S2, 3, 4 (keeps the faeces off the floor!)

61
Q

Motor neurone disease presentation

A

This man complains of gradually increasing weakness. Please examine him neurologically.

62
Q

Clinical signs of Motor neurone disease

A
  1. Inspection: wasting and fasciculation
  2. Tone: usually spastic but can be flaccid
  3. Power: weak
  4. Reflexes: absent and/or brisk. (Absent knee jerk with extensor plantar reflexes.)
  5. Sensory examination is normal
  6. Speech: dysarthria may be bulbar (nasal, ‘Donald Duck’ speech, due to palatal weakness) or pseudo bulbar (‘hot potato’ speech, due to a spastic tongue).
  7. Tongue: wasting and fasciculation (bulbar) or a stiff spastic tongue with brisk jaw jerk (pseudo‐bulbar).
  8. There is no sensory, extra‐ocular muscle, cerebellar or extra‐pyramidal involvement. Sphincter and cognitive disturbance occasionally seen.
63
Q

Discussion of MND

A
  1. MND is a progressive disease of unknown aetiology

2. There is axonal degeneration of upper and lower motor neurones

64
Q

Motor neurone disease may be classified into three types, although there is often some overlap:

A
  1. Amyotrophic lateral sclerosis (50%): affecting the cortico‐spinal tracts predominantly producing spastic paraparesis or tetraparesis.
  2. Progressive muscular atrophy (25%): affecting anterior horn cells predominantly producing wasting, fasciculation and weakness. Best prognosis.
  3. Progressive bulbar palsy (25%): affecting lower cranial nerves and suprabulbar nuclei producing speech and swallow problems. Worst prognosis.
65
Q

Investigation in MND

A
  1. Clinical diagnosis
  2. EMG: fasciculation
  3. MRI (brain and spine): excludes the main differential diagnoses of cervical cord compression and myelopathy and brain stem lesions
66
Q

Treatment of MND

A
  1. Supportive, e.g. PEG feeding and NIPPV
  2. Multidisciplinary approach to care
  3. Riluzole (glutamate antagonist): slows disease progression by an average of 3 months but does not improve function or quality of life and is costly
67
Q

Prognosis of MND

A
  1. Most die within 3 years of diagnosis from bronchopneumonia and respiratory failure. Some disease variants may survive longer.
  2. Worst if elderly at onset, female and with bulbar involvement.
68
Q

Causes of generalized wasting of hand muscles

A

A. Anterior horn cell

  1. MND
  2. Syringomyelia
  3. Cervical cord compression
  4. Polio

B.Brachial plexus

  1. Cervical rib
  2. Pancoast’s tumour
  3. Trauma

C. Peripheral nerve

  1. Combined median and ulnar nerve lesions
  2. Peripheral neuropathy

D. Muscle
1. Disuse atrophy, e.g. rheumatoid arthritis

69
Q

Fasciculation

A
  • Visible muscle twitching at rest
  • Cause: axonal loss results in the surviving axons recruiting and innervating more myofibrils than usual resulting in large motor units
  • Seen commonly in MND and syringomyelia
70
Q

Parkinson’s disease

A

This man complains of a persistent tremor. Examine him neurologically.

71
Q

Clinical signs 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.

72
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’)

73
Q

Pathology

A

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

74
Q

Treatment

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

75
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

76
Q

Hereditary sensory motor neuropathy (HSMN)

A

This man complains of progressive weakness and a change in the appearance of his legs.
Please examine him neurologically.

77
Q

Clinical signs of (HSMN)

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
78
Q

Discussion of HSMN

A
  • The commonest HSMN types are I (demyelinating) and II (axonal).
  • Autosomal dominant inheritance (test for PMP22 mutations in HSMN I).
  • HSMN is also known as Charcot–Marie–Tooth disease and peroneal muscular atrophy.
79
Q

Other causes of peripheral neuropathy

Predominantly sensory

A
  1. Diabetes mellitus
  2. Alcohol
  3. Drugs, e.g. isoniazid and vincristine
  4. Vitamin deficiency, e.g. B12 and B1
80
Q

Other causes of peripheral neuropathy

Predominantly motor

A
  1. Guillain–Barré and botulism present acutely
  2. Lead toxicity
  3. Porphyria
  4. HSMN
81
Q

Other causes of peripheral neuropathy

Mononeuritis multiplex

A
  1. Diabetes mellitus
  2. Connective tissue disease, e.g. SLE and rheumatoid arthritis
  3. Vasculitis, e.g. polyarteritis nodosa and Churg –Strauss
  4. Infection, e.g. HIV
  5. Malignancy
82
Q

Friedreich’s ataxia

A

Examine this young man’s neurological system.

