neurology Flashcards
(161 cards)
1
Q
define TIA
A
transient neurological dysfunction secondary to ischaemia without infarction
2
Q
crescendo TIA
A
2 or more TIAs within a week
high risk of stroke
3
Q
when should you suspect a vascular accident?
A
sudden onset of neurological symptoms
typically asymmetrical
weakness of limbs, facial weakness, dysphasia, visual or sensory loss
4
Q
FAST tool for identifying stroke in the community
A
Face, Arm, Speech, time to call 999
5
Q
ROSIER tool for recognition of stroke in A&E
A
based on clinical features and duration
stroke is likely if score is above 0
6
Q
ABCD2 score for TIA
A
estimate risk of having stroke after a suspected TIA
high score means high risk of stroke within 48 hours
Age >60 =1
Blood pressure >140/90 =1
Clinical features (unilateral weakness=2, dysphasia without weakness=1)
Duration (>60 min =2, 10-60 min=1, <10min=0)
Diabetes =1
7
Q
management of stroke
A
admit to stroke centre
exclude hypoglycaemia
immediate CT brain to exclude primary intracerebral haemorrhage
Aspirin 300mg Stat and continued for 2 weeks
do not lower BP- this risks reducing brain perfusion
8
Q
thrombolysis with alteplase
A
can be used after CT has excluded haemorrhage
tissue plasminogen activator rapidly breaks down clots and can reverse the effects of a stroke
needs to be given within 4.5 hours
need monitoring for complications such as intracranial or systemic haemorrhage, including repeat CT brains
9
Q
management of TIA
A
aspirin 300mg daily
secondary prevention for CVD (atorvastatin 80mg)
if crescendo TIA, need to be seen within 24 hours by specialist
10
Q
outcome of ABCD2 score
A
3 or less- specialist within a week
more than 3- specialist review within 24 hours
11
Q
imaging in stroke
A
CT brain to exclude haemorrhage
diffusion weighted MRI to establish vascular territory affected
carotid ultrasound to assess for carotid stenosis. (endarterectomy to remove plaque or carotid stunting to widen the lumem may be considered)
12
Q
secondary prevention of stroke
A
clopidogrel 75mg OD (or dipyridamole 200mg BD)
atorvastatin 80mg (delayed until after acute treatment)
carotid endartectomy or stenting?
treat HTN and DM
13
Q
stroke rehab team
A
nurses, SALT, nutrition, physio, OT, social services, optometry and ophthalmology, psychology, orthotics
14
Q
what % of strokes are bleeds?
A
10-20%
15
Q
risk factors for brain haemorrhage
A
head injury HTN aneurysms ischaemic stroke can progress (infarcted tissue can bleed) brain tumours anticoagulants
16
Q
presentation of intracerebral bleeds
A
Sudden onset headache Seizure Weakness vomitting reduced consciousness sudden onset neurology
17
Q
GCS
A
Eyes (1-4)
Best verbal responce (1-5)
best motor responce (1-6)
at 8/15 consider securing the airway
18
Q
subdural haemorrhage
A
bridging veins in outermost meningeal layer
between dura and arachnoid
crescent shape (banana)
not limited by cranial sutures
elderly & alcoholic (atrophy of brain stretches vessels)
19
Q
extradural haemorrhage
A
rupture of middle meningeal artery in the tempura-parietal region
associated with fracture of temporal bone
between skull and dura matter
bi-convex and limited by cranial sutures
young pt with TBI, ongoing headache. Lucid interval followed by rapid decline as haematoma expands
20
Q
intracerebral haemorrhage
A
