NEURO - clinical Flashcards
Causes of an ischaemic stroke (ie. ways in which blood supply to the brain may be disrupted)
- Thrombus (formation of a blood clot in a vessel) or Embolus (dislodged blood clot travels to brain –> eg. from heart in a pt with AF)
- Atherosclerosis (buildup of plaque in arteries) –> ruptured plaque can cause a thrombus
- Shock (significant drop in blood pressure –> decreased perfusion of brain)
- Vasculitis (inflammation of blood vessel walls in brain which can lead to narrowing of the vessels)
Definition of stroke, TIA, crescendo TIAs
- Stroke = a clinical syndrome characterised by rapidly developing clinical symptoms and/or signs of focal neurological deficit lasting more than 24hrs and thought to be of vascular origin
- TIA = stroke signs/symptoms that resolve within 24hrs, caused by ischaemia but without infarction (in practice they usually resolve within a few hours)
- Crescendo TIAs = two or more TIAs within a week and indicate a high risk of stroke
Presentation of a stroke (common symptoms)
Sudden-onset of neurological symptoms suggest a vascular cause, symptoms are asymmetrical (one-sided):
- Hemiparesis (one-sided muscle weakness) - eg. limb weakness, facial weakness
- Dysphasia/Aphasia (speech disturbance - expressive/receptive/global)
- Visual field defects (homonymous hemianopia –> loss of one half of visual field in each eye, resulting in neglect on one side of body)
- Sensory loss
- Ataxia and vertigo (a feature of posterior circulation infarction)
Risk factors for a stroke
- Smoking (atherosclerosis)
- Atrial fibrillation (embolic stroke)
- Carotid artery stenosis
- PMH of stroke/TIA or cardiovascular disease/vascular disease (risk factors are present)
. - Other –> hypertension, diabetes, hypercholesterolemia, obesity, family hx, vasculitis, , thrombophilia, and combined oral contraceptive pill
FAST tool for stroke
simple way to identify stroke in the community
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F – Face
A – Arm
S – Speech
T – Time (act fast and call 999)
ROSIER score, what does it stand for and what score indicates a stroke is likely?
Recognition Of Stroke In The Emergency Room
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Exclude hypoglycaemia first then assess the following:
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A stroke is likely if ≥ 0
Management of a TIA (or crescendo TIAs)
Symptoms should have completely resolved within 24hrs of onset.
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1. Aspirin 300mg daily (start immediately)
2. Referral for specialist assessment within 24hrs (within 7 days if more than 7 days since the episode)
3. Diffusion-weighted MRI scan (can detect small, acute ischaemic lesions in brain –> characteristic of a TIA, but not all TIA pts will have positive findings)
Management of ischaemic stroke
- Exclude hypoglycaemia
- Non-contrast CT brain (to exclude haemorrhage)
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Once haemorrhage excluded: - Aspirin 300mg OD for 2 weeks
- If within 4.5hrs onset –> IV thrombolysis (with alteplase)
- Thrombectomy (if proximal anterior circulation or proximal posterior circulation stroke) can be considered within 24hrs of symptom onset + alongside IV thrombolysis
Note: only treat blood pressure if hypertensive emergency –> lowering blood pressure can worsen the ischaemia
CT perfusion or CT angiography used to assess salvageable brain tissue
What investigations should be done for patients with a TIA or stroke to assess for underlying causes?
- Carotid artery doppler USS, or CT, or MRI angiogram –> > 50% carotid artery stenosis indicates carotid endarterectomy due to risk of clot embolising
- ECG or ambulatory ECG monitoring –> if there is atrial fibrillation, then anticoagulation should be started (but after finishing 2 weeks of aspirin)
Secondary prevention of ischaemic stroke
- Clopidogrel 75mg OD (for life) –> alternatively aspirin plus dipyridamole
- Atorvastatin 20-80mg (not started immediately, usually delayed at least 48hrs)
- Blood pressure and diabetes control
- Address modifiable risk factors –> smoking, obesity, and exercise
Does stroke always affect the contralateral side of the body?
Not always –> if cerebellum affected then ipsilateral presentation
Oxford classification of stroke (Bamford classification)
Broca’s aphasia vs Wernicke’s aphasia
- Broca’s –> expressive dysphasia (pt can understand what is said but cannot express with words, difficult to speak)
- Wernicke’s –> receptive dysphasia (pt doesn’t understand what is being said, but can still talk normally, but it doesn’t make any sense)
MCA infarct:
- locations affected?
- symptoms associated
- Locations affected –> frontal, parietal, and temporal lobes
Symptoms:
- hemiparesis –> arm worse than leg
- Sensory loss
- Facial weakness –> facial droop/dysarthria
- Dysphasia –> expressive, receptive, global
- Hemianopia –> without macula sparing
If a right-hand dominant patient has Broca’s or Wernicke’s aphasia then which side is the stroke?
- Left MCA
- Broca’s and Wernicke’s area are found in the dominant cerebral hemisphere
- left side for right-handed
- right side for left-handed
ACA infarct:
- locations affected?
- symptoms associated
- Locations affected –> frontal and parietal lobes
Symptoms:
- hemiparesis –> leg worse than arm
- Apathy –> lack of interest, enthusiasm, or concern
- incontinence
- Disinhibition –> lack of restraint in social scenarios (affects motor, emotional, cognitive, instinctual, and perceptual behaviours)
- Mutism
Lacunar stroke:
- locations affected?
- symptoms associated
- most common cause
Locations affected –> Lenticulostriate arteries (small penetrating arteries that supply deep structures
(susceptible to injury secondary to uncontrolled hypertension)
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Symptoms:
- Pure motor –> hemiparesis or hemiplegia, dysrthria, dysphagia
- Pure sensory –> numbness/tingling/pain on one side of body
- Sensorimotor –> hemiparesis or hemiplegia with contralateral sensory impairment
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Most common cause –> long-standing hypertension
What are the watershed zones?
- Symptoms for each
Watershed zones are prone to infarction as they receive blood supply from two arteries
PCA infarct:
- locations affected?
- symptoms associated
Locations affected –> mainly occipital, parts of temporal
Symptoms:
- Hemianopia –> with macular sparing
- Amnesia
- Sensory loss (thalamus)
- Thalamic pain
Where does the basilar artery supply + what syndrome occurs if there is infarction of the basilar artery?