83
Q

Clinical signs of Friedreich’s ataxia

A
  1. Young adult, wheelchair (or ataxic gait)
  2. Pes cavus
  3. Bilateral cerebellar ataxia (ataxic hand shake + other arm signs, dysarthria, nystagmus)
  4. Leg wasting with absent reflexes and bilateral upgoing plantars
  5. Posterior column signs (loss of vibration and joint position sense)
84
Q

Other signs of Friedreich’s ataxia

A
  1. Kyphoscoliosis
  2. Optic atrophy (30%)
  3. High‐arched palate
  4. Sensorineural deafness (10%)
  5. Listen for murmur of HOCM
  6. Ask to dip urine (10% develop diabetes)
85
Q

Discussion of Friedreich’s ataxia

A
  1. Inheritance is usually autosomal recessive
  2. Onset is during teenage years
  3. Survival rarely exceeds 20 years from diagnosis
  4. There is an association with HOCM and a mild dementia
86
Q

Causes of extensor plantars with absent knee jerks

A
  1. Friedreich’s ataxia
  2. Subacute combined degeneration of the cord
  3. Motor neurone disease
  4. Taboparesis
  5. Conus medullaris lesions
  6. Combined upper and lower pathology, e.g. cervical spondylosis with peripheral neuropathy
87
Q

Facial nerve palsy

A

Examine this patient’s cranial nerves. What is wrong?

88
Q

Clinical signs of Facial nerve palsy

A
  1. Unilateral facial droop, absent nasolabial fold and forehead creases
  2. Inability to raise the eyebrows (frontalis), screw the eyes up (orbicularis oculi) or smile (orbicularis oris) Bell’s phenomenon: eyeball rolls upwards on attempted eye closure.
89
Q

Commonest cause of Facial nerve palsy

A

Bell’s palsy

  1. Rapid onset (1–2 days)
  2. HSV‐1 has been implicated
  3. Induced swelling and compression of the nerve within the facial canal causes demyelination and temporary conduction block
90
Q

Treatment of Bell’s palsy

A
  1. prednisolone commenced within 72 hours of onset improves outcomes, plus aciclovir if severe
  2. Remember eye protection (artificial tears, tape eye closed at night)
91
Q

Prognosis of Bell’s palsy

A

70–80% make a full recovery; substantial minority have persistent facial weakness

92
Q

Pregnancy and Bell’s palsy

A

Bell’s palsy is more common in pregnancy, and outcome may be worse

93
Q

Other causes of a VII nerve palsy

A
  1. Herpes zoster (Ramsay–Hunt syndrome)
  2. Mononeuropathy due to diabetes, sarcoidosis or Lyme disease
  3. Tumour/trauma
  4. MS/stroke
94
Q

Causes of bilateral facial palsy

A
  1. Guillain–Barré
  2. Myasthenia gravis
  3. Sarcoidosis
  4. Bilateral Bell’s palsy
  5. Lyme disease
95
Q

Myasthenia gravis presentation

A

Examine this patient’s cranial nerves. She has been suffering with double vision.

96
Q

Clinical signs of Myasthenia gravis

A
  1. Bilateral ptosis (worse on sustained upward gaze)
  2. Complicated bilateral extra‐ocular muscle palsies
  3. Myasthenic snarl (on attempting to smile)
  4. Nasal speech, palatal weakness and poor swallow (bulbar involvement)
  5. Demonstrate proximal muscle weakness in the upper limbs and fatiguability. The reflexes are normal
  6. Look for sternotomy scars (thymectomy)
  7. State that you would like to assess respiratory muscle function (FVC)
97
Q

Associations of Myasthenia gravis

A

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

98
Q

Cause of Myasthenia gravis

A

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

99
Q

Investigations of Myasthenia gravis

A

Diagnostic tests:

  1. Anti‐AChR antibodies positive in 90% of cases
  2. Anti‐MuSK (muscle‐specific kinase) antibodies often positive if anti‐AChR negative
  3. EMG: decremented response to a titanic train of impulses
  4. 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.