bleeding into brain tissue, presents similar to ischaemic stroke:
-lobar intracerebral
- deep intracerebral
- intraventricular
-basal ganglia
-cerebellar
can occur spontaneously or as a result of bleeding into an ischaemic infarct
21
Q
subarachnoid haemorrhage
A
bleeding into subarachnoid space where CSF is located (between arachnoid and Pia matter)
usually ruptured cerebral aneurysm
sudden onset occipital headache, during strenuous activity (weight lifting). ‘thunderclap’
associated with cocaine and sickle cell anaemia
22
Q
management of haemorrhage
A
imidiate CT check FBC and clotting admit to specialist stroke unit discuss with neurosurgery consider intubation, ventilation and ICU if consciousness is reduced correct any clotting abnormally correct severe HTN, but avoid htn
23
Q
features of SAH
A
thunderclap headache, back of head
neck stiffness
photophobia
neurology: visual, speech, weakness, seizure, loss of consciousness
24
Q
RF for SAH
A
HTN smoking alcohol cocaine family history, marfans, sickle cell, EDS, neurofibromatosis black, female, 45-70yo
25
CT head in SAH
hyperattenuation in the subarachnoid space
may be normal
LP if CT is negative:
- RCC will be raised (take multiple bottles and label them- the first one may be highest due to traumatic LP)
- Xanthochromia (yellow due to bilirubin)
26
angiography in SAH
CT or MRI angiography can be used once SAH is confirmed to locate source of bleeding
27
management of SAH
specialist neurosurgical unit
reduced consciousness may require ICU
supportive care with MDT
surgery: coiling (end-vascular approach) or clipping (cranial surgery)
- nimodipine (CCB, prevent vasospasm which is a common complication leading to ischaemia following SAH)
- LP or shunt can treat hydrocephalus
Antiepileptic if seizure
28
what is MS
chronic progressive demyelination of neurones in CNS
| caused by inflammatory process involving immune cells against myelin
29
who does MS affect
most common in <50 women
| symptoms tend to improve in pregnancy and postpartum
30
pathophysiology of MS
(Schwann cells make myelin in PNS)
Oligodendrocytes make myelin in CNS. inflammation around myelin and infiltration of immune cells causes damage to myelin. affects propagation of electrical signals.
can present as 'attacks' for example optic neuritis, at this stage there is usually areas of demyelination elsewhere which aren't causing symptoms
in early disease, re-myelination can occur and symptoms resolve. in later disease, remyelination is incomplete and symptoms gradually become more permanent
31
characteristic feature of MS
lesions vary in location over time
| 'disseminated in space and time'
32
causes of MS
```
genes
EBV
low vitamin D
smoking
obesity
```
33
signs and symptoms of MS
usually progress over more than 24 hours
at first presentation, symptoms last days to weeks and then improve
-optic neuritis (most common MS presentatio)
- eye movement abnormalities (double vision due to CN6 lesions- intranuclear opthalmoplagia and conjugate lateral gaze disorder)
-facial weakness
-focal sensory symptoms
-ataxia
34
unilateral CN6 lesions
intranuclear opthalmoplagia (nerve fibres connecting the cranial nerve nuclei that control eye movements)
35
Conjugate lateral gaze disorder
lesions in CN6
| when looking laterally in direction of affected eye, affected eye cannot abduct.