- Supplies lower midbrain, pons, and medulla (and occipital lobe)
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Infarction of basilar artery –> causes locked-in syndrome - pt has full consciousness, but is paralysed
- quadriplegia (due to damage to corticospinal tracts)
- pt has to be ventilated due to respiratory muscles being paralysed too –> can result in respiratory failure and coma/death
Contraindications for thrombolysis
- Bleeding risk –> pt on DOAC or Warfarin (check INR) OR history of bleeding OR pt has bleeding disorder
- Uncontrolled hypertension –> BP > 180/120mmHg
What investigation should be done 24hrs after onset of a stroke
Repeat CT head to check for haemorrhagic transformation
NIH stroke scale (NIHSS) + criteria for no stroke/mod stroke/mod-sev/severe
NIH Stroke Scale (NIHSS) –> used in secondary care as an initial assessment of the patient for suspected stroke and gives a rough idea of how severe the stroke is:
- < 5 –> no stroke/minor
- 5-15 –> moderate
- 16-20 –> moderate-severe
- 21-42 –> severe
What sign on a CT head can sometimes be seen which indicates an ischaemic stroke?
Dense MCA sign –> visible immediately, shows the responsible arterial clot
Complications of stroke (hospital problems)
- dysphagia/aspiration pneumonia –> most common cause of death pst-stroke in hospital setting –> SLT assessment + fluids
- DVT/PE –> normal pt (antiplatelets), stroke pt (mechanical stockings –> we don’t want to turn an ischaemic stroke into a haemorrhagic stroke)
- UTI –> stroke can cause bowel/bladder issues
- spasticity
- shoulder subluxation
- depression
- nutrition
- pressure sores –> look for bruising on pressure areas of body
Cerebellar stroke symptoms
- Problems with moving/walking –> cerebellum is part of brain responsible for balance
- Vertigo –> ‘room spinning’
- muscle weakness or tremors
- headache
- nausea and vomiting
- hearing and vision problems
Stroke/TIA –> DVLA guidelines for car drivers
- Must stop driving immediately
- Must stop for 1 month
- Must inform DVLA if after 1 month you still have –> weakness in arms or legs, eyesight problems (visual filed loss or double vision), or problems with balance, memory, or understanding –> or if doctor says not safe to drive
Stroke/TIA –> DVLA guidelines for bus/lorry drivers
- stop driving immediately
- Must stop driving for at least one year, can only restart when doctor says it is safe
Homonymous hemianopia in PCA vs MCA
- PCA –> macular sparing due to occipital dual blood supply
- MCA –> without macular sparing
4 types of intracranial haemorrhage and anatomy of where the bleeding is
- Extradural haemorrhage - bleeding between the skull and dura mater
- Subdural haemorrhage - bleeding between the dura mater and arachnoid mater
- Intracerebral haemorrhage - bleeding into brain tissue
- Subarachnoid haemorrhage - bleeding in the subarachnoid space
Risk factors for intracranial bleeds
- Head injuries
- Hypertension
- Aneurysms
- ischaemic stroke transformation to haemorrhagic
- Increased bleeding risk –> thrombocytopenia (low platelets), bleeding disorders (eg. haemophilia), anticoagulants (DOACs or Warfarin)
Presentation of intracranial bleeds
- sudden-onset headache
- seizures
- vomiting
- reduced GCS
- focal neurological symptoms (eg. weakness)
Glasgow coma scale (GCS)
GCS is used to assess level of consciousness
- GCS ≤ 8 –> requires intubation (airway support) due to risk of airway obstruction or aspiration, leading to hypoxia and brain injury
Extradural haemorrhage:
- rupture of which artery is the usual cause + fracture of which bone is associated?
- shape on CT scan
- typical history
- Middle meningeal artery in the temporoparietal region (can be associated with a fracture of the temporal bone)
- bi-convex shape on CT scan
- typical history –> young pt with a traumatic head injury and an ongoing headache, symptoms/consciousness can improve initially, but then rapidly decline over hrs due to haemataoma increasing in size and compressing intracranial contents
Subdural haemorrhage:
- rupture of which veins are the usual cause?
- shape on CT scan
- typical history
- rupture of the bridging veins in the outermost meningeal layer
- crescent shape on CT scan
- typical history –> usually occurs in elderly and alcoholic pts (who have more atrophy in their brains) making the vessels more prone to rupture
Intracerebral haemorrhage:
- causes
- potential locations of bleed
- can occur spontaneously or secondary to ischaemic stroke, tumours, or aneurysm rupture
- can occur anywhere in brain tissue –> lobar, deep, intraventricular, basal ganglia, cerebellar
Principles of management for an intracranial bleed
- Immediate CT head to establish diagnosis
- Bloods: FBC (for platelets) and a coagulation screen
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1. Admission to a specialist stroke centre/neurosurgery - If GCS decreased –> consider intubation, ventialtion, and intensive care
- Address any bleeding risk –> reversal agents for anticoagulation, platelet transfusions
- Correct severe hypertension, but avoid hypotension
- Surgical options –> craniotomy (section of skull removed), Burr holes (small holes drilled into skull to drain blood)
Reversal agents for:
- Warfarin
- Heparin/LMWH
- Apixaban, edoxaban, and rivaroxaban
- Dabigatran
- Warfarin –> PCC (prothrombin complex concentrate) for rapid reversal + Vitamin K
- Heparin/LMWH –> protamine sulfate
- Apixaban, edoxaban, and rivaroxaban –> andexanet alfa
- Dabigatran –> idarucizunab
For patient’s on anticoagulant therapy (eg. Warfarin), what is the INR target range? + what value indicates a risk of bleeding?
- 2.0-3.0
- > 4.9 is high risk of bleeding
Usual cause of a subarachnoid haemorrhage
Rupture cerebral aneurysm (eg. saccular “berry” aneurysms)
- can also be traumatic cause (head injury)
Presentation of a subarachnoid haemorrhage
- Sudden-onset occipital headache (“thunderclap” or “hit with a baseball bat”) - typically peaking in intensity within 1-5 mins
- (may be a hx of a less severe ‘sentinel’ headache a few days before)
. - Nausea and vomiting
- Meningism - photophobia +/- neck stiffness
- Neuro symptoms - visual changes, dysphasia, focal weakness, seizures, reduced consciousness
Investigations for a suspected subarachnoid haemorrhage + what investigation would you do after confirming the diagnosis to locate the source of the bleeding?
- non-contrast CT head (1st-line) - needs to be done < 6hrs onset of symptoms, otherwise less reliable
- Lumbar puncture (wait at least 12hrs after onset of symptoms) –> raised RBC + xanthochromia
. - CT angiography - used after confirming diagnosis to locate the source of the bleeding
When investigating a SAH, why should a lumbar puncture be performed at least 12hrs after onset?
to allow for Xanthochromia to form –> RBC breakdown (bilirubin)
Subarachnoid haemorrhage - Acute management
- Refer to neurosurgery –> endovascular coiling OR neurosurgical clipping to repair aneurysm
- Nimodipine (Ca channel blocker) –> used to prevent vasospasm (a common complication following a SAH, which can result in brain ischaemia)
- Supportive: analgesia +/- address any bleeding risks
Vasospasm is a common complication following a subarachnoid haemorrhage, name two other complications that can occur
- Hydrocephalus –> treatment options include lumbar puncture, external ventricular drain, or a ventriculoperitoneal (VP) shunt
- Seizures –> treated with anti-epileptic drugs
What is multiple sclerosis (MS)?
a chronic and progressive autoimmune condition involving demyelination in the central nervous system (oligodendrocytes), where the immune system attacks the myelin sheath of neurones
Who is most commonly affected by MS?