Other tests

  1. CT or MRI of the mediastinum (thymoma in 10%)
  2. TFTs (Grave’s present in 5%)
100
Q

Treatments of Myasthenia gravis

A

Acute
• IV immunoglobulin or plasmapheresis (if severe)

Chronic

  1. Acetylcholine esterase inhibitor, e.g. pyridostigmine
  2. Immunosuppression: steroids and azathioprine
  3. Thymectomy is beneficial even if the patient does not have a thymoma (usually young females)
101
Q

Lambert–Eaton myasthenic syndrome (LEMS)

A
  1. Diminished reflexes that become brisker after exercise
  2. Lower limb girdle weakness (unlike myasthenia gravis)
  3. Associated with malignancy, e.g. small‐cell lung cancer
  4. Antibodies block pre‐synaptic calcium channels
  5. EMG shows a ‘second wind’ phenomenon on repetitive stimulation
102
Q

Causes of bilateral extra‐ocular palsies

A
  1. Myasthenia gravis
  2. Graves’ disease
  3. Mitochondrial cytopathies, e.g. Kearns–Sayre syndrome
  4. Miller–Fisher variant of Guillain–Barré syndrome
  5. Cavernous sinus pathology
103
Q

Causes of bilateral ptosis

A
  1. Congenital
  2. Senile
  3. Myasthenia gravis
  4. Myotonic dystrophy
  5. Mitochondrial cytopathies, e.g. Kearns–Sayre syndrome
  6. Bilateral Horner’s syndrome
104
Q

Tuberous sclerosis

A

This patient has had a first seizure recently. Please examine them as you wish. What is the diagnosis?

105
Q

Clinical signs of Tuberous sclerosis

A

Skin changes
1. Facial (perinasal: butterfly distribution) adenoma sebaceum (angiofibromata)
2. Periungual fibromas (hands and feet)
3. Shagreen patch: roughened, leathery skin over the lumbar region
4. Ash leaf macules: depigmented macules on trunk (fluoresce with UV/Wood’s light)
Respiratory
1. Cystic lung disease
Abdominal
1. Renal enlargement caused by polycystic kidneys and/or renal angiomyolipomata
2. Transplanted kidney
3. Dialysis fistulae
Eyes
1. Retinal phakomas (dense white patches) in 50%
CNS
1. Mental retardation may occur
2. Seizures
3. Signs of anti‐epileptic treatment, e.g. phenytoin: gum hypertrophy and hirsuitism

106
Q

Discussion of Tuberous sclerosis

A
  • Autosomal dominant (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%
107
Q

Renal manifestations in Tuberous sclerosis

A

• Include

  1. Renal angiomyolipomas, renal cysts and renal cell carcinoma
  2. The genes for tuberous sclerosis and ADPKD are contiguous on chromosome 16, hence some mutations lead to both conditions
  3. Renal failure may result from cystic disease, or parenchymal destruction by massive angiomyolipomas
108
Q

Investigation for Tuberous sclerosis

A
  1. Skull films: ‘railroad track’ calcification
  2. CT/MRI head: tuberous masses in cerebral cortex (often calcify)
  3. Echo and abdominal ultrasound: hamartomas and renal cysts
109
Q

Mnemonic in Tuberous sclerosis

A

Previously known as EPILOIA (EPIlepsy, LOw Intelligence, Adenoma sebaceum)

110
Q

Tuberous sclerosis

Mnemonic 1st Aid

A 
HAMARTOMAS: 
Hamartomas in CNS and skin; 
Angiofibromas ; 
Mitral regurgitation; 
Ash-leaf spots; 
cardiac Rhabdomyoma; 
(Tuberous sclerosis); 
autosomal dOminant; 
Mental retardation (intellectual disability); 
renal Angiomyolipoma; 
Seizures, 
Shagreen patches. 

incidence of subependymal astrocytomas and ungual fibromas.

111
Q

Neurofibromatosis presentation

A

Examine this patient’s skin.

112
Q

Clinical signs of Neurofibromatosis

A
  1. Cutaneous neurofibromas: two or more
  2. Café au lait patches: six or more, >15 mm diameter in adults
  3. Axillary freckling
  4. Lisch nodules: melanocytic hamartomas of the iris
  5. Blood pressure: hypertension (associated with renal artery stenosis and phaeochromocytoma)
  6. Examine the chest: fine crackles (honeycomb lung and fibrosis)
  7. Neuropathy with enlarged palpable nerves
  8. Visual acuity: optic glioma/compression
113
Q

Discussion of Neurofibromatosis

Inheritance

A
  • Inheritance is 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
114
Q

Associations of Neurofibromatosis

A
  1. Phaeochromocytoma (2%)

2. Renal artery stenosis (2%)

115
Q

Complications of Neurofibromatosis

A
  1. Epilepsy
  2. Sarcomatous change (5%)
  3. Scoliosis (5%)
  4. Mental retardation (10%)
116
Q