36
causes of facial weakness in MS
Bells palsy
Horners syndrome
Limb paralysis
incontinence
37
focal neurological symptoms in MS
trigeminal neuralgia
numbness
parenthesis (pins and needles)
Lhermitte's sign
38
Lhermitte's sign
electric shock sensation that travels down spine into the limbs when flexing neck
indicates disease in cervical cord in dorsal column
causes by stretching of demyelinated dorsal column
39
ataxia in MS
- sensory - due to loss of proprinocetion (positive rombergs, pseudoathetosis)
- cerebellar
40
MS disease patterns
- clinically isolated syndrome
- relapsing remitting
- secondray progressive
- primary progressive
41
clinically isolated syndrome
first episode of demyelination and neurological signs and symptoms
MS cannot be diagnosed ad the lesions are not disseminated in time and space
may never have another episode or may develop MS
if lesions are seen on MRI, more likely to progress to MS
42
relapsing remitting MS
most common at initial diagnosis
neurological symptoms followed by recovery:
- active (new symptoms/new lesions)
-not active (no new symptoms or MRI lesions developing)
- worsening (overall worsening in disability over time)
- not worsening
43
secondary progressive MS
initially remitting and relapsing, but now progressing with incomplete remissions
symptoms becoming more permanent:
- active
- not active
- progressing (overall worsening regardless of relapses)
- not progressing
44
primary progressive MS
worsening of disease and neurological symptoms from the point of diagnosis without initial relapse or remissions
active and or progressing
45
diagnosing MS
neurologist
based on clinical picture and symptoms suggesting lesions that change location over time
symptoms must be progressive for 1 year to diagnose primary progressive MS
other causes of symptoms excluded
investigations may be used to support diagnosis:
- MRI scan can demonstrate demyelinating lesions
- LP can detect oligoclonal bands in the CSF
46
optic neuritis
unilateral reduced vision developing over hours to days:
- central scotoma (enlarged blind spot)
- opthalmoplagia
- impaired colour vision
- Relative afferent pupillary defect
47
causes of optic neuritis
```
MS
sarcoidosis
SLE
syphilis
measles
mumps
Lyme disease
```
48
management of optic neuritis
urgent ophthalmology assessment
steroids
recovery takes 2-6 weeks
50% of patients with a single episode of optic neuritis will develop MS within 15 years
changes on MRI can help predict which patients will go on to develop MS
49
management of MS
-MDT- neurologists, specialist nurses, physio, OT
-disease modification- disease modifying drugs and biologic auto induce long term remission and no evidence of disease activity
target interleukins, cytokines and immune cells.
-treating relapses- methylprednisolone 500mg orally 5/7 or 1g IV for 3-5 days where oral treatment has previously failed/severe relapse
50
MS symptomatic treatments
- exercise to maintain strength
- neuropathic pain managed with amytripliine or gabapentin
- depression with SSRIs
- urge incontineve with tolteridine or oxybutynin (although these can cause cognitive impairment)
- spasticity with baclofen, gabapentin and physio
51
what is motor neurone disease?
progressive, ultimately fatal condition where the motor neurones stop functioning. no effect on sensory neurones
52
types of MND
Amylotropic lateral sclerosis- most common
Progressive bulbar palsy- second most common. primarily affects muscles of talking and swallowing.
progressive muscular atrophy
primary lateral sclerosis
53
pathophysiology of MND
degeneration of upper and lower motor neurones with sparing of sensory neurones
genetic component (5-10% are inherited)
increased risk with smoking, heavy metals and pesticides
54
presentation of MND
man >60
affected relative
insidious, progressive weakness of muscles throughout limbs, trunk, face and speech
often first noticed in arms
fatigue
clumsiness, dropping things, tripping over
dysphasia
LMN signs: muscle wasting, reduced tone, fasciculation's, reduced reflexes
UMN signs: increased tone or spasticity, brisk reflexes, upgoing planters
55
diagnosing MND
clinical presentation
exclude other causes
specialist
56
management of MND
aims to halt progression
Riluzone can slow progression
NIV used at home to support breathing at night
MDT approach
advance directives to document patient wishes
End of life care
57
how do people die with MND?
usually respiratory failure or pneumonia
58
Parkinsons disease pathophysiology
progressive reduction od dopamine in basal ganglia leading to a disorder of movement
asymmetrical symptoms
- resting tremor
-rigidity
-bradykinesia
*dopamie is produced by substancia nigra in basal ganglia
59
how does Parkinson's disease present?
man >70
unilateral tremor, 4-6Hz, pill rolling at rest (improves with movement). tremor worsened is patient is distracted.
cog wheeling rigidity- resistance to passive movement (tension which gives way to movement in small increments)
60
what is bradykinesia?