Young adults (under 50 years), with a higher prevalence in women
What is the role of myelin in the nervous system + which cells provide myelin in the CNS and the PNS?
Myelin covers the axons of neurones and helps electrical impulses travel faster
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- CNS –> Oligodendrocytes
- PNS –> Schwann cells
What happens in MS at a cellular level?
Inflammation and immune cell infiltration cause damage to the myelin in the CNS, affecting the electrical signals moving along the neurones
What is a characteristic feature of MS lesions?
They are “disseminated in time and space” –> meaning damage caused by the disease is spread across different areas of the CNS (brain and spinal cord) at different points in time
In multiple sclerosis, what happens to myelin in early VS late disease?
- Early disease –> remyelination can occur, leading to symptom resolution
- Late disease –> remyelination is incomplete and symptoms become more permanent
What is the most common initial presentation of multiple sclerosis (MS) + features
Optic neuritis
- central scotoma
- pain with eye movement
- impaired colour vision
- relative afferent pupillary defect (RAPD)
Describe a relative afferent pupillary defect (RAPD)
where the pupil in the affected eye constricts more when shining a light in the contralateral eye than when shining it in the affected eye
How is optic neuritis managed?
Urgent ophthalmology input and high-dose steroids
What cranial nerves are affected in MS leading to diplopia (double vision) and nystagmus?
CN III (oculomotor), CN IV (trochlear), and CN VI (abducens)
What is internuclear ophthalmoplegia?
A lesion in the medial longitudinal fasciculus causing impaired adduction in one eye and nystagmus in the contralateral abducting eye
- the nerve fibres of the medial longitudinal fasciculus connect the cranial nerve nuclei (“internuclear”) that control eye movements (3rd, 4th, and 6th cranial nerve nuclei)
What is a conjugate lateral gaze disorder?
A lesion in CN VI (abducens) causing failure of the affected eye to abduct when looking laterally
- eg. in a lesion involving the left eye, when looking to the left, the right eye will adduct (move towards the nose), and the left eye will remain in the middle
What focal motor symptoms can MS present with + what focal sensory symptoms can MS present with?
Focal motor symptoms –> limb paralysis, incontinence, Horner’s syndrome, facial nerve palsy
.
Focal sensory symptoms –> trigeminal neuralgia, numbness, paraesthesia (pins and needles), Lhermitte’s sign
What is Lhermitte’s sign (a feature of MS)?
an electric shock sensation that travels down the spine and into the limbs when flexing the neck –> indicates disease in the cervical spinal cord in the dorsal column
What is transverse myelitis?
a site of inflammation in the spinal cord, causing sensory and motor symptoms depending on lesion location
What are the two types of ataxia seen in MS?
- Sensory ataxia –> due to loss of proprioception (+ve Romberg’s test)
- Cerebellar ataxia –> due to a lesion in the cerebellum, causing coordination problems
What is clinically isolated syndrome (CIS) in MS?
CIS describes the first episode of demyelination and neurological signs/symptoms –> may or may not progress to MS
What is the most common disease pattern in multiple sclerosis + what are the other two disease patterns?
Relapsing-remitting MS (RRMS) –> characterised by episodes of disease and neurological symptoms, followed by recovery
- can be classified as active (new symptoms are developing, or new lesions are appearing on the MRI) or worsening (there is an overall worsening of disability over time)
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- Secondary progressive MS –> where there was relapsing-remitting disease, but now there is a progressive worsening of symptoms with incomplete remissions
- Primary progressive MS –> involves worsening disease and neurological symptoms from the point of diagnosis, without relapses and remissions
What investigations can support an MS diagnosis?
- MRI scans –> detects demyelinating lesions
- Lumbar puncture –> detects oligoclonal bands in CSF
How is MS managed generally + how are acute relapses managed?
General management:
- MDT (neruologists, nurses, physiotherapists, and occupational therapists)
- Disease-modifying therapies –> to reduce relapses and slow disease progression
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Acute relapses:
- Oral steroids (500mg) OD for 5 days
- IV steroids (1g) OD for 3-5 days (if oral steroids fail or for severe relapses)
What are some symptomatic treatments for MS?
- Exercise –> maintain activity and strength
- Fatigue management –> amantadine, modafinil, SSRIs
- Neuropathic pain –> Amitriptyline, gabapentin
- Depression –> SSRIs
- Urge incontinence –> Antimuscarinics (e.g., solifenacin)
- Spasticity –> Baclofen, gabapentin
- Oscillopsia –> Gabapentin, memantine
What is motor neurone disease (MND) + does MND affect sensory neurones?
MND is a progressive and eventually fatal condition where the motor neurones stop functioning
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There is NO effect on sensory neurones
What is the most common type of MND + which famous scientist had this condition?
Amyotrophic lateral sclerosis (ALS) –> Stephen Hawking had ALS
What is the second most common form of motor neurone disease?
Progressive bulbar palsy –> affects the muscles of talking and swallowing (the bulbar muscles)
What are the common intial symptoms of MND?
- Insidious, progressive muscle weakness, clumsiness, dropping objects, tripping, and slurred speech (dysarthria)
- with the absence of sensory symptoms
Signs of lower motor neurone disease
- Muscle wasting
- Reduced tone
- Fasciculations (twitches in the muscles)
-Reduced reflexes
Signs of upper motor neurone disease
- Increased tone or spasticity
- Brisk reflexes
- Upgoing plantar reflex
How is MND diagnosed?
Clinically by a specialist –> often after excluding other conditions (diagnosis is often delayed)
In MND, there are no effective treatments for halting or reversing the progression of the disease. What medication can slow ALS progression and extend survival by a few months?
Riluzole
How is breathing supported in MND?
Non-invasive ventilation (NIV) when respiratory muscles weaken
What symptomatic treatments are available for MND?
- spasticity
- excessive saliva
- anxiety-induced breathlessness
- spasticity –> baclofen
- excessive saliva –> antimuscarinics
- anxiety-induced breathlessness –> benzodiazapines
What is the main cause of death in MND?
Respiratory failure (due to weakened respiratory muscles) or pneumonia
What is Parkinson’s disease?
a condition where there is a progressive reduction in dopamine in the basal ganglia –> leading to disorders of movement
What is the classic triad of Parkinson’s disease symptoms?
- Resting tremor (a tremor that is worse at rest)
- Rigidity (resisting passive movement)
- Bradykinesia (slowness of movement)
What are the main functions of the basal ganglia?
- coordinating habitual movements
- controlling voluntary movements
-learning specific movement patterns
How does the tremor in Parkinson’s disease typically present?
- worse on one side and has a 4-6 Hz frequency
- “pill-rolling” appearance
- worse at rest, improves with movement
- exaggerated by distraction –> *eg. performing a task with the other hand exaggerates the tremor”
What is cogwheel rigidity?
a jerky resistance to passive movement, typical in Parkinson’s disease
How does bradykinesia present in Parkinson’s disease?
- Micrographia (handwriting gets smaller and smaller)
- Shuffling gait with festination (small steps with rapid frequency of steps to compensate for small steps and avoid falling)
- Difficulty initiating movement (pt might freeze and struggle to get moving again)
- Difficulty turning (lots of little steps to turn)
- Hypomimia (reduced facial movements and facial expressions)
In Parkinson’s disease, other than the classic triad of symptoms (resting tremore, rigidity, and bradykinesia), what are some other features?
- Depression
- Sleep disturbance and insomnia
- Loss of the sense of smell (anosmia)
- Postural instability (increasing the risk of falls)
- Cognitive impairment and memory problems
Parkinson’s disease VS Benign Essential Tremor
What is multiple system atrophy?
A Parkinson’s-plus syndrome, where there is degeneration of the basal ganglia (causing Parkinson’s presentation) and degeneration in other areas (leading to autonomic dysfunction and cerebellar dysfunction)
- autonomic dysfunction –> postural hypotension, constipation, abnormal sweating, and sexual dysfunction
- cerebellar dysfunction –> causing ataxia
What is dementia with Lewy bodies?
A Parkinson’s-plus syndrome, which is a type of dementia associated with features of Parkinsonism, it causes a cognitive decline with associated symptoms of visual hallucinations, delusions, REM sleep disorder, and fluctuating consciousness
Parkinson’s disease, describe each of the below…
- Multiple system atrophy
- Dementia with Lewy bodies
Multiple system atrophy:
- where neurones of various systems in the brain degenerate, including the basal ganglia
- degeneration in the basal ganglia leads to a Parkinson’s presentation
- degeneration in other areas leads to autonomic dysfunction and cerebellar dysfunction (causing ataxia)
.
Dementia with Lewy bodies:
- type of dementia associated with features of Parkinsonism
- causes a progressive decline
Other than multisystem atrophy and dementia with Lewy bodies, what are two other Parkinsons-plus syndromes?
- Progressive supranuclear palsy
- Corticobasal degeneration
How is Parkinson’s disease diagnosed?
Clinically based on history and examination findings
- NICE recommend the ‘UK Parkinson’s Disease Society Brain Bank Clinical Diagnostic Criteria’
What is the main goal of Parkinson’s disease management + what are the main drug classes used to treat Parkinson’s disease?
- to control symptoms and minimise side effects, as there is no cure
- pts may describe themselves as “on” when the medications are acting and “off” when the medications wear out, they are experiencing symptoms and their next dose is due
. - Levodopa (combined with peripheral decarboxylase inhibitors)
- COMT inhibitors
- Dopamine agonists
- Monoamine oxidase-B inhibitors
What is levodopa, and why is it combined with other drugs?
- a synthetic dopamine that is usually combined with a peripheral decarboxylase inhibitor (eg. carbidopa or benserazide)
- which stops it from beings metabolised in the body before it reaches the brain
. - levodopa becomes less effective over time, so other drugs can be used in combination to reduce the dose of levodopa and increase effectiveness of treatment
What are examples of levodopa combination drugs?
- Co-beneldopa (“Madopar”) = levodopa + benserazide
- Co-careldopa (“Sinemet”) = levodopa + carbidopa
What is the main side effect of levodopa + what medication can be given to manage this?
Dyskinesia (abnormal movements associated with excessive motor activity)
- examples include –> dystonia (abnormal postures), chorea (jerky, random movements), athetosis (twisting/writhing movements)
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Amantadine (glutamate antagonist) can be used to manage dyskinesia associated with levodopa
What is the role of COMT inhibitors (e.g., entacapone) in Parkinson’s disease?
They slow the breakdown of the levodopa in the brain –> therefore extending the effective duration of the levodopa
- the COMT enzyme metabolises levodopa in both the body and brain
What is the role of dopamine agonists in Parkinson’s disease + give examples of dopamine agonists
They mimic the action of dopamine in the basal ganglia, stimulating the dopamine receptors –> they can be used to delay levodopa use or be used in combination with levodopa to reduce the required dose
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- bromocriptine
- pergolide
- cabergoline
What is the role of monoamine oxidase-B inhibitors (e.g., selegiline, rasagiline) in Parkinson’s disease?
They block dopamine breakdown and therefore helping to increase the circulating dopamine
- monoamine oxidase enzymes break down neurotransmitters such as dopamine, serotonin, and adrenaline –> monoamine oxidase-B is more specific to dopamine
. - they are typically used to delay the use of levodopa, then in combination with levodopa to reduce the “end of dose” worsening symptoms
What is benign essential tremor?
a common condition in older adults, causing a fine tremor in voluntary muscles (especially the hands)
What areas of the body can be affected by benign essential tremor?
- Hands (most common)
- Head
- Jaw
- Vocal cords (causing vocal tremor)
What are the key features of benign essential tremor?
- Fine tremor (6-12 Hz)
- Symmetrical
- Worse with voluntary movement
- Exacerbated by stress, fatigue, or caffeine
- Improved by alcohol
- Absent during sleep
What are key differential diagnoses for a tremor?
- Parkinson’s disease
- Multiple sclerosis
- Huntington’s chorea
- Benign essential tremor
- Hyperthyroidism
- Fever
- Dopamine antagonists (e.g. antipsychotics)
What is the management of benign essential tremor?
No treatment is required unless it causes functional or psychological distress
.
Symptomatic treatment:
- Propranolol (a non-selective beta blocker)
- Primidone (a barbiturate anti-epileptic medication)
What is epilepsy?
a condition characterised by seizures –> seizures are transient episodes of abnormal electrical activity in the brain
What are the main types of seizures seen in adults?
- Generalised tonic-clonic seizures
- Partial (focal) seizures
- Myoclonic seizures
- Tonic seizures
- Atonic seizures
What are the common types of seizures in children?
- Absence seizures
- Infantile spasms
- Febrile convulsions
What are the characteristics of a generalised tonic-clonic seizure (also called grand mal seizures)?
- Tonic phase (muscle tensing) followed by clonic phase (muscle jerking)
- Complete loss of consciousness
- Possible aura before seizure –> abnormal sensation that a seizure is about to occur
- May also involve tongue biting, incontinence, groaning, and irregular breathing
- After the seizure –> prolonged post-ictal period (confusion, tiredness, irritability)
How do partial (focal) seizures present?
- Involve isolated brain areas (often temporal lobes)
- Affect hearing, speech, memory, and emotions
- Symptoms depend on location –> eg. déjà vu, strange sensations (smells/taste/sight/sound), unusual emotions, abnormal behaviours
.
Two subtypes (pts remain awake, but awareness can be impaired): - Simple partial –> pt remains aware
- Complex partial –> loss of awareness
What are the features of myoclonic seizures?
- Sudden, brief muscle contractions (like a jolt)
- Patient remains awake
- can occur as part of juvenile myoclonic epilepsy in children
What are the features of tonic seizures?
- Sudden onset of increased muscle tone (entire body stiffens)
- Often results in a fall backwards if the pt is standing
- Lasts a few seconds to minutes
What are atonic seizures (“drop attacks”)?
- Sudden loss of muscle tone, usually resulting in a fall
- Brief duration
- Patient usually remains aware
- Often begins in childhood –> can indicate Lennox-Gastaut syndrome (rare and severe form of epilepsy, often resistant to treatment)
What are the key features of absence seizures?
- Usually seen in children
- Brief blank episodes, staring into space, and then abruptly returns to normal
- during the episode –> pt is unaware of their surroundings and do not respond
- typically last 10-20 seconds
- most pts stop having absence seizures as they get older
What is infantile spasms (West syndrome)?
- Rare disorder, starting at 6 months
- presents with clusters of full-body spasms
- Characteristic EEG finding –> hypsarrhythmia
- Associated with developmental regression and has a poor prognosis
- Treated with ACTH and vigabatrin
What are febrile convulsions?
- Tonic-clonic seizures in children with high fever
- NOT caused by epilepsy or other pathology (eg. meningitis or tumours)
- do not cause any lasting damage
- Occurs between 6 months and 5 years
- 1 in 3 will have another febrile convulsion
- Slightly increased epilepsy risk
What are important differential diagnoses for seizures?
- Vasovagal syncope (fainting)
- Pseudoseizures (non-epileptic attacks)
- Cardiac syncope (e.g., arrhythmias or structural heart disease)
- Hypoglycaemia
- Hemiplegic migraine
- Transient ischaemic attack
- Alcohol withdrawal seizures –> occurs in pts with a hx of chronic alcohol use who stop their alcohol intake too abruptly
What investigations are used in epilepsy diagnosis?
- EEG (can do prolonged EEG monitoring) –> detects typical epilepsy patterns + supports diagnosis
- MRI brain –> identifies structural pathology (eg. tumours, lesions)
.
Additional tests: - ECG -> rule out cardiac arrhythmias
- Blood glucose –> rule out hypoglycaemia and diabetes
- Serum electrolytes –> electrolyte imbalances can cause seizures
- Blood/urine cultures + lumbar puncture –> if infection suspected (eg. sepsis, encephalitis, meningitis)
What are key safety precautions for patients with epilepsy?
- Driving restrictions –> seizure-free for one year before driving
- Showers instead of baths (drowning risk)
- Caution with swimming, heights, traffic, dangerous equipment
Epilepsy management
How does sodium valproate work?
by increasing the activity of gamma-aminobutyric acid (GABA), which has a calming effect on the brain
What are the key side effects of sodium valproate?
- Teratogenic (harmful in pregnancy) –> can cause neural tube defects and developmental delay
- Liver damage and hepatitis
- Hair loss
- Tremor
- Reduce fertility
What are 2 features of the ‘Valproate Pregnancy Prevention Programme’?
- involves ensuring effective contraception
- annual risk acknowledgement form
What is status epilepticus?
a medical emergency defined as either:
- a seizure lasting more than 5 minutes
- multiple seizures without regaining consciousness in the interim
How is status epilepticus managed?
ABCDE approach:
- secure airway
- give high-concentration oxygen
- check blood glucose
- gain IV access (insert cannula)
What is the first-line medical treatment for status epilepticus?
A benzodiazepine (repeat after 5-10 minutes if seizure continues)
.
Options:
- IV lorazepam (4mg)
- Buccal midazolam (10mg)
- Rectal diazepam (10mg)
What are second-line and third-line options for status epilepticus?
Second-line (after 2 benzodiazepine doses):
- IV levetiracetam
- IV phenytoin
- IV sodium valproate
.
Third-line:
- phenobarbital
- general anaesthesia
What are the risks if epilepsy is not controlled (either the patient isn’t adhering to anti-epileptic medication OR anti-epileptic medication isn’t working)?
In around 30% of patients, seizures may remain refractory to treatment –> these individuals are at increased risk of sudden unexpected death in epilepsy (SUDEP), injuries from falls or accidents during seizures, and psychosocial difficulties
- SUDEP accounts for up to 17% of all deaths in people with epilepsy, and is most common in those with poorly controlled generalised tonic-clonic seizures
What are Psychogenic non-epileptic seizures (PNES)?
PNES = a type of seizure caused by psychological factors (not abnormal electrical activity in the brain)
What are the two main categories of pain?
- Acute pain (new onset)
- Chronic pain (present for ≥ 3 months)
What are the two aspects of the pain experience?
- Sensory (pain perception) - sensory signal transmitted from the pain receptor (“it is a sharp sensation, likely a needle”)
- Affective (emotional response) - unpleasant emotional reaction to the pain (“it is excruitating, I can’t bear it”)
What is pain threshold + give an example of how pain threshold can be measured?
The point at which sensory input is reported as painful
.
- for example, different temperatures can be applied to the skin to measure the point at which the heat is interpreted as pain –> a higher temperature indicates a higher sensory threshold for pain
What is allodynia?
Pain experienced with sensory inputs that do not normally cause pain (e.g. light touch)
How is pain tolerance different from pain threshold?
- The level of pain an individual can endure before it affects their behaviour, influenced by biological, psychological, and social factors.
- eg. two people might experience a similar pain, but one will get on with normal activities and the other will take time off work and seek help etc.
What are the two types of pain fibres and their characteristics?
- C fibres (unmyelinated and small diameter) – transmit signals slowly and produce dull and diffuse pain sensations
- A-delta fibres (myelinated and larger diameter) – transmit signals fast and produce sharp and localised pain sensations
.
(the signal then travels in the CNS, up the spinal cord (mainly spinothalamic and spinoreticular tract) to the brain where it is interpreted as pain, mainly in the thalamus and cortex)
What tracts transmit pain signals in the spinal cord?