Causes of enlarged nerves and peripheral neuropathy

A
  1. Neurofibromatosis
  2. Leprosy
  3. Amyloidosis
  4. Acromegaly
  5. Refsum’s disease
117
Q

Abnormal pupils

A 
Examine this patient’s eyes.
Horner’s pupil
Holmes–Adie (myotonic) pupil
Argyll Robertson pupil
Oculomotor (III) nerve palsy
118
Q

Clinical signs of Horner’s pupil

A

‘PEAS’

  1. Ptosis (levator palpebrae is partially supplied by sympathetic fibres)
  2. Enophthalmos (sunken eye)
  3. Anhydrosis (sympathetic fibres control sweating)
  4. Small pupil (miosis)

May also have flushed/warm skin ipsilaterally to the Horner’s pupil due to loss of vasomotor sympathetic tone to the face.

Extra points
• Look at the ipsilateral side of the neck for
1. Scars (trauma, e.g. central lines, carotid endarterectomy surgery or aneurysms) and
2. Tumours (Pancoast’s).

119
Q

Cause according to the sympathetic tract’s anatomical course:

A

Brain stem&raquo_space;> MS & Stroke (Wallenberg’s)
Spinal cord&raquo_space;> Syrinx
Neck&raquo_space;> Aneurysm & Trauma Pancoast’s

120
Q

Clinical signs of Holmes–Adie (myotonic) pupil

A

Moderately dilated pupil that has a poor response to light and a sluggish response to accommodation (you may have to wait!)

Extra points
• Absent or diminished ankle and knee jerks

121
Q

Discussion of Holmes–Adie (myotonic) pupil

A

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

122
Q

Clinical signs of Argyll Robertson pupil

A

Small irregular pupil
Accommodates but doesn’t react to light
Atrophied and depigmented iris

Extra points
• Offer to look for sensory ataxia (tabes dorsalis)

123
Q

Discussion of Argyll Robertson pupil

A
  1. Usually a manifestation of quaternary syphilis, but it may also be caused by diabetes mellitus
  2. Test for quaternary syphilis using TPHA or FTA, which remain positive for the duration of the illness
  3. Treat with penicillin
124
Q

Clinical signs of Oculomotor (III) nerve palsy

A

Ptosis usually complete
Dilated pupil
The eye points ‘down and out’ due to the unopposed action of lateral III nerve palsy rectus (VI) and superior oblique (IV)

Test for the trochlear (IV) nerve
On looking nasally the eye will intort (rotate towards the nose) indicating that the trochlear nerve is working

Extra points
• If the pupil is normal consider medical causes of III palsy
• Surgical causes often impinge on the superficially located papillary fibres running in the III nerve

125
Q

Medical Causes of Oculomotor (III) nerve palsy

A
  1. Mononeuritis multiplex, e.g. DM
  2. Midbrain infarction: Weber’s
  3. Midbrain demyelination (MS)
  4. Migraine
126
Q

Surgical Causes of Oculomotor (III) nerve palsy

A
  1. Communicating artery aneurysm (posterior)
  2. Cavernous sinus pathology: thrombosis, tumour or fistula (IV, V and VI may also be affected)
  3. Cerebral uncus herniation
127
Q

Optic atrophy

A

Examine this woman’s eyes.

128
Q

Clinical signs of Optic atrophy

A

• Relative afferent pupillary defect (RAPD): dilatation of the pupil on moving the light source from the normal eye (consensual reflex) to the abnormal eye (direct reflex):
Swinging light test&raquo_space;> Marcus- Gunn pupil
• Fundoscopy: disc pallor

Extra points
Look for the cause.

129
Q

Causes of Optic Atrophy

On examining the fundus

A
  1. Glaucoma (cupping of the disc)
  2. Retinitis pigmentosa
  3. Central retinal artery occlusion
  4. 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)
130
Q

Causes of Optic Atrophy

At a glance from the end of the bed

A
  1. Cerebellar signs, e.g. nystagmus:
    »> multiple sclerosis (internuclear ophthalmoplegia),
    »> Friedreich’s ataxia (scoliosis and pes cavus)
  2. Large bossed skull: Paget’s disease (hearing aid)
  3. Argyll–Robertson pupil: Tertiary syphilis
131
Q

Causes of Optic Atrophy

A

PALE DISCS

  1. Pressure*: tumour, glaucoma and Paget’s
  2. Ataxia: Friedreich’s ataxia
  3. LEber’s optic atrophy
  4. Dietary: ↓B12,
  5. Degenerative: retinitis pigmentosa
  6. Ischaemia: central retinal artery occlusion
  7. Syphilis and other infections, e.g. CMV and toxoplasmosis
  8. Cyanide and other toxins, e.g. alcohol, lead and tobacco
  9. Sclerosis*: MS

(* denotes commonest cause)

132
Q

Age‐related macular degeneration (AMD)

A

Examine this elderly patient’s fundi. She complains of recent loss of vision.