```
movements are smaller and slower:
micrographic
Shuffling gait with small steps
difficulty initiating movement
difficulty when turning around when standing
hypomimia (mask like facies)
```
61
other features of Parkinson's
```
depression
insomnia
anosmia
postural instability (difficulty standing in one place)
cognitive and memory impairment
```
62
features of benign essential tremor
symmetrical, 5-8Hz, improves at rest, worse with intentional movement, improves with alcohol
63
parkinsons plus syndromes
multiple system atrophy
dementia with levy body
progressive supra nuclear palsy
corticobasal degeneration
64
multiple system atrophy
rare
degeneration of neurones in multiple systems including basal ganglia
parkinsons features, autonomic dysfunction (postural hypotension, constipation, abnormal sweating, sexual dysfunction, cerebellar dysfunction
65
dementia with lewy body
dementia with features of Parkinsonism
progressive cognitive decline
visual hallucinations, delusions, disorders of REM sleep and fluctuating consciousness
66
diagnosing parkinsons
clinical based on symptoms and examination
| made by specialist using UK parkinsons disease society brain bank clinical diagnostic criteria
67
dopamine preparations
```
levadopa is a synthetic dopamine
combined with peripheral decarboxylase inhibitors to make carbidopa and benserazide
combination drugs:
Co-benyldopa (levodopa and benserazide)
Co-careldopa (levodopa and carbidopa)
```
68
when is levodopa used?
vert effective for symptoms but becomes less effective over time, reserved for when other treatments are not managing symptoms
69
levodopa SE
too high leads to dyskinesias (abnormal movements with excessive motor activity)
eg Dystonia (excessive muscle contraction leading to abnormal postures and exaggerated movements)
Chorea (abnormal involuntary movements which are jerky and random)
Athetosis (involuntary twisting and writhing movements in fingers hands and feet)
70
COMT inhibitors
Eg Entacapone
inhibits Catechol-o-methyltransferase (metabolises levodopa in body and brain)
taken with levodopa to slow breakdown and extend duration of action
71
dopamine agonists
stimulate dopamine receptors in the basal ganglia
less effective
used to delay use of levodopa or with levodopa to reduce dose
eg bromocryptine, pergolide, carbergoline
72
SE of dopamine agonists
pulmonary fibrosis
73
Monoamine Oxidase B inhibitors
reduce the breakdown of dopamine to delay use of levodopa
eg selegiline
Rasagiline
74
What is a benign essential tremor?
fine tremor affecting all the voluntary muscles, most evident in hands but can also have head, jaw and vocal tremor
common with ageing
fine, symmetrical, more evident on movement, worse tired/stressed/after caffeine, improved by alcohol, absent during sleep
75
how is benign essential tremor diagnosed?
clinically based on presenting features
| differentials to consider: parkinsons, MS, huxngtingtons, hyperthyroidism, fever, medications (antipsychotics)
76
management of benign essential tremor
does not generally require treatment
| Propranolol or Primidone (a barbiturate anti epileptic medication) may improve symptoms
77
what is epilepsy?
a group of conditions with tendency to have seizures.
| seizures are transient episodes of abnormal electrical activity in the brain
78
investigations in epilepsy
EEC- can show typical patterns of different forms of epilepsy and support diagnosis
MRI brain- diagnose structural problems associated with seizures
79
features of generalised tonic clonic seizures
loss of consciousness and tonic (muscle tensing) and clonic (muscle jerking) episodes. typically tonic, then clonic. may be associated tongue biting, inconticence, groaning and irregular breathing
prolonged post octal phase of drowsiness, irritability or depression
80
management of TC seizures
1- SV
| 2- lamotrigine or carbamazepine
81
features of focal seizures
start in temporal lobe