Spinothalamic tract and spinoreticular tract
What are the three main sensory inputs that generate pain signals?
- Mechanical (eg. pressure)
- Heat
- Chemical (e.g., prostaglandins)
What is referred pain?
Pain perceived at a location away from the actual site of tissue damage (e.g., left arm pain during a heart attack)
What is neuropathic pain?
Pain caused by abnormal functioning or damage of sensory nerves.
What are the common methods of measuring pain?
- Visual Analogue Scale (VAS) - pain is rated along a horizontal line, and you end up with a numerical value to represent the pain (eg. 75mm along a 100mm line)
- Numerical Rating Scale (NRS) - 0-10 scale (where 0 is no pain at all, and 10 is the worst pain imaginable)
- Graphical Rating Scale - series of faces going from happy to unhappy (helpful in children or learning disabilities)
What are the three steps of the WHO analgesic ladder?
- Step 1: Non-opioid medications –> paracetamol and NSAIDs
- Step 2: Weak opioids –> codeine and tramadol
- Step 3: Strong opioids –> morphine, oxycodone, fentanyl and buprenorphine
What are common adjuvant medications for pain management?
- Antidepressants (e.g., amitriptyline, duloxetine)
- Anticonvulsants (e.g., gabapentin, pregabalin).
What is a common side effect of long-term use of analgesic medication?
Medication overuse headache
What are the key side effects of NSAIDs?
- Gastritis with dyspepsia (indigestion)
- Stomach ulcers
- Exacerbation of asthma
- Hypertension
- Renal impairment
- small cardiovascular risk
What are contraindications for NSAIDs?
- Asthma
- Renal impairment
- Heart disease
- Uncontrolled hypertension
- Stomach ulcers
What medication is often co-prescribed with NSAIDs to reduce the risk of gastrointestinal side effects?
Proton pump inhibitors (eg. omeprazole or lansoprazole)
What are the key side effects of opioids?
- Constipation
- Skin itching (pruritus)
- Nausea
- Altered mental state (sedation, cognitive impairment or confusion)
- Respiratory depression (usually only with larger doses)
What medication is used to reverse opioid overdose?
Naloxone
What is the standard approach for opioid use in palliative care?
- Background opioids (e.g., 12-hourly modified-release oral morphine)
(opioid patches can also be used for background analgesia –> buprenorphine patches, fentanyl patches)
.
- Rescue doses for breakthrough pain (e.g., immediate-release oral morphine solution) - rescue dose is 1/6 of 24hr background dose
How do you calculate a breakthrough dose for a patient on 30mg morphine every 12 hours?
The total 24-hour dose is 60mg, so the breakthrough dose is 10mg
(rescue dose is 1/6 of 24hr background dose)
What are the approximate opioid conversions equivalent to 10mg oral morphine?
What is chronic pain + What are the two categories that NICE separates chronic pain into
Chronic pain = pain that has been present or reoccurs for more than three months
.
- Chronic primary pain – where no underlying condition can adequately explain the pain
- Chronic secondary pain – where an underlying condition can explain the pain (e.g., arthritis)
What are the recommended treatments for chronic primary pain (NICE 2021)?
- Exercise programs
- Acceptance and commitment therapy (ACT)
- Cognitive behavioural therapy (CBT)
- Acupuncture
- Antidepressants (e.g., amitriptyline, duloxetine or an SSRI)
What treatments should NOT be started for chronic primary pain (NICE 2021)?
- Paracetamol
- NSAIDs
- Opiates
- Anti-epileptic drugs (e.g. pregabalin or gabapentin)
.
(essentially avoid all forms of analgesia, except for antidepressants)
What are common causes of neuropathic pain?
- Post-herpetic neuralgia from shingles is in the distribution of a dermatome and usually on the trunk
- Nerve damage from surgery
- Multiple sclerosis
- Diabetic neuralgia (typically affecting the feet)
- Trigeminal neuralgia
- Complex regional pain syndrome
What tool assesses neuropathic pain?
DN4 questionnaire (scored out of 10) –> * ≥ 4 suggests neuropathic pain*
What are first-line treatments for neuropathic pain?
- Amitriptyline – tricyclic antidepressant
- Duloxetine – SNRI antidepressant
- Gabapentin – anticonvulsant
- Pregabalin – anticonvulsant
.
(note: only one neuropathic medication is used at a time, and tramadol may be used only as a short-term rescue for flares)
What is the first-line treatment for trigeminal neuralgia?
Carbamazepine
What is complex regional pain syndrome + what are key features of complex regional pain syndrome?
A condition with neuropathic pain, abnormal sensations, skin changes - often triggered by an injury and isolated to one limb
.
Key features:
- hypersensitivity
- allodynia
- intermittent swelling
- colour/temperature changes
- skin flushing
- abnormal sweating
How is complex regional pain syndrome treated?
Guided by a pain specialist, similar to neuropathic pain management.
What is facial nerve palsy?
Isolated dysfunction of the facial nerve, presenting with unilateral facial weakness
Where does the facial nerve exit the brainstem + What structures does the facial nerve pass through before reaching the face?
- At the cerebellopontine angle
- The temporal bone and the parotid gland.
What are the five branches of the facial nerve?
TZBMC
- Temporal
- Zygomatic
- Buccal
- Marginal mandibular
- Cervical
What are the motor functions of the facial nerve?
- Facial expression
- Stapedius muscle in the inner ear
- Posterior digastric, stylohyoid, and platysma muscles
What is the sensory function of the facial nerve?
taste from the anterior 2/3 of the tongue
What parasympathetic functions does the facial nerve provide?
- Submandibular and sublingual salivary glands
- Lacrimal gland (stimulating tear production)
What are causes of unilateral UMN facial nerve palsy?
- Stroke (CVA)
- Brain tumours
What is Bell’s palsy?
An idiopathic unilateral LMN facial nerve palsy that fully recovers over several weeks
(1/3 are left with residual weakness)
What is the recommended treatment for Bell’s palsy within 72 hours of onset (NICE 2023)?
Prednisolone:
- 50mg for 10 days
OR - 60mg for 5 days, followed by a 5-day taper (reducing by 10mg/day)
Why do Bell’s palsy patients require eye drops + what should patients do to protect their eye at night?
- To prevent exposure keratopathy due to incomplete eyelid closure
- Tape the eye closed
What causes Ramsay-Hunt syndrome?
Reactivation of the varicella-zoster virus (VZV)
What are key features of Ramsay-Hunt syndrome?
- Unilateral LMN facial nerve palsy
- Painful vesicular rash in the ear canal, pinna, or around the ear (can extend to the anterior 2/3 of the tongue and hard palate)
(look for a facial nerve palsy + vesicular rash near the ear)
How is Ramsay-Hunt syndrome treated?
