Neurology Flashcards
Most common cause of dementia
alzheimers
then
vascular
lewy body
What is Alzheimers?
risk factors-
progressive degnerative disease of the brain.
- age
- fhx
- autosomal dominant 5% - amyloid precursor protein (chr21), presenlin 1 (chr 14) , presenilin 2 (chr 1)
- apoprotein E allele E4 - encodes cholestrol transport protein
- caucasian
- downs
Pathological Changes of Alzheimers
macroscopic:
- widespread cerebral atrophy, involves more the cortex and hippocampus
Microscopic:
- Cortical plaques due to deposition of type A beta-amyloid protein and intraneuronal neurofibrillary tangles caused by abnormal aggregation of tau protein.
- hyperphosphorylation of tau protein - linked to AD
biochemical:
- deficit of acetylcholine from damage to ascending forebrain projection
What are neurofibrillary tangles?
(Alzheimer’s)
- paired helical filaments partly made from tau protein
tau = protein interacts with tubulin stabilising microtubules and promoting tubulin assembly into microtubules.
AD: tau proteins hyperphosphorylated = impaired function
How would you manage Alzheimers?
non pharm:
- cognitive stimulation therapy
- cognitive rehab
- group reminiscence therapy
pharm:
- acetylcholinesterase inhibitors (donepezil, galantamine and rivastigmine) - mild - moderate AD
- memantine (NMDA receptor antagonist)- 2nd line
when would you give memantine as AD tx?
moderate AF intolerant or CI to acetylcholinesterase inhibitor
as add on drug for mod-severe
monotherapy in severe
when can you give an antipsychotic in AD?
to manage noncognitive sx
pt at risk of harming themselves or others.
when agitation hallucination or delusions causing them severe distress
how is donepezil contraindicated in and what is the adverse effecct?
AD TX
bradycardic pts
insomnia
characteristic pathological feature of lewy body dementia?
where are they found?
alpha-synuclein cytoplasmic inclusions (lewy body)
in substantia nigra, paralimbic and neocortical areas.
relationship with alzheimers and lewy body?
upto 40% of of alzheimers have lewy bodies.
features of Lewy body dementia?
progressive cognitive impairment: typically before parkinsonism but both occur within a yr of each other.
FLUCTUATING COGNITION
parkinsonisms
visual hallucinations
- poss delusions and nonvisual hallucinations
REM sleep disorder?
how can lewy body be differentiated from parkisons disease?
in parkinsons motor symptoms occur at least a yr before cognitive sx.
in lewy body first cognitive impaired then motor.
How would you diagnose Lewy body dementia?
clinical
single photon emission computed tomography - SPECT. (called DaTscan)
90% sensitivity 100% specificity
How would you manage Lewy Body Dementia?
both acetylchoinesterase inhibtors (donepezil, rivastigmine) and memantine.
NO TO NEUROLEPTICS
why should you avoid neuroleptics in Lewy body dementia?
can get irreversible parkinsonism.
if hx of pt with deteriorated after antipsychotic agent
What is Vascular Dementia?
second most common form after AD.
group of syndromes of cognitive impairment caused by different mechanisms causing ischaemia or haemorrhage secondary to cerebrovascular disease.
subtypes of vascular dementia
stroke related - multi infarct or single infarct dementia
subcortial vd - caused by small vessel disease
mixed dementia - both vd and ad
rf of vascular dementia
hx of tia
af
htn
dm
hyperlipidemia
smoking
obesity
coronary heart disease
fhx of storke/cv issue
rare: CADASIL - inherited - cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy
pt comes with vascular dementia. how is he presenting?
several months/years of hx of a sudden or stepwise deterioration of cognitive function
symptoms of vascular dementia
focal neurological abnormalities: visual disturbance, sensory or motor sx
difficulty with attention and concentration
seizures
memory disturbance
gait disturbance
speech disturbance
emotional disturbance
how would you make a diagnosis of vascular dementia?
hx and exam
formal screen for cognitive impairment
med review - exclude medication cause of cognitive decline
MRI - may show infarcts and extensive white matter changes
what criteria used for diagnosis of vascular dementia
NINDS-AIREN
presence of cognitive declines interferes with adls not due to secondary effects of cerebrovascular event
cerebrovascular disease - defined by neurological signs/brain imaging
relationship between above 2 disorders inferred by:
onset of dementia within 3 months after recognised stroke
abrupt deterioriation in cognitive function
fluctuating stepwise progressive cognitive deficits
how would you mange vascular dementia?
non pharm:
- cognitive stimulation
- multisensory stimulation
-music and art
-animal assisted therapy
pharm:
- no specific ones
- only ache inhibitors or memantine if they have AD too, parkinsons dementia or dementia with lew body.
- aspirin isnt effective in tx of vd PATIENTS.
rare causes of dementia
huntingtons
CJD
picks disease - atropy of frontal and temporal lobes
HIV - 50% of aids pts.
name some differentials of dementia
hypothyroidism, addisons
b12 folate thiamine def
syphilis
brain tumour
normal pressure hydrocephalus
subdural haematoma
depression
chronic drug use - alcohol, barbiturates
assessment tools for dementia in non specialist setting
10-point cognitive screener : (10-CS)
6- item cognitive impairment test (6CIT)
others: not recommended for non-specialist setting
- AMTS
-GPCOG
-MMSE - 24 or less/30 = suggests dementia
what to investigate initially when thinking dementia?
fbc
u+e
lft
calcium
glucose
esr crp
tft
vit b12
folate
neuroimagine - rule out subdural haematoma, normal pressure hydrocephalus
factors favouring delirium over dementia
acute onset
impairment of consciousness
fluctuation of sx: worse at night, periods of normality
abnormal perception - illusions and hallucinations
agitation,fear, delusions
What is frontotemporal lobar degeneration?
3 types
3 MC cortical dementia after AD and lewy body
3 types:
-frontotemporal dementia (picks disease)
- progressive non fluent aphasia - chronic progressive aphasia, CPA
- semantic dementia
common features of frontotemporal lobar dementias
- onset before 65
- insidious onset
- relatively preserved memory and visuospatial skills
- personality change
- social conduct problems
What is Picks Disease - frontotemporal dementia?
personality change
impaired social conduct.
hyperorality
disinhibition
increased appetite
preservation behaviours
behaviour
speech
language
can be familial.
characteristic appears of picks disease - frontotemporal dementia?
focal gyral atrophy with knife blade appearance
tell me the macroscopic changes in picks and the microscopic changes
Macroscopic:
atrophy of frontal and temporal lobes
Microscopic:
Pick Bodies - spherical aggregations of tau protein - silver staining
Gliosis
Neurofibrillary Tangles
Senile Plaques
how would you manage picks disease?
AchE inhibitors or memantine
features of chronic progressive aphasia
non fluent speech.
short utterances that are agrammatic.
preserved comprehension
features of semantic dementia?
fluent progressive aphasia.
fluent speech but empty and conveys little meaning.
memory between for recent than remote events unlike AD.
name the meds with anticholinergic effect
anticholinergic urological drugs - oxybutynin, solifenacin and tolterodine
antihistamine - chlorphenamine and promethazine
tricyclic antidepressants - amitriptyline
what is ace-III - addenbrooke cognitive examination
domains
points
assessment tool for memory impairement.
5 domains:
attention
memory
language
visuospatial function
verbal fluency
100 points
88 or less = possible dementia.
name some behavioural and psychological sx of dementia
how would you tx?
depression anxiety agitation aggression disinhibition hallucinations delusions slep disturbance
ssri
antipsychotic - risperidone
benzodiazepine - only for crisis.
predisposing factors for delirium
age over 65
dementia background
significant injury eg- hip fracture
frailty or multimorbidity
polypharmacy
features of delirium
memory disturbances (loss of short> long term)
could be agitated or withdrawn
disorientation
mood change
visual hallucinations
disturbed sleep cycle
poor attention
precipitating events of dementia
infection - uti
severe pain
alcohol withdrawal
constipation
any cv,resp,neuro,endo condition
metabolic: hypercalcaemia, hypoglycaemia, hyperglycaemia, dehydration
change of environment
how would you manage delirium
tx underlying cause.
haloperidol 0.5 mg - 1st line sedative
or olanzapine
what can antipsychotic prescribing be challenging for parkinson patient?
worsen parkinsonian sx
careful reduction of parkinson meds may be helpful
if sx need urgent tx : atypical antipsychotic quetiapine and clozapine preffered
What is benign essential tremor?
genetic
most notable where?
autosomal dominant - affected both upper limbs
associated with older age.
fine tremor affecting all voluntary muscles.
hands but also: head (TITUBATION)!!!, jaw and vocal tremors
features of benign essential tremor
POSTURAL TREMOR - WORSE IF ARMS OUTSTRETCHED
fine tremor - 6-12 hx
symmetrical
more prominent with voluntary movement
worse when tired,stressed or after caffeine
improved by alcohol
absent during sleep
differentials of benign essential tremor
parkinsons
MS
Huntingtons chorea
hyperthyroidism
fever
dopamine antagonists - eg antipsychotics
how would you manage benign essential tremor?
nothing definitive.
to improve sx:
propranolol 1st line - non selective beta blocker
primidone - barbiturate antiepileptic med
Name some causes of parkinsonisms
parkinsons
drug induced - antipsychotics,metoclopramide
progressive supranuclear palsy
multiple system atrophy
wilsons disease
post-encephalitis
dementia pugilistica - chronic head trauma cause like boxing
toxins: carbon monoxide, MPTP
domperidone
class of drug
function
why doesn’t it cause extrapyramidal side effects
antisickness
dopamine antagonist
doesnt cross blood brain barrier
What is Parkinson’s disease?
progressive neurodegenerative conditions
caused by degeneration of dopaminergic neurons in substantia nigra.
progressive reduction in dopamine in basal ganglia - so you get disorder of movements
ASYMMETRICAL
classical triad of features: parkinsons
other general picture
REDUCTION IN DOPAMINERGIC OUTPUT CAUSES:
bradykinesia - slowness of movement
resting tremor - tremor worst at rest
rigidity - resisting passive movement
ASSYMETRICAL
forward tilt
stooped posture
facial masking
shuffling gait
epidemiology of parkinsons
twice as common in men
mean age: 65
talk to me about the triad of sx in parkinsons: bradykinesia
poverty of movement - hypokinesia
short shuffling (gait) steps with reduced arm swing
difficulty in initiating movement
micrographia
festinating gait - rapid frequency of steps to comp for small steps and not fall
reduced facial movements and expressions(hypomimia)
difficulty initiating movement
Pathophsyiology of Parkinsons
basal ganglia are group of structures near centre of brain.
coordinate habitual movements like walking controlling voluntary movements etc.
dopamine plays major role. - in pd you have a drop of dopamine.
talk to me about triad of sx in parkinsons: tremor
WHAT EXAGGERATES THE PILLROLLING TREMOR
most marked at rest, 3-5 hz
worse when stressed/tired, IMPROVES WITH VOLUNTARY MOVEMENT (unilateral)
PILL-ROLLING ie in the thumb and index finger. worse at rest better with voluntary movement. worse if pt distracted.
miming act of painting a fence
tell me about sx in parkinsons: rigidity
resistance to passive movement of a joint
lead pipe
cogwheel: due to superimposed tremor
other general features of parkinsons
mask-like facies
flexed posture
micrographia
drooling of saliva
REM sleep behaviour disorder
fatigue
autonomic dysfunction: postural hypotension due to autonomic failure
psychiatric feature: depression is MC feature (40%) - psychosis and sleep disturbances poss
impaired olfaction
cognitive impairement.
how are drug induced parkinsonism presenting features to parkinsons?
motor symptoms are generally rapid onset and bilateral
rigidity and rest tremor are uncommon
How would you differentiate between essential tremor and Parkinson’s?
