Neurology Flashcards
1
Q
Stroke
A
acute neurological condition resulting from a disruption in cerebral perfusion either due to ischaemia (ischaemic stroke) or haemorrhage (haemorrhage stroke)
characterised by acute onset focal neurological deficits the pattern being dictated by the affected vessel and last >24h
4th most common single cause of death in UK
2
Q
Transient ischaemic attack (TIA)
A
acute onset focal neurological deficits which resolve within 24h
3
Q
Middle cerebral artery (MCA) stroke symptoms
A
Most commonly affected vessel
-contralateral weakness/hemiparesis and sensory loss
(more marked in upper limbs & lower half of face than in lower limbs)
-contralateral homonymous hemianopia
-gaze deviation (if superior MCA division)
-Aphasia
Broca’s/expressive (if superior MCA branch)
Wernicke’s/receptive (if inferior MCA branch)
conductive aphasia (if inferior MCA branch)
-Hemineglect, usually contralateral (if non dominant hemisphere)
4
Q
Anterior cerebral artery (ACA) stroke symptoms
A
-contralateral hemiparesis/weakness & sensory loss (more pronounced in lower limbs than upper limbs)
-dysarthria
-limb apraxia (inability to perform precise, voluntary movements)
-frontal release sign
urinary incontinence
5
Q
Posterior cerebral artery (PCA) stroke symptoms
A
- contralateral homonymous hemianopia with macular sparing
- contralateral sensory loss especially light touch/pinprick/proprioception
- memory deficits
- if dominant (left hemisphere): visual agnosia, expressive aphasia
- if non dominant (right hemisphere): prosopagnosia (inability to recognise faces)
6
Q
Posterior inferior cerebellar artery (PICA) stroke symptoms
A
lateral medullary syndrome (Wallenberg syndorme)
ipsilateral nystagmus, vertigo, limb ataxia, Horner syndrome, ↓pain & temp sensation to face, bulbar palsy (dysphagia/dysphonia)
7
Q
Anterior inferior cerebellar artery (AICA) stroke symptoms
A
lateral pontine syndrome
contralateral loss of pain & temp sensation
ipsilateral limb & gait ataxia, loss of facial pain & temp sensation, facial muscle weakness, ↓lacrimation, vertigo, nystagmus, hearing loss, Horner syndrome
8
Q
Basilar artery stroke
A
locked in syndrome
9
Q
Weber’s syndrome
A
stroke in branches of PCA supplying midbrain
Ipsilateral CNIII palsy
contralateral weakness of upper & lower extremities
10
Q
Lenticulostriate arteries (Deep MCA branches) stroke symptoms
A
No cortical signs (e.g. neglect/visual loss/aphasia)
presents as isolated hemiparesis, hemisensory loss, limb ataxia
11
Q
Oxford stroke classification (Bamford classification)
A
asses the following features:
- unilateral hemiparesis and/or hemisensory loss of face, arm, leg
- homonymous hemianopia
- higher cognitive dysfunction e.g. aphasia
12
Q
Total anterior circulation infarct (Bamford classification)
A
~15% of strokes
involves MCA & ACA
Presents with
- unilateral hemiparesis and/or hemisensory loss of face, arm, leg
- homonymous hemianopia
- higher cognitive dysfunction e.g. aphasia
13
Q
Partial anterior circulation infarct (Bamford classification)
A
~25% of strokes
involves smaller arteries of anterior circulation
presents with 2 of
- unilateral hemiparesis and/or hemisensory loss of face, arm, leg
- homonymous hemianopia
- higher cognitive dysfunction e.g. aphasia
14
Q
Lacunar infarcts (Bamford classification)
A
~25% of strokes
involves perforating arteries around basal ganglia/thalamus/internal capsule
Presents with 1 of
- unilateral weakness and/or sensory deficit of face/arms/legs
- pure sensory stroke
- ataxic hemiparesis
15
Q
Posterior circulation infarcts (Bamford classification)
A
~25%
involves vertebrobasilar arteries
Presents with 1 of
- cerebellar/brainstem syndromes
- LOC
- isolated homonymous hemianopia
16
Q
Assessment & investigations of stroke
A
FAST assessment
ROSIER score
non-contrast CT head (GOLD standard)*
serum glucose* (to exclude hypoglycaemia)
FBCs/U&Es/LFTs/Coag
ECG (check for AF)
Consider MRI & carotid artery doppler
17
Q
Differential diagnosis for stroke
A
Hypoglycaemia (must be excluded) Seizure disorders complicated migraines subdural haematoma hypertensive encephalopathy brain tumour
18
Q
Ischaemic stroke
A
A stroke due to vascular occlusion/stenosis causing ischaemia, leading to cerebral infarction due to insufficient cerebral blood flow
~85% of all strokes
19
Q
Subtypes of ischaemic strokes
A
Thrombotic e..g thrombus in large vessel such as the carotids
Embolic e.g. embolus from heart in AF
global cerebral ischaemia e.g. in cardiac arrest
20
Q
Risk factors for ischaemic stroke
A
AF ↑ age FH of stroke previous ischaemic stroke HTN smoking hyperlipidaemia previous TIA peripheral arterial disease carotid artery stenosis diabetes
21
Q
Presentation of ischaemic stroke
A
sudden onset of focal neurological deficits depending on which vessel is involved
impaired consciousness (but LOC is uncommon in stroke)
nausea
vomiting
headache
22
Q
Ischaemic stroke on CT
A
hyperdense occluded vessel
hypo attenuated brain parenchyma (dark)
23
Q
Management of ischaemic stroke
A
Reperfusion therapy:
IV thromobolysis e.g. alteplase/tenecteplase
give within ≤4.5h of symptom onset
NB a hemorrhagic stroke must be excluded
–
Thrombectomy
offer in addition to IV thrombolysis if within 6h
offer within 24h if confirmed anterior circulation stroke
BP control
Aspirin 300mg
rehab PT/OT/SALT
24
Q
Long term secondary prophylaxis in ischaemic stroke
A
1st line: 75mg clopidogrel
2nd line: 75mg aspirin + MR dipyridamole
25
Contraindications for thrombolysis
```
Previous intracranial haemorrhage
Intracranial neoplasm
Active bleeding
Pregnancy
Uncontrolled hypertension
```
26
Haemorrhagic stroke
A stroke due to the rupture of a blood vessel leading to intracerebral (intraparenchymal) / subarachnoid / intraventricular haemorrhage
~15% of all strokes
27
Risk factors for hemorrhagic stroke
```
↑age
HTN
arteriovenous malformation (AVM)
anticoagulation therapy
male gender
heavy alcohol use
family history of intracerebral haemorrhage
haemophilia & other clotting disorders
asian ethnicity
```
28
Presentation of hemorrhagic stroke
generally gradually progressive worsening of focal neurological deficits
later on:
↑ ICP (nausea & vomiting, LOC, confusion, fixed dilated pupils)
29
Hemorrhagic stroke on CT
hyperlattenuation (bright) new blood with surrounding hypo attenuated (dark) oedema
30
Management of haemorrhagic stroke
reverse anticoagulation / stop anticoagulants
Consider surgical intervention
rehab PT/OT/SALT
31
Transient ischaemic attack (TIA)
temporary focal ischaemia that results in reversible neurological deficits without acute infarction (Tissue based definition, not time based)
most pts have complete reversal if symptoms within 1h
↑ risk of stroke after TIA
32
Investigations for Transient ischaemic attack (TIA)
FBCs/U&Es/FLTs/blood glucose/coag
MRI(1st line imaging)
NB CT is no longer recommended 1st line
33
Management of Transient ischaemic attack (TIA)
If TIA in the last 7 days then TIA clinic within 24h
If TIA >7days ago then TIA clinic within 7 days
NB pt should not drive until seen by TIA clinic
300mg aspirin immediately
then 75 mg clopidogrel daily lifelong
if pt has a bleeding disorder/ taking anticoagulant = needs immediate admission for imaging to exclude a haemorrhage
34
Primary prevention of strokes
lifestyle advice (diet/smoking/exercise/alcohol)
statin therapy
treat HTN
treat AF (asses with CHADS-VASC score fro stroke risk & HAS-BLED score to asses risk of bleeding)
35
Secondary prevention of strokes
300mg aspirin daily for 2 weeks once haemorrhage excluded
then 75 mg clopidogrel daily lifelong (75mg aspirin + MR dipyridamole if clopidogrel not tolerated)
statins
carotid endarterectomy/carotid artery stenting if stenosis >70%
36
Epilepsy/seizure disorders
A seizure is defined as a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain
epilepsy is defined as a chronic neurological condition characterised by any of the following
- ≥2 unprovoked seizures (reflex seizures) occurring >24h apart
- 1 unprovoked seizure with an underlying predisposition to seizures
- diagnosis of an epilepsy syndrome
37
Focal seizures
originating within the networks linked to one hemisphere, often seen with underlying structural disease
38
Types of focal seizure
```
Focal aware (simple partial):
awareness unimpaired, no post octal symptoms, with focal motor/sensory/autonomic/psychic symptoms
```
Focal impaired awareness (complex partial):
awareness impaired at seizure onset/following simple partial aura, some post octal symptoms
focal to bilateral (secondary generalised):
focal seizure that spreads widely triggering a usually convulsive general seizure
39
Generalised seizures
originating at some point within & rapidly engaging bilaterally distributed networks leading to simultaneous onset of widespread electrical discharge with no localising features referable to a single hemisphere
NB all include loss of awareness
40
Absence seizure
non motor seizures
common presentation of epilepsy in childhood
brief LOC, interrupted motion/activity, blank stares, unresponsiveness, usually lasting 5-30 sec
may have subtle automatisms
consciousness rapidly returns
may occur multiple times during day
41
Tonic-clonic seizure
prodrome may occur hours before seizure e.g. mood change, irritability, anxiety
sudden LOC without warning
often bladder/bowel incontinence
Motor symptoms:
-Tonic: generalised muscle contraction, including apnoea, tongue biting, cyanosis, octal cry
-Clonic: rhythmic muscle twitching/jerking
Postictal:
hyper salivation, confusion, amnesia, unresponsiveness
42
Myoclonic seizure
sudden jerk of limb/face/trunk, pt may be thrown to the ground suddenly/violently or have a disobedient limb
43
Atonic seizure
sudden loss of muscle tone leading to fall, no LOC
also known as drop attacks
usually lasts ~2sec
44
Aetiology of seizures
mostly idiopathic
seizures with focal onset are more likely to have underlying disease
causes include cerebrovascular disease, brain neoplasm, head injury, neurodegenerative disease, drugs (e.g. isoniazid), CNS infection`
45
Focal seizures with intact awareness
from focal cerebral regions confined to 1 hemisphere
may have a prodrome
consciousness is always retained
features can include motor (clonic involuntary repetitive movements of contralateral limb/facial muscles) or sensory or psychiatric symptoms (parasthesia, vertigo, unusual/intense smells, complex sounds, hallucinations)
46
focal seizures with impaired awareness
frequently originate in temporal lobes
may have sensory/psychic symptoms (hallucinations, disorientation)
sudden behavioural arrest
impaired consciousness
automatisms e.g. lip smacking, chewing, fumbling
47
Investigating seizures
Pt history &collateral (key)
EEG (indicated after any unprovoked seizure)
MRI head (CT head if MRI unavailable)
Bloods (FBC/U&Es/LFTs/glucose/prolactin/creatinine/Ca2+)
ECG
LP (if CNS infection suspected)
consider short term video-EEG or inpatient video-EEG) or polysomnogrpahy
48
EEG results for epilepsy
may show generalised epileptiform activity (bursts of abnormal discharges) or focal localising abnormality
but also frequently normal even after provocation e.g. hyperventilation, visual stimuli, sleep deprivation
if seizure caught = epileptiform discharges
49
Management of simple focal seizures
1st line: carbamazepine or lamotrigine
2nd line: levetiracetam/sodium valproate
50
Management of generalised tonic-clonic seizures
1st line: sodium valproate
2nd line: carbamazepine/lamotrigine
51
Management of absence seizures
1st line: ethosuximide/sodium valproate
2nd line: lamotrigine
NB carbamazepine may exacerbate absence seizures
52
Atonic seizures treatment
Sodium valproate
53
Driving and epilepsy
6 months no driving:
if first time seizure & no underlying structural abnormality and no epileptiform activity on EEG
12 months no driving:
if first time seizure but not meeting above criteria
Epileptics:
can drive if seizure free fro 12 months
no driving whilst withdrawing/till 6months after withdrawing epilepsy medication
54
Status epilepticus
single seizure lasting >5 min or ≥2 seizures within a 5 minute period or without pt returning to baseline between seizures
55
Management of status epilepticus
ABCDE assessment
IV lorazepam/rectal diazepam/buccal midazolam (repeat dose at 10 minutes)
If seizure continues then IV phenytoin or phenobarbital
if no response/refractory (>45min) then RSI (with propofol/midazolam)
56
Sudden unexpected death in epilepsy (SUDEP)
defined as sudden, unexpected, non-witnessed, non-traumatic , non-drowning death of a person with epilepsy with or without a seizures excluding documented status epileptics and in whom post-mortem examination does not reveal a structural/toxicological cause of death
usually occurs in those with chronic epilepsy
often occurring in sleep, usually in a young person/young adult with medically intractable epilepsy
57
Parkinson's disease (PD)
idiopathic PD is a neurodegenerative disordering rthat involves progressive depletion of dopaminergic neutrons in the basal ganglia, particularly the substantial migration
generally idiopathic but some genetic predispositions exist (LRRK2, SNCA, PINK-1, Parkin)
2nd most common neurodegenerative disorder after alzheimers
58
Epidemiology of parkinson's
onset usually age 60-65yrs
more common in men
NB juvenile parkinson is onset <21 yrs
NB young onset PD is onset age 21-40 yrs
59
Pathophysiology of Parkinson's
selective loss nigrostriatal dopaminergic neutrons of the substantiated migration pars compacta
occurs with findings of intracytoplasmic eosinophilic inclusion (lewy bodies) & neuritis composed of misfolded, clumped alpha-synuclein
lead to ↓ activity of direct pathway & ↑activity of indirect pathway leading to ↑ inhibitory activity from globes pallidus/substatia migration zone reticulata to the thalamus leading to ↓ output to the cortex
60
Cardinal features of Parkinson's
Bradykinesia (hypokinesia, difficulty initiating movements, short shuffling gait, ↓ arm swing)
rigidity (cogwheel)
tremor (resting tremor, 4-6Hz, typically pin rolling of thumb & index)
61
Presentation of Parkinson's
gradually worsening symptoms
early stage:
constipation, anosmia, sleep disturbance
later:
Motor symptoms:
(Bradykinesia, rigidity, tremor) usually unilateral
postural instability, Prakinson's gait (shuffling), micrographia, ↓ facial expression
Non motor symptoms:
urinary urgency, orthostatic hypotension, impaired sexual function, psychiatric problems (e.g. depression, anxiety, sleep disturbance), fatigue, sleep fragmentation
62
Diagnostic criteria for Parkinson's
Bradykinesia plus ≥1 of:
- muscular rigidity
- 4-6Hz resting tremor
- postural instability not caused by primary visual/vestibular/proprioceptive dysfunction
63
Investigating Parkinson's
Generally clinical diagnosis
```
investigations to exclude differentials:
CT/MRI brain
SPECT scan
Flurodopa PET
genetic testing
24h urine copper (for Wilson's disease)
ceruloplasmin (for Wilson's disease)
```
64
Non-pharmacological management of Parkinson's
```
specialist referral
health & social care assessment
physiotherapy
physical activity
nutritional support
SALT
```
Surgical:
Deep brain stimulation (DBS) - for advanced PD not adequately controlled by medication
65
Pharmacological treatment of Parkinson's
Motor symptoms with affected QoL: Levodopa (L-Dopa)
Motor symptoms no affecting QoL: dopamine agonists/Levodopa
NB decarboxylase inhibitors e.g. carbidopa or COMT inhibitors e.g. entecapone/tolcapone may be offered with L-dopa when it begins to show ↓ effectiveness
SSRIs for depression
66
L-Dopa (levodopa)
dopamine precursor
may be combined with decarboxylase inhibitors e.g. carbidopa/benserazide to prevent peripheral metabolisation
honeymoon period of 5-10yrs before adverse effects arise
NOT effective in neuroleptic induced parkinsonism
67
Dopamine agonists
e.g. bromocriptine, cabergoline, rotigotine, apomorphine, pramipexole
similar adverse effects to L-Dopa but more severe & common
68
MAO-B inhibitors
e.g. selegiline, rasegiline
↓ breakdown of dopamine secreted by dopaminergic neutrons
early monotherapy may delay need for L-Dopa
69
Amantadine
NMDA antagonists
drug of choice for akinetic crisis
cannot be used long term, loses effect
70
COMT inhibitors
e.g. entecapone, tolcapone
inhibit catechol-O-methyltransferase = ↓ peripheral L-Dopa breakdown & ↓ CNS dopaminergic breakdown
usually used in conjunction with L-Dopa in those with established PD
71
L-Dopa adverse effects
usually arise after 5-10yrs honeymoon period
On-Off effect
Motor fluctuations (hypokinesia, dyskinesia)
Akinetic crisis
visual hallucinations
orthostatic hypotension (↓ with carbidopa)
Nausea & vominting (↓ with carbidopa)
72
On-Off effect of L-Dopa
pt may switch from controlled symptoms/dyskinesia to no effect/immobility over a few minutes
due to ↓ action of L-Dopa / wearing off of medication
may be helped by COMT inhibitors, prolongs release L-Dopa preparations or dopamine agonists
73
Motor fluctuations of L-Dopa
Hypokinesia:
end of dose akinesia (wearing off effect), freezing
Dyskinesia (hyperkinesia):
usually at beginning/end of dose or at peak
cana ct long acting dopamine agonist/ COMT inhibitors
74
Akinetic crisis in Parkinson's
condition caused by severe dopamine deficiency which may be cause by sudden L-Dopa suddenly discontinued
worsened motor symptoms + severe akinesia
treated with apomorphine, amantadine, L-Dopa
75
Other causes of Parkinson's
Drug induced e.g. antipsychotics or metoclopramide (usually rapid bilateral onset of symptoms)
Toxins
Wilson's disease
Alzheimers with Parkinsonism
Parkinson-plus syndromes (MSA, progressive supra nuclear palsy)
post-encephalitis
76
Hallmark of drug induced Parkinson's
bilateral symptoms
rapid onset
77
Parkinson-plus syndrome
rare neurodegenerative conditions presenting with Parkinsonism and a variety of other features
have less favourable prognosis than Parkinson's
generally do not respond to L-Dopa, have earlier involvement of autonomic nervous system and early onset of postural instability with frequent falls & dementia
78
Multiple system atrophy (MSA)
Parkinson plus syndrome
adult onset neurodegenerative disease characterised by neuronal degeneration in the substantia nigra
Presentation:
parkinsonism, cerebellar dysfunction (ataxia, tremor, dysarthria), urinary incontinence, erectile dysfunction, orthostatic hypotension
clinical diagnosis (hot cross bun sign on MRI)
only symptomatic treatment available
79
Progressive supra nuclear palsy (PSP)
presents with vertical gaze palsy (especially downward gaze), postural instability & frequent falls, wide base stance, retropulsion, bradykinesia, dysarthria, apathy, disinhibition, frontal lobe dysfunction
MRI: midbrain atrophy (hummingbird sign)
80
Corticobasal degeneration
neurdegeneration of the cerebral cortex & basal ganglia
presents with asymmetric motor abnormalities, alien limb phenomenon (pt perceives affected limb as not belonging to them), apraxia, cortical sensory loss
81
Huntington's disease (HD)
slow progressive neurodegenerative disorder characterised by chorea ( characterised by jerky involuntary movements), incoordination, cognitive decline , personality change & psychiatric symptoms
typically develops ages 35
82
Genetics of Huntington's
autosomal dominant inherited disease caused by mutation in Huntingtin gene (chromosome 4(
leads to trinucleotide repeat disorder with expansion of a CAG trinucleotide
exhibits phenomenon of anticipation
83
Pathophysiology of Huntington's
leads to degeneration of cholinergic & GABAergic neutrons in the striatum of the basal ganglia at start of indirect pathway leading to ↑ cortical activity
84
Presentation of Huntington's
Early stages:
personality change, self neglect, apathy, clumsiness, fidgeting, fleeting facial grimacing
Initial stage:
chorea (involuntary, sudden, irregular, non-repetitive arrhythmic movements of limbs/neck/head/face)
athetosis (involuntary writhing movements particularly of head/fingers)
hyperreflexia, saccadic eye movement slowed (head turning to shift gaze)
Advanced stages:
hypokinetic motor symptoms (dystonia, bradkykinesia, rigidity), akinetic mutism, motor impersistence (inability to sustain simple voluntary acts), dysarthria, dysphagia, clonus, spasticity
cognitive decline, behavioural change, dementia, more depressive disorder, aggression, psychosis
85
Investigations of Huntington's
generally clinical diagnosis
CAG genetic testing (≥40 CAG repeats = positive, ≤28 CAG repeats = normal, 28-40 CAG repeats = expanded sequence)
86
Management of Huntington's
SSRIs for depression & behavioural disorders
psychotherapy
physiotherapy
early palliative care input
atypical antipsychotics for psychosis & chorea
87
prognosis of Huntington's
currently relentless progressive disorder with steadily worsening symptoms
disease duration till death ~20yrs
death most commonly caused by intercurrent illness e.g. pneumonia
2nd most common cause of death = suicide
88
Multiple sclerosis (MS)
inflammatory immune mediated chronic degenerative disease characterise by repeated episodes of inflammation of the nervous tissue in the brain & spinal cord leading to demyelination
89
Epidemiology of Multiple sclerosis (MS)
3:1 female:male ratio
onset usually age 20-40 yrs
more common in white population
Family history = biggest risk factor
90
Subtypes of Multiple sclerosis (MS)
relapsing & remitting MS: (RR-MS)
most common form (~85-90%)
acute exacerbations lasting 1-2 months followed by periods of remission (≥ 30 days of clinical stability)
secondary progressive disease : (SP-MS)
pts who have deteriorated & developed neurological signs & symptoms between relapses
~65% of pts with RR-MS develop SP-MS within 15 yrs of diagnosis
primary progressive disease (PP-MS)
~10% of pts
progressive deterioration from onset
more common in older pts
91
Presentation of Multiple sclerosis (MS)
wide range of signs & symptoms, depend on location of lesions
often unspecific e.g. fatigue, headache, lethargy
```
Optic/visual symptoms:
optic neuritis (common early presenting feature, acute impaired vision & colourblindness)
generally unilateral relative afferent pupillary defect
intranuclear ophthalmoplegia, optic atrophy, eye movement issues
```
Sensory:
pins&needles, parenthesia/numbensss, trigeminal neuralgia, Lhermitte sign (shooting electric sensation in limb on neck flexion)
```
Motor:
spastic weakness (most commonly in legs)
```
Cerebellar:
ataxia, intention tremor, scanning, speech, nystagmus
```
others:
neuropathic pain, cranial nerve palsies, sensory ataxia, bowel&bladder dysfunction, sexual dysfunction
Uthoff phenomenon (reversible worsening neurological symptoms on ↑ body temp)
```
92
Lhermitte sign
shooting electric sensation in limbs on neck flexion
93
Uhthoff's phenomenon
reversible worsening neurological symptoms on ↑ body temp
94
Investigating Multiple sclerosis (MS)
- MRI brain/spinal cord (multiple sclerotic plaques, commonly in periventricular white matter)
- contrast enhanced MRI (enhancement of active lesions)
- Lumbar puncture (CSF = oligo clinical bands & ↑ CSF IgG)
95
McDonald criteria
used to diagnose Multiple sclerosis (MS)
based on dissemination in time & space of CNS lesions
disseminated in time = appearance of new lesions overtime / multiple relapses / active & old lesions on MRI
disseminated in space = presence of lesions in different regions of the CNS
96
Management of active multiple sclerosis (MS) relapses
1st line: high dose steroids e.g. oral/IV methylprednisolone (help shorten length of relapse)
2nd line: plasma exchange
97
Disease modifying drugs for Multiple sclerosis (MS)
Beta-interferon (↓ relapses rate by ~30%)
NB must have RR-MS/SP-MS + ≥2 relapses inlets 2 years + walk ≥100m unaided
Rituximab / ocrelizumab / alemtuzumab / fingolimod
98
Symptomatic treatments for Multiple sclerosis (MS)
Fatigue: trial of amantadine
Spasticity: baclofen / gabapentin + physiotherapy
bladder dysfunction: intermittent self catheterisation
Nystagmus (affecting visual acuity): gabapentin
99
Myasthenia gravis (MG)
chronic autoimmune disorder of the post synaptic membrane at the neuromuscular junction (NMJ) in skeletal muscle
the pathological process involves autoantibodies directed against the post synaptic acetylcholine receptors (AChR) leading to impaired neuromuscular transmission
100
Epidemiology of Myasthenia gravis (MG)
More common in women
women present earlier than men (usually during childbearing age)
males present later (age 40-70)
101
Aetiology of Myasthenia gravis (MG)
80-90% have autoantibodies against nicotinic AChR on post synaptic membrane of NMJ
5-10~ have autoantibodies against muscle specific tyrosine kinase (MuSK)
102
Associated conditions with Myasthenia gravis (MG)
Thymoma (in 10-15% of pts)
Thymic hyperplasia (65% of pts)
other autoimmune conditions: SLE, thyroiditis, RA
103
Presentation of Myasthenia gravis (MG)
Muscle fatiguability:
weakness worsens with activity & improves with rest
generally diurnal variation (worse in evening)
Eye muscle weakness:
patois, diplopia, blurred vision
Bulbar muscle weakness:
slurred speech, dysphagia, dysarthria, difficulty chewing
NO muscle wasting or fasciculations
Normal tone
unimpaired sensation
normal reflexes
104
Investigating Myasthenia gravis (MG)
AChR & MuSK antibody tests (+ve/↑ levels)
CT thorax (exclude thymoma)
single fibre EMG (↑ variability in motor latencies (jitter) or complete block in some neuromuscular transmission)
repetitive nerve stimulation (>10% ↓ in compound action potential amplitude between 1st & 4th potential of 10 = decremental response)
Edrophonium (tension) test: not commonly used, give short acting acetylcholinesterase inhibitor reversing symptoms
105
Management of Myasthenia gravis (MG)
1st line: Long acting acetylcholinesterase inhibitor
e.g. pyridostigmine (symptomatic treatment)
Immunosuppressant (usually in addition to pyridostigmine)
initially prednisolone then one of the below
e.g. azathioprine, cyclosporine, tacrloimus
emergent: rituximab, eculizumab, belimumab
thymomectomy (even if no thymoma)
106
Lambert-Eaton myasthenia syndrome (LEMS)
rare autoimmune disease of the NMJ that leads to impaired presynaptic release of acetylcholine (ACh) due to production of autoantibodies against presynaptic voltage gated Ca2+ channels required for presynaptic vesicle fusion to allow ACh release
rare condition
more common in males
107
Risk factors/Associated conditions for Lambert-Eaton myasthenia syndrome (LEMS)
associated with Small cell lung carcinoma
Risk factors:
cancer (found within 2 years of LEMS onset)
long term smoking history
108
Presentation of Lambert-Eaton myasthenia syndrome (LEMS)
generally insidious symptom onset
proximal muscle weakness (improves throughout day)
usually proximal muscles of lower limbs so gaits affected, then progresses to arms
limb-girdle weakness
hyporeflexia/arefelxia
autonomic symptoms (dry mouth, sexual dysfunction, constipation, postural hypotension)
ocular/oropharyngeal muscles rarely affected
repeated muscle contraction = ↑ strength initially before ↓ muscle strength (Lambert sign)
109
Presentation of Lambert-Eaton myasthenia syndrome (LEMS)
generally insidious symptom onset
proximal muscle weakness (improves throughout day)
usually proximal muscles of lower limbs so gaits affected, then progresses to arms
limb-grille weakness
hyporeflexia/arefelxia
autonomic symptoms (dry mouth, sexual dysfunction, constipation, postural hypotension)
ocular/oropharyngeal muscles rarely affected
repeated muscle contraction = ↑ strength initially before ↓ muscle strength (Lambert sign)
110
differences between myasthenia gravis & Lambert-Eaton syndrome
MG: commonly affects ocular/oropharyngeal muscles
LE: doesn't commonly affected ocular/oropharyngeal muscles
MG: normoreflexic
LE: hyporeflexia/areflexia
MG: autonomic symptoms uncommon
LE: autonomic symptoms common
MG: decremental response to repetitive stimulation
LE: incremental response to repetitive stimulation
MG: AChR antibodies positive
LE: no AChR antibodies
MG: good effect with acetylcholinesterase inhibitors
LE: little effect with acetylcholinesterase inhibitors
111
Investigating Lambert-Eaton myasthenia syndrome (LEMS)
AChR antibodies (-ve)
CT/MRI chest (for potential chest malignancy)
anti-VGCC antibodies (+ve)
consider bronchoscopy
EMG (incremental response to repetitive stimulation )
screen for underlying cancer for 2yrs after diagnosis
112
Management of Lambert-Eaton myasthenia syndrome (LEMS)
extensive search & treatment of underlying cancer
1st line: 3,4-diaminopyridine (improves muscle strength)
Immunosuppression:
IVIG, azathioprine, methotrexate, prednisolone
113
Charcot-Marie-Tooth disease (CMT)
the most common hereditary peripheral neuropathy, heterogenous group of inherited neuropathies
both motor & sensory nerves are usually affected with symmetrical changes on nerve conduction studies
progressive nerve disorder due to impaired axonal or Schwann cell growth & function
114
Charcot-Marie-Tooth disease (CMT) genetics
commonly autosomal dominant inheritance
CMT1A most common (>50% of cases)
different subtypes have different onsets
115
Presentation of Charcot-Marie-Tooth disease (CMT)
slow insidious onset & slow progression
CMT1 onset by age 10
muscle weakness & wasting starting distally in intrinsic muscles of feet moving into lower leg & thigh (foot drop, atrophy of calf muscles - champagne bottle legs, per caves, hammer toe)
ascending flaccid paralysis beginning distally
sensory loss follow some pattern of motor loss (↓ vibration & light touch) ↓ proprioception (sensory ataxia, high stepping gait)
116
Investigating Charcot-Marie-Tooth disease (CMT)
nerve conduction studies (↓ conduction velocity, ↓ action potential amplitude, generally symmetrical deficits in all tested nerves, ↑ distal latencies)
genetic testing for CMT genes
117
Management of Charcot-Marie-Tooth disease (CMT)
rehabilitation (stretching, mild-moderate exercise, orthotic devices)
analgesia for neuropathic/non-neuropathic pain
Surgical:
orthopaedic surgery to counteract foot & ankle problems
118
Guillain-Barre syndrome (GBS)
describes an immune mediated demyelinating polyneuropathy frequently this is post-infectious, cross-reactive autoantibodies attack the hosts own axonal antigens leading to inflammatory & demyelinating polyneuropathy with axonal degeneration
119
epidemiology of Guillain-Barre syndrome (GBS)
slightly more common in males
peak age 15-35 yrs & 50-75 yrs
120
Aetiology of Guillain-Barre syndrome (GBS)
frequently preceding GI infection or URTI ~1-7 weeks prior to symptoms onset
campylobacter jejune classically implicated
121
Subtypes of Guillain-Barre syndrome (GBS)
Acute inflammatory demyelinating polyneuropathy (AIDP): acute form of GBS, 60-80% of cases, peak symptoms <4 weeks
Chronic inflammatory demyelinating polyneuropathy (CIDP): chronic for of GBS, usually anti-GM1 antibodies, presents similar to GBS but lasts >8 weeks
Miller-Fisher syndrome: limited form of GBS involving cranial nerves
122
Presentation of Guillain-Barre syndrome (GBS)
initially back & leg pain (neuropathic)
progressive ascending symmetrical weakness of all limbs (usually legs affected first, bilateral ascending flaccid paralysis, proximal before distal muscles, areflexia/hyperreflexia, hypotonia)
Paraesthesia (peripheral, symmetrically starting in hand & feet)
123
Investigating Guillain-Barre syndrome (GBS)
Nerve conduction studies (↓ conduction velocity)
lumbar puncture (↑ protein, normall WCC)
antibody studies (antiganglioside antibodies)
ECG
FBC/U&Es/LFTs
124
Management of Guillain-Barre syndrome (GBS)
Plasma exchange
IVIG, can be given longterm e.g. CIDP (need to give DVT prophylaxis)
pain relief for neuropathic pain
NB: Steroids not recommended for treatment
125
Polyneuropathy/peripheral neuropathies
a disorder involving damage to multiple peripheral nerve fibres i.e. a generalised disease of the peripheral nerves
frequently a manifestation of systemic illness
classical presentation is a symmetric distal burning sensation or paresthesia
126
Aetiology of Polyneuropathies
Demyelinating:
CIDP, CMT , GBS, toxic polyneuropathy
Axonal:
diabetic neuropathy, alcohol abuse, HIV, lead poisoning, hypothyroidism
127
General presentation of polyneuropathies
symmetric numbest, paraesthesia starting in the feet & distal lower extremities
if severe may be glove & stocking distribution
balance & gait may be impaired
hyporeflexia
distal muscle wasting
128
Investigating polyneuropathies
```
FBC, HbA1c, TFTs, LFTs, Vit B12, folic acid
serum toxin screen
hepatitis serology
HIV test
nerve conduction studies
EMG
```
129
Diabetic neuropathy
progressive peripheral nerve injury due to chronic hyperglycaemia
presents with distal symmetric sensory loss, burning feet syndrome (symptoms worse at night), trophic skin changes, autonomic features (erectile dysfunction, gastric atony)
130
Alcoholic neuropathy
progressive peripheral nerve injury due to thiamine deficiency in chronic alcohol abuse + subacute combined degeneration of the spinal cord affecting dorsal columns
presents with symmetrical distal sensory loss (especially proprioception), burning feet syndrome
131
HIV neuropathy
progressive peripheral nerve injury due to HIV virus
presents with distal symmetrical neuropathy affecting sensory & motor nerves, may be exacerbated by retroviral therapy, autonomic features (erectile dysfunction, bladder dysfunction)
132
Motor neurone disease (MND)
a rare neurological condition of unknown cause which can affect upper motor neurone (UMN) & lower motor neurons (LMN)
subtypes include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy, progressive muscular atrophy, primary lateral sclerosis
generally presents around age 40, more common in men
133
General features of motor neurone disease
```
fasciculations
absence of sensory signs/symptoms
mixture of UMN & LMN signs
no cerebellar signs
ocular muscles spared
muscle atrophy
```
134
Amyotrophic lateral sclerosis (ALS)
~50% of MND pts
```
3 patterns:
limb onset (most common), bulbar onset (20%), respiratory onset (rare)
```
Presentation:
often starts as weakness in hands & feet
fasciculations, cramps, muscle stiffness
bulbar symptoms (dysarthria, dysphagia, tongue atrophy)
in advanced disease: cognitive impairment, autonomic features, respiratory failure
135
Progressive bulbar palsy
~20% of MND pts
presents with palsy of tongue, muscles of mastication/swallowing, facial muscles
worst prognosis
136
Primary lateral sclerosis
UMN signs only
e.g. hypertonia, hyperreflexia, upping plantar reflex, spasticity in bulbar muscles, exagerated jaw jerk, weakness mainly in arm extensors & leg flexors
137
Progressive muscular atrophy
LMN signs only
| distal muscles affected before proximal, weakness, atrophy, hyporeflexia, hypotonia
138
Myotonic dystrophy
an inherited myopathy effecting skeletal/cardiac/smooth muscle
most common form of adult onset muscular dystrophy
autosomal dominant trinucleotide repeat disorder, disease severity relates to number of repeats
DM-1 = chronic progressive, more severe
DM-2 = milder disease course
139
Presentation of myotonic dystrophy
```
myotonia (delayed muscle relaxation following normal muscle contraction)
muscle weakness
muscle atrophy
myalgia
bilateral ptosis
dysarthria
dysphagia
cataracts
arrhythmia
testicular atrophy/features of ovarian insufficiency
frontal balding
cognitive impairment
```
140
Investigating myotonic dystrophy
```
EMG (to identify myotonia spontaneous discharges of waxing & waning amplitudes & frequencies)
genetic testing
muscle biopsy
CK (↑)
FHS (↑)
testosterone (↓)
```
141
Duchenne muscular dystrophy (DMD)
most common muscular dystrophy
X-linked recessive mutation of dystrophin gene
presents by age 3
progressive muscle paresis & atrophy (starts in pelvic girdle then spreads), weak reflexes, waddling gait, calf pseudo pseudohypertrophy, delayed motor milestones, scoliosis
142
Becker's muscular dystrophy (BMD)
X-linked recessive mutation of dystrophin gene (partially functioning)
milder clinical course than Duchenne & slower progression
Similar presentation to Duchenne but less severe
delayed walking, muscle cramps on exercise, children struggle with sport, muscle weakness (mainly in proximal limbs), pseudohypertrophy of calves
143
Facioscapulohumeral muscular dystrophy (FSHD)
common adult onset muscular dystrophy
autosomal dominant inheritance
presents with progressive muscular weakness (asymmetrical) affecting face, scapula, upper arm, muscle pain is common
144
Limb-girdle muscular dystrophy (LGMD)
rare group of muscular dystrophies
generally autosomal recessive
presents with paresis & subsequent atrophy of pelvic & shoulder girdle muscle
145
Investigating muscular dystrophies
Creatine kinase (↑↑↑, 50-100x)
LFTs (↑ transaminase)
EMG (myopathic reading)
Muscle biopsy (absent dystrophin gene in DMD, ↓ quantity of dystrophin in BMD)
146
Management of muscular dystrophies
physiotherapy including respiratory physio
orthopaedic assistance devices & mobility aids
psychological support
ventilatory support
respite care for families
palliative care
147
Spinal muscular atrophy (SMA)
autosomal recessive group of motor neurone disease caused by apoptosis of LMNs
a spectrum of disorders that affect survival motor neurone gene 1 (SMN1)
SMA2 is the most common
148
Presentation of Spinal muscular atrophy (SMA)
```
symmetrical muscle weakness & atrophy affecting bulbar/limb/respiratory muscles
if infantile onset = floppy baby
hypotonia
weak cough
joint contractures
dysphagia
respiratory failure
hyporeflexia
fasciculations
```
sacral & CN III/IV/VI motor neurons preserved = preserved eye movements & continence
149
Investigating Spinal muscular atrophy (SMA)
creatine kinase (slightly ↑)
genetic testing
muscular biopsy (muscle fibre atrophy)
electrophysiology (↓ nerve signals, normal sensory conduction)
150
Management of Spinal muscular atrophy (SMA)
MDT & palliative care approach
orthotics
respiratory support
151
polymyositis
inflammatory disorder causing symmetrical proximal muscle weakness
onset age 30-60, more common in females
Presentation:
proximal muscle weakness ± tenderness (difficulty rising from chair, climbing stairs, combing hair)
distal muscles spared (i.e. preserved fine motor function of hand)
atrophy of muscles
preserved reflexes & sensation
```
Investigations:
creatine kinase (↑), LDH/AST/ALT (↑), Anti-Jo1 antibodies (worse prognosis, associated with raynauds & interstitial lung disease), CRP (↑)
EMG, Muscle biopsy (endomysial inflammatory infiltrates))
```
152
Dermatomyositis
symmetrical proximal muscle weakness + characteristic skin lesions
systemic upset, fever, arthralgia, malaise, weight loss
mechanics hands (dry, clay hands with linear creases)
Gottron's papules (roughed red papule over extensor surfaces of fingers)
macular rash over back & shoulders
Investigations:
CK (↑), aldolase (↑), LDH (↑)
ANA antibody (+ve)
EMG & muscle biopsy
153
Inclusion body myositis
most common age related muscular disease, usually occurring above >50 yrs of age
presents with slow progression of selective & asymmetrical muscle weakness in proximal & distal muscle groups, fatigue, exercise intolerance, dysphagia, hyporeflexia
Investigations:
EMG, Muscle biopsy
154
Bulbar palsy & pseudo bulbar palsy aetiology
brainstem stroke/tumour
neurodegenerative disease
infective neuropathies
155
Bulbar palsy presentation
bilateral damage/injury of CN IX/X/XI/XII
normal facial expression/normal jaw jerk/emotions unaffected
absent gag reflex
tongue (wasting, fasciculations, inability to protrude tongue)
nasal sounding speech
dysphagia
drooling
nasal regurgitation
156
Pseudobulbar palsy presentation
bilateral damage/injury of CN V/VII/IX/X/XI/XII
```
expressionless face (absent facial expression)
spastic dysarthria
dysphagia
drooling
brisk gag reflex
exaggerated clonic jaw jerk
tongue (spastic, pointed, no wasting/fasciculations)
emotional incontinence
```
157
Bulbar palsy vs pseudo bulbar palsy
```
Bulbar:
normal facial expression
normal jaw jerk
emotions unaffected
absent gag reflex
```
```
Pseudobulbar:
expressionless face
exaggerated clonic jaw jerk
emotional incontinence
brisk gag reflex
```
158
Intranuclear ophthalmoplegia (INO)
Damage to medial longitudinal fasiculus (connection between abducens nucleus CNVI on one side & occulomotor nucleus CNIII on the other side) leading to impaired lateral gaze
e.g. caused by MS (bilateral), haemorrhage or brain tumours
159
Intranuclear ophthalmoplegia (INO) manifestation
```
impaired adduction of the eye ipsilateral to the lesion
dissociated nystagmus (gaze to opposite side = nystagmus of abducted contralateral eye)
```
160
Occulomotor nerve (CN III) palsy
Ptosis
Down & out eye
fixed dilated pupil
161
Trochlear nerve (CN IV) palsy
defective downward gaze = vertical diplopia (struggles walking up stairs/reading)
impaired superior oblique
162
Abducens nerve (CN VI) palsy
defective abduction leading to horizontal diplopia
estropia (medial deviation of unaffected eye at primary gaze)
most common ocular cranial nerve palsy
163
Extradural/epidural haemorrhage (EDH)
a collection of blood in the potential space between the dura & skull (the bone may also be the spine) i.e. haemorrhage into the epidural space between dura mater & calvarium
most commonly traumatic cause
164
Epidemiology of extradural haemorrhage
4:1 male:female ratio
most commonly seen age 20-30
uncommon over age 50
165
Presentation of extradural haemorrhage
classically head injury associated with LOC
followed by 'lucid interval' i.e. regained consciousness & near normal neurological function
then further deterioration of consciousness & symptoms ↑ ICP (contralateral neurological deficits, headache, cushings triad, seizures, N&V, unilateral fixed dilated pupil, coma,)
may have evidence of skull fracture (seen in >75% of EDH) e.g. CSF rhinorrhoea/otorrhoea, battle sign, raccoon eyes
NB posterior fossa EDH = quick deterioration & death
166
Cushings triad
Hypertension (especially systolic BP)
Bradycardia
irregular breathing
167
extradural haemorrhage investigations
non contrast CT head:
biconvex (lenticular shaped) sharply demarcated extra cranial lesion with hyper dense appearance limited by suture lines, often also skull fracture)
168
Management of intracranial haemorrhages
ABCDE assessment
urgent neurosurgery referral
empiric ICP management (head up nursing, hyperventilation, IV mannitol/hypertonic saline)
Neursurgery
169
Subdural haemorrhage (SDH)
collection of blood between the dura and arachnoid coverings of the brain
most often due to rupture of bridging veins
generally traumatic, but may be low energy trauma in elderly due to stretching of bridging veins as the brain atrophies
170
Types of subdural haemorrhage
Acute: symptom onset within 3 days
Subacute: symptom onset 3-7 days post initial bleed
Chronic: symptom onset 2-3 weeks after initial bleed
171
Risk factors for subdural haemorrhage
anticoagulant use
↑ age
alcoholics
172
Presentation of acute subdural haemorrhage
```
usually presents shortly after moderate-to-severe head injury
may progress rapidly
depressed GCS
LOC
focal neurological signs
signs of cerebral herniation
pupillary abnormalities
↑ICP (headache, N&V, cushings triad)
seizures
```
173
Presentation of chronic subdural haemorrhage
```
insidious onset & gradual progression
altered mental state (confusion, delirium, excessive drowsiness)
recurrent headaches
cognitive deficits (impaired memory)
focal neurological deficits
ataxia
recurrent falls
```
174
Investigating subdural haemorrhage
Non contrast CT head:
crescent shaped concave sharply demarcated lesion that crosses suture lines, but does not cross midline ± middle shift
Acute: hyperdense (white)
Subacute: isodense
Chronic: hypodense (dark)
NB most commonly supratentorial
175
Differentiating acute & chronic blood on CT
Acute: hyperdense (white)
Subacute: isodense
Chronic: hypodense (dark)
176
management of asymptomatic subdural
conservative management
177
Subarachnoid haemorrhage (SAH)
haemorrhage into the subarachnoid space
may be traumatic or non traumatic e.g. from aneurysm
~5-10% of all strokes are caused by non traumatic SAH
mean age of pts is 50yrs
178
Risk factors for subarachnoid haemorrhage
```
HTN
smoking
cocaine use
alcohol issue
Marfan's syndrome
family history
```
179
Presentation of Subarachnoid haemorrhage (SAH)
thunderclap headache:
sudden extremely painful headache, usually described as worst headache ever, often occipital
Meningism (photophobia, neck stiffness)
LOC
seizures
mass effect (altered mental state, focal neurological deficits)
180
Investigating Subarachnoid haemorrhage (SAH)
Non contrast CT head:
hyper dense blood in subarachnoid space, usually in basal cistern & sulci
```
Lumbar puncture + CSF analysis (usually after 12h if CT inconclusive) :
bloody CSF (xanthochromia), ↑protein, ↑opening pressure
```
181
Subfalcine herniation
cingulate gyrus of one hemisphere compressed & herniates under fall cerebri leading to hydrocephalus & hemiparesis
182
Uncal herniation
medial temporal lobe herniates at tentorial incisure leading to fixed dilated pupil, contralateral homonymous hemianopia, Kernohan phenomenon (paradoxical ipsilateral weakness)
183
Tonsilar herniation
structures of the posterior fossa herniate through foramen magnum leading to LOC/impaired consciousness, apnoea, posturing, death
184
Cerebral aneurysm
a focal abnormal dilation of the wall of cerebral artery which are generally located at the branching points of major cerebral arteries
fairly common (~3% of population) often asymptomatic\
more common in women
185
Types of aneurysms
```
Saccular (berry) aneurysm:
most common (~85%), have round saccular shape, most commonly at junction of ACA & anterior communicating artery
```
Fusiform aneurysm:
dilation of entire circumference of artery, associated with connective tissue disease & atherosclerosis
Myotic aneurysm:
mushroom dilation of infected vessel walls caused by septic emboli
Charcot-Bouchard microaneurysm:
associated with HTN & diabetes, often affecting small lenticulostriate vessels of basal ganglia + thalamus
186
Presentation of aneurysms
generally asymptomatic
if they rupture lead to Subarachnoid haemorrhage
may elicit mass effect & compress brain structures
187
Investigations for aneurysm
ruptured aneurysm as per SAH i.e. LP (xanthochromia) & non contrast CT head
angiography (can see aneurysm in relation to arteries)
CT angiogram/MRI angiogram
188
Aneurysm management
conservative:
follow up, lifestyle advice, BP control
Surgical clipping or end-vascular coiling/obliteration
(usually if >5mm or growing, in posterior circulation or near communicating arteries)
189
Arteriovenous malformation (AVM)
congenital vascular malformation leading to abnormal connections between arteries & veins bypassing the capillaries
80% asymptomatic, 20% present with haemorrhage or seizures
investigate with CT/MRI brain + CT/MRI angiogram
managed conservatively or with endovascular embolisation or stereotactic radiotherapy (gamma knife)
190
Cerebral/Intracranial venous thrombosis
a thrombotic obstruction of the cerebral venous system which can lead to ischaemic or haemorrhagic lesions in the brain
relatively rare, causes ~5% of strokes
women more frequently affected, usually aged 30-40 yrs
191
Aetiology of intracranial venous thrombosis
```
infection (staph aureus most common)
trauma
pregnancy
hypercoaguable state (e..g antiphospholipid syndrome)
dehydration
```
192
Presentation of intracranial venous thrombosis
symptoms depend on size & location of thrombosis
often unspecific & masked by underlying disorder
headache = most common
signs of intracranial hypertension (bilateral papilloedema, N&V, diplopia, vision loss, confusion)
Signs of cranial nerve dysfunction
seizures
193
Investigating intracranial venous thrombosis
CT/MRI & CT/MRI angiography (absence of flow on venogram, intraluminal venous thrombosis, may show areas of infarction not in keeping with arterial occlusion)
D-dimer
FBC/Coag/U&Es/CRP/LFTs/Blood cultures
LP
Thrombophilia screen
194
Management of intracranial venous thrombosis
anticoagulation (LMWH at treatment dose) + warfarin long term
empiric Abx
end-vascular intervention/surgery (if severe, or rapidly progressing symptoms)
195
Cavernous venous sinus thrombosis
rare type of intracranial venous thrombosis typically affecting young adults, acute sinusitis = common predisposing condition
may have septic cause with a sinusitis spreading into cavernous sinus via sphenoid bone
Presents with rapid onset, pt in septic state, CN III/IV/V1/V2/VI palsies (CN VI affected first as only true intra cavernous nerve) = ophthalmoplegia, absent corneal reflex, loss of upper facial & corneal sensation, Horner syndrome (mitosis, partial ptosis, facial anhidrosis)
treat with LMWH & Abx
196
Complete cord lesion
complete sensory & motor loss below the level of injury
presents as flaccid, arreflexic paralysis below level of injury which may progress to spastic paresis, hyper reflexia & continued sensory loss
may be temporary e.g. in spinal concussion
197
Neurogenic shock
may present if a lesion is present in high thoracic or cervical spine above T6
leads to triad of hypotension, relative bradycardia, hypothermia but with flushed warm extremities
198
Central cord syndrome
injury to central region of spinal cord (central corticopsinal tracts & decussating fibres of lateral spinothalamic tracts)
most common incomplete spinal syndrome
seen in cervical spondylosis
presents in cervical lesions with motor weakness that is more pronounced in upper limbs than lower limbs
+
variable sensory loss with pain and/or temp sensation likely to be affected
+
burning sensation in upper extremities common
199
Anterior cord syndrome
damage to anterior 2/3 of the cord usually due to occlusion of the anterior spinal artery
presents with complete motor paralysis below lesion due to anterior horn cell & corticospinal tract involvement
+
loss of pain & temp sensation below lesion as spinothalamic tract involved
+
autonomic dysfunction (e.g. orthostatic hypotension) as anterior horn cells are damaged
+
bladder/bowel/sexual dysfunction
200
Posterior cord syndrome
very rarely occurs in isolation, usually due to penetrating trauma
presents with bilateral loss of proprioception, vibration & fine touch below lesion
motor function & pain/temp sensation remains intact
201
Brown-Sequard syndrome
hemicord syndrome due to hemisection of cord e.g. from penetrating trauma
presents with
ipsilateral loss of proprioception/fine touch/vibration sense below lesions as dorsal columns affected
+
ipsilateral UMN spastic paralysis below lesion due to lateral corticospinal tract involvement
+
ipsilateral loss of motor & sensory function just below lesion due to injury of ventral & dorsal grey matter
+
contralateral loss of pain & temp sensation due to damage to ascending lateral spinothalamic tracts (decussates 2-3 levels above respective dorsal root)
202
Investigating spinal syndromes
MRI
203
Managing spinal syndromes
neursurgical referal
| maintain stability of spine & immobilise
204
Cervical myelopathy/radiculopathy
cervical myelopathy: pressure/compression of spinal cord
cervical radiculopathy: pressure/compression of cervical nerve root
generally caused by degenerative cervical spinal disease & cervical spondylosis
very common, incidence ↑ with age
205
Presentation of cervical myelopathy/radiculopathy
cervical pain (worsened by movement)
pain in shoulder/upper/lower limbs
cervical stiffness
poor balance
numbness/tingling/weakness in upper/lower limbs
hyporeflexia (radiculopathy as LMN lesion)
hyperreflexia (myelopathy as UMN lesion)
Hoffman's sign (to assess for cervical myelopathy. gently flick one finger on a patient's hand. A positive test = reflex twitching of the other fingers on the same hand)
206
Hoffman's sign
is a reflex test to assess for cervical myelopathy. It is performed by gently flicking one finger on a patient's hand. A positive test results in reflex twitching of the other fingers on the same hand in response to the flick.
207
Investigating cervical myelopathy/radiculopathy
```
cervical MRI (gold standard)
cervical X-rays
```
208
Management of cervical myelopathy/radiculopathy
conservative (for 3-4 weeks)
surgical: decompressive surgery
209
Degenerative disc disease/ spinal cord compression
refers to a variety of pathologies involving displacement of disc material into the spinal canal resulting in compression of the spinal cord or a nerve root
very common, especially with ↑ age
210
Most common site for spinal cord compression
L5-S1
followed by L4-L5
211
Presentation of Degenerative disc disease/ spinal cord compression
lower back pain (acute onset) with stabbing electric shock like character, may radiate into arms/legs
paraesthesia of affected dermatome & muscle weakness in myotome ± atrophy
absent/hyporeflexia
212
Conus medullaris syndrome
damage to spinal cord between T12-L2
leads to sudden bilateral symmetrical hyperreflexia of lower limbs, distal paresis, absent achilles reflex, symmetrical numbness with quite severe back pain
early onset bladder/bowel incontinence, erectile dysfunction
213
Cauda equina
compression of spinal cord below L2 (cauda equina) affecting nerve fibres from L3-S5
presents with bilateral sciatica
lower back pain
asymmetric flaccid paresis of legs
saddle anaesthesia
asymmetric numbness/paraesthesia in lower limbs
↓ anal tone
late onset urinary retention & overflow incontinence
214
Investigating Degenerative disc disease/ spinal cord compression
MRI spine
straight leg raise test (pain radiating down the leg during test = positive for disc disease)
Spurling manoeuvre (turning pts head to the affected side while extending and applying downward pressure to the top of the patient's head
215
Management of Degenerative disc disease/ spinal cord compression
physiotherapy
analgesia (NSAIDs)
intravertebral corticosteroid injections
surgery
216
Syringomyelia
abnormal fluid filled cavity or syrinx develops within the central canal of the spinal cord due to disrupted CSF drainage from the central canal
217
Aetiology of syringomyelia
Chiari malformation (most common cause >50%, cerebellum protrudes through foramen magnum)
trauma, tumours, idiopathic, scoliosis
218
Presentation of syringomyelia
often asymptomatic
classic: cape/shawl distribution of dissociative sensory loss (i.e. loss of pain & temp control, but retained fine touch/vibration/propioception)
spastic weakness
paraesthesia
neuropathic pain
muscle atrophy
219
Investigating syringomyelia
MRI spine & MRI brain
220
Management of syringomyelia
usually conservative management sufficient
physio
analgesia (NSAIDs, amitriptyline, gabapentin)
Baclofen (for spasticity)
surgery
221
Meningitis
an inflammation of the meninges in the brain or spinal cord which is most commonly caused by viral or bacterial infections but may also be due to fungal, parasitic or non infectious causes
viral meningitis is more common & often more benign than bacterial meningitis
222
Epidemiology of meningitis
can occur at any age
most at risk are infants
2nd peak in teenagers & young adults
223
Risk factors for meningitis
```
young age
immunosuppression
smoking
CSF shunts/dural defects
crowding (e.g. student halls ↑ meningococcal meningitis)
spinal procedures
splenectomy/sickle cell
```
224
Aetiology of meningitis
Neonates: Group B strep (most common), E.coli, listeria
Children & young adults: Neisseria meningitidis
adults & elderly: strep pneumoniae
Immunocompromised: Klebsiella, staph aureus
viral causes: HSV & enteroviruses
225
Presentation of meningitis
Classic triad of fever, headache, neck stiffness
fever, headache, nausea&vomiting, lethargy, irritability, joint pain, muscle aches/pains, poor appetite
photophobia, neck stiffness, altered mental state, coma
Kernings sign (flex thigh at hip & extending knee in supine position = pain)
rash (meningococcal rash)
226
Investigating meningitis
Blood cultures
serum meningococcal/pneumococcal PCR
FBC/U&Es/LFTs/ABG/coag/HIV screen/CRP/prolactin
Lumbar puncture (only if no signs of ↑ICP)
227
CSF in different meningitis
Bacterial: cloudy, ↑protein, ↓glucose, 10-5000 polymorphs/mm3
Viral: clear/cloudy, - protein, - glucose, 15-1000 lymphocytes/mm3
TB: fibrin webs, ↑protein, ↓glucose, 30-300 lymphocytes/mm3
Fungal: cloudy, ↑protein, ↓glucose, 20-200 lymphocytes/mm3
228
Management of viral meningitis
no specific treatment
acyclovir for HSV
ganciclovir for CMV
229
Management of bacterial meningitis
empirical Abx within 1h:
generally IV cefotaxime/ceftriaxone ± amoxicillin (to cover listeria in infants & the elderly)
Once organism identified
meningococcal/pneumococcal/H.influenzae: IV cefotaxime/ceftriaxone
Listeria: IV amoxicillin + gentamicin
230
Encephalitis
an inflammation of the brain parenchyma associated with neurological dysfunction, it is the result of infectious or non-infectious causes
meningoencephalitis is a combination of encephalitis & meningitis
231
Aetiology of encephalitis
cause only identified in ~50% of cases, mainly viral causes
Herpes simplex virus = most common identified pathogen (herpes complex encephalitis (HSE) = usually in temporal & inferior frontal lobes)
bacterial causes are rare but include neurosyphilis
232
Presentation of encephalitis
Classic triad of fever, headache, altered mental status
often pts present with meningitis fever (fever, headache, photophobia, neck stiffness, vomiting)
followed by altered consciousness, convulsions/seizures, focal neurological signs (aphasia, hemianopia, ataxia, tremors)
Rash may be present
behavioural changes (hypomania, hyper sexuality, agitation)
233
Investigating encephalitis
LP & CSF analysis (lymphocytosis with normal CSF glucose, ↑protein, clear CSF)
CSF PCR for HSV/VZV/enterovirus
FBC/Blood smear/U&Es/LFTs
CT/MRI head
EEG (abnormal in >80% of pts)
234
Management of encephalitis
Empiric treatment should be started just like in meningitis if encephalitis is suspected
prompt treatment with IV aciclovir (monitor for nephrotoxicity)
usually empiric cover for meningitis given with IV cefotaxime/Ceftriaxone or IM benzylpenicillin (if GP)
235
Primary care empirical treatment for suspected meningitis
IM Benzylpenicillin + hospital transfer
236
Hepatic encephalopathy
Secondary to serve liver disease e.g. cirrhosis due to accumulation of neurotoxic metabolites especially ammonia (NH3) which causes cerebral oedema
Presentation:
fatigue, lethargy, altered level of consciousness, disorientation, irritability, memory loss, impaired sleep cycle, slurred speech, aberrant behaviour
asterixs: liver flap, arrhythmic negative myoclonus
Management:
lactulose (1st line)
rifaximin (2nd line/prophylaxis)
237
Wernicke's encephalopathy & Korsakoff syndrome (Wernicke-Korsakoff syndrome)
Wernicke's is caused by thiamine deficiency most commonly seen in alcoholics (reversible with thiamine)
presents with triad of nystagmus, confusion, ataxia, ophthalmoplegia, altered GCS, peripheral sensory neuropathy
Korsakoff syndrome is chronic & irreversible, developing on top of Wernicke's due to chronic thiamine deficiency
presents with confabulation, antero/retrograde amnesia, personality changes, hallucinations, confusion, disorientation
```
Treatments:
thiamine replacement (pabrinex IV) & alcohol abstinence
```
238
Hydrocephalus
refers to abnormal enlargement of cerebral ventricles and/or subarachnoid space as a result of excess cerebrospinal fluid accumulation
due to an imbalance of CSF production & absorption
239
Communicating hydrocephalus
or non-obstructive
due to ↑CSF production or ↓CSF absorption in the absence of a CSF flow obstruction, leads to ↑ICP
more common than obstructive hydrocephalus
causes:
infection, SAH, meningitis, choroid plexus papilloma ( ↑ production), idiopathic (1/3 cases in adults)
240
Non communicating hydrocephalus
or obstructive
due to obstructed passage of CSF from ventricles to subarachnoid space, leads to ↑ICP
causes:
tumours, intraventricular haematoma, Chiari malformations
241
Normal pressure hydrocephalus
chronic form of communicating hydrocephalus occurring in older individuals (>60y/o) due to ↓CSF absorption but has normal ICP because of compensation for the slow accumulation by ventricular dilation
242
Presentation of hydrocephalus
Features of ↑ICP
headache (worse on bending over, coughing, in morning), nausea, vomiting, papilloedema, abnormal gait, impaired consciousness, abducens nerve palsy
cushings triad (irregular breathing, hypertension (with wide pulse pressure), bradycardia)
blurred vision, impaired upward gaze
in infants (macrocephaly, bulging fontanelles)
243
Classic presentation of Normal pressure hydrocephalus
urinary incontinence
dementia
gait disturbance
244
Investigating hydrocephalus
CT/MRI head (pattern of ventricular enlargement helps define cause, may show underlying pathology e..g neoplasm)
USS (especially in infants with open fontanelles)
245
Management of hydrocephalus
Medication to stabilise pt before surgery:
acetazolamide, furosemide
```
surgery:
extra ventricular drain (in severe cases, temporary)
ventriculoperitoneal shunt (long term, diversion of CSF to peritoneum)
```
In communicating LP can be used to relief pressure acutely (NB do not do this in non communicating as this can lead to brain herniation)
246
Red flags for headaches
```
sudden onset severe headache
fever
focal neurological deficits
new headache age >50yrs
progressive worsening headaches
immunodeficiency
seizures
meningeal signs
psychiatric symptoms
failure to reason to analgesia
visual deficits
pregnancy/postpartum
signs of ↑ICP
confusion/impaired level of consciousness
```
247
Tension type headache
Most common type of headache
Types:
- episodic: <15 days/month
- chronic: >15days/month
more frequently seen in females, peak incidence age 30-39
exacerbating factors:
fatigue, lack of sleep, poor posture, anxiety, stress, depression
248
Presentation of tension type headache
```
usually episodic headache lasting ~30min to a couple of days
mild to moderate severity
band like pressure/tightness
dull pressing non pulsating quality
generally bilateral & generalised
```
no aura/photophobia/phonophobia, not aggravated by exercise
249
management of tension type headache
Episodic:
NSAIDs, paracetamol, aspirin
Chronic:
TCAs e.g. amitriptyline
avoid stress, lifestyle changes (e.g.g better sleep pattern)
250
Migraine
2nd most common type of headache
3x more common in women
Risk factors:
family history, female sex, sleep disorders, obesity
Triggers:
stress, alcohol, nicotine, poor sleeping habits, weather changes, hormonal changes
251
Presentation of migraines
```
usually unilateral headache
severe
throbbing in character (may progress to pounding/pulsating pain)
lasting up to 72h
exacerbated by physical activity
```
associated with photophobia, photophobia, nausea&vomiting
1/3 preceded by aura (typically visual/other sensory disturbance e.g. scintillating scotoma or flashing lights)
252
Management of acute migraine
```
simple analgesia (NSAIDs, paracetamol, aspirin)
± antiemetics e.g. prochlorperazine, domperidone
if not sufficient consider triptans e.g. zolmitriptan
```
NB menstrual migraine is treated with mefenamic acid
253
Migraine prophylaxis
1st line: beta blockers e.g. propanolol (avoid in asthmatics) or topiramate (avoid in pregnancy)
2nd line: amitriptyline or sodium valproate
3rd line: pizotifen
254
Cluster headache
also know as suicide headaches
more common in men, peak incidence age 20-40
Risk factors:
tobacco use, alcohol misuse, family history, male sex, head injury
Triggers:
alcohol, histamines, seasonal fluctuations
255
Presentation of cluster headaches
strictly unilateral headache (always occur on same side)
periorybital and/or temporal
agonising pain, intense sharp/stabbing pain around eye
generally short reoccurring attacks that happen in clusters lasting 4-12 weeks
pain lasts 15min - 2h
ipsilateral autonomic symptoms:
conjunctival injections, lacrimation, rhinorrhoea
256
Management of cluster headaches
Aute:
100% O2, triptans e.g sumatriptan
Prevention:
1st line: verapamil