- Aciclovir
- Prednisolone
- Lubricating eye drops
How do brain tumours present?
- They may be asymptomatic when small but cause progressive focal neurological symptoms as they grow
- often present with symptoms/signs of raised intracranial pressure (intracranial hypertension) - a growing tumour takes up room within the skull, leaving less space for the other contents (such as CSF), causing a rise in pressure within the intracranial space
A common exam scenario is an unusual change in personality and behaviour, where in the brain is the tumour?
Frontal lobe tumour –> frontal lobe is responsible for personality and higher level decision-making
What symptoms suggest raised intracranial pressure (intracranial hypertension)?
- Constant headache (worse at night/on waking) + worse on coughing, straining, or bending forward
- Vomiting
- Papilloedema
- Altered mental state
- Visual field defects
- Seizures (partial)
- unilateral ptosis
- 3rd and 6th cranial nerve palsies
What is papilloedema + what causes of papilloedema
- Swelling of the optic disc due to raised intracranial pressure, seen on fundoscopy
- the sheath around the optic nerve is connected with the subarchnoid space, the raised CSF pressure flows into the optic nerve sheath, increasing the pressure around the optic nerve behind the optic disc causing the optic disc to bulge forward
How are gliomas (tumours of glial cells in the brain or spinal cord) graded?
Gliomas are graded from 1 to 4:
- Grade 1 is the most benign (possibly curable with surgery)
- Grade 4 is the most malignant (e.g., glioblastoma multiforme).
What are the three main types of gliomas?
- Astrocytoma (most aggressive = glioblastoma)
- Oligodendroglioma
- Ependymoma
What are meningiomas?
Usually benign tumours of the meninges, but they cause mass effect which can lead to raised ICP and neurological symptoms
Which cancers most commonly metastasise to the brain?
- Lung
- Breast
- Renal cell carcinoma
- Melanoma
How do pituitary tumours present?
- Bitemporal hemianopia (pituitary sits close to optic chiasm)
- Hormone excess (e.g., acromegaly, Cushing’s disease, hyperprolactinaemia, thyrotoxicosis), or hormone deficiency
How can pituitary tumours be managed?
- Trans-sphenoidal surgery (through the nose and sphenoid bone)
- Radiotherapy
- Bromocriptine to block excess prolactin
- Somatostatin analogues (e.g., octreotide) to block excess growth hormone
What is an acoustic neuroma (vestibular schwannoma)?
benign tumour of the Schwann cells that surround the auditory nerve (vestibulocochlear nerve), at the cerebellopontine angle
What condition are bilateral acoustic neuromas associated with?
Neurofibromatosis type 2
How do acoustic neuromas (vestibular schwannomas) present?
- Unilateral sensorineural hearing loss (often the first symptom)
- Unilateral tinnitus
- Dizziness or imbalance
- Sensation of fullness in the ear
- Facial nerve palsy (if the tumour grows large enough to compress the facial nerve)
What is the first-line investigation for a brain tumour?
MRI scan
(biopsy gives definitive histological diagnosis - usually obtained during surgery)
What are the main management options for a brain tumour?
Depends on type and grade and is guided by the MDT:
- Surgery (partial or total removal)
- Chemotherapy
- Radiotherapy (to reduce the growth)
- Palliative care
.
(biopsy gives the definitive histological diagnosis –> this is usually obtained during surgery)
What is Huntington’s disease?
An autosomal dominant genetic disorder causing progressive neurological dysfunction
What genetic mutation causes Huntington’s disease?
A trinucleotide repeat disorder involvig a genetic mutation in the HTT gene on chromosome 4, which codes for the huntingtin (HTT) protein
What are nucleotides and what are trinucleotide repeats?
- Nucleotides are the building blocks of DNA (adenine, cytosine, guanine and thymine)
- Sequences of three nucleotides repeated multiple times in DNA (e.g., CAGCAGCAGCAGCAG)
Other than Huntington’s disease, what are other examples of trinucleotide repeat disorders?
- Fragile X syndrome
- Spinocerebellar ataxia
- Myotonic dystrophy
- Friedrich ataxia
What is genetic anticipation and what neurological condition displays genetic anticipation?
Anticipation is a feature of trinucleotide repeat disorders, where successive generations have more repeats in the gene, resulting in:
- Earlier age of onset
- Increased severity of disease
.
Huntington’s chorea displays genetic anticipation
What are the key symptoms of Huntington’s chorea?
Presents with an insidious, progressive worsening of symptoms:
- Cognitive decline
- Psychiatric symptoms
- Chorea (involuntary, irregular body movements)
- Dystonia (abnormal muscle tone leading to abnormal postures)
- Rigidity (increased resistance to passive movement of a joint)
- Eye movement disorders
- Dysarthria (speech difficulties)
- Dysphagia (swallowing difficulties)
How is Huntington’s disease diagnosed?
Genetic testing at a specialist centre with pre and post-test counselling
What is the management approach in Huntington’s disease?
There are no treatment options for slowing or stopping the progression of the disease.
.
Management involves:
- MDT
- physiotherapy
- speech therapy
- Tetrabenazine may be used for chorea symptoms
- Antidepressants (eg. SSRIs) for depression
- Advanced directives
- End-of-life care
(Genetic counseling is important too)
What % chance does the child of someone with Huntington’s disease have of inheriting the faulty gene?
50% –> autosomal dominant
In Huntington’s disease, what is the life expectancy after the onset of symptoms?
10-20 years
What is a common cause of death in patients with Huntington’s disease?
Aspiration pneumonia or suicide
What is myasthenia gravis?
An autoimmune condition affecting the neuromuscular junction, causing muscle weakness that worsens with activity and improves with rest
At what ages does myasthenia gravis typically affect men and women?
Women under 40, men over 60
What is myasthenia gravis associated with?
- Thymomas (thymus gland tumours)
- 10-20% of patients with myasthenia gravis have a thymoma, and 30% of thymoma patients develop myasthenia gravis
What antibodies are most commonly involved in myasthenia gravis?
Acetylcholine receptor (AChR) antibodies
What is the mechanism of myasthenia gravis?
- Acetylcholine receptor (AChR) antibodies bind to the postsynaptic acetylcholine receptors, blocking them and preventing stimulation by acetylcholine
- the more the receptors are used during muscle activity, the more they become blocked
- with rest, the receptors are cleared, and the symptoms improve
- (these antibodies also activate the complement system within the NMJ, leading to cell damage at the postsynaptic membrane, further worsening symptoms)
. - axons release a neurotransmitter called acetylcholine from the presynaptic membrane, which then travels across the synapse and attaches to receptors on the postsynaptic membrane, stimulating muscle contraction
Other than acetylcholine (AChR) receptor antibodies, what other antibodies can cause myasthenia gravis?