affect hearing, speech, memory and emotions
can present as hallucination, memory flashbacks, dejavu, doing strange things on autopilot
82
management of focal seizures
1- lamotrigine or carbamazepine
| 2- SV or levetiracetam
83
absence seizures features and management
typically children,
blank, stare into space, abruptly return to normal
unaware of surroundings and won't respond
10-20 seconds
>90% settle with age
1- SV or ethosuximide
84
atonic seizures features and management
```
drop attacks
brief lapses in muscle tone <3 minutes
typically begin in childhood
may be part of Lennox-Gestaut syndrome
1-SV
2- Lamotrigine
```
85
myoclonic seizures features and management
sudden brief muscle contractions
usually remain awake
may be part of juvenile myoclonic epilepsy
1- SV
2- lamotrigine, levetiracetam or topiramate
86
infantile spasms
```
aka West syndrome
1 in 4000
full body spasms starting at 6 months
1/3 die before 25, 1/3 are seizure free
1- prednisolone, Vigabatrin
```
87
SV MOA and SE
MOA- increase GABA activity therefore relax brain
| SE: teratogenic, Liver damage, hepatitis, hair loss, tremor
88
Carbamazepine SE
first line for focal seizures
| SE: agranulocytosis, aplastic anemia, induce P450
89
phenytoin SE
folate and vitamin D deficiency leading to megaloblastic anaemia and osteomalacia
90
SE of ethosuximide
night terrors
| rash
91
lamotrigine SE
SJS or dress syndrome (life threatening skin rash)
| leukopenia
92
status epilepticus definition
seizure lasting >5 minutes or >3 seizures in 1 hour
93
management of status epilepticus
```
secure airway
high concentration oxygen
assess cardiac and respiratory function
check blood glucose
4mg IV lorazepam
repeat lorazepam after 10 minutes
phenytoin/phenobarbital infusion
```
(in community: buccal modazolam or rectal diazepam)
94
causes of neuropathic pain
```
shingles (post herpetic neuralgia)
nerve damage from surgery
MS
diabetic neuralgia (feet)
trigemnial neuralgia
complex regional pain syndrome (CRPS)
```
95
features of neuropathic pain
burning, tingling, pins and needles, electric shocks, loss of sensation to touch in affected area
96
how can you determine if pain is neuropathic?
DN4 questionnaire
| >4/10 indicated neuropathic pain is likely
97
first line treatments for neuropathic pain
amytriptiline (TCA)
duloxetine (SNRI)
Gabapentin (anticonvulsant)
Pregabalin (anticonvulsant)
98
second line options for neuropathic pain
if all 4 first line medications have individually failed, try
tramadol as a rescue for short term control of flares
Capsaicin for localised pain
physio for strength
psychological input for understanding and coping
99
treatment of trigeminal neuralgia
1st- carbamazepine
| 2- refer to specialist
100
complex regional pain syndrome
neuropathic pain and abnormal sensation, usually to limb, often caused by injury
area can become very painful and hypersensitive (eg to clothes), may also intermittently swell, change in temperature, flush with blood or have abnormal sweating
manage by pain specialist as per neuropathic pain
101
route of facial nerve
exits the brainstem at the cerebellopontine angle
passes through the temporal bone and parotid gland
decides into 5 branches: temporal, zygomatic, buccal, marginal mandibular and cervical
102
functions of facial nerve 1. motor 2. sensory 3. parasympathetic
1. facial expression, stapedius, posterior digastric stylohyoid and platysma
2. taste from anterior 2/3 tongue
3. submandibular, sublingual and lacrimal glands
103
upper motor neurone lesions to the facial nerve
```
unilateral lesions spare the forehead due to bilateral innervation, must be referred urgently
strokes
tumours
bilateral upper motor neurone lesions:
pseudo bulbar palsies
motor neurone disease
```
104
bells palsy
idiopathic lower motor neurone facial nerve palsy. majority recover fully over several weeks (uo to 12 months). 1/3 are left with some residual weakness.