123 I - FP - CIT single photon emission computed tomography (SPECT)
What stain shows alpha synuclein of substantia nigra in parkinsons?
lewy body brown stain positive for alpha synuclein
How would you treat parkinsons?
if motor sx affected QoL: levodopa
if motor sx not affecting QoL: dopamine agonist (non-ergot derived), levodopa, monoamine oxidase B (MAO-B) inhibitor
if optimal levodopa and still sx or developed dyskinesia, add dopamine agonist, MAO-B inhibitor or catechol-o-methyl transferase (COMT) inhibitor as adjunct.
out of parkinson treatments rank them for motor symptoms, activities of daily living and motor complications
adverse events - what are they too
levodopa - fever adverse events
dopamine agonist - more adverse
MAO-B inhibitors - fever adverse
1st - more improvement and more motor comps
2nd and 3rd - less improvement and fever motor comps
adverse: excessive sleep, hallucination, impulse control disorder
when adding a drug as an adjunct in parkinsons you need to make a few decisions based on
motor sx
adl
off time
adverse events
hallucinations
make them for dopamine agonist, MAO-B inhibitors, COMT inhibitors, Amantadine.
Motor Symptoms, ADL : dopamine agonist, MAO-Bi COMTi - improvement in both.
Amantadine: no evidence in improvement of either.
Off time: dopamine agonist : more off-time reduction, MAO-Bi and COMTi - off-time reduction
Amantadine : no evidence
Hallucinations:
DA - more risk
MAO-Bi/COMTi : lower risk of them
Amantadine: no evidence
Adverse events :
DA - intermediate risk
MAO-Bi/COMTi : fever adverse events/more adverse events
what can happen to a patient if parkinson tx medication is not absorbed/taken?
give a reason why this could happen
risk of acute akinesia or neuroleptic malignant syndrome
gastroenteritis
NO DRUG HOLIDAY
what therapy/treatment can impulse control disorder happen with?
dopamine agonist therapy
hx of previous impulsive behaviours
hx of alcohol consumption and/or smoking
parkinson patient is day time sleepy but drives what to do?
modafinil - Atypical dopamine reuptake inhibitor
if orthostatic hypotension in parkinson patient what to give?
how does it work?
midodrine - acts of peripheral alpha-adrenergic receptors to increase arterial resistance
parkinson pt drooling of saliva - how to tx?
glycopyrronium bromide
common adverse effects of levodopa
reduced effectiveness over what period of time?
dry mouth
anorexia
palpitations
postural hypotension
psychosis
reddish discolouration of urine upon standing
n+V
cardiac arrhythmias
on off effect
dyskinesia
by 2 yrs
how is levodopa usually prescribed? parkinsons
why?
usually with a decarboxylase inhibitor - eg carbidopa or benserazide
levo+benserazide : MADOPA
levo+carbi: SINEMET
prevents peripheral metabolism of levodopa to dopamine outside of brain - reduce side effects
can you name some adverse effects of levodopa due to difficulty in achieving a steady dose of levodopa?
end of dose wearing off. - decline of motor activity.
on-off phenomenon: large variation in motor performance. - weakness and restricted mobility during off.
dyskinesia at peak dose: dystonia,chorea and athetosis (involuntary writhing)
effects worsen over time
you are at peak dose of levodopa in parkinson tx and develop dyskinesias
what are they?
dystonia
chorea
athetosis - involuntary writhing movements
why shouldnt you acutely stop levodopa
what to do if they cant take orally
acute dystonia
give dopamine agonist patch as rescue medication
give me 4 examples of dopamine receptor agonists
side effects of ergot derived= what to do if prescribing these?
bromocriptine - ergot derived
ropinirole
cabergoline - ergot derived
apomorphine
ergot derived: pulmonary,retroperitoneal and cardiac fibrosis
echocardiogram
esr
creatinine
cxr
all above before tx and closely monitor during.
side effects of dopamine receptor agonists
congestion and postural hypotension in some
more likely than levodopa in older pts to cause hallucinations
potential: impulse control disorder and excessive daytime somnolence
give the the MoA of MAO-B inhibitor and an example
Selegiline/Rasagiline.
inhibits breakdown of dopamine secreted by dopaminergic neurons
used to delay use of levodopa, then with levodopa to reduce end of dose worsening sx.
How does amantadine work and what is its side effects? parkinsons
class of drug
use
glutamate antagonist - treat dyskinesia associated with levodopa
increases dopamine release and inhibits its uptake at dopaminergic synapses
ataxia
slurred speech
confusion
dizziness
livedo reticularis
give me 2 examples of COMTi - catechol-o-methyl transferase inhibitors
and what is it?
how and when used?
entacapone, tolcapone
enzyme breaks down dopamine.
use with levodopa esp in established PD patients to slow breakdown of levodopa in brain. extends effective duration of levodopa
how do antimuscarinics work in parkinsons?
give examples
what sx do they help with
block cholinergic receptors
used more to tx drug-induced parkinsons
help tremor and rigidity
procyclidine
benzotropine
trihexyphenidyl - (benzhexol)
what is multiple system atrophy?
symptoms
rare
neurones of brain degenerate including basal ganglia. - parkinsons presentation
but you get autonomic dysfuntcion (postural hypotension,constipation, abnormal sweating and sex dysfunction) too
cerebellary dysfunction (ataxia)
prolonged use dopamine agonist treat side effect
pulmonary fibrosis
What is motor neuron disease and types?
with the types theyre main signs
progressive group of diseases affecting motor nerves not sensory.
rarely before 40.
ALS - MC - 50% pts - LMN signs in arms and UMN signs in legs.
if familial : gene responsible lies on chr 21 and codes for superoxide dismutase
Primary Lateral Sclerosis: UMN signs only
Progressive muscular atrophy: LMN signs only, distal muscles before proximal, best prognosis
Progressive Bulbar Palsy: palsy of tongue, muscles of chewing/swallowing and facial muscles due to loss of function of brainstem motor nuclei. Worst prognosis.
features of mnd
assymetric limb weakness - ALS
mixed lmn and umn signs
wasting of small hand muscles/tibialis anterior
fasciculations
absence of sensory signs/sx:
- vague sensory symptoms early in disease poss? - eg limb pain but never sensory sign
no cerebellar signs
dont affect external ocular muscles
abdo reflexes preserved.
SPINCTER DYSFUNCTION - LATE FEATURE
how to diagnose MND?
clinical
nerve conduction studies - normal motor conduction.
electromyography - reduced no. of action potentials with increased amplitude.
MRI: exclude cervical cord compression and myelopathy
how would you manage MND
riluzole
- ALS
- prolongs life by 3 months
- prevents glutamate receptor stimulation
Resp care:
- non invasive ventilation - BIPAP - at night
- 7 month survival benefit
Nutrition
- PEG - percutaneous gastrostomy tube
Prognosis: poor
50% pts die within 3 yrs
any associated risk factors for mnd
fhx - 5-10%
smoking
heavy metals and certain pesticides
signs of lower mnd
muscle wasting
reduced tone
fasciculations
reduced reflexes
signs of upper mnd
increased tone or spasticity
brisk reflexes
upgoing plantar reflex
What is Multiple Sclerosis?
chronic and progressive autoimmune condition involving demyelination in cns.
immune system attacks myelin sheath of myelinated neurones
typically under 50 . more in women 20-40 peak.
causes of MS
Genetics:
monozygotic twin concordance = 30%
dizygotic twin concordance = 2%
EBV
low vit d
smoking
obesity
types of MS
relapsing remitting - mc - 85%
acute attacks - last1-2 months followed by periods of remission
secondary progressive disease:
- relapsing remitting pts deteriorated and got neurological signs and symptoms between relapses.
- 65% of RR patients get this within 15 yrs
- gait and bladder disorders
primary progressive
-10% pts
- progressive deterioration from onset
- mc in older ppl
Pathophysiology of MS
affects cns - oligodendrocytes.
inflammation and immune cell infiltration damages myelin.
pt gets ms attack - episode of optic neuritis. therell be other demyelinating lesions in cns but not causing sx.
re-myelination can happen in early disease so sx resolve. later on in disease re-myelination is incomplete for sx get more permanent.
characteristic feature of MS
onset of sx - ms
disseminated in time and space
lesions vary in location - affected sites and sx change over time
progress over more than 24hrs. sx last days to weeks at 1st presentation and then improve.
how would you investigate MS?
diagnosis need proof of lesions disseminated in time and space
MRI:
- high signal T2 LESIONS
- periventricular plaques
- Dawson fingers: often seen on FLAIR images - hyperintense lesions perpendicular to corpus callosum
CSF:
- oligoclonal bands IgG - not in serum
- increased intrathecal synthesis of IgG
Visual Evoked Potentials:
- delayed, but well preserved waveform
features of MS
75% lethargy
visual:
- optic neuritis - unliateral reduced vision hours to days.
-optic atrophy
-Uhtoff’s phenomenon: worsening of vision (all sx) after body temp rise
- internuclear opthalmoplegia - impaired adduction and nystagmus in contralateral abducting eye
Sensory
- pins/needles
-numbness
-trigeminal neuralgia
- Lhermitte’s Syndrome: paresthesiae in limbs on neck flexion
Motor:
- spastic weakness: mc legs
cerebellar:
-ataxia : more during acute relapse than presenting sx
- tremor
Other:
- urinary incontinence
-sex dysfunction
- intellectual deterioration
key features of optic neuritis
central scotoma - enlarged central blind spot
pain with eye movement
impaired colour vision
relative afferent pupillary defect
explain what a relative afferent pupillary defect is
OPTIC NEURITIS
pupil in affected eye constricts more when shining a light in contralateral eye.
reduced pupil response to shining light in affected eye - direct pupillary reflex check.
in MS , lesion in abducens cnVI causes?
conjugate lateral gaze disorder.
conjugate just means connected.
lateral gaze where both eyes move laterally to lef tor right.
when they look in a direction of affected eye, affected eye cant abduct.
eg: lesion in left eye. when looking to left the right eye will adduct ( move towards nose) the left eye will stay middle.
MS presents with focal weakness. give examples
incontinence
horner syndrome
facial nerve palsy
limb paralysis
ms presents with focal sensory sx. give examples
trigeminal neuralgia
numbness
paraesthesia
lhermittes sign
what is lhermittes sign?
what does it tell you?
how is it caused?
ms
electric shock sensation travels down spine and into limbs when flex neck.
tells you disease in cervical spinal cord in dorsal column.
caused by stretching demyelinated dorsal column
MS issue with ataxia - 2 types and differences
ataxia - coordinated movement issue
sensory: loss of proprioception. - positive rombergs test. - lose balance when standing with eyes closed. -
cause psedoathetosis - involuntary writhing movements.
lesion in dorsal columns of spine can cause sensory ataxia.
cerebellar: problems with cerebellum coordinating movement, indicating cerebellar lesion.
how would you manage an acute relapse of MS?
acute relapse:
- high dose steroid: oral/iv methylprednisolone 5 days. - short length of acute relapse
when would you give disease modifying drugs for ms ?
relapsing remitting disease + 2 relapses in last 2 yrs + able to walk 100m unaided
secondary progressive disease + 2 relapses in past 2 yrs + able to walk 10m (Aided/unaided)
drug options for reducing relapse risk - MS
Natalizumab - 1st line - iv
ocrelizumab - iv - also used first line
fingolimod - oral formula
beta-interferon - subcut/IM - not as effective as other drugs
glatiramer acetate - subcut - immunomodulating drug - immune decoy
natalizumab - ms tx
MoA
recombinant monoclonal antibody that antagonises alpha 4 beta 1 integrin found on leucocyte surface.
inhibit migration of leucocytes across endothelium across blood brain barrier.
ocrelizumab - ms tx
MoA
humanised anti-cd20 monoclonal antibody
fingolimod - ms tx
MoA
sphingosine 1-phosphate receptor modulator (S1P)
prevents lymphocytes from leaving lymph nodes
if an ms pt experiences fatigue what to give?
exclude anaemia thyroid and depression
then give amantadine
or mindfulness training and cbt
if an ms pt has spasticity what to give?
baclofen and gabapentin: 1st line
others:
diazepam,dantrolene and tizanidine
physio
cannabis and botox: under evaluation
how would you tx oscillopsia (when visual fields oscillate) in ms pt?
gabapentin : 1st line
how would you manage bladder dysfunction in ms pt?
could be urgency incontinence or overflow
get uss first to assess bladder emptying - anticholinergic could worsen sx in some pts
if significant residual vol: intermittent self-catheterise
if not: anticholinergics improve urinary frequency
What is duchenne muscular dystrophy?
x linked recessive inherited disorder in the dystrophin genes required for normal muscular function.
dystrophinn gene on Xp21
features of duchenne muscular dystrophy
progressive proximal muscle weakness from 5 yrs
calf pseduohypertrophy
gowers sign: child uses arms to stand up from squatted position because muscles around pelvis not strong enough to get body erect.
30% pts - intellectual impairement
how would you investigate duchenne muscular dystrophy?
raised creatinine kinase
genetic testing replaced muscle biopsy to get definitive diagnosis
how would you manage duchenne muscular dystrophy?
prognosis
supportive
no effective tx
prognosis:
- most kids cant walk by 12 yrs
- survive till 25-30
- have dilated cardiomyopathy!!
tell me about becker muscular dystrophy
develops after 10 yrs
intellectual impairment much less common
also x linked recessive.
difference between duchenne muscular dystrophy and becker muscular dystrophy - genetics
duchenne: frameshift mutation = 1 or both of binding sites are lost = severe form
becker: non-frameshift insertion in dystrophin gene = both binding sites preserved = milder form
Tell me about myotonic dystrophy
inherited myopathy.
20-30 yrs old.
skeletal cardiac and smooth muscle affects.
2 types: dm1 and dm2
genetic component to myotonic dystrophy
autosomal dominant
trinucleotide repeat disorder
DM1 caused by CTG repeat at end of DMPK gene on chr 19
DM2 caused by repeat expansion of ZNF9 gene on chr3.
key difference between dm1 and dm2 for myotonic dystrophy
dm1: dmpk gene on chr 19. distal weakness more prominent
dm2 : znf9 gene on chr3. proximal weakness more. severe congenital form not seen
general features of myotonic dystrophy
myotonic facies - long “HAGGARD” appearance
frontal balding
bilateral ptosis
cataracts
dysarthria
myotonia (tonic spasm of muscle)
weakness of arms and legs - initially distal
mild mental impairement
DM
testicular atrophy
cardiac: heart block, cardiomyopathy
dysphagia
PROLONGED MUSCLE CONTRACTION.
briefly tell me about facioscapulohumeral muscular dystrophy
in childhood present
weakness around face - progress to shoulders and arms
sleep with eyes slightly open
weakness pursing lips.
cant blow cheeks out without air leaking from mouth
briefly tell me about oculopharyngeal muscular dystrophy
late adulthood weakness of ocular muscles and pharynx.
bilateral ptosis
restricted eye movement
swallowing problems
muscles around limb girdles affected to varying degrees.
briefly tell me about limb girdle muscular dystrophy
teenage years
progressive weakness around limb girdle - hips and shoulders
briefly tell me about emery-dreifuss muscular dystrophy
childhood with contractures - elbows and ankles.
contracture: shorterning of muscle and tendons – restrict range of movement in limb.
progressive weakness and wasting of muscle - upper arm and lower legs first
What is huntingtons disease?
inherited neurodegenerative condition.
progressive
incurable
death 20yrs after initial sx start.
autosomal dominant
defect in huntingtin gene on chr 4 - genetic mutation of HTT
trinucleotide repeat disorder: repeat expansion of CAG - PHENOMENON OF ANTICIPATION
what is the phenomenon of anticipation in huntingtons disease?
disease presents earlier age in sucessive generations
features of huntingtons disease
age of presentation
typically develop after 35 yrs old
chorea - involuntary random irregular abnormal body movements.
personality change - irritable, apathy, depression and intellectual impairment
dystonia - abnormal muscle tone - abnormal posture
saccadic eye movements
dysarthria - speech issue
dysphagia
how would you manage huntingtons?
physio - for contractures
speech and language - speech and swallowing difficulty
tetrabenazine - chorea
why might someone get a brain abscess?
extension of sepsis from middle ear or sinuses
trauma or surgery to scalp
penetrating head injury
embolic event from endocarditis
what is someone most likely going to die with when they have huntingtons disease?
aspiration pneumonia.
or suicide.
presenting sx of brain abscess
depend on site of abscess - if motor cortex will present earlier
mass effect on brain and raised icp
headache: dull persistent
fever: poss absent. not swinging pyrexia though
focal neurology: oculomotor nerve palsy or abducens nerve palsy secondary to raised icp
nausea
papilloedema
seizures
how would you investigate for brain abscess
ct scanning
how would you manage for brain abscess
surgery - craniotomy - debride abscess cavity.
abscess can reform because head is closed after abscess drainage
iv abx: 3rd gen cephalosporin+ metronidazole
icp manage: dexamethasone
causative organisms of meningitis
neonatal to 3 months:
- group b strept : from mother at birth. mc in low birth weight babies and after prolonged rupture of membranes
-ecoli and other gram negative organisms
- listeria monocytogenes
1mnth- 6yrs:
- neisseria menigitidis - meningococcus
- strept pneumoniae - pneumococcus
-haemophilus influenzae
over6:
- Neisseria meningitidis - meningococcus
-streptococcus pneumoniae - pneumococcus
over 60 :
streptococcus pneumonia
neisseria meningitidis
immunosupresed:
listeria monocytogenes
meningitis vaccination includes which serotypes and given when
2 months 4 months 12-13 months
a and c and b (bexsero)
symptoms and signs of meningitis
symptoms:
headache fever n+v, photophobia drowsiness seizures
signs:
neck stiffness
purpuric rash - particular with invasive meningococcal disease
what stain is used to find tuberculous meningitis ?
ziehl neelsen
20% sensitive
csf findings in meningitis
bacterial
viral
tuberculous
fungal
appearance
glucose
protein
white cells
bacterial:
cloudy
low - (<1/2 plasma)
high (>1 g/l)
10 -5000 polymorphs /mm3
viral:
clear/cloudy
60-80% of plasma glucose
normal/raised
15-1000
tuberculous:
slight cloudy,fibrin web
low
high
10-1000
cloudy
low
high
20-200
complications of meningitis
neurological sequlae:
sensorineural hearing loss - mc
seizures
focal neurological deficit
infective: sepsis, intracerebral abscess
pressure: brain herniation, hydrocephalus
pt has meningococcal meningitis, risk of what syndrome?
waterhouse-friderichsen
adrenal insufficiency secondary to adrenal haemorrhage
in what patients would you not do lumbar puncture for suspected meningitis?
what to do instead
focal neurological signs
papilloedema
significant bulging of fontanelle
disseminated intravascular coagulation
signs of cerebral hernation
blood cultures and pcr
how would you manage meningitis in kids?
abx
under 3 months: iv amox (or ampiciliin) + iv cefotaxime
over 3 months: iv cefotaxime - of ceftriaxone
steroids
- not to under 3 mnths
- dexamethasone - if LP shows:
frankly purulent csf.
csf wbc over 1000/microlitre
protein over 1g/l
bacteria on gram stain
fluids: treat shock eg with colloid
cerebral monitoring - mechanical ventilation if resp impairment
public health notify
what abx would you give as prophylaxis to contacts of meningitis
ciprofloxacin
what is meningitis?
inflammation of leptomeninges and csf of subarachnoid space.
viral causes of meningitis
non-polio enteroviruses: coxsackie, echovirus
mumps
hsv, cytomegalovirus, herpes zoster
hiv
measles
risk factors of viral meningitis
pt at extremes of age under 5 and old
immunocompromised - pt with renal failure, with dm
ivdu
clinical features of viral meningitis
common:
headache
neck stiffness
photophobia - milder than bacterial
confusion
fever
NON BLANCHING RASH
less common:
- focal neurological deficit on exam
- seizure: suggest meningoencephalitis
how would you investigate viral meningitis
LP - csf
opening pressure - 10-20cm3 h20
cell count - 10-300 cells/ul
cell differential - lymphocytes
glucose - 2.8-4.2 mmol/l
protein - 0.5-1 g/dl
viral pcr - underlying organism
how would you manage viral meningitis?
if thinking bacterial or encephalitis: start broad spect abx with cns pentration: ceftriaxone and aciclovir IV.
viral meningitis self limiting - immproves 7-14 days.
aciclovir - if pt suspected to have meningitis secondary to hsv.
pt with meningitis - hospital approach
a - irway
b - reathing
c - circulation
d - disability : gcs - focal neuro signs, seizures, papilloedema
warning signs for acute presentation meningitis
rapidly progressing rash
poor peripheral perfusion
resp rate under 8 or over 30 or pulse under 40 over 140
ph under 7.3
wbc under 4*10(9) or lactate over 4 mmol/l
gcs under 12 or drop of 2 pts
poor response to fluid resus
in what circumstance would you delay a lumbar puncture - meningitis - bacterial suspected?
signs of severe sepsis or rapidly evolving rash
severe resp/cardiac compromise
significant bleeding risk
signs of raised icp : focal neuro signs,papilloedema,continuous/uncontrolled seizures, gcs 12 or less.
how would you manage bacterial meningitis with pt without indication for delayed lp
iv access - blood and blood cultures
lp: if not in 1st hr - iv abx after blood cultures taken
iv abx: 3mth-50 : cefotaxime - or ceftriaxone
over 50: above + amox (or ampicillin) for adults
iv dex : adjunctive - esp if pneumoccocal menin in adults - start before or with first dose of antibac, but not later than 12 hours after.
NO CT
in what case would you avoid dex - meningitis bacterial case?
septic shock,
meningococcal septiciaemia
immunocompromised
or meningitis after surgery.
how would you manage a bacterial meningitis case with raised icp? same if severe sepsis or rapidly evolving rash
secure airway + high flow ox
iv access - bloods and blood cultures
iv dex
iv abx
neuroimagine
what bloods to test for suspected bacterial meningitis?
other tests
fbx
renal
flucose
lactate
clotting profile
crp
blood gases
throat swab for meningococcal culture
bacterial meningitis pt : initial empirical therpay undr 3 months or over 50
iv cefotaxime + amoxicillin
bacterial meningitis - initial empiral therapy 3mths - 50 yrs
iv cefotaxime - or ceftriaxone
meningococcal meningitis - bactieral scenario mx
iv benzylpenicillin or cefotaxime (or ceftriaxone)
pneumococcal meningitis - bacterial meningitis scenario mx
meningitis caused by h influenzae
iv cefotaxime (or ceftriaxone)
meningitis caused by listeria - mx
iv amox or amp - + gentamicin
what to do in bacterial meningitis mx if pt history of immediate hypersensitivity to penicillin to cephalosporins?
chloramphenicol
prophylaxis for contacts of bacterial meningitis
if exposed to resp secretion.
risk highest in 1st 7 days- lasts for 4 weeks.
if confirmed: give if close within 7 days before onset.
oral ciprofloxacin or rifampicin.
give meningococcal vaccination. - give booster if they had it in infancy.
no prophylaxis for pneumococcal.
2 tests for meningeal irritation
both pt lies on back
kernigs - flex 1 hip and knee to 90 degree. slowly straighten knee keep hip flexed. spinal pain or resistance?
brudzinkis - use hand to life head and neck off bed and flex chin to chest. - causes pt to involuntarily flex hips and knees
what is guillain barre syndrome?
triggers
acute paralytic polyneuropathy affects pns.
immune mediated demyelination of pns.
acute, symmetrical ascending weakness.
sensory symptoms.
triggered by infections:
- campylobacter jejuni
-cytomegalovirus (cmv)
-epstein-barr virus (ebv)
pathophysiology of guillain barre syndrome
cross reaction of antibodies with gangliosides in pns
correlation between anti-ganglioside antibody (anti-gm1) and clinical features seen
anti-gm1 antibodies - seen in 25% pts
what is miller fisher syndrome?
variant of guillain-barre syndrome
opthalmoplegia, areflexia, ataxia. - eye muscles affected first.
descending paralysis not ascending.
anti-gq1b antibodies in 90% pts
initial symptoms of gullain barre syndrome
characteristic features
other features
lesson common findings:
back/leg pain
-progressive symmetrical weakness of all limbs. ascending - legs affected first.
- reflexes reduced/absent
-sensory sx mild - distal paresthesia with very few sensory signs
other:
- hx of gastroenteritis
-respiratory muscle weakness
- cranial nerve involvement - diplopia, bilateral facial nerve palsy, oropharyngeal weakness
- autonomic involvement: - urinary involvement, diarrhoea
less common:
- papilloedema : secondary to reduced csf resorption
how would you investigate guillain barre syndrome?
lp : rise in protein. normal wbc count - albuminocytologic dissociation
nerve conduction studies : decreased motor nerve conduction velocity - due to demyelination
prolonged distal motor latency
increased f wave latency
what criteria to diagnose guillain barre?
brighton criteria
how would you manage guillain barre syndrome?
vte prophylaxis - pulmonary embolism
iv immunoglobulins - IVIG - 1st line
plasmapheresis - alternative to IVIG
severe: if resp failure require intubation, ventilation and admit to icu.
features of encephalitis
fever headache psychiatric sx , seizures, vomiting
focal features: aphasia
altered cognition/conciousness. unusual behaviour.
peripheral lesions: like cold sores no relationship to presence of HSV encephalitis
pathophysiology of encephalitis
hsv-1 - 95% adult cases
affects temporal and inferior frontal lobes
how would you investigate encephalitis
csf - lymphocytosis, elevated protein
pcr: HSV,VSV,ENTEROVIRUSES
neuroimaging:
CT - medial temporal and inferior frontal changes - eg petechial haemorrhages
normal in 1/3 of patients
MRI is better
hiv test
swabs - causative organism, throat and vesicle swab
EEG: lateralised periodic discharges at 2Hz
how would you manage encephalitis
intravenous aciclovir start in all suspected encephalitis cases - hsv and vsv
ganciclovir - cmv
complications of encephalitis
lasting fatigue/prolonged recovery
headache, chronic pain, learning disability, change to memory, personality, mood , cognition.
movement disorder
sensory disturbance
siezure
hormonal imbalance
contraindications of lp in encephalitis in kids
gcs below 9
haemodynamiccaly unstable
active seizures
post-ictal
causes of encephalitis in kids
non infective: autoimmune
mc : viral
bacterial and fungal - rare
mc: hsv. hsv-1 from cold sores.
in neonates: hsv-2 from genital herpes from birth.
vzv: chicken pox,cmv associated with immunodeficiency.
ebv: infectious monucleosis, adenovirus, influenza virus.
polio, mumps, rubella, measles - all can cause it too.
hsv encephalitis - typically affects with lobes
temporal
what is shingles herpes zoster?
acute unilateral painful blistering rash
caused by reactivation of varicella-zoster virus - vzv.
(following vzv infection, chickenpox)
virus lies dormant in dorsal root or cranial nerve ganglia.
risk factors of shingles
increasing age
hiv: strong rf 15* more common
other immunosuppressive conoditions: steroids, chemo
most common affected dermatomes in shingles
t1-l2
features of shingles
prodromal period:
- burning pain over affected dermatome for 2-3 days.
-pain might be severe and sleep
- 20% pts experience fever, headache, lethargy
rash
- erythematous, macular rash over affected dermatome
-quickly becomes vesicular
- characteristically well demarcated by dermatome dont cross midline. “ bleeding” in adjacent areas might be seen.
clinical diagnosis
how would you manage shingles - herpes zoster
avoid pregnant women and immunosuppresed - contagious
infectious until vesicles crusted over, 5-7 days after onset. covering lesions reduces risk.
analgesia:
- 1st line para and nsaids
- if not : neuropathic agent like amitriptyline
- oral corticosteroids - in 1st 2 weeks in immunocompetent adults with localised shingles if pain severe.
antivirals
- within 72 hrs for most patients, unless pt under 50 and mild truncal rash with mild pain
- aciclovir , famciclovir, valaciclovir
benefit of prescribing antiviral in shingles - herpes zoster
reduced incidence of post-herpetic neuralgia
complications of shingles -herpes zoster
postherpetic neuralgia
herpes zoster opthalmicus - ocular division of trigeminal nerve
herpes zoster oticus - ear lesions and facial paralysis
malaria is caused by?
plasmodium protozoa spread by female anopheles mosquito:
4 diff :
plasmodium falciparum - most.
plasmodium vivax - 2nd - benign malaria
plasmodium ovale
plasmodium malariae
malaria protects from what diseases?
sickle-cell trait
g6pd deficiency
hla b53
absence of duffy antigens
falciparum malaria - mc - most severe type: features - classic triad
why do they occur every 48 hrs?
paroxysms of fever chills and sweating.
every 48 hrs because erythrocytic cycle of plasmodium falciparum parasite.
fever high intermittent. - possible rigors too.
non specific:
malaise,headache,myalgia
general features of falciparum malaria
fever - cyclical - sweating and sometimes rigors.
gi:
-anorexia,n+v, abdo pain. diarhoea poss , mc in kids. poss mild jaundice and occasional pruritus
resp: cough, poss mild tachypnoea
msk: generalised body aches and joint pain
neuro: headache. dizziness and sleep disturbance.
cv: tachy, hypotension more typical of severe malaria.
haem: thrombocytopenia most significant haematological finding. mild anaemia poss
renal: aki associated with severe malaria. non severe : mild-moderate increase in creatinine or blood urea nitrogen levels
features of severe falciparum malaria
how to treat
schizonts on blood film
parasitaemia >2%
hypogly
acidosis
temp over 39
severe anaemia
iv artesunate
if parasite count over 10% then exchange tranfusion
shock might show bacterial septicaemia
comps of malaria falciparum
cerebral malaria: seizures, coma
acute renal failure: blackwater fever, secondary to intravascular haemolysis
ards
hypogly
dic
how would you manage falciparum malaria?
uncomplicated falciparum:
1st line: artemisinin-based combo therapy (acts) - artemether+ lumefantrine, artesunat+ amodiaquine, artesunate+ mefloquine, artesunate + sulfadoxine-pyrimethamine, dihydroartemisinin + piperaquine
mc non falciparum malaria
vivax - central america and indian subcontinent.
then ovale (africa) and malariae.
knowlesi - south east asia
features of non falciparum malaria
fever headache splenomegaly
vivax/ovale: cyclical fever every 48 hrs.
malariae: cyclical fever every 72 hours. associated with nephrotic syndrome.
ovale and vivax: hypozoite stage : relapse after tx.
how would you treat non falciparum malaria?
artemisinin-based combo therapy (act) or chloroquine
if chloroquine resistant.
act avoid in pregnancy.
ovale/vivax: primaquine after acute tx with chloroquine to destroy liver hypnozoites and prevent relapse
incubation period of malaria
1-4 weeks after exposure.
vivax and ovale can lie dormant upto 4 yrs
how do you diagnose malaria
blood film.
edta bottle.
3 negative samples over 3 consecutive days needed to exclude.
side effect of primaquine
can cause severe haemolysis in g6pd pts
doxycline - use in malaria when to give etc
side effedcts
broad spect abx
se: diarrhoea , thrush. skin sensitivity to sun
take 2 days before until 4 weeks after endemic area travel.
antimalarial meds
proguanil with atovaquone
doxycycline
mefloquine - psych side effects. - anxiety,dep,abnormal dreams
chloroquine with proguanil
general advice preventing malaria
mosquito spray 50% DEET spray
nets and barriers
antimalarial meds
metastatic brain cancer can spread from?
lung - MC
breast
bowel
skin - namely melanoma
kidney
features of brain tumour
poss asx
progressive focal neurological symptoms
raised icp
features of raised icp
headache contant worse at night or on waking or coughing/straining.
vomiting
papilloedema on fundoscopy (paton lines)
altered mental state
ptosis unilateral
visual field defect
3rd and 6th nerve palsy
with papilloedema what do u see on fundoscopy?
blurring of optic disc margin
engorged retinal veins
haemorrhages around optic disc
paton lines - creases in retina around optic disc
loss of venous pulsation
elevated optic disc
what is a glioma?
tumour of glial cells in brain/spinal cord.
support/surround neurones.
include: astrocytes,oligodendrocytes, ependymal cells.
grade 1-4.
4 (glioblastoma multiforme)
3 types of glioma
astrocytoma - mc and aggressive is glioblastoma
oligodendroglioma
ependymoma
what is a meningioma?
histology
ix
tx
tumour of meninges.
benign
mass effect. = raised icp
arise from arachnoid cap and typically located next to dura.
spindle cells in concentric whirls and calcified psammoma bodies.
CT: contrast enhancement
MRI
tx: RADIO/ SURGERY
gliobastoma multiforme
prognosis
imaging
histology
tx
solid tumour with central necrosis and a rim that enhances contrast.
pleomorphic tumour cells border necrotic areas
surgery and postop chemo and/or radio.
dex: oedema
what is an acoustic neuroma?
classical history of it
vestibular schwannoma (benign tumour of schwann cells surrounding auditory nerve)
slow growing benign
intracranial tumour.
combo of :
vertigo
hearing loss
tinnitus
absent corneal reflex
features of acoustic neuroma
CN VIII :
vertigo, unilateral sensorineural hearing loss, unilateral tinnitus
cranial nerve V: absent corneal reflex
cranial nerve VII: facial palsy
bilateral vestibular schwannoma are seen in what condition?
neurofibromatosis type 2
ix of acoustic neuroma
mx
MRI of cerebelllopontine angle.
audiometry : only 5% of pts will have a normal one
surgery, radio.
where do acoustic neuromas occur?
cerebellopontine angle
unknown primary of metastatic disease what to do?
fbc u+E, lft, calcium, urinalysis, ldh
cxr
ct chest abdo pelvis
AFP , hCG
myeloma screen - if lytic bone lesions
endoscopy
psa - men
ca 125 - women with peritoneal malignancy or ascites
testicular US - men with germ cell tumour
mammography
tell me about pituitary tumours.
press on what?
sx?
mx
benign
optic chiasm press - bitemporal hemianopia
cause hormone def or release excessive hormones lead to:
- acromegaly
-hyperprolactinaemia
- cushings disease
- thyroxicosis
transphenoidal surgery
radio
bromocriptine - block excess prolactin
somatostatin analogue - block excess GH
symptoms of cerebellar disease
D - dysdiadokinesia, dysmetria, “drunk”
A - ataxia - limb,truncal
N - nystagmus - horizantal = ipsilateral hemisphere
I - intention tremor
S - slurred staccato speech, scanning dysarthria
H - hypotonia
unilateral cerebellar lesions cause what signs?
ipsilateral
causes of cerebellar disease
friedreichs ataxia
neoplastic: cerebellar haemangioma
stroke
alcohol
ms
hypothyroid
drugS: phenytoin, lead poisoning
paraneoplastic: 2 to lung cancer
What is normal pressure hydrocephalus?
reversible cause of dementia in elderly.
2 to reduced csf absorption at arachnoid villi.
could be due to head injury, subarachnoid haemorrhage or meningitis
classic triad of normal pressure hydrocephalus
urinary incontinence
dementia and bradyphrenia
gait abnormality
sx develop over a few months
imaging for normal pressure hydrocephalus
hydrocephalus with ventriculomegaly in absence of ,or out of proportion to , sulcal enlargement
how would you manage normal pressure hydrocephalus
comps of this tx
ventriculoperitoneal shunting
seizures
infection
intracerebral haemorrhage
mc cause of hydrocephalus
aqueductal stenosis = insuffiency drainage of csf.
chromosomal abnormality
arachnoid cysts
arnold-chiari malformation
presentation of normal pressure hydrocephalus
cranial bones in babies not fused at sutures until 2.
outward pressure on cranial bones so have enlarged and rapid increasing head circumference: occipitofrontal circumference
bulging anterior fontanelle
poor feeding and vomiting
poor tone
sleepiness
how does a ventriculoperitoneal shunt work?
drain csf from ventricles to other body cavity.
usually perioneal cavity.
what is neurofibromatosis?
genetic condition causing nerve tumours - neuroma
benign
type 1
type 2
neurofibromatosis type 1
gene found on which chromosome?
genetic component
chr 17
codes for neurofibromin - tumour suppressor protein.
autosomal dominant
features of neurofibromatosis type 1
C - cafe au lait spots (more than 15 mm diameter)
R - relative with nf1
A - axillary/inguinal freckling
BB - bony displasia, bowing of long bone or sphenoid wing dysplasia
I - iris hamartomas - lisch nodules - yellow-brown spots on iris
N - neurofibromas
G - glioma of optic pathway
what are neurofibromas?
plexiform neurofibroma?
skin coloured
raised
nodules / papules
smooth regular surface.
2 or more.
plexiform : larger irregular complex with multiple cell types.
neurofibromatosis type 2 on what chr?
tx
associations
genetic component
what it codes for
chr 22
codes for merlin - tumour supressor protein in schwann cells.
autosomal dominant.
associated with acoustic neuroma.
bilateral vestibular schwannoma
multiple intracranial scwannomas, meningiomas, ependymomas
surgery: resect tumour.
permanent nerve damage
comps of neurofibromatosis
malignant peripheral nerve sheath
gi stromal tumour
brain tumour
spinal cord tumour
increased cancer risk - breast and leuk
vision loss
scoliosis
behaviour/ld
renal artery stenosis
migraine
epilepsy
What is myasthenia gravis?
autoimmune affecting neuromuscular junction.
acetycholine receptor antibody blocks postsynaptic receptor block muscle activity.
features of myasthenia gravis
link with what condition
worse with activity
improves with rest
men and women - typically women under 40 men over 60
thymomas!!
autoimmune: pernicious anaemia, autoimmune thyroid disorder, rheumtoid, sle
thymic hyperplasia in 50-70%
more in women
2 antibodies that can cause myasthenia gravis
muscle specific kinase (MuSK) antibodies
Low density lipoprotein receptor related protein 4 (LRP4) antibody
how would you investigate for myasthenia gravis?
single fibre electromyography : high sensitivity
ct thorax - exclude thymoma
CK normal
antibodies to acetylcholine receptors - 85% pts and 40% for anti muscle specific tyrosine kinase antibodies
tensilon test: iv edrophonium reduces muscle weakness temp - dont use because of cardiac arrhythmia risk
mx of myasthenia gravis
long acting acetylcholinesterase inhibitor: pyridostigmine - 1st line
immunosuppression not started at diagnosis, but eventually need:
- prednisolone
- azathioprine, cyclosporine, mycophenolate mofetil
- thymectomy
how would you manage myasthenic crisis
plasmapheresis
iv immunoglobulins
symptoms of myasthenia gravis
affect proximal muscles of limbs and small muscles of head and neck :
hard to climb stairs , stand from seat , raise hand above head
diplopia
ptosis
facial movement weakness
dysphagia
fatigue chewing
slurred speech.
what examinations could you do for myasthenia gravis?
check for thymectomy scar
test for fvc
repeat blinking - ptosis
prolonged upward gaze - diplopia
repeat abduction of 1 arm 20 times - unilateral weakness
what drugs can exacerbate myasthenia
penicillamine
quinidine, procainamide
beta block
lithium
phenytoin
abx: gentamicin, macrolides, quinolones, tetracycline
what is narcolepsy
chronic neuro disorder affects brain ability to control sleep wake cycle
hla dr2
low levels of orexin (hypocretin) - protein responsible for controlling appetite and sleep patterns
early onset of REM sleep
features of narcolepsy
teenage
hypersomnolence
cataplexy - sudden loss of muscle tone often triggered by emotion
sleep paralysis
vivid hallucinations on going sleep/waking
ix for narcolepsy
multiple sleep latency EEG
mx for narcolepsy
daytime stimulants - modafinil
nightime sodium oxybate
What is chronic fatigue syndrome?
epidemiology
at least 3 months of disabling fatigue affecting mental and physical function over 50% of time in absence of other disease.
more in females
past psych hx isnt rf
features of chronic fatigue syndrome
sleep problems: insomnia, hypersomina, unrefreshing sleep, disturbed sleep-wake cycle
headache
muscle/joint pain
painful lymph node no enlarged
sore throat
nausea
palpitations
dizziness
general malaise
physical/mental exertion
cognitive dysfunction : difficulty thinking, concentration issue, impairement of short term memory.
how would you investigate chronic fatigue syndrome
screening bloods
fbc
u e
lft
glucose
tft
esr
crp
calcium
ck
ferritin
coeliac
urinalysis
how would you diagnose chronic fatigue syndrome?
how would you manage?
if sx persist 3 months
refer to cfs
energy mx: self management
physical activity- if they feel ready. (and if part of cfs only)
graded exercise therapy
cbt: supportive rather than curative
What is wernickes encephalopathy?
rarer causes
thiamine deficiency caused by alcoholism.
neuropsychiatric
persistent vomiting
stomach cancer
diet def
classic triad of wernickes encephalopathy
opthalmoplegia
nystagmus
ataxia
encephalopathy
petechial haemorrhage in mamillary bodies and ventricular walls
features of Wernickes encephalopathy
oculomotor dysfunction- nystagmus , Opthalmoplegia: lateral rectus palsy, conjugate gaze palsy
gait ataxia
encephalopathy: confusion, disorientation, indifference, inattentiveness
peripheral sensory neuropathy
Investigations of Wernicke’s Encephalopathy
tx
decreased red cell transketolase
MRI
urgent replacement of thiamine
relationship of wernickes with korsakoff
addition of antero and retrograde amnesia and confabulation.
calculation of alcohol units
volume ml * alcohol content % /1000 = units of alcohol
units of alcohol
no more than 14
spread even over 3 or more days
no more than 5 units in single day.
binge: 6 or more women. 8 or more men.
typical triad of menieres disease
hearing loss
vertigo
tinnitus
what is menieres disease?
long term inner ear disorder.
recurrent attacks
fullness in ear
excessive buildup of endolymph in labyrinth of inner ear - higher pressure than normal.
excessive pressure and progressive dilation of endolymphatic system.
presentation of menieres disease
typical 40-50 can happen to anyone.
unilateral episode of vertigo hearing loss and tinnitus
vertigo: episodes. 20 mins.
hearing loss: fluctuates at first, then more pernanent.
tinnitus: episodes of vertigo. eventually permenant. unilaterla.
fullness
unexplained falls - without loss of consciousness
imbalance - after vertigo.
spontaneous nystagmus - during acute attack.
how would you diagnose menieres disease
how would you manage?
clinical.
audiology asessment
manage sx
prophylaxis
acute: buccal/intramuscular prochlorperazine, antihistamines (cyclizine, cinnarizine, promethazine)
prophylaxis: betahistine or vestibular rehab
what is diabetic neuropathy?
how to tx
sensory loss
glove and stocking
lower legs first.
1st line: amitriptyline, duloxetine, gabapentin or pregabalin
tramadol: rescue for neuropathic pain
topical capsaicin - localised neuropathic pain - post herpetic neuralgia.
pain management clinic
what does gastroperesis occur secondary to ?
sx?
mx?
autonomic neuropathy
erratic bg control, bloating, vomiting
metoclopramide, domperidone, erythromycin
what is trigeminal neuralgia?
pain syndrome.
severe unilateral pain.
can be idiopathic.
compression of trigeminal roots by tumours or vascular problems poss.
brief electric shock like pain - abrupt in start and finish.
how would you manage trigeminal neuralgia?
1st line: carbamazepine
red flag sx suggesting serious illness to do with trigeminal neuralgia
age before 40
fhx of ms
optic neuritis
deafness
sensory changes
hx of skin/oral lesions that could spread perineurally
pain only in opthalmic division of trigeminal nerve (eye socket, forehead, nose) or bilaterally
particularly susceptible areas for trigeminal neuralgia
pain evoked by
pain remited?
small areas in nasolabial fold
light touch
washing
shaving
smoking
talking
brushing teeth
pain remits for variable periods
what is horners syndrome?
combo of sx that happen when group of nerves known as sympathetic trunk is damaged.
eye and surrounding area on 1 side of face.
features of horners syndrome
miosis - small pupil
ptosis
enophthalmos - sunken eye
anhidrosis - loss of sweating one side
using anhidrosis to decipher where the lesion is for horners syndrome
face arm and trunk: central lesion
face: pre-ganglionic
no anhidrosis: post-ganglionic
central lesion causes of horners
pre ganglionic
post ganglionic
stroke, syringomyelia, ms, tumour, encephalitis
pancoasts tumour , thryoidectomy, trauma, cervical rib
carotid artery dissection, carotid anerusym, cavernous sinus thrombosis, cluster headache
heterochronic - difference in iris colour is seen in what?
congenital horners
horners - what are apraclonidine drops
alpha adrenergic agonist
cause pupillary dilation
produces mild pupillary construction in normal pupil.
what is gca? temporal arteritis?
what condition is it associated with
mc in who?
key comp?
medium and large artery vasculitis systemic.
strong link with polymyalgia rheumatica
mc: older white pts
vision loss - often irreversible
presentation of temporal arteritis - gca
unilateral headache - severe around temple and forehead.
scalp tenderness - brushing hair
jaw claudication
blurred/double vision
loss of vision in untx.
temporal artery tender and thickened to palpation with reduced or absent pulsation
what other features might you have for gca?
sx of pmr: shoulder and pelvic girdle pain and stiffness
systemic sx: wt loss, fatigue, low grade fever
muscle tenderness
carpel tunnel syndrome
peripheral oedema
how would you diagnose gca?
raised esr - 50mm/hr
temporal artery biopsy : multinucleated giant cells (skip lesions)
CK and EMG - normal
duplex uss - hypoechoic halo sign and stenosis of temporal artery
vision testing
what should you expect to see in vision testing in gca?
anterior ischaemic optic neuropathy - occlusion of posterior ciliary artery. - FUNDOSCOPY SHOWS SWOLLEN PALE DISC, BLURRED MARGINS
poss amaurosis fugax
permanent vision loss poss? - sudden
diplopia
how would you manage gca?
steroids straight away.
- 40-60 mg pred daily with no visual sx or jaw claudication
- 500mg - 1000mg methylpred if above
steroid slowly weaned over 1-2 yrs.
aspirin 75mg - decrease vision loss/strokes
ppi - omeprazole - gastroprotection on steroids
bisphosphonates and calcium and vit d - bone protection
What is meralgia paresthetica ?
localised sensory sx of outer thigh caused by compression of lateral femoral cutaneous nerve.
mononeuropathy - one nerve
presentation of meralgia paresthetica?
abnormal sensation - dysaesthesia
and loss of sensation - anaesthesia inlateral femoral cutaneous nerve distribution.
skin of upper outer thigh affected.
burning
numbness
pins and needles
cold sensation
localised hair loss.
in meralgia paresthetica , sx aggravated by?
walking
standing long time
improve when sit down.
worse with extension of hip on affected side.
how to manage meralgia paresthetica?
rest
looser clothing
wt loss
physio
para
nsaids
neuropathic analgesia - amitriptyline, gabapentin, pregabalin, duloxetine
steroid/anaesthetic local nijection
surgery: decompression, transection, resection
lateral femoral cutaneous nerve originates from?
l1 l2 and l3 nerve roots.
being psoas muscle
around surface of iliacus muscle
under inguinal ligament onto thigh.
What is Cerebral Palsy?
non-progressive lesion motor pathways in developing brain.
disorder of movement and posture.
causes of cerebral palsy
antenatal
intrapartum
postnatal
antenatal 80%
- cerebral malformation
-congenital infection (rubella, toxoplasmosis, CMV)
intrapartum 10% =
- birth asphyxia/trauma
-preterm birth
postnatal 10%
- intraventricular haemorrhage
-meningitis
-head trauma
classifying cerebral palsy
4 different types
spastic 80%
- hemiplegia, diplegia or quadriplegia
-increased tone (hypertonia) and reduced function resulting from damage to UMN
dyskinetic:
- damage to basal ganglia and substantia nigra
-athetoid movements and oro-motor problems . muscle tone problems (hypertonia/hypotonia) causing the athetoid etc.
ataxic:
- caused by damage to the cerebellum with typical cerebellar signs
- problems with coordinated movement due to above.
mixed: mixed of spastic,dyskinetic and/or ataxic features.
patterns of spastic cerebral palsy
monoplegia: 1 limb affected
hemiplegia: one side of body affected
diplegia: 4 limbs affected by mostly legs
quadriplegia: neck down all 4 limbs - with seizures, speech disturbance and other impairements
what non-motor problems might a cerebral palsy patient have?
learning difficulties - 60%
epilepsy 30
squints 30%
hearing impairement 20
How would you manage cerebral palsy?
tx spasticity:
-oral diazepam
-oral and intrathecal baclofen (muscle relaxant), botulinum toxin type A , orthopaedic surgery and selective dorsal rhizotomy.
- anticonvulsants, analgesia prn
physio - stretch and strength muscles prevent muscle contractures.
OT
SLT
DIETICIAN - peg feeding poss?
ORTHO SURGEON - release contractures or length tendons (tenotomy)
glycopyrronium bromide: excessive drooling.
anti-epileptic - seizures
what condition makes children at risk of developing cerebral palsy?
hypoxic-ischaemic encephalopathy
signs and symptoms of cerebral palsy
failure to meet milestones
learning difficulty
feeding or swallowing problems
problems with coordination, speech or walking
increased/decreased tone, generally or in specific limbs
hand preference below 18 months .
based on neuro exam what to each of these indicate:
hemi/di plegic gait
broad based gait/ataxic gait
high stepping gait
waddling gait
antalgic gait
UMN lesion
cerebellar lesion
foot drop/lmn lesion
pelvic muscle weakness due to myopathy
indicates localised pain
with a UMN lesion tell me about:
inspection
tone
power
reflexes
muscle bulk preserved
hypertonia
slightly reduced
brisk
with a lmn tell me about:
inspection
tone
power
reflex
reduced muscle bulk with fasciculations
hypotonia
dramatically reduced
reduced
complications and associated conditions of cerebral palsy
learning disability
epilepsy
kyphoscoliosis
muscle contractures
hearing and visual impairment
gastro-oesophageal reflux
what is hypoxic ischaemic encephalopathy?
neonates.
hypoxia during birth.
causes of HIE
anything that leads to asphyxia (deprivation of oxygen) to the brain.
eg:
- maternal shock
-intrapartum haemorrhage
-prolapsed cord - causing compression of the cord during birth - nuchal cord - where the cord is wrapped around the neck of the baby
grading HIE
mild
moderate
severe
Sarnat Staging
mild:
- poor feeding, generally irritability and hyper-alert
-resolves within 24 hours
-normal prognosis
moderate:
- poor feeding, lethargic, hypotonic, seizures
-can take weeks to resolve
-up to 40% develop cerebral palsy
severe:
- reduced gcs, apnoeas, flaccid and redcued or absent reflexes
-upto 50% mortality
-upto 90% develop cerebral palsy
when to suspect HIE
neonate
acidosis (ph under 7) on umbilical abg
poor Apgar score
features of mild,mod,severe HIE
evidence of multi organ failure.
how would you manage HIE
supportive care with neonatal resus
optimal ventilation, circulatory support, nutrition, acid base balance and seizure tx.
therapeutic hypothermia - protect brain from hypoxic injury.
explain therapeutic hypothermia?
how to do it
ideal temp
intention of it.
reduces the risk of ?
baby near/at term that have HIE.
cool core temp of baby.
transfer baby to neonatal ICU. - cooling blankets and cooling hat.
target : 33 and 34 - measure using rectal probe.
continue for 72 hours
then warm baby to normal temp over 6 hours.
reduce inflammation and neurone loss after acute hypoxic injury.
reduces risk of cerebral palsy, developmental delay, LD, blindness and death
What is Bell’s Palsy?
acute unilateral idiopathic facial nerve paralysis.
unknown aetiology
herpes simplex virus poss?
peak incidence: 20-40 yrs.
condition mc in pregnant women.
features of bell’s palsy
lmn facial nerve palsy - forehead affected
- in contrast, umn lesions spares the upper face
post-auricular pain (may precede paralysis)
altered taste
dry eyes
hyperacusis
how would you manage bells palsy?
no tx
prednisolone only
antivirals + prednisolone
all pts: oral pred (50mg for 10 days or 60 mg for 5 days followed by 5 day reducing regime of 10mg a day ) within 72 hrs of onset.
debate about adding antiviral: alone not recommendation. - give for severe facial palsy
eye care important: prevent exposure keratopathy.
- artificial tears and eye lubricant.
- if cant close eye at bedtime tape it with microporous tape
follow -up for bells palsy
if paralysis shows no improvement after 3 weeks, refer to ent
plastic surgery: long standing weakness: several months
prognosis of bells palsy
full recovery 3-4 months.
if untx 15% - permanent moderate to severe weakness
What is epilepsy?
types
seizure tendency.
transient episodes of abnormal electrical activity in brain.
generalised tonic-clonic
focal seizures
absence
atonic
myoclonic
infantile spasms
febrile convulsions
What are febrile convulsions?
age of onset
mc type of seizure here
clinical features
seizures provoked by fever in otherwise normal kids.
6 months and 5 years.
tonic-clonic
usually occur early in viral infection as temp rises rapidly
seizures brief: last less than 5 mins
types of febrile convulsion
simple
complex
febrile status epilepticus
simple:
- less than 15 mins
-generalised seizure
-typically no recurrence within 24 hours
-should be complete recovery within an hr
complex:
- 15-30 mins
-focal seizure
-may have repeat seizures within 24 hours
febrile status epilepticus :
- over 30 mins
Mx of Febrile Convulsion
following a seizure
ongoing
admit if first or features of complex seizure
phone ambulance if seizure over 5 mins.
benzodiazepine rescue med: rectal diazepam or bvuccal midazolam
regular antipyretics: dont reduce chance of them occuring
prognosis of febrile convulsions
risk of another one is 1 in 3. depends on:
age of onset under 18months
fever under 39
shorter duration of fever before seizure
fhx of them
rf for developing epilepsy post febrile convulsions
fhx of epilepsy
complex febrile seizures.
background of neurodevelopmental disorder
if no rf@ 2.5% risk of developing it.
if kids have all 3 features 50% risk
what is benign rolandic epilepsy?
how to ix and what does it show
prognosis
features
form of childhood epilepsy occurs between 4 and 12.
EEG - centrotemporal spikes
excellent prognosis - seizures stop by adolescence
seizures at night.
partial seizures (paresthesia affect face) but secondary generalisation may occur (parents may only report tonic-clonic movements)
Using Contraception in epilepsy what factors are to be considered?
effect of contraceptive on effectiveness of anti-epileptic
effect of anti-epileptic on effectiveness of contraceptive
potential teratogenic effects of anti-epileptic if women becomes pregnant
if women is taking phenytoin carbamazepine barbiturates primidone topiramate oxcarbazepine what to do?
for contraception in epileptic pt
ukmec 3 : the COCP and POP
ukmec 2 : implant
ukmec 1 : depo-provera, IUD,IUS
use condom
if COCP : min of 30 ug of ethinylestradiol
for lamotrigine if women takes what to do?
contraceptionin epileptic pt
use condom
ukmec 3 : cocp
ukmec 1: pop, implant, depo-provera, Iud, ius
if COCP: min or 30 ug of ethinylestradiol
what conditions are associated with epilepsy?
cerebral palsy: 30% have it
tuberous sclerosis
mitochondrial diseases
what is an alcohol withdrawal seizure?
mechanism
tx
pt hx of alcohol excess suddenly stopped drinking.
36 hours after drink cessation.
give benzodiazepine after stopping.
chronic alcohol enhances gaba mediated inhibition in cns and inhibits nmda-type glutamate receptors.
alcohol withdrawal dose the opposite
what are psychogenic non-epileptic seizures?
pseudoseizures
epileptic-like seizures but no electrical discharges.
hx of mental health or personality disorder
define a focal seizure
partial seizure.- start in temporal lobe.
start in a specific area , one 1 side of brain.
varied awareness.
30 yr old women told by her husband she wakes at night, grunting sound, lip smacking, non responsive during ep. after minute falls asleep again.
focal impaired awareness - explained above.
classified into
motor: jacksonian march
non-motor : deja vu, jamais vu
or other features like aura
sx: affect hearing speech memory and emotions.
- hallucinations
-memory flashbacks
-deja vu - doing strange things on autopilot
generalised seizure define
involve networks on both sides of the brain at onset.
lose conciousness immediately.
motor: tonic clonic
non motor: absence
specific types:
-tonic clonic - grand mal
- tonic
-clonic
-typical absence - petit mal
- myoclonic: brief,rapid muscle jerks
- atonic
unknown onset seizure - what is it?
unknown origin of seizure
focal to bilateral seizure - what is it
starts on 1 side of brain in specific area before spreading to both lobes
previously called secondary generalised seizure
what is infantile spasms - wests syndrome
features
eeg:
secondary to what?
prognosis
brief spasms in first few months of life.
- flexion of head, trunk, limbs - extension of arms (salaam attack) : 1-2 secs, repeat upto 50 times
- progressive mental handicap
- eeg: hypsarrhythmia
- 2nd to serious neuro abnormality like: TS,encephalitis, birth asphyxia) or cryptogenic
poor prognosis
what is lennox-gastaut syndrome?
onset
eeg
tx
1-5 years
poss extension of infantile spasms - 50% have hx
eeg: slow spike
ketogenic diet poss
90% moderate-severe mental handicap
atypical absences, falls, jerks
what is juvenile myoclonic epilepsy (janz syndrome)
features
tx
typical onset: teens, more in girls
- infrequent generalised seizures
- often in morning
- daytime absences
- sudden shock like myoclonic seizure
responds well to sodium valproate
tell me about typical absence seizures: petit mal
onset
duration
eeg
tx
prognosis
onset: 4-8 years
duration : few-30 seconds. no warning, quick recovery: often many per day
eeg: 3Hz, generalised, symmetrical
sodium valproate, ethosuximide
good prognosis: 90-95% become seizure free in adolescence
if a focal seizure happens starts in occipital lobe (visual) what happens?
floaters/flashes
if a focal seizure happens in parietal lobe what happens ? (sensory)
paresthesia
if a focal seizure happens in frontal lobe? (motor)
head/leg movements, posturing
post-ictal weakness (todd’s paresis),
jacksonian march (clonic movements travelling proximally)
if a focal seizure starts in temporal lobe what can i expect?
last around 1 min - automatisms (lip smacking/grabbing/plucking) common
with/without impairement of conciousness or awareness
aura in most:
- rising epigastric sensation
-psychic or experiental phenomena like deja vu , jamais vu
-less common: hallucination (auditory,gustatory,olfactory)
sodium valproate is associated with what issue for maternal kids?
neural tube defects
risk of neurodevelopmental delay in kids after maternal use of it.
DONT USE IN PREGNANCY AND WOMEN OF CHILDBEARING AGE UNLESS NECESSARY.
which of the epileptic drugs is seen as least teratogenic or older antiepileptics?
carbamazepine
phenytoin is associated with what issue?
antiepileptic
what to give with it. this is to prevent what?
cleft palate
vit k
last month of pregnancy
prevent clotting disorders in newborn
is breast feeding safe for mothers taking anti-epileptics?
is there an exception to the rule?
yes
NO BARBITURATES
women want to get pregnant epileptic what should they take and why?
folic acid 5mg per day well before pregnancy
minimise risk of neural tube defects
briefly explain what an absence seizure is?
tx
in kids.
pt becomes blank stares into space and abruptly returns to normal.
unaware of surroundings, wont respond.
10-20 seconds.
stop when they get older
1st line: ethosuximide
2nd line:
m - sodium valproate
f: lamotrigine or levetiracetam
carbamazepine - exacerbate absence seizures
how would you tx focal seizures ?
1st line : lamotrigine or levetiracetam
2nd line: carbamazepine, oxcarbazepine or zonisamide
the rules are you start antiepileptics after second seizure.
in what case would you start after first?
pt has neuro deficit
brain imaging shows structural abnormality
EEG shows unequivocal epileptic activity.
pt or their fam or carer consider the risk of having a further seizure unacceptable
generalised tonic clonic seizure tx?
male: sodium valproate
female: lamotrigine or levetiracetam
under 10, unlikely to need tx when old enough to have kids or women unable to have children can be given sodium valproate first line.
how to atonic seizures present?
tx?
drop attacks.
brief lapse in muscle tone.
no more than 3 minutes.
childhood begin.
indicative of lennox-gastaut syndrome.
mx:
- m: sodium valproate
- f: lamotrigine
how do myoclonic seizures present?
tx?
sudden brief muscle contractions - sudden jump.
awake during.
happen in kids as part of juvenile myoclonic epilepsy.
tx:
- m - sodium valproate
- f : levetiracetam
rule for patient who drives on anti-epileptic
rule for patient taking other meds
women wishing to get pregnant
cant drive for 6 months after seizure. if established epilepsy must be fit free for 12 months.
antiepileptics induce/inhibit p450 system - varied metabolism of meds like warfarin.
teratogenic esp sodium valproate. breastfeeding safe except barbiturates.
sodium valproate
MoA
uses
Adverse effects
increases GABA activity
used for generalised seizures in males
increased apetite
weight gain
alopecia: regrowth may be curly
p450 enzyme inhibitor
ataxia
tremor
hepatitis
pancreatitis
thrombocytopenia
teratogenic - neural tube defects - dont use in women of reproductive age
carbamazepine
moa
uses
adverse effects
binds to sodium channels increasing their refractory period
2nd line for focal seizures
p450 enzyme inducer
dizziness and ataxia
drowsiness
leucopenia
agranulocytosis
SIADH
visual disturbances (especially diplopia)
aplastic anaemia
lamotrigine
moa
uses
adverse effects
sodium channel blocker
used for variety of generalised and focal seizures
stevens johnson syndrome or DRESS SYNDROME. - life threatening skin rashes.
leukopenia
phenytoin
moa
uses
adverse effects
binds to sodium channels increasing their refractory period
no longer first line due to side effect profile
p450 enzyme inducer
dizziness and ataxia
drowsiness
gingival hyperplasia, hirsutism, coarsening of facial features
megaloblastic anaemia (folate and vit d def)
peripheral neuropathy
enhanced vit d metabolism causing osteomalacia (vit d def)
lymphadenopathy
rescue medication for epilepsy if they dont terminate spontaneously ie after 5-10 mins
benzodiazepines like diazepam
administer rectally or intranasally/under tongue.
if still fits: status epilepticus. - medical emergency - hospital tx required.
mx: further benzodiazepine med, infusion of antiepileptic or general anesthetic.
ix for epilepsy
good history
eeg: typical patterns of it. after the second simple tonic clonic do.
MRI brain: structure of brain.
ecg - exclude heart problems
blood electrolytes - sodium, potassium, calcium , magnesium
bg: hypoglycaemia and diabetes
blood cultures, urine cultures and lp where sepsis, encephalitis or meningitis is suspected
general advice for epileptic patients
take showers not baths
cautious with heights, traffic, heavy/hot/electric equipment
be very catious with swimming unless seizures well controlled and they are closely supervised.
2 side effects of ethosuximide
night terrors
rashes
mx of seizures physically
pt in safe position - carpeted floor
recovery position if poss
something soft under head
remove obstacles that could lead to injury
note the time at start and end
call ambulance if more than 5 mins or 1st seizure.
what is status epilepticus?
mx:
medical options in community ?
med emergency
seizure lasting more than 5 mins or 2 or more seizures without regaining consciousness in interim.
ABCDE approach
secure airway
high conc ox
assess cardiac and resp function
check bg levels
iv access - insert cannula
iv lorazepam - repeated after 10 mins if the seizure continues.
if persist final step is iv phenobarbital or phenytoin. intubation and ventilation to secure airway- transfer to icu.
med options in community:
- buccal midazolam
- rectal diazepam
What is an extradural haematoma?
caused by?
collection of blood most likely where?
what artery?
collection of blood between skull and dura.
trauma - low impact. - blow to head or fall.
in temporal region since the thin skull at pterion overlies the middle meningeal artery - vulnerable to injury
classic presentation of extradural haematoma?
and why
pt initially loses, briefly regains and then again loses consciousness after low-impact head injury.
brief regain in conciousness termed lucid interval.
lost due to expanding haematoma and brain herniation.
as haematoma expands the uncus of temporal lobe herniates around tentorium cerebelli and pt gets:
fixed and dilated pupil due to compression of parasympathetic fibres of 3rd cranial nerve
imaging of extradural haematoma
biconvex - lentiform hyperdense collection around surface of brain. limited by the suture lines of the skull.
how would you manage extradural haematoma?
if no neurological deficit, cautious clinical and radiological observation is appropriate.
definitive: craniotomy and evacuation of the haematoma.
what is a subdural haemorrhage?
collection of blood deep to the dural layer of meninges.
blood not within substance of brain - extra-axial or extrinsic lesion.
can be unilateral or bilateral
classifying subdural haemorrhage by age
acute: sx develop within 48 hrs of injury, characterised by rapid neurological deterioration
subacute: sx manifest within days to weeks post-injury, with more gradual progression
chronic: common in elderly, develop over weeks to months. pts may not recall specific head injury
typical presentation of subdural haematoma
hx of head trauma - minor to severe.
pt exhibit lucid interval followed by gradual decline in consciousness.
this pattern common in chronic sdh.
headache
confusion
lethargy
clinical features of subdural haematoma
neurological sx
other associated features
altered mental status: mild confusion to deep coma. fluctuations in level of conciousness common.
focal neuro deficits: weakness on 1 side of body, aphasia, visual field defects, depending on haematoma location
headache: often localised to 1 side, worsening over time
seizures: may occur, particularly in acute/expanding haematoma.
behavioural and cognitive changes in subdural haemorrhage
memory loss: especially in chronic sdh
personality change: irritability, apathy, depression
cognitive impairement: difficulty with attention, problem-solving and other executive functions
physical examination findings in subdural haemorrhage
papilloedema: indicates raised icp
pupil changes: unilateral dilated pupil, especialy on side of the haematoma, indicated compression of 3rd cranial nerve.
gait abnormalities: including ataxia or weakness in 1 leg
hemiparesis or hemiplegia: reflecting the mass effect and midline shift
talk to me about acute subdural haematoma
ct imaging
tx
collection of fresh blood within subdural space caused by high impact trauma. - often other brain underlying injuries.
sx depends on size of the compressive acute sdh.
could be from indental finding to severe coma and coning due to herniation.
ct: 1st line - crescentic collection not limited by suture lines.
hyperdense (bright) in comparison to brain.
large acute subdural haematomas: push on brain (mass effect) cause midline shift or herniation.
tx:
- small/incidental: observe
surgery: monitor icp and decompressive craniectomy
tell me about chronic subdural haematoma
who can have it and why?
presentation
imaging
tx
collection of blood within subdural space present for weeks to months.
rupture of small bridging veins within subdural sapce rupture, slow bleeding.
elderly and alcoholic - they have brain atrophy so fragile/taut bridging veins
px:
- several week to month progressive hx of either confusion, reduced gcs or neuro deficit.
infants have fragile bridging veins to and can rupture in shaken baby syndrome.
ct:
- crescentic in shape, not restricted by suture lines and compress the brain (mass effect)
- hypodense (dark) compared to substance of brain.
- small in size and no neuro deficit: conservatively manage
- if pt confused and associated neuro def or severe imaging findings: - surgical decompression with burr holes.
What is a subarachnoid haemorrhage
mc cause
intracranial haemorrhage , blood in subarachnoid space - deep to the subarachnoid layer of meninges.
head injury. - traumatic sah.
if not trauma its called sponteneous sah
causes of spontaneous sah
intracranial aneurysm - saccular berry aneursym - 85% cases - conditions associated with this are
- htn
-adults pkd
- ehlers-danlos
-coarctation of aorta
- arteriovenous malformation
-pituitary apoplexy
-mycotic (infective) aneurysms
classic presenting features of subarachnoid haemorrhage
headache - sudden onset thunderclap (hit with baseball bat) - severe worst of life occipital
- peak in intensity within 1-5 mins
- poss hx of a less severe sentinel headache weeks prior to presentation
n+ v
meningism - photophobia, neck stiffness
coma
seizures
ecg - st elevation - secondary to either autonomic neural stimulation from hypothalamus or elevated levels of circulating catecholamines
how would you ix for subarachnoid haemorrhage
non-contrast ct head: 1st line
- acute blood (hyperdense/bright on ct) - distributed in basal cisterns, sulci and if severe ventricular system
if ct head done within 6 hours of sx onset and is normal : dont do LP consider alternative diagnosis.
if ct head done more than6 hrs after sx onset and normal do a LP: should be done at least 12 hrs after sx to allow development of xanthochormia (rbc breakdown)
xanthochromia help distinguish true sah from traumatic tap (blood introduced by lp procedure)
csf findings: normal or raised opening pressure
if ct shows evidence of sah: refer to neurosurgery
once i have confirmed a spontaneous sah what other ix doi need to do and why?
to identify causative pathology
ct intracranial angiogram - identify vascular lesion eg aneurysm or AVM
+/- digital subtraction agiogram - catheter angiogram
important predictive factors for SAH
conscious level on admission
age
amount of blood visible on CT head
how would you manage sah?
supportive:
- bed rest
- analgesia
-vte prophylaxis
- discontinuation of antithrombotics (reversal of anticoagulation if present)
- vasospasm is prevented using : oral nimodipine
- intracranial aneurysms at risk of rebleeding so require intervention within 24 hrs - coil by interventional neuroradiologists, minority need craniotomy and clipping
complications of aneurysmal sah
re-bleeding: 10% cases within 1st 12 hrs.
if suspected - sudden worsening of neuro sx - repeat ct - high mortality 70%
hydrocephalus - tx temp with external ventricular drain (csf divert to bag at bedside) or long term ventriculoperitoneal shunt
vasospasm - delayed cerebral ischaemia - 7-14 days after osnet
- ensure euvolemia - normal blood vol
- consider tx with vasopressor if sx persist
hyponatremia - due to siadh
seizures
general risk factors for all intracranial bleeds
head injuries
htn
aneurysms
ischaemic strokes
brain tumour
thrombocytopenia
bleeding disorder s- haemophilia
anticoag - doac or warfarin
what is the glasgow coma scale?
total score
min score
score that is diagnostic
and what to do if so and why?
tool for consciousness
based on eyes verbal response and motor response.
15/15 max
min 3/15 -
8/15 - needs airway support , risk of airway obstruction or aspiration = hypoxia and brain injury
6 - obeys commands
5 - oriented, localises pain
4 - spontaneous eyes, confused verbal response, normal flexion
3 - speech, inappropriate words, abnromal flexion
2 - pain, incomprehensible sounds, extends
1 - none none none
What is cauda equina?
presentation main
late diagnosis lead to
rare
where lumbosacral nerve roots that extend below the spinal cord are compressed.
any pt presenting with new/worsening lower back pain.
late diagnosis lead to permanent nerve damage results in long term leg weakness and urinary/bowel incontinence.
causes of cauda equina
mc cause: central disc prolapse - occurs at l4/l5 or l5/s1
tumours: primary or mets
infection: abscess, discitis
trauma
haematoma
presentation of cauda equina
low back pain
bilateral sciatica - 50% pts
reduced sensation/pins and needles in perianal area
decreased anal tone:
- good practice to check anal tone in pts with new-onset back pain.
- poor sensitivity and specificity
urinary dysfunction:
- incontinence, reduced awareness of bladder filling, loss of urge to void
- incontinence is a late sign that may indicate irreversible damage
ix for cauda equina
mx of cauda equina
urgent MRI
surgent decompression