2nd line: prednisolone, lithium, melatonin, topiramate
257
Medication overuse headache
one of the most common causes of chronic daily headache, generally considered a secondary headache
caused by overuse of analgesia used to treat preexisitng chronic headache
usually affects women aged 40-49
Presents with headache ≥15 days/month with tension like qualities, worse in morning. which develops/worsens whilst taking regular symptomatic medication
treated with complete withdrawal of offending medication (resolving headache after withdrawal = indicative)
258
Trigeminal neuralgia
Facial pain syndrome in the distribution of ≥1 divisions of the trigeminal nerve
more common in females, Usually seen at age >40 yrs with peak at age 60-70 yrs
generally caused by trigeminal nerve root compression by a loop of artery/vein
259
Presentation of trigeminal neuralgia
unilateral facial pain:
paroxysmal, severe, shooting.stabbing pain followed by a burning ache, lasts a couple of second (rarely >2min) and may occur up to 100x daily
triggers may include vibrations, chewing, shaving, brushing tees or talking
often associated with psychological distress
260
Mangement of trigeminal neuralgia
1st line: carbamazepine
2nd line: gabapentin + regular ropivocaine injections or pregabalin
3rd line: botulinum toxin A
Surgery:
by removing compression or damaging nerve to prevent pain transmission
261
Risk factors for brain tumours
inherited syndromes e.g. neurfibromatosis/tuberous sclerosis
ionising radiation
immunosuppression
smoking
262
Presentation of brain tumours
```
headache (worse in mornings/waking from sleep)
nausea & vomiting
cognitive & behavioural symptoms
seizures
papilloedema
progressive focalneurolgical deficits
```
in children often failure to thrive
263
Location of adult vs paediatric brain tumours
adult = mostly supratentorial
children = mostly infratentorial
264
Investigating brain tumours
Baseline bloods
MRI/CT ± contrast
technetium brain scan
biopsy
consider CT Chest/Abdo/Pelvis (to identify primary lesion)
265
Management of brain tumours
Surgical removal
radiotherapy
chemotherapy
corticosteroids (dexamethasone) to ↓ cerebral oedema & mass effect
266
Metastatic brain cancer
most common for of brain tumour in adults
```
common origins:
lung cancer (most common), breast cancer, malignant melanoma, renal cell carcinoma, colorectal carcinoma
```
frequently seen as multiple well circumscribed tumours
consider surgery if ≤3 metastases & primary controlled otherwise stereotactic radiosurgery/chemo&radiotherapy
267
Glioblastoma multiforme
most common primary CNS tumour in adults, associated with poor prognosis (~12 months), usually located in white matter of cerebral hemisphere, very aggressive tumour
average age of diagnosis ~55yrs
presents as solid tumour with central necrosis & rim that enhances with contrast
treatment is surgical with post op chemo/radiotherapy
268
Menigioma
2nd most common primary brain tumour in adults, slow growing extra axial tumour arising from arachnoid villi, causes symptoms of compression rather than invasion \
usually seen in pts aged >65yrs
on imaging = well defined round tumour resembling a snow ball growing form the meninges
usually found on fall cerebri, superior sagittal sinus or skull base (high recurrence rate)
treated surgical generally
269
Vestibular schwannoma/acoustic neuroma
bening tumour arising from schwann cells & primarily originate within the vestibular portion of CN VIII, frequently seen in cerebropontine angle but originally forms in internal acoustic canal
usually unilateral
presents with sensorineural hearing loss, facial nerve palsy, tinnitus, dizziness, unsteady gait, disequilibrium
treatment = surgical removal + radiotherapy (NB small tumours may be active observed)
270
Condition associated with bilateral acoustic neuromas
neurofibromatosis 2
271
Pilocystic astrocytoma
most common primary brain tumour in children
usually well demarcated cystic lesion on imaging with bright contrast enhancing nature
surgical resection = treatment of choice
272
Medulloblastoma
aggressive paediatric brain tumour derived from primitive neuroectodermal tissue
most common malignant paediatric brain tumour, spreads via CSF (may see drop metastases in spinal cord)
surgical resection ±adjuvant chemo
273
Ependymoma
commonly seen in 4th ventricle, usually in children & young adults
may cause non-communicating hydrocephalus
274
Hemangioblastoma
rare benign vascular tumour of cerebellum associated with von Hippel-Lindau syndrome, highly vascular with little parenchyma
275
Pituitary adenoma
benign tumour of pituitary gland that may be secretory or non-secretory, relatively common
presents with symptoms of hormone excess e.g. acromegaly/cushings & bitemporal hemianopia (worse in upper quadrants)
276
Idiopathic intracranial hypertension (IIH)
also knows as pseudo tumour cerebri, is a disorder of ↑ ICP in the absence of a mass lesion or hydrocephalus
classically affects young overweight/obese women of childbearing age, frequently in the context of weight gain
277
Risk factors for Idiopathic intracranial hypertension (IIH)
```
female sex
obesity
pregnancy
sleep apnoea
medications (COCP/POP, steroids, lithium)
```
278
Presentation of Idiopathic intracranial hypertension (IIH)
diffuse headache (generalised, throbbing, worst first thing in morning & last thing at night, relieved by standing, aggravated by coughing, straining)
visual symptoms (gradual visual field defects, bilateral papilloedema, blurred vision)
pulsatile tinnitus, drowsiness, N&V
279
Investigations for Idiopathic intracranial hypertension (IIH)
visual field testing
opthalmoscopy
MRI brain ± contrast
LP (↑ opening pressure (>20cm H2O), normal CSF analysis)
280
Management of Idiopathic intracranial hypertension (IIH)
weight loss
stop offending drugs
Medications:
1st line: acetazolamide ± furosemide
repeat LPs
281
Meniere's disease
An auditory disease due to impaired endolymph resorption in the inner ear leading to ↑ pressure & progressive dilation of the endolymph system
usually seen in middle age (40-50yrs)
282
Presentation of Menieres disease
recurring episodes of acute unilateral symptoms lasting minutes to hours
classical symptoms include tinnitus, peripheral vertigo, asymmetric fluctuating sensorineural hearing loss, sensation of aural pressure
nystagmus, +ve Romberg's test
283
Investigating Meniere's disease
audiometry (sensorineural hearing loss)
| consider MRI brain
284
Management of Menieres disease
must inform DVLA and seize driving until symptoms adequately controlled
acute attacks:
buccal/IM prochlorperazine/promethazine/cyclizine
Prevention:
betahistine & vestibular rehabilitation exercises
285
Alzheimers disease
chronic neurodegenerative disease with insidious onset & progressive slow decline, involved progressive degeneration of cerebral cortex
most common form of dementia
286
Risk factors for Alzheimers
```
age ↑
FH of demenita
low socioeconomic status
diabetes
obesity
dyslipidaemia
HTN
CVD
smoking
alcohol consumption
Down's syndrome
```
287
Genetics related to Alzheimers
Amyloid precursor protein (APP) gene
Presenilin 1
Presenilin 2
Apolipoprotein E (E2 = protective, E4 = ↑ risk of late onset dementia)
288
Pathophysiology of Alzheimers
extracellular senile plaque (neuritic plaques) mainly from type-A beta amyloid
intracellular neurofibrillary tangles made of hyperphosphorylated Tau protein
↓cholinergic function due to ACh deficiency secondary to cholinergic neurone degeneration
289
Presentation of Alzheimers
slow insidious onset over 7-10 years with progressive decline
characterised by language impairment (naming -> comprehension -> fluency)
episodic memory affected first
social facade maintained & certain skills retained e.g. hygiene
290
Management of Alzheimers
CBT
Therapies
support groups
Pharmacological:
1st line: acetylcholinesterase inhibitors e.g. donepezil, galantamine, rivastigmine
2nd line: memantine (NMDA receptor antagonist)
antidepressants
291
Vascular dementia
gradual cognitive decline cause by small/large vessel disease (CVD), a group of syndromes of cognitive impairment caused by ischaemia/haemorrhage
2nd most common form of dementia
NB rare inherited form with CADASIL
292
Vascular dementia
gradual cognitive decline cause by small/large vessel disease (CVD), a group of syndromes of cognitive impairment caused by ischaemia/haemorrhage
2nd most common form of dementia
NB rare inherited form with CADASIL
NB worse prognosis than alzheimers
293
Presentation of vascular dementia
abrupt cognitive decline & stepwise deterioration of cognitive function
may also present with focal neurological deficits or seizures
early presence of disrupted gait, unsteadiness, frequent unprovoked falls
294
Presentation of vascular dementia
abrupt cognitive decline & stepwise deterioration of cognitive function
may also present with focal neurological deficits or seizures
early presence of disrupted gait, unsteadiness, frequent unprovoked falls
295
Management of vascular dementia
general person centred care
no specific pharmacological treatment
treat cardiovascular risk factors
296
Lewy body dementia
clinical syndrome of progressive cognitive decline, characterised by inclusion bodies made of alpha-synuclei protein found intracytoplasmically
often co-exists with Alzheimers
3rd most common form of dementia
297
Presentation of lewy body dementia
progressive cognitive impairment with early impairment of attention & executive function rather than just memories like in Alzheimers
fluctuating course of cognitive impairment
Parkinsoninsm (bradykinesa, rigidity, poverty of facial expression, impaired gait)
visual disturbances, sleep disorders
298
Management of lewy body dementia
general pt entered care & therapy
avoid neuroleptics (may develop irreversible parkinsonism)
Pharmacological e.g. acetylcholineesterase inhibitors e.g. donepezil/rivastigmine or memantine
299
Frontotemporal lobar degeneration (FTLD)
progressive neurodegenerative disease of the frontal & temporal lobes, with atrophy following a lobar distribution, characterised by intracellular inclusion bodies (Pick bodies) due to mutations in Tau protein
Subtypes include:
frontotemporal dementia (Pick's disease)
Progressive non-fluent aphasia (chronic progressive aphasia)
Somatic dementia
typically younger onset than Alzheimers i.e. <65yrs
300
Presentation of Frontotemporal lobar degeneration (FTLD)
onset usually <65yrs
insidious onset & gradual progression (quicker progression than Alzheimers)
relatively preserved memory & visuospatial skills
early changes in personality & behaviour, often presenting as inability to adhere to social etiquette
301
Management of Frontotemporal lobar degeneration (FTLD)
SSRIs for behavioural symptoms
atypical antipsychotics for serve behavioural disturbance
dementia drugs e.g. AChE inhibitors or memantine are not recommended
302
Neuromyelitis optica
immune mediated chronic inflammatory disorders primarily affecting optic nerve & spinal cord, a demyelinating & necrotising disease
more common in asian population
onset age 40-60
303
Presentation of neuromyelitis optica
closely resembles MS
recurrent attacks with stepwise degeneration & deterioration but no progression between attacks
optic neuritis (often bilateral), impaired vision, retrobulbar pain, transverse myelitis (symmetric paraplegia, sensory loss, bladder dysfunction)
Investigations:
serology for antiaquaporin 4 (AQP4) +ve
MRI head/spine (normal cranial nerve but optic nerve & spinal cord lesions)
304
Management of neuromyelitis optica
high dose corticosteroids
plasmapheresis if severe
immunotherapy
305
Spinocerebellar ataxia
group of progressive neurodegenerative diseases of genetic origin, mostly inherited in an autosomal dominant fashion (generally due to trinucleotide expansion)
SCA3 most common type world wide
306
Presentation of spinocerebellar ataxia
cerebellar ataxia (progressive gait ataxia leading to broad based gait, progressive limb ataxia, dysarthria, tremors, explosive speech, intention tremors, dysdiadochokinesia, dysmetria, nystagmus)
ocular dysfunction
CLINICAL diagnosis
307
Friedreich ataxia
autosomal recessive disorder involving a trinucleotide expansion (GAA repeat on chromosome 9) leading to progressive neurodegeneration and also effects the heart
most common inherited ataxia in UK
age of onset age 8-15
308
Presentation of Friedreich ataxia
progressive ataxia (impaired coordination of muscles) of all limbs
gait ataxia, action & intention tremor of arms
spastic paralysis
nystagmus
dysarthria
bladder dysfunction
hearing loss
optic atrophy
impaired proprioception & vibration sense
loss of deep tendon reflexes
scoliosis & foot deformities
concentric hypertrophic cardiomyopathy
309
Investigating Friedreich ataxia
```
trinucleotide expansion assay
ECG (ventricular hypertrophy, T-Wave inversion)
Echo (hypertrophy)
MRI brain & spinal cord
Nerve conduction studies
```
310
Creutzfeldt-Jakob diese (CJD)
neurodegenerative condition caused by misfolded protein particles (prions), very rare
presents with dementia (rapid onset), myoclonus, myoclonic jerk, cerebellar disturbances, ataxia, seizures, autonomic nervous dysregulation
311
Insomnia
difficulty initiating or maintaining sleep or early morning awakening that leads to dissatisfaction with sleep quality or quantity
thought to affect ~1/3 of the population
causes include poor sleep hygiene, subclinical mood/anxiety disorders
acute <3 months
chronic ≥3 months
312
Presentation of insomnia
↓ daytime functioning
↓ periods of sleep (delayed onset/awakening at night)
non-restorative sleep
daytime napping
313
Risk factors for insomnia
```
female gender
older age
chronic pain/medical conditions
alcohol/substance misuse
poor sleep hygiene
life stresses
stimulant use
```
314
Investigating insomnia
```
history
Epworth sleepiness scale
Pittsburgh sleep quality index
sleep diary
TFTs
polysomnogaphy
```
315
management of insomnia
sleep hygiene (fixed bed times, no screentime before bed, no stimulants/alcohol 4-6h before bed, regular exercise)
CBT
Pharmacological:
benzos (short acting e.g. temazepam)
Z drugs e.g. zopiclone, zolpidem
melatonin (prolonged release)
316
Narcolepsy
neurological disorder of the sleep-wake cycle that effects control of sleep & wakefulness with rapid eye movement intrusion into wake state
may occur with or without cataplexy (sudden loss of muscle tone & power in response to strong emotions)
onset usually in adolescence
317
Presentation of narcolepsy
```
excessive daytime sleepiness (hypersomnolence)
cataplexy
sleep paralysis
hypnagogic/hypnopompic hallucinations
automatic behaviour
chronic fatigue/tiredness
poor memory & concentration
```
318
Investigating narcolepsy
actigraphy & sleep diary
overnight polysomnography
Hepworth sleepiness scale
EEG
319
Management of narcolepsy
must inform DVLA & only drive if symptoms sufficiently controlled
advice good sleep hygiene
strategic daytime naps
Pharmacological:
daytime stimulates e.g. modafenil (1st line), methylphenidate (2nd line)
SSRIs for sleep paralysis & hallucinations
nightime sodium oxybate (1st line for cataplexy)
320
Parasomnias
undesirable sleep related events that may occur during sleep or during transition into/out of sleep
321
sleepwalking disorder
NREM related parasomnia characterised by walking/performing other activities during first 1/3 of sleep cycle
322
Sleep terror disorder
NREM related, occurring in NJ sleep take (slow-wave sleep) characterised by episodes of sleep terrors, causes extreme panic, loud screams & movements with sudden arousal
323
Nightmare disorder
REM sleep related, characterised by recurrent nightmares, with complete alertness & recall of dream on waking
324
REM sleep behaviour disorder
REM-sleep related, chracterised by dream enactment due to loss of REM sleep atonia, usually seen in older pts
325
Restless leg syndrome
constant involuntary irritation of legs causing movement on retiring to bed leading to insomnia
326
Benign paroxysmal positional vertigo (BPPV)
peripheral vestibular disorder manifesting as sudden short lived episode of vertigo elicited by specific head movements, thought to be due to dislodging of otoconia which migrate into one of the semicircular canals disrupting endolymph dynamics
one of the most common causes of vertigo
commonly presents around age 50
327
Presentation of BPPV
episodic vertigo (spinning sensation): sudden (paroxysmal) recurring attacks, lasting several seconds (<1 min) triggered by certain head movements
nystagmus, N&V, falls
Triggers include: lying down/standing up, rolling over in bed, bending forwards
328
Investigating BPPV
provoking manoeuvres : Dix-Hallpike manoeuvre (positional vertigo + nystagmus triggered)
upbeat nystagmus = posterior canal
downbeat nystagmus = anterior canal
329
Treating BPPV
Epley manoeuvre
generally self limiting over several weeks
330
Delirium
a neurocognitive disorder characterised by impairments in attention & awareness as well as other cognitive disturbances
very common especially in elderly
subtypes:
- hypoactive: apathy & quiet confusion present
- hyperactive: agitation, delusion, disorientation prominent
- mixed
331
Predisposing factors of delirium
```
Age >65
background of dementia
significant injury e.g. NOF
frailty
multimorbidty
polypharmacy
male sex
substance/alcohol misuse
```
332
Aetiology of delirium
```
acute infection (UTIs & pneumonia)
metabolic states (e.g. hyper/hypoglycaemia, dehydration)
severe pain
constipation
postoperative
```
333
Presentation of delirium
```
acute alteration in level of awareness & attention
hallucinations
cognitive deficits
emotional lability
agitation
confusion
combativeness
abnormalities in sleep wake cycle
```
fluctuating course
334
Investigating delirium
```
Bloods (FBC/U&Es/LFTs/TFTs/Vit B12/Folate/CRP)
urine dipstick
urine MC&S
blood cultures
CXR
ECG
```
335
Management of delirium
treat underlying cause
environmental modifications
pharmacological (haloperidol or olanzepine)
336
Glasgow coma scale Eye component
```
out of 4
4 = spontaneous opening
3 = opening to voice
2 = opening to pain
1 = no response
```
337
Glasgow coma scale verbal component
```
out of 5
5 = orientated response
4 =confused response
3 = random words
2 = random sounds
1 = no response
```
338
Glasgow coma scale motor component
```
out of 6
6 = obeys command
5 = purposeful movements to pain
4 = withdraws from pain
3 = flexor response (decorticate)
2 = extensor response (decerebrate)
1 = no response
```
339
CT head injury within 1h criteria
```
GCS <13 initially
GCS <15 at 2h post injury
suspected open/depressed skull fracture
signs of basal skull fracture
post-traumatic seizure
focal neurological deficits
>1 episode of vomiting
```
340
CT head injury within 8h criteria
adults with retro/anterograde amnesia or some LOC with the following risk factors: (age >65, history of bleeding/clotting disorder, dangerous mechanism of injury, >30min retrograde amnesia of events just before head injury)
pt on warfarin even if no other indication
341
Upper motor neuron (UMN) lesion
lesions of the descending motor pathways usually the anterior horn cells
Muscle appearance:
absent atrophy, absent fasciculations
characteristics :
central paresis (spastic paresis): inability to voluntarily move muscles + hypertonia, spasticity, clonus, hyperreflexia, ↓power in muscle groups
upgoing (positive) babinksi sign
detrusor hyperreflexia
Aetiology:
MS, tumours, stroke, ALS
342
Lower motor neuron (LMN) lesion
lesions anywhere along the nerve fibres between anterior horn of spinal cord & relevant muscle tissue
Muscle appearance:
atrophy & fasciculations
```
characteristics :
peripheral paresis (flaccid paresis): inability to voluntarily move muscles + hypotonia, hyporeflexia/areflexia, ↓power in single muscle fibre
downgoing (negative) babinksi sign
overflow incontinence
```
Aetiology:
peripheral neuropathies, ALS
343
Horner syndrome
a neurological disorder charcterised by a symptoms triad of miosis, partial ptosis, facial anhidrosis & enopthalmos
344
Facial nerve palsy
partial or complete CN VII dysfunction
aetiology:
idiopathic (if acute unilateral facial nerve plays = Bells palsy (most common in pregnant women), LMN palsy)
trauma, HZV, sarcoidosis, acoustic neuroma, HIV, stroke
Presentation:
LMN palsy: ipsilateral paralysis of all facial muscles
UMN palsy: contralateral forehead sparing paralysis
both present with mouth drooping, dry mouth, ↓ lacrimation
345
Broca's aphasia (motor/expressive aphasia)
lesions to Broca's area in inferior forntal gyrus
results in non fluent speech
telegraphic & grammatically incorrect speech
impaired repetition
comprehension largely spared
pt typically aware of deficit & frustrated by it
346
Wenicke's aphasia (sensory/receptive aphasia)
lesion to Wernicke's area in superior temporal gyrus
results in fluent speech that lacks sense (word salad, paraphasic errors, neologisms)
comprehension impaired
impaired repetition as well as impaired reading & writing
pt typically unaware of deficit
347
Conduction aphasia
lesions to arcuate fasciculus in parietal lobe
mostly intact comprehension & fluent speech production
impaired repetition with paraphasia (pt substitutes sounds & try to correct their own mistakes)
348
Global aphasia
lesions to Broca's & wernicke's & arcuate fasiculus
non fluent speech
severe impairment of speech production & comprehension
pt may be mute & only utter sounds
inability to comprehend speech
349
Prechiasmal lesions of optic tract
produce an ipsilateral field deficit in one eye
often effect visual acuity
causes include optic neuritis, optic atrophy, glaucoma, trauma
350
Chiasmal lesions
typically cause bitemporal hemianopia
if lesion spreading from above e.g. cranipharyngioma then worse in lower quadrants
if lesion spreading from below e.g. pituitary tumour then worse in upper quadrants
351
Retrochiasmal lesions
produce homonymous (matching) defects
lesions on right optic tract will cause lesion in left visual field and vice verca
352
Lesion to main optic radiation/optic peduncle
e.g. MCA stroke
causes homonymous hemianopia without macular sparing
353
Lesions to temporal radiation
upper quadrant homonymous hemianopia
354
Lesions to parietal radiation
inferior quadrant homonymous hemianopia
355
Lesions to anterior visual cortex
e.g. PCA occlusion
contralateral homonymous hemianopia with macular sparing
356
differentiating between organic and non-organic lower leg weakness
Hoover’s sign
This is based on the concept of synergistic contraction. If a patient is genuinely making an effort, the examiner would feel the 'normal' limb pushing downwards against their hand as the patient tries to lift the 'weak' leg. Noticing this is indicative of an underlying organic cause of the paresis. If the examiner, however, fails to feel the 'normal' limb pushing downwards as the patient tries to raise their 'weak' leg, then this is suggestive of an underlying functional weakness, also known as 'conversion disorder'.
357
Prophylaxis for contacts of pts with meningococcal meningitis
Prophylaxis = oral ciprofloxacin
358
Essential tremor
Essential tremor (previously called benign essential tremor) is an autosomal dominant condition which usually affects both upper limbs
postural tremor: worse if arms outstretched, tremor is better at rest
most common cause of titubation (head tremor)
treatment: reduce caffeine intake, propranolol or primidone
359
Complications of subarachnoid haemorrhages
Vasospasm ~ 7-14 days after SAH
SIADH (hyponatraemia)
360
Treatment of subarachnoid haemorrhage
Nimodipine (to prevent vasospasm)
Interventional radiology to treat aneurysms (within 24h due to high rebleeding risk)
transfer to specialist centre within 24h
labetolol for tight BP control
361
Side effects of ergot derived dopamine agonists
bromocriptine or cabergoline
associated with pulmonary/cardiac/retroperitoneal fibrosis
362
Most common cause of viral encephalitis
Herpes simplex virus
363
Most common cause of viral meningitis
Enteroviruses e.g. cocksackie