105
management of bells palsy
if present within 71 hours of symptoms, prednisolone 50mg for 10 days (or 60mg for 5 days, then reduce by 10 for 5 days)
lubricating eye drops
if eye pain- exposure keratopathy? opthalmology review
tape to keep eye closed at night
106
Ramsey Hunt syndrome
caused by Herpes zoster Virus
unilateral lower motor neurone facial lesions
painful and tender vesicular rash in ear canal, pinna and around ear. rash may extend to anterior 2/3 tongue and hard palate
if presents within 72 hours, treat with prednisolone and acyclovir
also require lubricating eye drops
107
other causes of lower motor neurone facial nerve palsy- infection
OM, Malignant OE, HIV, Lyme disease
108
other causes of lower motor neurone facial nerve palsy- systemic
diabetes, sarcoidosis, leukaemia, MS, Gullian Barre syndrome
109
other causes of lower motor neurone facial nerve palsy- tumours
acoustic neuroma, parotid tumours, cholesteatoma
110
other causes of lower motor neurone facial nerve palsy- direct trauma
direct nerve trauma
damage during surgery
base of skull fracture
111
frontal lobe lesions
may present as changes in personality and behaviour (higher level decision making)
112
signs of raised ICP
```
headache which is: constant
nocturnal
worse on waking
worse on coughing, straining or bending forward
vomiting
```
```
altered mental state
visual field defects
seizures (particularly focal)
unilateral ptosis
3rd and 6th nerve palsies
Papilloedema
```
113
Papilloedema
high pressure CSF can flow in to the optic nerve sheath causing:
blurring of optic disc margin
elevated optic disc (assessed by looking at retinal blood vessels across the disc)
loss of venous pulsation
engorged retinal veins
haemorrhages around optic disc
Patons lines- creases in retina around optic disc
114
which cancers commonly metastasise to the brain?
lung
breast
colorectal
prostate
115
what are gliomas?
glial cell tumours in brain and spinal cord.
graded 1-4.
1= benign, may be cured with surgery.
4= malignant (glioblastomas)
astrocytoma (most likely malignant, glioblastoma multiform most common)
oligodendroglioma
ependymoma
116
meningiomas
usually benign
| cause neurology bu raising ICP
117
pituitary tumours
usually benign
can press on optic chasm causing bitemporal hemianopia
may cause hypopituarism or release excess hormones leading to:
acromegaly
hyperprolactinaemia
bushings disease (ACTH)
thyrotoxicosis (TSH)
118
acoustic neuroma aka vestibular schwannoma
Schwann cell tumour around auditory nerve at the cerebellopontine angle
grow slowly
may be bilateral in neurofibromatosis type 2
triad of symptoms: hearing loss, tinnitus, balance problems
can also cause facial nerve palsy
119
managing brain tumours
surgery depending on grade and behaviour
palliative, chemotherapy, radiotherapy
treatment of pituitary tumours: trans-sphenoidal surgery, radiotherapy, bromocriptine to block prolactin, somatostatin analogies such as ocreotide to block GH
120
what is Huntington's chorea?
autosomal dominant
progressive deterioration in nervous system
usually asymptomatic until 30-50
trinucleotide repeat disorder involving mutation in HTT gene on chromosome 4
121
anticipation in huxngtingtons
this is a feature of trinucleotide repeat disorders
successive generations have more repeats of the gene, resulting in:
earlier age of onset
increased severity of disease
122
presentation of hungtingtons
insidious, progressive worsening of cognitive, psychiatric and mood problems. these are followed by movement disorder:
chorea (involuntary, abnormal movements)
eye movement disorders
speech difficulties (dysarthria)
swallowing difficulties (dysphagia)
123
diagnosing hungtingtons
genetic test at specialist genetic centre
| pre test and post test counselling
124
management of hungtingtons chorea
```
MDT (OT, physio, psychology)
SALT
Genetic counselling
advanced directives
end of life planning
medical treatment for symptomatic relief:
antipsychotics eg olanzapine
benzodiazepines eg diazepam
dopamine depleting agents eg tetrabenazine
treat depression
```
125
prognosis in hungtingtons chorea
progressive condition
life expectancy 15-20 years after diagnosis
death is usually from respiratory disease such as pneumonia
suicide common
126
what is myasthenia gravis
autoimmune muscle weakness worse with activity and improves with rest
usually affects women in 40s and men in 60s
strong link to thymoma (thymus gland tumour) (15% of patients with MG have thyoma, 30% of patients with thyoma will develop MG)
127
pathophysiology of MG
acetylcholine receptor antibodies (positive in 85% MG) bind postsynaptic neuromuscular junction receptors and block acetylcholine from binding. unable to trigger contraction. improves at rest as receptors are freed up
the antibodies also activate complement system within NMJ leading to damage to cells at postsynaptic membrane
15% of MG is due to antibodies against: muscle specific kinase (MuSK), low density lipoprotein related receptor protein 4 (LRP4). these are important proteins for creation and organisation of EACh receptor.
128
how does MG present?
weakness gets worse with muscle use and improves with rest
symptoms typically worst at end of day
affect proximal muscles and small muscles of head and neck:
diplopia (extra ocular muscle weakness causing double vision)
eyelid weakness causing ptosis
weakness in facial movements
difficulty with swallowing
fatigue in jaw when clenching
slurred speech
129
examination in MG
-repeated blinking will exacerbate ptosis
- prolonged upward gaze will exacerbate diplopia
- repeated arm abduction will result in unilateral weakness
check for thymectomy scar
test forced vital capacity (FVC)
130
how is MG diagnosed
85% will have ACh-R antibodies
10% will have MuSK antibodies
5% will have LRP4 antibodies
CT/MRI of thymus glad used to look for thyoma
edrophonium test can be helpful if diagnosis in doubt
131
edrophonium test
patients are given an IV dose of edrophonium chloride (or neostigmine). there are cholinesterase enzymes in the neuromuscular junction that break down acetylcholine. acetylcholine at neuromuscular junction increases, briefly and temporarily relieving weakness.
132
treatment of MG
- reversible acetylcholinesterase inhibitors (pyridostigmine or neostigmine)
- immunosuppression (prednisolone or azathioprine)
- thymectomy can improve symptoms even in pt without thyoma
- rituximab targets B cells, used if specific criteria are met
133
myasthenia crisis
severe complication of MG
acute worsening of symptoms, often triggered by another illness such as a respiratory tract infection.
can lead to respiratory failure as a result of weakness in the muscles of respiration.
may require NIV or BiPAP, or full intubation and ventilation
treat with IV immunoglobulins or plasma exchange
134
Lambert Eaton Myasthenia syndrome
similar presentation to G
progressive muscle weakness with increased use as a result of damage to the neuromuscular junction
symptoms are more insidious and less pronounced than MG
135
pathophysiology of Lambert eaton myasthenia syndrome
typically in small cell lung cancer
antibodies against voltage gated calcium channels produced in SCLC cells. these also target voltage gated calcium channels in presynaptic terminals of neuromuscular junction
voltage gated calcium channels responsible for releasing EACh into synapse, so there is less ACh being released
136
presentation of Lambert eaton myasthenia syndrome
slowly
proximal muscles affected first causing weakness
can affect intraocular muscles leading to diplopia, elevator muscles leading to ptosis and oropharyngeal muscles causing slurred speech and swallowing problems (dysphagia)
137
management of Lambert Eaton Myasthenia syndrome
manage the lung cancer
Amifampridine allows more ACh to be released bu blocking potassium gated channels in presynaptic cells, with prolongs depolarisation and assists calcium channels opening.
other options: immunosuppression, IV immunoglobulioma and plasmapheresis
138
What is Charcot-Marie-Tooth syndrome?
affects 1 in 2,500 people
inherited disease affecting inherited peripheral motor and sensory nerves. various types with different mutations.
dysfunction of axons or myelin.
usually autosomal dominant
symptoms usually start before 10, but can present up to the age of 40
139
classical features of Charcot Marie Tooth syndrome
High foot arches (per cavus)
Distal muscle wasting causing inverted champagne bottle legs
weakness in lower legs causing loss of ankle dorsiflexion
weakness in hands
reduced tendon reflexes
reduced muscle tone
peripheral sensory loss
140
causes of peripheral neuropathy
```
alcohol
B12 deficiency
Cancer and CKD
Diabetes and Drugs (isoniazid, amiodarone, cisplatin)
Every vasculitis
```
141
Management of Charcot Marie Tooth disease
supportive:
neurologists and geneticists make the diagnosis
physio to maintain muscle strength and range of motion
OT to assist with activities of daily living
Podiatrists (insoles, orthoses)
Orthpedic surgery
142
what is Guillian barre syndrome?
acute paralytic polyneuropathy
affects peripheral nervous system
causes acute, symmetrical ascending weakness and can also cause sensory symptoms.
usually triggered by infection: Campylobacter jejune, Cytomegalovirus and Epstein Barr virus
143
pathophysiology of GBS
due to molecular mimicry- B cells create antobides against pathogen antigens. these match proteins on nerve cells. they may target proteins on myelin sheath of the motor nerve cell or the nerve axon itself.
144
presentation of GBS
symmetrical ascending weakness (starting at feet and moving up the body)
reduced reflexes
peripheral loss of sensation or neuropathic pain
may progress to cranial nerves and cause facial nerve weakness
145
course of GBS
symptoms usually 4 weeks after infection
start in feet progress up
peak within 2-4 weeks
recovery from this point takes months-years
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diagnosing GBS
clinical diagnosis
Brighton criteria may be used
investigations may help:
Nerve conduction studies (reduced signal through thee nerves)
LP for CFS (raised protein, normal cell count and glucose)
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management of GBS
IV immunoglobulins
plasma exchange
supportive
VTE prophylaxis (PE is the leading cause of death)
respiratory failure may require intubation, ventilation, admission to ITU
148
prognosis in GBS
80% fully recover
15% left with some neurological disability
5% will die
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what is neurofibromatosis?
genetic condition which causes neuromas to develop throughout nervous system
these are benign tumours which cause neurological and structural problems
NF type 1 is more common than type 2
150
NF1 gene
chromosome 17
codes for ceurofibromin (tumour supressor protein)
autosomal dominant
151
criteria for neurofibromatosis 1
must have 2 or more out of 7:
Cafe au lit spots (>6 measuring >5mm in children or >15mm in adults)
Relative with NF1
Axillary or inguinal freckles
Bony dysplasia such as Bowing of long bone or sphenoid wing dysplasia
Iris hamartomas (Lisch nodules, 2 mor more) yellow brown spots on iris
Neurofibromatomas (2 or more)
Glioma of optic nerve
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Investigations in neurofibromatosis 1
diagnosis is based on clinical criteria
genetic testing if in doubt
X ray bone lesions and pain
CT/MRI can be used to investigate lesions in brain, spinal cord or elsewhere
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management of neurofibromatosis 1
control symptoms
monitor disease
treat complications
154
complications of neurofibromatosis 1
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migrane
epilepsy
renal artery stenosis and HTN
ADHD
scoliosis
optic nerve glioma loss of vision
malignant peripheral nerve sheath tumours
gastrointestinal stromal tumours
brai nounours
spinal cord tumours with neurology eg paraplegia
increased breast cancer risk
leukaemia
```
155
gene in NF2
```
chromosome 22
codes for merlin, tumour supressor protein
important in Schwann cells
development of schwannomas
autosomal dominant
```
156
main points about NF2
associated with bilateral acoustic neuromas (hearing loss, tinnitus, balance problems)
schwannomas in brain and spinal cord
surgery to resect tumours, risk of permanent nerve damage
157
what is tuberous sclerosis?
genetic condition that causes symptoms in multiple systems
Hamartomas (neoplastic growths) in skin, Brian, lungs, heart, kidneys and eyes
mutations in:
- TSC1 gene (hamartin)
- TSC2 gene (tuberin)
these proteins control size and growth of cells
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skin signs of tuberous sclerosis
ash leaf spots (depigmented leaf shaped spots)
Shagreen watches (thickened, dimpled, pigmented)
angiofibromas (skin coloured or pigmented papule over nose and cheeks)
Aubungual fibromata (fibromas growing from nail bed, painless lumps which displace the nail)
Cafe au lait spots
Poliosis (isolated patch of white hair)
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neurological features of tuberous sclerosis
epilepsy
learning disability
developmental delay
160
other features of tuberous sclerosis
```
Rhabdomyomas in heart
Gliomas (brain and spinal cord)
polycystic kidneys
Lymphangioleimyomatosis (abnormal growth in smooth muscles cells, affecting lungs, causes SOB, chest pain, heamoptysis and pneumothorax)
Retinal hamartomas
```
161
presentation of tuberous sclerosis
child
epilepsy
skin features
(can also present in adulthood)