133
Q

Clinical signs of Age‐related macular degeneration

A

a. Wet (neovascular and exudative) or dry (non neovascular, atrophic and non‐exudative)
b. Macular changes:
1. Drusen (extracellular material)
2. Geographic atrophy
3. Fibrosis
4. Neovascularization (wet)

134
Q

Risk factors of Age‐related macular degeneration

A
  1. Age,
  2. white race,
  3. family history and
  4. smoking

• Wet AMD have a higher incidence of coronary heart disease and stroke

135
Q

Treatment of Age‐related macular degeneration

A
  1. Ophthalmology referral
  2. Wet AMD may be treated by intravitreal injections of anti‐VEGF (though can increase cerebrovascular and cardiovascular risk)
136
Q

Prognosis of Age‐related macular degeneration

A

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

137
Q

Retinitis pigmentosa

A

This man has been complaining of difficulty seeing at night. Please examine his eyes.

138
Q

Clinical signs of Retinitis pigmentosa

A
  1. White stick and braille book (registered blind)
  2. Reduced peripheral field of vision (tunnel vision)
  3. Fundoscopy
    a. Peripheral retina ‘bone spicule pigmentation’, which follows the veins and spares the macula.
    b. Optic atrophy due to neuronal loss (consecutive).

Association: cataract (absent red reflex).

139
Q

‘At a glance’ findings can help make the diagnosis of Retinitis Pigmentosa

A
  1. Ataxic: Friedreich’s ataxia, abetalipoproteinaemia, Refsum’s disease, Kearns–Sayre syndrome
  2. Deafness (hearing‐aid/white stick with red stripes): Refsum’s disease, Kearns– Sayre syndrome, Usher’s disease
  3. Ophthalmoplegia/ptosis and permanent pacemaker: Kearns–Sayre syndrome
  4. Polydactyly: Laurence–Moon–Biedl syndrome
  5. Icthyosis: Refsum’s disease
140
Q

Discussion in Retinitis Pigmentosa

A

> > Inherited form of retinal degeneration characterized by loss of photo receptors

141
Q

Causes of Retinitis Pigmentosa

A

a. Congenital: often autosomal recessive inheritance, 15% due to rhodopsin pigment mutations
b. Acquired: post‐inflammatory retinitis

142
Q

Prognosis of Retinitis Pigmentosa

A
  1. 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
  2. No treatment although vitamin A may slow disease progression
143
Q

Causes of tunnel vision

A
  1. Papilloedema
  2. Glaucoma
  3. Choroidoretinitis
  4. Migraine
  5. Hysteria
144
Q

Retinal artery occlusion

A

Examine this man’s fundi.

145
Q

Clinical signs of Retinal artery occlusion

A
  1. Pale, milky fundus with thread‐like arterioles
  2. ± Cherry red macula (choroidal blood supply)
  3. Cause: AF (irregular pulse) or carotid stenosis (bruit)
  4. 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

146
Q

Causes of Retinal artery occlusion

A
  1. Embolic: carotid plaque rupture or cardiac mural thrombus
    » Treatment: aspirin, anti‐coagulation and endarterectomy
  2. Giant cell arteritis: tender scalp and pulseless temporal arteries
    » Treatment: high‐dose steroid urgently, check ESR and arrange temporal artery biopsy to confirm diagnosis
147
Q

Retinal vein occlusion

A

Examine this patient’s fundi.

148
Q

Clinical signs of Retinal vein occlusion

A
  1. Flame haemorrhages +++ radiating out from a swollen disc
  2. Engorged tortuous veins
  3. Cotton wool spots
  4. Cause: look for diabetic or hypertensive changes (visible in branch retinal vein occlusion).
  5. Effect: Rubeosis iridis causes secondary glaucoma (in central retinal vein occlusion), visual loss or field defect.
149
Q

Causes of Retinal vein occlusion

A
  1. Hypertension
  2. Hyperglycaemia: diabetes mellitus
  3. Hyperviscocity: Waldenström’s macroglobulinaemia or myeloma
  4. High intraocular pressure: glaucoma

My Cases for PACES (50 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions