Neurology + opthal Flashcards
Seizure history?
What in PMH?
Meds?
Before
-Prodromal
- Infective causes eg Headache Fever
- D&V -> electrolytes
- Drug use / alcohol
- Sleep deprivation (especially new presentation in students)
- Stress
- Blood sugars
- Any headaches with vomiting
- Head trauma
During
- Collateral
- Stiff and rigid (vs floppy and flaccid) followed by rhymic movements
- tongue biting - LATERAL
- faecal incontinence
After
- Any immediate first aid
- Post ictal at least several minutes
- Weakness (tods paresis)
PMH
- Known seizures
- Malignancy - breast renal melanoma
- Immunosuppression (infection)
Meds
Meidcation compliance
recent abx - cipro
Clozapine
Anticoagulants
Social
Profession building / HGV
Driving
Alcohol
Difference in prodrome of vagal vs seizure
Vagal
- Nausea, tunnel/darkening vision, tinnitus
Seizure
- Flashing lights, blurring of vision (rather than dimming)
-Smell or taste
- Numbness tingling
What is tods pareisis how long does it last
Unilateral weakness post seizure - often 48hrs
2 most common cancers mets to brain
Breast
RCC clear cell
melanoma
no driving with epilepsy / seizure?
1 year seizure free
6 months post 1st seizure
Ultimately case by case up to DVLA
What should you advice people who may have had a seizure and work eg on building site
Need to contact their occupational health department
seizure exam
Look
- Mouth and tongue
- Head, neck, shoulder injuries
Focal signs eg SOL
- Visual fields
- Eye movements
- Pronator drift
- Gait
- Tone and power
What are the causes of seizures you should present and explain to examiner why / why not in this case?
Genetic - idiopathic epilepsy
Structural
- SOL
- Trauma Bleeding
- CVA in elderly
Infective
- TB Malaria HIV
- Meningitis
Metabolic
- Alcohol withdrawal
- Uraemia
- Heaptic encephalopathy
- Low sodium
Autoimmune
Investigations first seizure
Looking to rule out
- Encephalitis
- Structural cause
- HypoGlyc, HypoNa, HyperUrea
- Alcohol
Baseline obs
- Temp
- LS BP
- Finger prick glucose
Bloods
FBC / CRP
Renal function
Electrolytes
LFTs - alcohol excess
CT head - any SOL
EEG
1st seizure clinic
Advice for new epilepsy
Work
- Any changes
- Occy health
Driving
- No driving until 1 year seizure free
Activities
- Shouldn’t stop doing things they enjoy but may need to modify
- No swimming alone
- High level climbing eg roofer
Shower rather than bath
Mothers
- Breast feeding -ideally sat on floor
- Changing baby.- floor mat
Pregnancy and contraception
- Antiepileptic effects on meds (COCP)
- >Barrier methods
- May need to change siezure meds
- Folic acid for at least 3 months before ( neural tube defects)
- If only option is valproate - should be on pregnancy prevent program
Anti epileptics in pregancy
Aim for single medication at lowest dose
Lamotrigine / Leveteracitam for labias
Difference between optic neuopathy and atrophy
Neuropathy - Optic nerve not working
Atrophy - Permanent damage to optic nerve
Optic neuritis history
HPC
- Describe whats happening
- Time period
- intermittent vs constant
- Both eyes or one?
- Look like looking through frosted glass - Blurred vision
- Or seeing 2 of everything - double vision
- Loss of visual field
- Any issues with acuity?
- Colour vision - RED - difference between eyes?
- Pain?
Additional symptoms
- Issues when cough or bend over = IIH
- Pulsatile tinnitus
- Any issues post hot shower / bath
PMH
- Any eye problems / glassess - Been to opticians?
- Currently pregnant?
- Migraine
- Vascular risk factors
PMH
Social
How does time scale relate to the aetiology of vision loss
Months - inherited
Weeks - possibly malignant
Days - Inflammatory
sudden - Vascular
Describe the visual pathway in 3 parts
Lesion at each of these spots
- Optic nerve to optic chaism
- Optic tract (chiasm -> lateral geniculate body)
- Optic radiation (lateral geniculate body -> visual cortex)
* inferior fibres in temporal
* Superior fibres through parietal
Curtain coming down over vision =
Amaurosis fugax
GCA causes what type of optic neuritis
Anterior ischemic
- vascular
Visual field disturbance time period of 20 mins with headache most likely
Migraine
Visual symptoms when getting out of hot bath
Uhthoff’s phenomenon
[Due to bodys repair of myelin sheath not being as strong
- Doesn’t cause long term damage
Groups of causes of optic neuropathy
Ischemic - More likely in older vascular
- GCA - arteritic
- Micovascular - risk factors
Inflammatory
- More likely in younger
Infiltrative
- Sarcoid
Nutritional
- carb only
- Slow progressive symmetrical
- Thiamine, A, E, Folate
Methanol poisoning
What is added to mri scan in MS
Gadolinium
Pregnant patient with rapidly progressive optic neuritis
Nerve sheath meningioma
- hormone sensitive
Key sign on exam of optic neuritis
RAPD
What is Leber’s optic atrophy?
How does it present?
Visual loss both eyes
Or sequentially (12 months) of both eyes
Central visual loss only
- Cant read chart but good peripheral vision
Optic neuritis exam? To finish?
Measure acuity - snellen
Fundoscopy
RAPD
Quick test of colour vision - red in each eye
Ishihara plates
Visual field - finger counting in 4 quadrants (1 or 2)
*State examination with slit lamp + dilating drops
Complete and full systematic neuro exam
Acutley Find Rapid Red Fields
How to assess RAPD ?
What is normal?
What is abnormal?
In a dimly lit room, have the patient look at a distant point.
Shine a light into one eye for about three seconds.
Quickly move the light to the other eye and observe the pupils.
Repeat the steps a few times to confirm your findings.
A normal response is when both pupils constrict equally when light is shined into each eye individually. When the light is moved between the eyes, the pupils should not dilate or escape.
If the pupil dilates when the light moves from one eye to the other, a RAPD is present. This indicates that there is a difference in the afferent pathway between the two eyes.
[Supported if the good pupil constricts when light goes back to it]
Fundoscopy of optic neuropathy vs atrophy q
Neuropathy - swollen
Atrophy - Pale
Optic neuritis investigations
Vitamin D
ESR and CRP - giant cell
Consider aquaporin 4 and MOG antibodies - atypical eg neuromyelitis optica
Imaging
Orbital MRI
- longer section of signal uptate in optic nerve suggestive of atypical
[If compressive MRI brain]
Sampling
Consider LP for oligoclonal bands
If history of sarcoid
-Consider serum ACE
- CT CAP
Referral to neuroophthalmologist
Treatment optic neuritis
Typical - consider steroids
-> Plasmapheresis
What happens in atypical optic neuritis when you stop steroids
Gets worse again
Risk of MS if typical optic neuritis
about 50% in 15 years
TIA max length
24 hours
TIA history
What was going on
Motor / sesnsory
- How fast, how long
- Should be sudden onset but may wear off gradually
Speech
- Hard to get words out
- Difficulty understanding words - dysphasia
Vision
- Transient amarousis fugax
- Loss of visual field
Mimics
- Headache - GCA / Migrane / Venous sinus thrombosis / meningitis
- Seizure like activity / tongue biting / post ictal
PMH
-Diabetes - blood sugar around event
- AF / Palps
- Vascular - cardiac / Hypetension / PVD / T2DM / IHD / TIA / stroke
Drug history
AF anticoagulated?
-> Compliance
Social
- Smokling
- Alcohol -> AF
- Function at home / work
- Drive?
Family history
- Clotting issues
- heart attack / stroke at young age
Good way of grouping signs syptoms of strokes vs stroke mimics
Stroke / tia -> Loss of function
If flashing lights / floaters / tingling etc more likely something else
ABCD2 score
Score 1-3 (low)
2 day risk = 1.0%
7 day risk = 1.2%
Score 4-5 (moderate)
2 day risk = 4.1%
7 day risk = 5.9%
Score 6–7 (high)
2 day risk = 8.1%
7 day risk = 11.7%
TIA exam
Dont just say cardio + extras
Basically a cardio exam + extras
- examine what ever was the presenting complaint
Hands
- Pronator drift
- Tar staining
- Feel pulse ?AF
- BP
Head and neck
-Auscultate carotid bruis
- Xantholasma - eyes
Dsarthria - say baby hippopotamus
Dysphasia - name this (pen / phone)
CNs - especially if facial / visual fields
Visual acuity
Tone / power / Sensation / reflexes
Fundoscopy
2 TIA most common differentials
Migraines
- Usually spreading and gradual onset
- Headaches
- Flashing lights
- Pins and needles
Seizures
- Likely to have amnesia
Consider optic neuritis if visual only
What side weakness if there is speach disturbance in TIA
Speech disturbance = right sided weakness
\UNLESS left handed
- All right handed people have speech centre on L side
ie if there is speech disturbance and L sided weakness ?migrane / L handed
TIA investigations
Bloods
- FBC, U&Es
-Cholesterol
-HBA1C
-Glucose
ECG +/- 24hr tape depending if not found AF
Imaging
- CTB
- Likely to get an MRI at TIA clinic
- Carotid doppler
Ix if young and tia
Thrombophilia screen
Vasculitis screen
Echo - valvular pathology
PFO - will need bubble / TOE
Carotid doppler scores for endarctetomy
Carotid stenosis > 50% and symptoms related to that side refer to vascular surgery
TIA + chest pain / neck pain / occipital headache worry
Vertebral artery dissection
-> CT angio
TIA lifestyle advice
Low salt
Exercise
Smoking / alcohol
Healthy diet
Control BP / Diabetes
TIA antiplatelet treatment? Other medications?
Aspirin 300mg for 2 weeks then 75mg clopidogrel life long
Hypertensive managment
Statins if cholesterol high
AF
Driving post TIA
1 month
- I would check DVLA before to check
HGV - at least 1 year
3 main differentials of Peripheral neuropathy
Diabetes
Alcohol
B12 deficiency
[you have another card with lots more on - but always name these 3 first]
What is myasthenia gravis?
Antibodies to post synaptic Acetyl coline receptors
(Not all signals get down)
- in first stage can increase ACH in receptors to treat
Over time get thickening of receptors and complement deposition - harder to treat which would lead to a fixed weakness
End of bed what 3 common signs of myasthenia
Head droop
Ptosis
Salivation
In paces most will have stable occular myasthenia
30 year old presents with droopy eyes at night / double vision / weakness
Take a history? Key things to check!?
[Myasthenia vignette]
Smoking, thyroid, breathing, swallowing
HPC
-When is weakness
- Fatigability
- Ptosis / double vision that’s worse after reading etc
- Double vision that is variable
- sometimes next to each other / sometimes on top
- struggling to finish chewing meal
- Proximal muscle weakness
Lambert eaton syndrome Cough / weight loss / haemoptysis / dry mouth / sweating / palps
Screen red flags
- ANY DYSPNEA
- ANY DYSPHAGIA / CHOKING
PMH
- Coexisting autoimmune
- Thyroid
- Lung Ca
Family history
Congenital myasthenia syndrome
DH
- Previous immune checkpoint
- inhibitors for Ca
Social history
Smoking alcohol
Driving - diplopia ptosis
How affecting function
Bar ach what is the other antibody that can occur in myasthenia? In who?
Black afrocaribbean
Anti muscle specific kinase antibodies
What is a myasthenic crisis
Exacerbation of underlying myasthenia which leads to respiratory/ Bulbar compromise
When would you want to refer to ICU in myasthenia. Name 4
FVC <20mls/kg
Progressive decline in FVC
Can’t complete sentences
Struggling with secretions
Can’t lift head from pillow
Some myasthenia patients struggle to do mouth movements for FVC? What other bedside test for monitoring
Count as far as possible in 1 breath
Key triggers for myasthenia
Surgery
Infection
- Anaesthetics - non depolarising
- Antibiotics - Including surgery antibiotics (penicilliamine rarther than penicillin) Aminoglycosides, macrolides, quinilones
- antimalarials
- B blockers
- Magnesium
Non depolarising anesthetics
Penicilliamine, Gentamycin / tobramycin Macrolide, Quinolones
Quinine
EXACERBATE
Erythromycin - macrolides
Xylocaine/ lignocaine
Aminoglycosides
Ciprofloxacin - quinolones
Electrolytes - magnesium
Relaxant - none depolarising
Beta blocker and Botox
Antimalarial - Quinine
Timolol
Key differences between Lambert eaton and myasthenia
Rarely get occular / bulbar symptoms
Usually more Peripheral muscles
Autonomic features predominately
Postural hypotension
Sweating
Dry mouth
Smoking haemoptysis weight loss
What would make you think of botulism rather than myasthenia
Rapidly progressive descending Paralysis with diplopia
Also lots of autonomic symptoms
Things you’ll find on exam inclusion body myositis
Middle age man
Hip / knee and wrist/finger flexion weakness
Things you’ll find on exam inclusion body myositis
Middle age man
Hip / knee and wrist/finger flexion weakness
Myasthenia differentials (weakness)
Lambert eaton
Polymyositis / Inclusion body myositis
Muscular dystrophies
Drug induced
MND
Hypothyroidism
Cushing
Usually in all these the weakness is progressive rather than variable
Lambert eaton antibodies? What does this mean about the reflexes
Pre synaptic calcium channels
-> if you repeatedly stimulate eg a reflex then it slowly releases enough and might potentiate
[As the issue is pre-synaptic release essentially]
3rd nerve palsy findings
Down and out
Ptosis
Myosis
3rd nerve palsy findings
Down and out
Ptosis
Myosis
Myaesthenia exam
End of bed
Fvc machine
Ptosis / strabismus
Myasthenia snarl when smile
Thymectomy scar
Cranial nerves
In addition - make maintain update for 30 seconds see if fatigue
Can they stop you opening eyelids
Smile for snarl
Open lips against them holding shut
Ask them to count as far as possible in 1 breath WHILE looking up for 30 seconds
Ask for a cough
If ptosis -“i would like to do icepack test to see if it reverses ptosis”
FVC
Neck
CVC (plasmapheresis)
Trache scar
Neck flexion / extension
Precus for thymoma.
(Found in 10%)
Ask to hold arms out for 20 second
Check lower limbs reflexes and see if vet worse / better with repeat
Hope flexion
I would like perform the
Ice pack test to assess for fatiguabke ptosis
Check forced vital capacity
Formally asess power and fatiguability with dynometer (grip test)
Request SLT assessment
Request optometry assessment
investigations for new dx myaesthenia? Rule out differentials?
Bedside
FVC
Swallow
Bloods
- Test ACH antibodies and MUSK
If LES - voltage gated calcium channel abs
- Thyroid function and antibodies
autoimmune thyroid in about 10% and differential of opthalmoplegia
- CK - to help differentiate myotonic dystrophies
- ESR - to help differentiate imflammatory eg polymyositis
EMG - repetitive stimulaton
And for jitter
(Jitter involves testing 2 myo fibers at same time and there is slight delay between them)
CT for thymoma / hyperplasia
[Tension test - old not done]
Management myaesthenia
Acute
If ICU
- High dose steroids
- Avoid pyridostigmine as increases secretions
- Plasma exchange or IVIG as rescue therapy
Conservative
- Neuro referral
- Patient alert card
- Refer to MDT inc SLT / optometry / Physio / OT
Medical
- I would treat this patient according to the Sussman protocol
- Pyridostigmine
- Consider buscopan for the GI side effects
- Low dose oral steroids
-> If they relapsed despite steroids I would consider azathioprine or mycophenolate
Surgical
If under 45 and positive antibodies should be offered a thymectomy
Parkinsonism vs parkinsons disease
Parkinsonism is the signs
Rigitiy (increased tone)
Tremor
Bradykinesia
Parkinsons is most common differential of this.
Young vs old parkinson features
Young
tremor predominant slow progressive
Older
Bradykinesia predominant and usually quicker progressive
Parkinsons pathophysiology
Degenerative neurological disorder characterised by loss of dopaminergic neurons in the basal ganglia (particualry the substantia nigra) with lewy body deposition
Parkinsons exam end of bed?
Progress?
Surrounding - mobility aids
Medication - dopa
Tremor at rest
Hypomimic face
Quiet voice when say hello
Tremor
- Resting and rotational approx 4-6Hz. Make sure relax arm
- Usually asymmetrical
Tone
- Assess all
- Usually increased tone especially on 1 side
- Cog wheel at wrist rotational
Coordination
- Bradykinesia - test finger and thumb tapping
- Lower limb - ask to stamp feet on floor
Eye movements
- Upwards gaze palsy
Speech
- Speed and amplitude saying Baby hippoptamus
Writing
- micrographia
Functional
- Doing up buttons
“I suspect this is parkinsonism and would like to performa more focused exam - however i can assess”
Power / reflexes / sensation usually normal
Gait
- Reduced arm swing
- Shuffling
I would like to formally assess for
- anosmia (common in parkinsons)
- perform a cognitive assessment of memory as decline common in parkinsons as well as a cross over lewy body dementia)
- check lying standing blood pressures - MSA / side effects of mediations
Who gets deep brain stimulation in parkinsons? Where is it seen?
People who are cognitively intact and symptoms despite 5x/day dopa therapy
Especially on/off symptopms
Seen similar site to PPM
therapies for complex/resistant parkinsons
Deep brain stimulation
Apomorphine infusion sub cut
Duodopa - gel preparation of levodopa into jejenum -.. gives continuous therapy
Parkinsonism Differential and features of each
Reduced dopamine in brain
-Idiopathic parkinsons (slow progressive usually asymmetric) - mnon scary hallucinations
Parkinsons plus = All respond poorly to levodopa
- Lew body dementia - forgetfull / early onset cognitive inpairment and scary hallucinations
- Progressive supranuclear palsy. Symetrical with tremor and falls predominant. Reduced vertical gaze. Rapid progression
- Multi system atrophy - autonomic / cerebellar features predominate
- Corticobasilar degeneration - usually rapid with ‘alien limb’ - loss of use with uncontrolled movements
Parkinsonism with NORMAL dopamine levels
- Vascular parkinsonism - essentially vascular disease affecting basal ganglia
- Drug induced eg metoclopramide / antipsychotics, valproate
- Essential tremor
- Wilsons
- Normal pressure hydrocephalus
- tumours in basal ganglia
Parkinson’s investigations
Conservative
- Full history / medication history
- L/S BPs
- Cognitive assessment - Eg MOCA
- Non motor symptom questionnaire
Bloods minimal
- Consider wilsons
Imagining
- Strokes
- Vascular load in basal ganglia - MRI best
- Consider DaTSCAN
What is a DaTSCAN used for
Can help differentiate parkinsons from Eg essential tremor
- Looks at uptake of dopamine
- Only helpful to differentiate parkinsonism with dopamine depletion and with normal dopamine levels
Management of parkinsons
Conservative
- Patient education - direct to parkinsons UK
- Specialist CNS nurse
- Early physio
- Speech therapy
- As progress may need dieticians
Medication - 3 options for first line
- Levodopa with peripheral decarboxylase inhibitor (dopamine doesn’t cross blood brain barrier, levodopa does) - eg co-careldopa
- MAOi - selegiline/rasagiline (can hold off need for dopamine for up to 1 year)
- Dopamine agonist - Eg Pramipexole (Mirapex)
Rotigotine (Neupro)
Ropinirole (Requip)
Apomorphine (Apokyn)
-> can add together
-> COMT inhibitor eg entacapone (reduces breakdown of L dopa)
Surgical
- Deep brain stimulation
Main issue with dopamine agonists
Impulse control issues
- Very important to council (+ document) prior to starting
Which dopamine agonist can you give as a patch
Rotigotine
Ro-stick-it-in
What are the non-motor manifestations of parkinsons? How should this be assessed?
Non-motor symptom questionnaire
Neuropsych
- Mood disorders
- REM sleep disorder
Anosmia - loss of sense of smell
Sleepy Daytime hypersomnolence
Autonomic
- Urinary retention / over active bladder
- Postural hypotension’s
- Constipation
NASA
Parkinsons staging
hoehn yahr
Visual loss history
What do you mean by visual loss
1 eye or both
Unilateral - cataract / macular degeneration
Bilateral - post chiasm / pit / infarcts
Pain - Ulcer on cornea, angle closure glaucoma, GCA (pain in temples then painless vision loss)
Painless - Macular degeneration / cataracts /
Struggle with distance or reading
Bumping into things in peripheries
PMH
- Diabetes
- Hypertension
Social history
- Smoking very bad
- Function - job / drive
Acute peripheral visual loss with grey shaddow progressing over vision
Retinal detachment
Floaters that coalesce -> worsening of vision in diabetes
haemorrhage
Who gets angle closure glaucoma
People who are far sighted
Thier eyes look big with glassess on
Macular degeneration visual loss
usually 1 eye first with blurring / distortion of vision
Causes of cataract
steroids
UV
Myotonic dystophy, downs, turners
How to perform red reflex
- Turn off the lights and darken the room
- Use an ophthalmoscope with the lens power set to zero and light to max
- Hold the ophthalmoscope about 18 inches from the patient’s eyes
- Shine the light into each eye individually, then both eyes together
- Observe the color, brightness, and symmetry of the red reflex
What to look for
A normal red reflex is symmetrical, bright, and the same color in both eyes
An abnormal red reflex may include:
-Dark spots or black flecks
-An absence of the red reflex
-A white reflex (leukocoria)
-An asymmetric reflex
How to perform RAPD ? Abnormal
Shine light into 1 eye for 2 seconds
Both should constrict the same
Then switch and both should constrict the same
In abnormal eg glaucoma / vein / artery occlusion where partially damaged retina
-When shine light into damaged eye only constricts by half.
-When light shined into good eye both will constrict completely
-> when light switched back to eye with glaucoma it will dilate slightly
What is the arrow pointing to?
Physiological blind spot
- corresponding to optic nerve
Superior / inferior arcuate defect
The reason these look like arcs and come off the blind spot is that they represent the loss of bundles of nerves as they come out of the optic nerve head.
The horizontal border is the horizontal raphe, which is an imaginary line dividing the upper and lower hemispheres of the retina.
Severe constriction with a central island
end stage glaucoma.
What is the cup to disc ratio? in glaucoma
Raised in glaucoma. >0.7
Magnified vs small eyes behind glasses? risks
Magnified - hypermytrophic
-> glaucoma
Small - myopic
-> retinal detachment
History of macular degeneration in 2 lines
Older person with slow progressive loss both distance and reading
Central visual loss with distortion being a common feature
Mainstay of treatment of leaky vessles in diabetic retinopathy
VEGF inhibitors
Eg Sunitinib
Retinitis pigmentosa presenting vingette
Young age with progressive peripheral visual field loss
-> bumping into things
Much worse at night
2 things seen on fundoscopy of retinitis pigmentosa
Pigmented bone spicules
Waxy appearance of disc
Arteriola attenuation
What is a focal seizure. Common symptoms in brain lobes?
Focal seizure is abnormally discharging neurons in a localised area
- Either consciousness non-impaired = focal aware seizure
- Or consciousness impaired = focal non-aware sezirue
-Occipital - flashing blobs of light
-Parietal - spreading paraesthesia / pain
-Frontal - hyperkinetic high energy motor movements
-Temporal - epigastic rising sensation . dejavu, emotion eg fear/panic, olfactory
Occipital focal seizure vs migrane
Occiptal
- Short lasting seconds- blobs
Migrane
- Longer lasting minutes - jagged lines
Focal seizure management
Can use any of the drugs for generalised seizures.
Lamotrigine, carbamazepaine, keppra
Valproate usally LESS effective
Retinitis pigmentosa causes and thier associations?
Which has management?
Inheritance variable based on cause
15% Usher syndrome - recessive
[Shhusher - cant hear]
- Varying severities of a sensory neural hearing loss
- (often born with moderate-severe hearing loss)
Bardet-biedel syndrome
- Obese / polydactyly
- Renal disease
[Big Boys]
Kearns-sayres
- Mitochrondrial (maternal)
- Progressibe and complex opthalmoplegia
- Cardiac conduction defects - PPM
- Ataxia
Resfem’s disease = recessive
[need to Re(f)st as weak and ataxic]
- Ataxia
- Deafness
- Weakness / Polyneuropathy
Management -> stop eating foods with phytamic
Couple of vitamin deficiencies
A and E
- Consider if
how to assess visual acuity if vision too poor to to read top line of snellen chart
Can they detect movement - eg moving hand in front of face
If not
-> check for ability to detect light with pen torch
Retinitis pigmentosa exam
Hands - polydactyly / scars of fingers removed
-> Bardet-biedel
Pacemaker
- Kearns-sayres
Hearing aids
- Usher, refsems, Kearns-sayres
Acuity
Eye movements
- consider Kearns-sayres if complex opthalmoplegia
Fundoscopy
Retinitis pigmentosa investigations
Referral to opthalmologist
Full field electroretinography
- Response of retina to light
- would be reduced
Formal humphrey visual field testing
Ischihara plates
Retinal photography
- better than fundoscopy
If suspicion of genetic syndrome
-> geneticist
If deafness -> audiology assessment
Management of retinitis pigmentosa
OT hep with visual aids
ENT - screening for hearing loss
Genetic counciling if specific diagnosis
Patient education - explaining no cure often
Discuss job / driving status
Phsycological support
What is a stroke
Clot or blood in the brain
Stroke examination?
- How does it differ if L / R sided weakness
Inspection - no matter if asked to examine CN / Upper / Lower
- May have splints - used for preventing fix flexed deformities
- Walking aids
- Scars on head eg hemicraniectomy
- PEG tube
Sneaky tip
- When introduce self during inspection come from left and offer to shake hands
[Assesses left side neglect and also speech
- L weakness (R brain) - assoc neglect
- R weakness (L brain) - aphasia]
Inspect
May have flaccid or flexed deformity
Tone
- Typically flexed high tone
- As examine more it will soften
- Important to differentiate high tone / contractures
Power
- Asymmetric pattern of pyramidal weakness
Reflexes - consider reinforcement eg gritting teeth / clenching hands
Clonus
Plantar
Sensation
- Light touch
- Pin prick
- Vibration
Coordination
- Heel shin
- dysdiadochokinesia
Cortical symptoms
- Test inattention
-If they have RIGHT sided weakness examine SPEECH
- If they have LEFT sided weakness examine NEGLECT
[ Visual fields then wiggle both fingers, Sensation L then R then Both]
To complete I would examine
- Proprioception, temperature
A full CN examination paying particular interest in visual field defects such as homonymous hemianopia and a full cortical assessment looking for neglect.
anterior, middle and posterior cerebral arteries supply? Which parts of body generally affected ?
anterior cerebral arteries supply the anteromedial area of the cerebrum.
- ACA -> mainly leg
The middle cerebral arteries supply the majority of the lateral cerebrum.
- MCA -> mainly arm and face
The posterior cerebral arteries supply a mixture of the medial and lateral areas of the posterior cerebrum.
TACS / PACS / Lacuna / POCS classification
Bamford
Essentially TACS and PACS involve cortical signs
- aphasia if affecting R weakness (L side brain)
- neglect if involving L weakness / R brain side.
Total anterior circulation stroke (TACS)
- Usually MCA -> mainly arm and face
- ACA -> mainly leg
All three of the following need to be present
-Unilateral weakness (and/or sensory deficit) of the face, arm and leg
-Homonymous hemianopia
-Higher cerebral dysfunction (dysphasia, visuospatial disorder)
Partial anterior circulation stroke (PACS)
- a less severe form of TACS, in which only part of the anterior circulation has been compromised.
Two of the following need to be present for a diagnosis of a PACS:
-Unilateral weakness (and/or sensory deficit) of the face, arm and leg
-Homonymous hemianopia
-Higher cerebral dysfunction (dysphasia, visuospatial disorder)*
-Higher cerebral dysfunction alone is also classified as PACS.
Posterior circulation syndrome (POCS) involves damage to the area of the brain supplied by the posterior circulation (e.g. cerebellum and brainstem).
One of the following need to be present for a diagnosis of a POCS:
-Cranial nerve palsy and a contralateral motor/sensory deficit
-Bilateral motor/sensory deficit
-Conjugate eye movement disorder (e.g. horizontal gaze palsy)
-Cerebellar dysfunction (e.g. vertigo, nystagmus, ataxia)
Isolated homonymous hemianopia
**A lacunar stroke (LACS) ** is a subcortical stroke that occurs secondary to small vessel disease. There is no loss of higher cerebral functions (e.g. dysphasia).
-> Weakness usually affects Face arm and Leg as is a more distal vessel
One of the following needs to be present for a diagnosis of a LACS:
-Pure sensory stroke
-Pure motor stroke
-Sensori-motor stroke
-Ataxic hemiparesis
1 - In paces unilateral weakness without cerebral dysfunction is going to be someone with?
2 - If there are facial weakness you know -?
1 - Lacuna stroke
2 - it is a CN cause Ie. nothing to do with the spine
In stroke what is L weakness usually associated with? R weakness ?
L weakness - neglect
R weakness - Speech
[The Right sided Speech Left them with Neglect]
What is the main posterior circulation stroke syndrome to know about
Lateral medullary syndrome
- Loss of pain and temperature sensation on one side of the face
Loss of pain and temperature sensation on the opposite side of the body
Difference between high tone and contractures in stroke
High tone you can overcome
Contractures - cannot either too painful or just unable
- Definitely means chronic
What does Asymmetric pattern of pyramidal weakness mean in stroke
Flexor posturing in upper limb
Extensor posturing in lower limb
MRC scale
0 - no movement
1 - flicker
2 - movement without gravity (eg turn arm so thumb facing up to test wrist extension)
3 - Move against gravity
4 - reduced power
5 - Against resistance
Weakness - what features make it feel likely to be from brain and not spine?
Brain if face
Brain if unilateral (usually)
Differentials for acute hemiparesis? chronic?
In the Acute stroke with flaccid hemiparesis I would consider
- Tods paresis
- Migraine
However with Chronic stroke - Upper motor neurone signs i would consider
- SOL
- MS
Stroke investigations / management
In the acute setting the investigations would be different from the patient who has more chronic symptoms in front of me
Acute
- Stabilisation with a focused ABCDE
- NIHSS assessment
- Organise urgent CT / CTA and call the thrombolysis / thrombectomy team
Otherwise
Bedside
- Glucose
- ECG
Bloods
FBC
U+Es
HBA1C
Cholesterol and lipids
Imaging
CT + CTA if within thrombolysis window
Special tests later down line
- Carotid dopplers (if you didn’t already have the CTA in the acute setting)
- Consider 24hr tape
- Echo in young patient / embolic stroke
Management of stroke acute? post acute?
Check if eligible for thrombolysis (4.5hr) or thrombectomy (24hr)
Ensure medically stable and perform NIHSS score then discuss with stroke team
Ischemic stroke
- Asprin 300mg for 2 weeks then clopidogrel
- Or anticoag if due to AF
Haemorrhagic
Manage hypertension to target systolic 140-150
Swallow assessment and consider NG
Chronic
Full assessment from nutrition, physio and OT
Cognition assessment with MOCA
VTE prophylaxis with intermittent pneumatic compression. [NOT TEDS or enoxaparin]
Longer term
Manage cardiovascular risk factors
- Diabetes, HTN, cholesterol
- Management of high tone eg splints / botox
- Follow up ECGs and carotid dopplers
- Job / driving / visual fields
What investigations if a young person with stroke Eg <55
Unusual thrombosis
- Antiphospholipid screen or acquired thrombophilia
Vasculitis
- Screen ANCA / ANA
Bubble echo at 5 weeks
MRI
Name some complications of acute stroke
Brain
- Swelling eg malignant MCA syndrome
- Haemorrhagic transformation
- Repeat infarcts
- Seizures
Bleeds
- Hydrocephalus
Stroke
- Swallowing / aspiration
- Incontinence
- Spasticity
- Pain
PEs, DVTs as unable to use clexane
Falls
Delirium
MND Exam signs
Inspection
Wasting and fasiculation
Tone - Usually spastic but may be flaccid
Power - Weak, often footdrop is presentation
Reflexes - variable Think absent knee jerk with extensor plantar
Sensory - NORMAL
Speech - dysarthria
- Bulbar (donald duck) - palate weakness
- Pseudo bulbar (hot potato) - spastic tongue
Tongue
- Wasting and fasiculation - bulbar
- Stiff spastic with brisk jaw jerk - pseudobulbar
NO sensory, Occular or cerebellar
What is MND? what really makes you think of it ?
Progressive disease of unknown aetiology which involves axonal degeneration of the upper and lower motor neurones
3 Ps
Painless, progressive paralysis
What are the 3 main types of MND? Spastic vs flaccid predominant? Best prognosis?
Often overlap between them
Amyotrophic lateral sclerosis (50%)
- corticospinal tracts
- Spastic paraparesis
Progressive muscular atrophy 25%
- anterior horn cells
- Wasting fasiculation and weakness
- BEST prognosis
Progressive bulbar palsy 25%
- Lower CNs and suprabulbar nuclei -> speech and swallowing issues
- WORST prognosis
Investigation of MND
Clinical diagnosis
Bloods
Consider b12 / CK
Consider genetic testing SOD1
[Poor sod]
EMG
- motor neurone disfuction you struggle to detect clincially eg fasiculations
- Denervation and renervation seen
- exclude myaesthenia etc
- look at muscle disease
MRI brain and spine
- Help exclude brain stem lesions, cervical cord compression
MND treatment
Supportive
Patient education and support groups as likely progressive
PEG feeding / Dietician
PT mobility aids
Communication aids
OT
NIV
Advance care planning
Riluzole - glutamate antagonist
MND prognosis / predictors
Die by 3 years -> pneumonia / resp failure
Poor predictors
- Onset in elderly
- Female
- Bulbar involvement
MND differentials of hand musle wasting
Anterior horn cell
- MND
- Syringomyelia
- Cervical cord comrpession
- Polio
Brachial plexus
- Cervical rib
- Pancoast tumour
- trauma
Peripheral nerve
- peripheral neuropathy
Muscle
- Disuse atrophy eg rheumatoid
What causes fasiculations? most common causes in hands
Axonal loss -> remaining axons recruiting and innervating more myofibrils
-> large motor units
MND
Syringomyella
What is kennedy’s disease? Cause? differentiate from MND
Lower motor neuron disease
X linked -> men
Tremor predominant
gynaecomastia
perioral fasiculations
symmetrical
differentiate MND and myotonic dystrophy on exam
Dystrophy has
- Myotonia
- No upper motoneurone signs
- very symmetrical
- Rarely significant wasting
Differentiate myaesthenia and MND
Dysarthria - only in MG crisis
Ptosis and fatiguability of eye movements
MND differentials
Myotonic dystrophy
Myaesthenia - if bulbar
Heredetary spastic paraperesis
Syringomyela
Inclusion body myosisitis - foot drop
Where is the macula ? fovea?
The macula is found lateral (temporal) to the optic nerve head.
The central part of the macula, the “fovea” is about the same diameter as the optic disc and appears darker than the rest of the macula due to the presence of an additional pigment.
Microaneurysms are localised outpouchings of capillaries
Look very similar to dot and blot haemorrhages - bleeding capiliaries
Cotton wool spots
What causes neovascularisation
Insufficient retinal perfusion results in the production of vascular endothelial growth factor -> neovascularisation
What is bells palsy? Name 4 Features
Lower motorneurone palsy of CN7
Unilateral facial weakness
Inability to close eye
Hyperacusis
Pain behind ear
Loss of taste
Bells vs stroke
Bells - onset over hours to days
Stroke - sudden onset
- Forehead spairing
Why does a stroke spare the forehead
Forhead gets innervation from both hemispheres but only ipsilateral facial nerve
Examination of CN 7
close eyes agaisnt resistance
Elevate eyebrows
Show teeth
Open mouth against resistnace
Formal taste testing
Bells palsy red flags and what they might indicate as the cause
Bilateral
- Lime disease
- HIV seroconversion
- Gillian barre
Additional CN involvement
- CN8 in cerebellar pontine angle tumours
Systemic features
- Bullseye rash - lime
Sudden onset
- Vascular
Very slow onset over weeks
- ?SOL
Bells differentials name 5
Ramsay hunt
- Herpes
Stroke
Lime disease
Otitis media
Acoustic neuroma
Gillian barre - common to invovle CN7 and bilat
HIV
Autoimmune
- Sjogrens
- Sarcoid
- MS
Bells inverstigations?
If typical symptoms can diagnose clinically. If suspicious / not resolving after 6 weeks then consider
HIV testing
Lyme serology
MRI for MS
LP if thought to be inflammatory
Bells treatment
50mg Pred 10 days
Eye protection - lubricating drops
[Both due to less lacrimal secretion (reduced parasympathetic) and inability to close eye
Aciclovir if evidence of ramsay hunt
If prolonged / incomplete recovery can refer to neuro
Memory loss differentials? history?
Dementia
- Alz - progressive short term memory loss
- Vascular - assoc stroke / vascular disease, mood is big feature
- Lewy body - periods reduced consciousness, parkinsonism, vivid dreams
- Parkinson - usually parkinsonism before dementia
- Fronto temporal- personality / agression / language
NPH - gait, incontinence, memory loss
SOL - personality change
Depression
Hypothyroid
Alcohol related brain injury
Red flags
- Left gas on / left house open
- got lost and brought back by some body
- Feel safe in the car
- Loss of inhibition / agression
Screen systems
- Constipation
- Continence
- Gait
PMH
- Cardiovascular risk factors
- Previous psych history
DH
- Do they self manage - dossett box
- Antichoninergic - Anti psych / oxybutinin / amitrip
Family history
- Young memory problems
Social
- How is affecting
- Who is supporting
- Driving
What are the types of memory decline
Short term - words dates facts
Semantic - faces
Prospective - furutre eg appointments
Working - get to the top of stairs and forget / driving and excecutive
Episodic - eg in alz no memory of last 20 years but
Memory loss exam
Brief systemetic exam
Power and coordination in all limbs
Ataxia
Full set of obs
Cognitive screen Eg AMT, MMSE, MOCA
What are the formal cognitive assessment tools
Screening
4AT
Tool
MMSE
MOCA
Addenbrookes ACE 3
Memory loss investigations
Formal cognitive assessment
Bloods - CAUIT Brain Health
Calcium
Alcohol / LFTs
Uraemia
Inflam markers
TFTs
b12 / folate
HIV / sysphilis if any suspicion
If young
- Autoimmune encephalitis as well
Imaging
- CTB - rule out SOL, stroke, vessle disease
- Likely MRI if need more info
Management of dementia
Educate
- This is likely to be a slow but progressive condition
- Can discuss more later
MDT
Signposting to info like dementia services
Social services - Care / rest bite
OT - gas, car
Physio
Medication
- Alz - Ach inhibitors eg donepazil, rivastigmine (improve by less than 1 point on MMSE)
- Memantimine - behavioural symptions
- Rivastigmine.- reduces hallucinations in lewy body
Normal pressure hydrocephalus treatment
Consider theraputic LP
-> vp shunting if requires regular
Perform exam of this patient with coordination issues
Lower limbs
- Gait - ataxia
- Rhombergs negative
- Heel-shin
If rhombergs positive move to peripheral neuropathy exam included - ideally complete this at end
Head
- Brief conversation - Dysarthria
- Nystagmus
- May have minor head tremor
Upper limbs
- Rebound phenomenon
- Finger nose incoordination
- Disdiadokinesis
- [Hypotonia / Hyporeflexia ]
Pinprick - peripheral neuropathy (also small fibres which will be lost first
DANISH
disdiadokinesis
Ataxia
Nystagmus
Intention tremor
Scanning dysarthria
Hypotonia / Hyporeflexia
Cerebella lobe lesion vs vermis vs vestibular nucleus lesion
Lobe
-IPSILATERAL cerebellar signs in limbs
Vermis
- Ataxic trunk / gait with normal limbs tested on bed
Vestibular nucleus
- Nystamus from Contralateral side
[L nystagmus could be due to a L (ipsilateral) cerebellar lesion or a R contralateral vestibular nucleus lesion]
Causes of cerebellar issues
My HAND VP
- MS
- Hereditary - Spinocerebella ataxia (esp brisk reflexes), Frederick’s / Ataxia telangectasia
- Alcohol
- Nutritional b1/12
- Drugs - phenytoin
- Vascular - stroke
- Paraneoplastic / Posterior fossa lesion
PASTRIES
Phenytoin / Paraneoplastic cerebellar syndrome
Alcoholic (thiamine deficiency) cerebellar degeneration
Sclerosis - MS
Tumor - posterior fossa
Rare - friedricks ataxia
Infection - viral
Endocrone - hypothyroid
Stroke - brainstem
MS is? Main types?
Chronic inflammatory demyelinating disorder
Relapsing-remitting (85%)
Approximately half go on to develop secondary progressive MS
Primary progressive or progressive-relapsing (15%)
Features on examination of eyes in MS
- Red desaturation
- Relative afferent pupillary defect in affected eye
Extra-ocular movements
- Internuclear ophthalmoplegia – failure of adduction of affected eye, with nystagmus on abduction of the contralateral eye
- Document preservation of convergence
- Nystagmus
Offer fundoscopy to look for pallor of the affected disc
May be normal as disease is retrobulbar in the majority of patients
Differentials for MS
==
Infective
- Lime disease
- Tertiary syphilis
- HIV
- HTLV-1 -> spastic paraperisis
Inflamatory
- Vasculitis
- Acute disseminated encephalomyelitis (following viral illness / vaccination)
- Neuromyelitis optica
- Transverse myelitis
- Systemic inflammatory (SLE/ Sarcoid / sjogren
Metabolic
- B12 deficiency
- Diabetic neuopathy
- Hypothyroid
Lysosomal storage disease
- Eg Fabry
Mitochondrial diseases
- Myoclonic epilepsy with lactic acidosis and stroke-like episodes (MELAS)
Myoclonic epilepsy with ragged red fibres (MERRAF)
Heredatory spastic paraperisis
Investigations of MS
Full blood count (anaemia of chronic disease)
Liver function, renal function prior to starting immunosuppression
CSF - oligoclonal bands (>80% of patients with MS, but not specific)
MRI brain and spine
Visual evoked potentials looking for conduction delay (prev optic neuritis)
MS management
Acute attacks
- high dose IV steroids (consider plasma exchange)
Conservative
Patient education + support groups
Multidisciplinary team approach
Occupational and physiotherapy to preserve and maximize function
Walking aids / visual aids as necessary
Treatment of symptoms
- Spasticity: baclofen, gabapentin, tizanidine, dantrolene
- Depression: selective serotonin re-uptake inhibitors, tricyclic antidepressants
- Fatigue: amantadine
- Neuropathic pain: TCAs, pregabalin, gabapentin, carbamazepine
- Bladder dysfunction: intermittent self-catheterization, α1-antagoinists, anti-cholinergic agents
Chornic Disease modifying
- Specialist input in rapidly evolving field
- Interferon b
- Natalizumab
- Fingolimod
MS and pregnancy
Reduced relapse rate
-> increased post partum
What is Gestermans syndrome
Gerstmann syndrome is a rare neurological disorder that affects the brain’s parietal lobe, causing a loss of certain cognitive functions:
Writing disability
Also known as agraphia or dysgraphia, this can include illegible writing, inconsistent letter formation, and unfinished letters
Inability to do math
Also known as acalculia or dyscalculia, this can include difficulty with adding, subtracting, multiplying, and dividing
Inability to identify fingers
Also known as finger agnosia, this can include difficulty identifying one’s own or another’s fingers
Inability to distinguish right from left
What is the most common brainstem vascular syndrome? Pathophysiology
Lateral medullary syndrome (wallenberg) - Occlusion of PICA
Contralateral
- pain and temperature in limbs
Ipsilateral
- pain and temp face (trigeminal)
- Cerebella signs
- Nystagmus - vestibular nucleus
- horners - descending sympathetic tract
- palatal paralysis / loss of gag -
- nucleus ambigus
Name 5 differentials of bilateral spastic legs
MS
Cord compression / cervical myelopathy
Trauma
MND (if no sensory)
Rare
- Anterior spinal artery thrombus
- sryngomyellia
- heredatory spastic paraplegia
- Subacute degeneration of spinal cord
- freidricks ataxia
Myotomes L1-5
L1-2 - Hip flexion
L3 - Knee extension
L4 - ankle dorsiflexion
L5 - big toe extension
Dermatomes lower legs
Syringomyelia exam
Inspection
Scars from painless burns
Weakness and wasting of the small muscles of the hand
Reduced reflexes
Sensory loss
- Loss of pain and temperature (spinothalamic)
- Presevation of joint position and vibration sense (dorsal columns)
Syringomyelia pathophysiology?
Associations?
Diagnosis
Expanding fluid filled cavity within the cervical cord. Compresses spinothalamic neurones first
Assoc - arnold chiari malformation
Diagnostic mri spine
Upper limb myotomes
C5/6 - Biceps - Elbow flexion and suppination
C7/8 Triceps - elbow extension
T1 - finger abduction
Upper limb dermatomes
c5 shoulder
c6 thumb / lateral forearm
c7 middle finger
c8 little finger
t1 medial forearm
Parkinsonism on exam what additional features to make you suspect other cause
Multisysem atrophy
- Hypotension
- Cerebellar signs
Progressive supranuclear palsy
- Vertical eye movements
Forgetful
- Lewy body dementia
Medications
Charcot-marie-tooth also called? Exam findings
Hereditary sensory motor neuropathy
- Pes Cavus (also seen in freidricks ataxia)
- Wasting of distal lower limb muscles with preservation of thigh bulk
- Wasting of hand muscles
- Weakness of ankle dorsiflexion and toe extension
- Variable degree stocking sensory loss
- High stepping gait (footdrop) and stamping (absent proprioception)
What are the 2 types of charcot marie tooth
type 1 - demyelinating
Autosomal dominant - PMP22 mutation
Type 2 - axonal
Name 8 causes of peripheral neuropathy
- Diabetes
- Alcohol
- Drugs - isoniazid / vincristine
- Vit B12 / B1
- Chronic inflammatory demyelinating polyradiculoneuropathy
Predominant motor
- Guillian barre
- Botulism
- lead toxicity
- Charcot marie tooth
Mononeuritis multiplex
- Diabetes
- Connective tissue - Rheum / SLE
- Vasculitis - PAN / eosinophilic granulomatosis
- HIV
- Malignancy
Acute
- Guillian barre
- Lead toxicity
- Diptheria
- Porphyria
Subacute
- Drugs. - vincristine / isoniazid
- Toxins - alcohol
- Dietary - B12 /B1
Chronic
- Diabetes
- heredetary eg charcot marie tooth
- Connective tissue - Eg rheum A / SLE
- Medabolic eg uraemia
- Paraproteinaemia
- Malignancy
friedricks ataxia exam
End of bed
- Young / wheelchair (or mobility aids) with scoliosis
Dysarthria when introduce self
- Bilateral cerebellar ataxia
-> Ataxiaic hand shake, dysarthria nystagmuis
Lower limb
- Leg wasting with absent reflexes and bilateral upgoing plantars
- Often mild increase in tone
- Pes cavus - high arch that doesn’t flatten when weight is applied
- Loss of vibration and proprioception sense - dorsal columns (may also have some pinprick / soft loss)
- Gross bilateral Ataxia
If time
- Assess speach / nystagmus
- Kyphoscoliosis
- Upper limb finger nose / disdiadokinesis
I would like to assess
- Fundoscopy for optic atrophy
- Finger prick marks / glucose for diabetes
- high arched palate
- Full cardiovascular exam HCOM
SN hearing loss
Freidricks is?Pathophysiology? inheritance and onset? Key associations
Progressive neurodegenerative condition
(most common inherited ataxic condition in uk)
Frataxin gene on chromosome 9
Autosomal resessive
[Trinucleotide repeat with anticipation]
-> onset as a teen
-> Iron accumulation in mitochondria of;
- cerebellum -> central ataxia
- dorsal collumns -> sensory ataxia and loss of tendon reflexes [like b12 deficiency]
- cardiac myosites -> HCOM (most common cause of death)
- Pancreatic b cells -> diabetes
- scoliosis
- high arched palate
- Dysphagia - CN VII, X and XII
- Sensory neural deafness
- optic atrophy
- Pes cavus
- Mild dementia
Name 5 causes of extensor (upgoing) plantars and absent ankle/knee jerk
- Friedricks ataxia
- subacute degenration of the cord - b12 def / NO2 use
- MND
- Conus medullaris lesions
- Dual patology - Peripheral neuropathy (absent ankle jerk) + stroke on affected side
- Tertiary syphilis - Taboparesis
Name 5 causes of bilateral ptosis
Congenital
Senile
Myaesthnia
myotonic dystrophy
Mitochondrial eg kearns-sayre syndrome
Bilateral horners
Bilateral 3rd nerve palsy
Recent first seizure. Examine them as you wish
Tuberous sclerosis
End of bed / Face
- Butterfly distrobution of adenoma sebaceum
- Antiepileptic treatment eg gum hyperplasia in phenytoin
Hands
- Periungal fibromas
Trunk
- Shagreen patch - rough leathery skin over lumbar region
- Ash leaf macules
Abdo
- Renal enlargement - PKD
- Renal transplant / dialysis
Seen on fundoscopy tuberous sclerosis
Retinal phakoma
- dense white spots
Genetics tuberous sclerosis
Autosomal dominant
TSC1 - chrom 9
TSC2 - chrom 16 (PKD 16 too)
Tuberous sclerosis main 3 associations? Others?
Low IQ
Seizures
Renal manifestations eg PKD / angiomas
Hands
- Periungal fibromas
Face
- Adeoma sebaceum
- Retinal hamartomas - big white patch
Trunk
- Shagreen patch - rough leathery skin over lumbar region
- Ash leaf macules
What are the renal manifestations of tuberous sclerosis
Polycystic kidneys
RCC
angiomyolipomas
Examine this patients skin and procede
Neurofibromatosis
Skin
- more than 2 cutaneous neurofibromas
- Six or more cafe-au lait patches
- Axillary frekling
Eyes
- Lisch nodules
- reduced acuity - optic glioma / compression
Ears
- Hearing loss / tinitus bilateral in type 2
Lowe limbs
- Tone sensation power
Chest
- Lung fibrosis
Neuropathy
BP - Hypertension (assoc renal artery stenosis / phaeo
What are the 2 types of neurofibromatosis? Features?
Both autosomal dominant
Type 1
- chrom 17
- Increased seizures, learning difficulties and malignant peripheral nerve tumours
- Large neurofibromas may be in abdo and compress kidneys
Type 2
- Chrom 22
- Bilateral acoustic neuromas -> SN deafness
- Tumours in spinal cord -> compression
- Mostly afects brain and spinal cord -> less skin findings
Main complications/associations neurofibromatosis
Phaeo
renal artery stenosis
Epilepsy
sarcomatous change
scoliosis
Low IQ
Name 3 causes of enlarged peripheral nerves + peripheral neuropathy
Neurofibromatosis
Leprosy
Amyloidosis
Acromegaly
Refsums disease
3 causes
Unilateral Horners
Remember to have a look for evidence of CVCs / carotid endarctectomy
Pancoast tumour resection
Brainstem
- MS
- Stroke - wallenbergs
Spinal cord
- Syrinx
Neck
- pancoast
- aneurysm
Bright light shone into eyes?
Additional sign
Holmes-aide pupil
Absent / diminished knee / ankle jerk
4 causes
CN 3 palsy
Medical
- Mononeuritis multiplex (eg diabetes)
- Midbrain infarct
- Midbrain demyelination eg MS
- Migraine
Surgical
- Communicating artey aneurysm (posterior)
- Cavernous sinus pathology eg tumour / thrombosis
- Cerebral uncus herniation
Small irregular pupil not reactiving to light? What else should you do
Argyll robertson - spyhilis
(may be diabetes)
Test for sensory ataxia (also sign of quaternary syphilis)
What is marcus gunn pupil
Positive RAPD
Name 5 causes of RAPD with pale disc
MS
Glaucoma
B12
Ischemia
PALE DDISCS
Pressure - Gaucoma / tumour
Ataxia - freidricks
LEbers optic atrophy
Degenerative - retinitis pigmentosia
Diet - B12 deficiency
Ischemia - CRAO
Sphylis / Toxo
Cyanide /lead / alcohol poisoning
Sclerosis - MS
Retinitis pigmentosa with
Ataxia?
Deafness?
Opthalmoplegia + PPM?
Polydactyly?
Ichyosis - Scaley skin?
Ataxia - Freidricks / kearns-sayre / refsum
Deafness - refsum / kearn sayre / usher
Opthalmoplegia + PPM - kearn sayre
Polydactyly - Bardet-Biedl syndrome
Ichthyosis - refsum
upgoing plantars and absent ankle/knee jerk investigations
Full and familty history
Urine dip fasting glucose / HBA1C for diabetes
ECG / CXR / Echo evidence of HCOM
Nerve conduction studies - absent / reduced seonsory action potentials with increased motor velocity
MRI brain / spine - atrophic changes / rule out conus medularis or subacute degeneration of cord
- Friedricks ataxia
- subacute degenration of the cord - b12 def / NO2 use
- MND
- Conus medullaris lesions
- Dual patology - Peripheral neuropathy (absent ankle jerk) + stroke on affected side
- Tertiary syphilis - Taboparesis
Management freidricks ataxia
MDT
- Geneticist / genetic counciler
- Neurologist
- physio
- Occupational therapist
- Orthotics
- Diabetic nurses
- Cardiologist
- GP for continuity of care
No cure
Management of complications such as spacicity / diabetes / arrythmias / joint deforment or scoliosis
Which crainial nerves come from which bits of brainstem?
CN1 (olfactory) - olfactory bulb
CN2 (optic) - Retina
CN3/4 - Midbrain
CN 5-8 - Pons
CN 9-12 - Medulla
Eye movement muscles?
Superior / inferior / medial / lateral Rectus muscles
Superior / inferior obliquie
Lateral rectus - CN6 (Abducens)
Superior oblique - CN4 (troclear)
Remainder - CN 3 (occulomotor)
What is conjugate gaze
2 eyes moving in the same direction
What additional structure in the pons for lateral gaze? function?
Paramedian pontine reticular formation
controls horizontal eye movements
To look left which CNs are firing? what connects these?
L paramedian pontine reticular formation which triggers :
L sided abducens (CN6)
R sided Occulomotor (CN3)
Medial longitudinal fasiculus (heavily myelinated nerve fibres which starts at abducens and travels to occulomotor)
What is internuclear opthalmoplegia? What do you need to then assess?
Disorder of horizontal conjugate gaze
Impaired ADduction of ipsilateral eye
With nystagmus of contralateral ABducting eye
Caused with a lesion in medial longitudinal fasiculus
Assess convergence to see if eye can in fact ADduct
Looking to right
Left medical longitudinal fasiculus lesion
The eye which cannot move (adduct) is the side with the lesion
If multiple eye movement issues what would you call it?
Complex opthalmoplegia
What are the causes of INO? Differentials?
My 2 main differentials would be MS or stroke dependent on the patients age and vascular risk factors.
MS
- (Medial longitudinal fasiculus is highly myelinated)
- If young it is likely this
Stroke
- Small stroke affecting pons / medulla
Other
- Neoplasm / mets
- Inflammatory - cns vasculitis
- Infections - syphilis / TB
- Trauma
- Metabolic - B12 / Wernikes
Differentials
- CN3 palsy, CN4 palsy etc
- Mimick - Myaesthenia gravis due to fatiguability
[INO+ syndromes
- 1 and a half syndrome - 1 eye has complete bilateral horizonal gaze palsy and the other has failure of ADduction (when abducts have nystagmus)
- Bilateral wall eyed opthalmoplegia (both eyes face out) ]
Bilateral INO =?
MS
Stroke would have to involve large area of brainstem to cover both sides -> lots more signs
INO investigations
MRI head looking at brainstem
- Infact / haemorrhage / demyelination
If young and demyelination
- MRI whole spine for cord lesions
- MRI with gadalinium (enhances with new lesions)
- Oligoclonal bands in CSF
If old and evidence of infarct
- Stroke bloods - Cholesterol / diabetes
- ECG for AF +/- 24hr tape etc
Infection
LP etc
conjugate vision management
MS steroids / Disease modifying
Stroke - stroke
Eye patch etc
Which palsys in these
Normal
Right occulomotor
Right Troclear
Right abducens
Bar 4 eye muscles what else does the occulomotor nerve innervate
- Superior rectus – moves the eye up.
- Inferior rectus – moves the eye down.
- Medial rectus – moves the eye in.
- Inferior oblique – moves the eye up when the eye is looking in toward the nose.
- Levator palpebrae superioris – lifts the upper eyelid. [helps to remeber the function of the inferior oblique as lifting eyelid and eye up happen together]
Conditions compromising blood flow to the inner nerve fibers controlling these muscles — without compressing the outer fibers — don’t affect the pupil.
Outer nerve fiber function
Parasympathetic - muscles:
- Sphincter pupillae – located in the iris and makes the pupil smaller.
- Ciliary muscle – causes the lens to change shape when focusing up close.
CN3 palsy features
Can be pupil sparing
CN3 palsy medical vs surgical causes and pathophysiology
Surgical - Complete (with pupil involvement)
- Usually a compressive cause eg PICA
- This is a neurosurgical emergency until proven otherwise
- Others - malignancy, trauma, haemorrhage, uncal herniation
- [parasympathetic fibres which run on outside to pupil are suseptible to pressure from external structures]
Medical - Pupil sparing
- microvascular supply to neve damaged
- blood flow insufficient to reach inner fibers.
- Diabetes, hypertension
Other causes would expect more than an isolated CN3 palsy eg infection / vasculitis / cavenous sinus syndrome
CN3 palsy investigations and management
If pupil involvement (surgical)
-> Urgent CT angio (or MRA) brain for PICA
With urgent neurosurgical referral dependent on result
If Medical
Bedside
- check BP and sugar
Bloods
- FBC , HBA1C, inflam markers, [TFTs, Ach / MuSK]
Management
- HTN and diabetes and most patients recover before 12 months
- No driving / heavy machinery while diplopia
- prism glasses / eye patch
Basic managenent of diplopia due to eye movement palsy
- No Driving / work responsibilities
- Prism glasses
- Eye patch
“double vision where the objects are split vertically” How to assess this
Right CN4 palsy [Troclear inervating superior oblique]
- Get them to ADduct (look to left) and then look down in this position
CN4 palsy causes (make sure you get the top 3)
- Congenital
- Microvascular ischemia - DIabetes and hypertension
- Head injury - very thin nerve - doesnt require massive trauma
[Stroke
Inflammation
Multiple sclerosis
Tumor]
At rest
Right CN6 palsy
- eye sits slightly medial at rest due to unapposed action of medial recuts
CN6 palsy causes
- Congenital
- Raised ICP( false localising sign also in IIH)
- Microvascular ischemia - DIabetes and hypertension
- Head injury - very thin nerve - doesnt require massive trauma
Isloated CN syndrome investigations and management
Bedside
- BP and sugar
Bloods - FBC, HBa1c, inflam markers, cholesterol
New CN4 / CN6 will get an MRI head to rule out malignancy or clear structural cause
Conservative
- No driving while symptoms
- Eye patch / prism glasses
Medical
- HTN and diabetes control
Complex opalmoplegia - What are you thinking if a few areas of brain with cn palsys
Name 5
- Thyroid eye disease
- Myaesthenia
- Miller fisher syndrome
- CPOE - Chronic progressive external ophthalmoplegia
- brainstem lesion eg compressive
- mitochondrial issue
- Infection classically Lyme disease if multiple cranial mononeuopathies
- Meningitis
- Inflammatory - MS / vasculitis / sarcoid
Infection -> ataxia complex opalmoplegia and loss of deep tendon reflexes
Miller fisher
Perform a full neulogical screening exam
Legs
1. Rhombergs with feet together
2. Heel to toe walking
3. Walk on tip toes and then heels (plantar and dorsiflexion)
4. Hop on 1 foot
Arms
1. Pronator drift
2. Keep eyes shut and tough a finger on both hands then ask to use that finger to touch thier nose (middle and ring)
3. Play the piano in mid air
4. Tap back of each hand
5. hold hand and quick tone and cog wheel rigidity while they raise other hand in air
Head
1. Temporal visual fields “point at the fingers which move”
2. Eye movements
3. Shut eyes tight (look at pupils when open)
4. Show teeth then stick tongue out
On the couch
1. Fundoscopy
2. Tendon reflexes
3. plantars
Whats seen in non proliferative diabetic retinography? Differentiate from hypertensive?
Non-proliferative
- Microaneurysms and hard lipid exudates
- May progress to dot/blot haemmorhages
- May also see cotton wool spots which signify areas of retinal infarction similar to those seen in hypertensive retinopathy
Hypertensive
- Hard to distinguish in early stages but would be very unlikely to have diabtetic without mucroaneurysm formation
How would you manage diabetic retinopathy
Continued eye screening with opthalmologists
Glycaemic control though too rapid control can lead to paradoxical worsening.
This is also seen in pregnancy
Photocoagulation therapy may be used
How does pan retinal photocoagulation work
Inhibits angiogenic growth factor release
Bar diabtetic retinography what other eye problems occur in diabetes
Cataracts more common
Retinal artery / vein occulions
Vitreous haemorrhages
High rates of cranial nerve palsy’s affecting eye movement
If you see namely retinal haemorrhages, hard exudates and cotton wool spots what grade of hypertensive retinopathy is it?
Grade 3 or 4
Evidence of papillodema - investigate
Baseline obs especially blood pressure
Formal acuity / visual field testing
CT imaging of brain with venous phases for sinus thombosis. Consider MR imaging
Consider LP for quantification of pressure / theraputic / investigation of raised protein
Risks for IIH. How do they present? Management?
Women
Obesity
Steroid use
Usually with headaches + visual disturbance
Treat with reducing body weight
- theraputic LP can be used in interim followed by diruetic eg ACETAZOLAMIDE - carbonic anhydrase inhibitor
-If this is not working may reqiure surgery eg VP shunting
Unilateral optic disk swelling causes
Optic neuritis
Optic nerve tumour
Central retinal vein occlusion
Why is the optic disc often normal in optic neuritis
Optic neuritis is commonly retrobulbar
Normal csf pressure?
4-20 cmH2O
What are visual obscurations
Transient distortion / loss of vision during manouvers which raise ICP - eg coughing and sneezing or bending forward
Suggests there is an immenent threat to sight and reducing pressure should occur
What is meant by a congruous visual field defect
Similar in both eyes
Ie occurs after the optic chiasm in brain
Name causes of homonymous hemaniopia
Most commonly stroke
Trauma
Infection
Migrane
Lesion in temporal lobe causes which visual field defect? Ipsilateral or contralateral?
Parietal?
Cause contralateral…
Temporal - Homonymous (congruous) superior quadraniopia
Parietal - inferior
What might you see in a parietal lobe lesion
Inferior contralateral homonymous quadraniopia
Dyscalcia - difficulty calculating
Dylexia - reading issues
Dysgraphia - writing issues
Asterionosia - loss of ability to identify objects by touch
Homonymous hemaniopia with good central vision?
Why?
Macula sparing
likely lesion in occipital lobe supplied by posterior cerebral artery
peripheral vision from posterior cerebreal artery and central from middle cerebral artery
Name 3 causes of bitemportal hemaniopia. which visual fields first?
Pituitary adenoma
- Sits inferiorly to chiasm
- Superior visual fields first
Cranoppharyngoma
- Sits superiorly
- Inferior fields first
Meningioma
Whats secreted by anterior vs posterior pituitary?
Anterior
- Adrenocorticotrophic hormone (ACTH)
- FSH, LH
- TSH
- Prolactin
Posterior
- Oxytocin
- ADH
Where do craniophynomas come from
remnants of Rathke’s pouch,
Please present this patient with cerebellar syndrome
The speech is dysarthric and there is evidence of nystagmus in all directions.
There is evidence of rebound phenomenon and finger nose testing demonstrates past pointing and intention tremor.
There is also disdiadokinesis and impaired heel shin testing.
The gait is ataxic but rhombergs test was negative.
to complete my exam I would like to perform a full cranial nerve and neurological exam
Why would you examine cranial nerves after cerebellar exam
Lesions eg stroke / tumour / demyelination in posterior fossa may affect both.
What is an intention tremor
A tremor that is not present at rest but is present on movement
- Gets maximal on reaching target
What is disdiadokinesis
assessment of rapid alternating movements
What is past pointing
overshooting the target
What is rhombergs demonstrating
Worsening ataxia when visual stimuli removed
Usually much worse with a sensory ataxia rather than a cerebellar ataxia
What is sensory ataxia? pathophysiological cause
Ataxia caused by loss of proprioception
- Damage to dorsal collum
- Peripheral neuropathy
In ataxia what key medication / SH is required
Phenytoin
Alcohol
Family history
Which cancers causes paraneoplastic cerebellar degeneration?
How to test?
Small cell lung cancer
Ovarian Ca
Lymphoma
Anti-Neuronal antibodied
Eg Anti-hu / Anti-yo
If there is a family history of cerebellar ataxia what would be your differential?
Dominant usually present in adulthood
- There are a group of approx 15 autosomal chronic degenerative cerebellar ataxias which are grouped by number of the chromosome they are found on.
Resessive - usually present in childhood
- Friedreich’s ataxia
- Ataxia telangectasia
Name 5 associated features of Friedreich’s ataxia
Diabetes
Optic atrophy
Cardiomyopathy
Kyphoscoliosis
Seonsory neuropathy
Dont go walking on the DOCKS if you have ataxia
Name some causes of nystagmus? Which direction is the nystagmus?
Cerebellar syndrome
- Eg demyelination, infaction or SOL
Vestibular issues often associated with N&V / tinnutus and impoved by keeping the head still
Nystagmus - the fast phase is towards. Slow phase is away
Present this patient with parkinsons
This middle aged gentleman has features of parkinsons.
There is cogwheel rigitidy of his wrists and lead pipe rigidity of his arms with an assymetic pill rolling tremor
He had an expressionless face and low volume, slow speech
There was a shuffling gait with a stooped posture and lack of arm swing.
He demonstrated bradykinesis when asked to perform rapid hand movements and micrographia when asked to write a sentence
I would like to complete my exam by performing a full neurological exam, and assessment of L/S blood pressure .
What is a lewy body
Alpha-synuclein (α-syn) is a protein that plays a role in the development of Parkinson’s disease (PD).
In PD, α-syn misfolds and clumps together into Lewy bodies (LBs).
These clumps may be toxic and spread from neuron to neuron, potentially causing the disease to spread throughout the brain.
What is a SPECT scan? used when?
Single proton emission CT
Used in parkinsons to look at reduced dopamine in substatia nigra. Does not distinguish between parkinsons and parkinsons plus.
May use in a patient with a tremor when essential tremor and parkinsons are hard to differentiate
What are Tardive dyskinesia?
What are dystonias?
slow onset repetitive involuntary movements. Eg lip smacking and tongue protrusion
prolonged muscle contractions causing abnormal postures
Both seen with prolonged use of Levodopa
Differentiate an essential tremor from parkinsons
Essential
- often symmetrical
- More prominet on movements
- Often improves with alcohol
What cognitve impairments in parkinsons
- Depression common
- Lewy body dementia
- Common to get cognitive impairment in corticobasal degeneration and PSP
Psychosis associated with medications
Name 4 drug causes of peripheral neuropathy
Cant Veel PAIN
cisplatin
cyclosporin
Vincristine
Phenytoin
Amiodarone
Isoniazid
Nitrofurantoin
[Metronidazole ]
Peripheral neuropathy investigations
Bedside
Blood glucose / urine dip
Bloods
Fasting blood sugar, HBA1C, Urea / renal function
Thyroid function
ESR
autoantibodies
B12
Igs
If Acute -> LP for raised protein (Gillian barre)
Nerve conduction studies to help clarify diagnosis and to determine whether it is axonal or demyelinating
EMG - show signs of muscle denervation
You suspect gillian barre syndrome what would you do
Focused A-E
Check FVC and blood gas
Assess bulbar function - risk of aspitation
ECG and BP as risk of. arrythmia and autonomic compromise
If diarrhoea - sample for campylobacter as they have worse prognosis
Treatment may require IVIg or plasma exchange
Acute motor polyneuropathy causes
Gillian barre
Lead toxicity
Acute porphyria
Diptheria
Malignancy
Most acute causes will cause predominant motor
Palpable peripheral nerves with peripheral neuropathy
Leprosy
charcot marie tooth
acromegaly
amyloid
How do nerve conduction studies differentiate between peripheral neuropathies
Demyelinating - Affect velocity of nerve conduction
Axonal - affect amplitude of response
Peripheral neuropathy management
Conservative
- Minimise complciations eg foot ulcers
- Podiatary and supportive footware
- Mobility aids
Medical
- Control of cause Eg diabetes / b12 / alcohol
- Pain - eg Gabapentin / Tricyclic antidepressants
What is small fibre neuropathy
Motor, proprioception and vibration sense are all transported by large diameter axons
Pain and temperatire - small diameter axons
Small fibre damage eg alcohol toxicity is likely to affect small diameter axons first
->pain loss / burning
What is mononeuritis multiplex ? what conditions?
Mononeuropathy - single nerve palsy
In some conditions may develop multiple single nerve neuropathies which mimic a polyneuropathy
Causes
- Diabetes
- Vascultiis
- connective tissue diseases
- Malignancy
- Amyloiid
What is miller fisher syndome ? found in blood?
Varient of gillian barre
Triad of
Ataxia
arreflexia
opthalmoplegia
Anti-ganglioside antibodies
Please present this spastic paraperesis? Most important investigations?
On inspection I note a wheelchair and indwelling urinary catheter
There is dissuse atrophy affecting the muscles of the lower limbs
Tone is increased bilaterally
There is a symmetrical pryamidal pattern of weakness .
There is hyperreflexia
Pain and temperature sensation are reduced bilaterally with evidence of a sensory level at Eg T10
Gait examination revealed a spastic gait.
I think this is spastic paraparesis secondary to a spinal cord lesion.
I would like to perform an MRI scan of the spine and consider an MRI brain, LP, nerve condution studies and EMG following a full history (including family and trauma) neurological examination
What would make you think the dorsal collums were involved on exam? What would this mean if bilateral
Loss of proprioception and vibration predominant
- B12 deficiency
Any evidence of gastric surgery / crohns
[Dude Is Just Feeling Ill Bro]
What do oligoclonal bands suggest
MS - interthecal immunoglobin production
Causes of a spastic paraperesis
Extrinsic compression
- spondylosis
- vertebral disc disease
- Tumour
- Haematoma
Intrinsic
- Infective - Transverse myelitis
- Inflammatory - Demyelination
- Vascular - Spinal cord infarction
- Trauma
Congential
- cerebral palsy
- Spina bifida
Hereditary spastic parapersis
Primary lateral sclerosis
In a young person
Trauma
Demyelinating
Hereditary
In older
Spondylosis
Infarction
What is meant by anterior cord syndrome
- The anterior cord has the Spinothalamic and corticospinal tracts which causes.a reduction in power as well as pain and temperature sensation
- Often prioprioception and vibration sense are preserved
Eg Anterior spinal artery infarct or compression from degenerative vertebral disk / tumour
What is meant by posterior cord syndrome
The dorsal collums relay proprioception and vibration sense
- Conditions affecting posterior cord preferentially affect these with preservation of pain and temperature sensation
- Eg subacute combined degeneration of the cord in b12 deficiency
Egs of b12 deficiency
Dietary - vegans
Decreased absorbtion
- must have intrinsic factor eg pernicious anaemia
- Ability to absorb from terminal ileum - crohns / surgery
- Bacterial overgrowth
What is brown sequard syndrome
Caused by a unilateral spinal cord lesion
- Ipsilateral weakness and loss of proprioception and vibration
- Contralateral loss of pain and temperature sensation
At what level does the spinal cord terminate
L1
What is spinal shock
Acute spinal cord injury -> develop flaccid paralysis and may have loss of sensation / sphincter controll and autonomic dysfunction.
Eg Priaprism, hypotension, bradycardia
These findings often replaced by spastic parapersis over hours to days
What is dissociatted sensory loss
Some lesions in spinal cord can affect different tracts
Eg spinothalamic - pain and temp
Dorsal collum - prioprioception and vibration
This means not all sensory modalities are lost at the same time
Causes of diminished knee reflexes and extensor plantars
Mixed upper and lower signs
- MND
- Subacute degeneration of the cord
- Friedreich’s ataxia
- Syphilis - toboparesis
- Dual pathology - peripheral and cervical neuropathy
What is corda equina syndrome
- Spinal cord terminates at L1
- lumbar sacral nerve roots make up the cauda equina
- Compressive lesions below L1 conpress these -> cauda equina syndrome
This manifests as bilateral lower motorneuron weakness of legs and sensory loss in lumbarsacral dermatomes with abnormalities in sphincteric function.
Pain may occur
Lhermitte’s phenomenon is?
sensory experience that feels like an electrical shock or tingling sensation running down the spine when the patient flexes thier neck
Treatment of spasticity
Early phsio and use of orthotics
Baclofen / botox can be used
Present bulbar palsy ? To complete exam
This man presents with a small wringled tongue and evidence of fasiculations at rest.
The speech is nasal in character
The palate has limited movement on saying Ahh
Jaw jerk is absent
[To complete my exam I would like to test the gag reflex, examine for peripheral neurology and perform a SLT assesment]
Causes of bulbar palsy?
Pseudobulbar?
Bulbar
- Motor neurone disease
- Myaesthenia gravis
- Syngobulbia
- Guillian barre
- Poliomyelitis
- Neurosyphlis / sarcoid
Psuedobulbar
- Bilateral stroke of internal capsule
- MND
- MS
- Rarely head injuruy
Which are the bulbar nerves
CN 9-12
Where is the lesion in bulbar palsy?
Pseudobulbar?
Bulbar
- Either bilateral lower motor neurone
- In the Medulla
- Nuromuscular junction Eg myaesthenia.
Pseudobulbar palsy
- Occurs along corticobulbar tracts between cortex and medulla
Present pseudobulbar palsy
This lady has a tight small tongue which cannot be protruded
There is evidence of hot potato speech
Her jaw jerk is increased
I would like to examine the peripheral neuro systems for evidence of spaciticy
Present MND?
To complete?
There is global wasting in all limbs more prominently distally
There is presence of both upper and lower motor neuron lesions without sensory invovlment.
There is reduced power
Lower motor neurone signs include… fasiculations
Upper include upgoing plantars, spasticity
Coordination is slow but intact. There is no sensory disturbance
To complete my exam I would like to perform a full neurological exam espcially focuing on the bulbar cranial nerves with an assessment of swallowing, and forced vital capacity
What is meant by upper? lower motoro neurone lesions?
Upper
- lesions occuring before the anterior horn cell of spinal cord
- Typically present with increased tone / spaciticity, pyramydal pattern of weakness, and hyperreflexia
Lower
- Lesions affecting nerve after exit from anterior horn cell of spinal cord
- Hypotonia, fasiculations, muscle wasting, hyporeflexia
Explain MND pathophysiology
Chronic debilitating disorder often occuring in middle age, with progressive destruction of both upper and lower motor neurones.
Name some conditons where you could see fasciculaions
Physiologic - eg post exercise / electrolyte (low mg / potasium)
Medications eg salbutamol
Benign fasciulation disorder
MND
Syringomyelia
Spinal muscular atrophy (kennedy)
Charcot marie tooth
cervial spondylarthropathy
Examined upper limbs and think MND.
What is your differential and why is it not them
Syringomyelia
- would expect distal weakness and wasting with dissociated sensory loss
cervical myelopathy
- would expect dorsal column involvement
MND what symptoms might progress and how would you treat
Depression
- consider antidepressants
Pain - using alagesia pain ladder
dysphagia
- SLT and dietician for consideration of PEG
Speech and communication
- SLT team
Spasticity
- PT and orthoritc
- baclofen
Resp weakness
- resp team for consider niv.
Present myaesthenia
On inspection there is bilateral ptsosis and myopathic faces
Her speech is slightly dysarthric
There is normal tone in the limbs with proximal weakness bilaterally
There was evidence of fatiguability in held upwards gaze and proximal mscles of the limbs.
Sensation and coordination were normal.
Cough and sniff were weak.
There was no evidence of myotonia
To complete this exam I would complete spirometry and assess the swallow.
Myaesthenia differentials
My most likely differential is myaesthenia given the involvement of cranial nerves and perhiperal muscles with evidence of fatiguability
- Myopathies -poly/dematomyositis
I would not expect these to involve the extra ocular muscles - Autoimmune thyroid disease
could cause a myopathy and complex opthalmoplegia - Miller fisher syndome could cause complex opthalmoplegia and progressive descending weakness
- Inherited muscular dystrophies
Would not expect fatiguability - Lamber eaten myaesthenic syndrome
Would not expect fatiguabilities
Myaesthenia how does it usually present
Most cases present with purely occular myaesthenia
Remains confined to occular muscles in approx 15%
May have chewing / ptosis / issues holding head up
Resp weakness - SOBOE / chest infections
Limb weakness - diffculty rising from chair
If it remains confined to the eyes for 3 years it is likely that it will never progress to generalised myaesthenia
Why do you get fatiguability in myaesthenia
The normal decline in Ach availability in the neuro muscular junction on repeated neve impulses is much more significant when there is reduced Ach receptors on the post synaptic junction.
What is the role of EMG in myaesthenia
Repetitive stimulation of muscles may result in a decriment of thier action
May help to exclude other mimicks
only around 50% sensitive
Why do you image the thymus in myaesthania
10% have thymoma
75% thymus hyperplasia
Thymectomy is sometimes offered to young people
What is complex opthalmoplegia
Opthalmoplegia which isnt limited to a single cranial nerve
Name some conditions affecting the neuromuscular junction
Myaesthenia
Lambert eaton
Botulism
botulism pathophysiology
Botulinum toxin prevents release of Ach at NMJ
Name some differentiating features of Lamber eaton and myaesthenia
LEMS
- Tends to affect limbs
- May improve strength o exercise
- Increasing reflexes on repeated tapping / post exercise
Myaesthania
- predominant CNS
- normal reflexes
What does the sniff test test
Diaphragmatic weakness
High dose long term steroids what else do you need to give them
Calcium + bisphosphonate
PPI
Regular glucose and BP checks
Medications which worsen myaethenia
- Anaesthetics - non depolarising
- Antibiotics - Including surgery antibiotics (penicilliamine rarther than penicillin) Aminoglycosides, macrolides, quinilones
- antimalarials
- B blockers
- Magnesium
Arm and leg myotomes
C1/C2: Neck flexion and extension
C3: Lateral neck flexion
C4: Shoulder elevation and shrugs
C5: Shoulder abduction, external rotation, and elbow flexion
C6: Elbow flexion and wrist extension
C7: Elbow extension and wrist flexion
C8: Thumb extension and finger flexion
T1: Finger abduction and adduction
L1/L2: Hip flexion
L3: Knee extension
L4: Ankle dorsiflexion
L5: Big toe extension
S1: Hip extension, ankle plantarflexion, and ankle eversion
S2: Knee flexion
S3–S4: Anal wink
Causes of spinal cord compression
Trauma including disc prolapse
Spinal haematoma
Malignancy - primary or mets (lung breast prostate and others)\
Infective - osteomyelitis, TB and epidural collection
Inflammatory
Management of hypercalcaemia and cord compression in prostate mets
HyperCa
- Fluids
- bisphosphonates
Compression
Urgent
- Steroids
- Palliative ratiotherpay
- Analgesia
- Occationally surgery
After
- May need to involve palliative care team for psychological support
- Physio once possible
Which spinal tract carries what and where does it decussate
Dorsal collums
- proprioception vibration and light tough
- Ipislateral in cord
- Decussates in medulla
Anterior Spinothalamic
- Pain and temp
- Deccussates approx 2-3 segments above in cord then contralateral
Lateral corticospinal
- Motor
- Decussates in medulla
Explain what is meant by autonomic dysreflexia
Damage to cord above the level of the sympathetic outflow ~T5/6
-> Unbalanced sympathetic reflex
Results in.
- Hypertension
- Loss of bladder and bowel
- Sweating and Headaches
Below the level of injury impulses from spinothalamic and posterior collums.
However inhibitory outflow created by injury is unable to pass below level of obstruction
-> So release of neurotransmitters Eg noradrenaline and dopamine
-> Increase in blood pressure
Vasomotor reflexes attempt to decrease blood pressure though parasympathetic stimulation of heart.
-> severe sweating and skin flushing
Why check L/S BP in parkinsonism
Good to assess in MSA
Many treatments in parkinsons may cause postural symptoms
Talk to me about the treatment in Parkinsons
Not all patients need pharmacological treatment
Some may be able to have an acceptable level of indepence and QOL with assistance from PT, OT and sometimes dietitan.
Medical treatments include Levo-dopa + dopa carboxylase inhibitor is generally first line.
The distadvantage of this is that it will only be effective for a finite number of years
Others include dopamine agonists, anticholinergics which help with tremor and monoamine oxidase B inibitors which inhibit the break down of dopamine.
Also COMT inhibitors which prevent breakdown of dopamine
Some refractory cases reqiure surgical treatments such as deep brain stimulation
Friedricks ataxia diagnosis? investigations
Diagnosis - 2 copies of expanded GAA repeat of frataxin gene
Diabetes testing
Echocardiography
MRI brain / spinal cord
Causes of demyelination in central nervous system
My Progressive Central Pathways
MS
- Auttoimmune to myeline
Progressive multifocal leukoencephalopathy
- Caused by JC virus - think HIV / immunocompromised
- Including natalizumab for MS
- Predominant speech / visual symptoms (parietal and occupital most affected)
- JC virus in CSF
Central pontine myelinolysis
- Caused by rapid changes in osmotic pressures
- Chronic hyponatraemia which is too rapidly corrected
- Affects CNs 9-11 but not thier nuclei -> Pseudobulbar palsy
- Can cause locked in sydrome
Post infectious A[DEM] Acute disseminated encephalomyelitis
- Usually seen in children post infection with an acutely pregressive demyelination after infection.
- Autoimmune
- May look similar to MS on MRI / oligoclonal bands in CSF
- Doesn’t recur
Correction of Na too quick - From high to low your brain will blow, from low to high your pons will die
Causes of demyelination in peripheral nervous system and cause
Guillian-barre syndrome
- Camplylobacter, mycoplasma, CMV, EBV
- Segmental demyelination of peripheral nerves
Charcot-marie-tooth disease
- Most autosomal dominant
- causes defective schwann cells (PMP22 gene) or axonal cells
- Distal lower weakness and sensory symptoms
- Foot drop (common peroneal) and pes cavus (weak muscles of foot)
- Scoliosis
Diagnosis charcot marie tooth
- EMG and nerve conduction studies (type 1 demyelinating, type 2 axonal and others)
- Genetic testing PMP22
Seen on nerve biopsy of charcot marie tooth
Onion bulb formation
- nerve cell has inner layers of damaeged myelin with outer layers of replaced
Charcot marie tooth uppper limb findings
- Similar to lower but less severe
- Generalised wasting more prominent distal
- Hyporeflexia
- peripheral neuropathy
Complex neruo issues bloods
Neuropathy screen
Hiv bbv screen
Glucose hba1c
Igs
If give IVIg to IgA deficiency -> risk of allegic reaction
Key history point of charcot marie tooth
Family history (autosomal dominant)
Charot marie tooth key investigations
- Neurophysiolocial studies
Differentiate demyelinating / axonal - Genetic testing
Charcot marie tooth management
No disease modifying treatment
Conservative
- physio inc orthoptics eg foot drop
- OT help at home
- Consider screening of relatives
Bilat lower limb muscle wasting lower motor neurone signs differentials
Spinobulbar muscular atrophy
Progressive muscular atrophy
Duchennes muscular dystrophy
Bekker muscular dystrophy
Fascioscapular humeral muscular dystropy
Limb girdle muscular dystrophy
Bilat muscular dystrophy mostly affecting hips / shoulders
Limb girdle muscular dystrophy
Present Friedreich’s ataxia (Lower limb exam)
- On inspection this patient has a wheelchair / stick
- There is evidence of wasting of the lower limb muscles
- His speech is dystharthric and there is which supports evidence of a cerebellar ataxia
- However there is also evidence of dorsal collumn dysfuction with impaired proprioception and vibration sense distally
- Of note there was areflexic knee jerks but upgoing plantars indicating upper and lower motor neurone signs
In the context of someone young this would be compatable with Friedreich’s ataxia although other conditions could present similarly
Ataxia telangectasia? Genetics?
Pathophys?
Diagnosis?
Treatment?
Autosomal ressessive of ATM gene (Ataxia telangectasia mutant)
Usually codes for DNA repair
- Recurrent infection (T-lymphocyte dysfunction)
- Risk of Cancer
- Ataxia (Cerebellum)
- Telangectasia (unknown pathophys)
Diagnosis
- ATM gene
- Low Immunoglobulins
- raised alpha fetoprotein
Treatment
- Non specific Abx PT/OT/Dietician
- Monitoring for Ca
Types of gait
- Wide legged (broad based) - ataxic
- High stepping - foot drop = distal weakness
- Foot slapping (heavy) = sensory / proprioceptive loss
- Waddling (side to side as walk) = Proximal (hip girdle) weakness
Painful
Causes of Peripheral neuropathy total
DANG THERAPIST
Diabetes
Alcohol - directly toxic + Nutritional
Nutritional b12 / b1 / b6
Guillian barre / CIDP
Toxins - Can’t Veel PAIN.
Hereditary- charcot Marie tooth, Friedrich
Environmental - heavy metal eg lead , nitric oxide
Relapsing - CIDP
Amyloidosis
Paraproteinaemia
Systemic - renal failure uraemia, hypothyroidism, HIV, syphilis, lime
Tumours - paraneoplastic / nerve sheath
L5 vs common peroneal
Both cause foot drop
L5 nerve
Pain in the buttocks and numbness, and problems with both foot inversion and eversion
Common peroneal nerve
Numbness just below the knee, and problems with foot eversion, but intact foot inversion
Bar plantar what is another pathological reflex in leg? Hands?
Crossed adductor reflex
- Precus medial thigh -> if other leg moves to adduct it is positive
Hoffman in hands
Neuropathy screen
LFTs alcohol
Ureamia
Hba1c
B12 foliate
Paraproteins
Thyroid function
Burning pain in peripheral neuropathy pharmacological management
Amitrip / duloxetine
Macular sparing stroke?
Which vessle if macular sparing and unilateral weakness with homonymous hemaniopia
Macular sparing = in occipital lobe
- Could be either posterior / middle cerebral artery as both supply the part of occipital lobe which have macula
Middle cerebral atery
-> likely to get weakness on the same side as the homonymous hemaniopia
Differentials of night blindness in young people
Retinitis pigmentosa
Cataracts - if diabetic / steroid
Glaucoma
Short sighted
Diabetic retinopathy
Vitamin A/E deficiency if pancreatic / CF patients
Pappiloaedema
Lebers optic atrophy
Toxic eg methanol
Retinitis pigmentosa management ? Prognosis?
Confirm with opthalmology
Referral to a geneticist - variable inheritence based on cause
No treatements
Signpost to charities
OT - visual aids
Most people are registered blind by middle age
Main drug cause myaesthenia
Immune checkpoint inhibitor
Tends to -> myasthenia (seropostive) myositis and myocarditis
Triple M
Issues with steroids in myaesthenia
- Steroid dip - temporary worsening of symptoms when commenced
- Long term - diabetes, HTN, cushing, thinning skin / brusing, adrenal insufficiency, AVN…
Botulism vs myaesthenia
Botulism
- more rapidly progressive
- Involves pupil