- Muscle-specific kinase (MuSK) antibodies
- Low-density lipoprotein receptor-related protein 4 (LRP4) antibodies
.
(MuSK and LRP4 are important proteins for the creation and organisation of the acetylcholine receptor –> destruction of these proteins leads to inadequate acetylcholine receptors)
What is a key feature of myasthenia gravis + what are some other symptoms that are common in myasthenia gravis?
- Weakness that worsens with use and improves with rest
.
Symptoms most affect the proximal muscles and the small muscles of the head and neck: - Difficulty climbing stairs, standing from a seat or raising their hands above their head
- Diplopia –> weakness of extraocular muscles
- Ptosis –> eyelid weakness
- Weakness in facial movements
- Dysphagia (difficulty swallowing)
- Fatigue in jaw when chewing
- Slurred speech
What are 3 ways to elicit fatiguability in the muscles to assess for myasthenia gravis
- Repeated blinking will exacerbate ptosis
- Prolonged upward gazing will exacerbate diplopia on further testing
- Repeated abduction of one arm 20 times will result in unilateral weakness when comparing both sides
What antibodies are tested for in myasthenia gravis?
- AChR antibodies (85%)
- MuSK antibodies (<10%)
- LRP4 antibodies (<5%)
What imaging is used to check for a thymoma (in patients with myasthenia gravis)?
CT or MRI of the thymus
What is the edrophonium test (used when there is doubt about a diagnosis of myasthenia gravis)?
- Pts are given IV edrophonium chloride (or neostigmine) - a short-acting acetylcholinesterase inhibitor
- Normally, cholinesterase enzymes in the NMJ break down acetylcholine
- Edrophonium blocks these enzymes, reducing the breakdown of acetylcholine
- as a result, the level of acetylcholine at the NMJ rises, temporarily relieving the weakness
- a positive result suggest a diagnosis of myasthenia gravis
What are the treatment options for myasthenia gravis?
- Pyridostigmine - a cholinesterase inhibitor that prolongs the action of acetylcholine and improves symptoms
- Immunosuppression (e.g., prednisolone or azathioprine) - suppresses the production of antibodies
. - Thymectomy can improve symptoms, even in patients without a thymoma
- Rituximab (a monoclonal antibody against B cells) is considered where other treatments fail
What is a myasthenic crisis?
- an acute worsening of symptoms in a patient with myasthenia gravis, often triggered by another illness (such as a respiratory tract infection)
- respiratory muscle weakness can lead to respiratory failure
How is myasthenic crisis managed?
- patients may require NIV or mechanical ventilation for respiratory failure
- IV immunoglobulins and plasmapheresis
What is Lambert-Eaton myasthenic syndrome (LEMS)?
an autoimmune condition affecting the neuromuscular junction, often associated with small-cell lung cancer (SCLC)
How does LEMS differ from myasthenia gravis in presentation?
- LEMS symptoms tend to be more insidious and less pronounced
- Muscle strength and reflexes improve with activity, whereas in myasthenia gravis, symptoms worsen with use
What is the usual cause of Lambert-Eaton myasthenic syndrome?
usually a paraneoplastic syndrome associated with small-cell lung cancer (SCLC), but it can also occur as a primary autoimmune disorder without malignancy
What is the pathophysiology of Lambert-Eaton myasthenic syndrome?
- caused by antibodies against voltage-gated calcium channels in the presynaptic membrane of the NMJ
- leading to reduced acetylcholine release into the synapse, resulting in a weaker signal and reduced muscle contraction
.
(these antibodies may be produced in response to small cell lung cancer cells that express voltage-gated calcium channels)
(voltage-gated calcium channels are responsible for assisting the release of acetylcholine into the synapse of the NMJ)
What are the key symptoms of Lambert-Eaton myasthenic syndrome (LEMS)?
- Proximal muscle weakness –> causing difficulty climbing stairs, standing from a seat, or raising the arms overhead
- Autonomic dysfunction –> causing dry mouth, blurred vision, impotence and dizziness
- Reduced or absent tendon reflexes
How do symptoms of Lambert-Eaton myasthenic syndrome (LEMS) change with activity?
Muscle strength and reflexes improve after periods of muscle contraction, unlike myasthenia gravis, where symptoms worsen with use
How is Lambert-Eaton myasthenic syndrome (LEMS) managed?
- Screen for underlying malignancy (small cell lung cancer)
- Amifampridine - blocks voltage-gated potassium channels in the presynaptic membrane, which prolongs depolarisation and assists calcium channels in carrying out their action
.
Other options: - Pyridostigmine (cholinesterase inhibitor)
- Immunosuppressants (e.g. prednisolone or azathioprine)
- IV immunoglobulins
- Plasmapheresis
What is Charcot-Marie-Tooth disease?
An inherited disease affecting peripheral motor and sensory neurons, also called hereditary motor and sensory neuropathy
What is the inheritance pattern of most Charcot-Marie-Tooth mutations?
Autosomal dominant
At what age do symptoms of Charcot-Marie-Tooth usually appear?
Usually before age 10 but can be delayed until 40 or later
What are the key clinical features of Charcot-Marie-Tooth disease?
- High foot arches (pes cavus)
- Distal muscle wasting –> causing “inverted champagne bottle legs”
- Lower leg weakness (particularly loss of ankle dorsiflexion) –> high stepping gait due to foot drop
- Weakness in the hands
- Reduced tendon reflexes
- Reduced muscle tone
- Peripheral sensory loss
What is peripheral neuropathy?
Reduced sensory and motor function in the peripheral nerves, often in a “glove and stocking” distribution
What mnemonic can be used to remember other causes of peripheral neuropathy?
ABCDE mnemonic:
- A – Alcohol
- B – B12 deficiency
- C – Cancer (e.g., myeloma) and Chronic kidney disease
- D – Diabetes and Drugs (e.g., isoniazid, amiodarone, leflunomide, cisplatin)
- E – Every vasculitis
Why is Charcot-Marie-Tooth a common OSCE scenario?
It is a relatively common condition with clear signs and stable patients, making it useful for examining peripheral neuropathy
Is there a cure for Charcot-Marie-Tooth disease?
No, treatment is supportive
What specialists are involved in the management of Charcot-Marie-Tooth?
- Neurologists and geneticists –> to make the diagnosis
- Physiotherapists –> to maintain muscle strength and joint range of motion
- Occupational therapists –> to assist with daily activities
- Podiatrists –> to help with foot symptoms and suggest insoles and other orthoses to improve symptoms
- Orthopaedic surgeons –> for severe joint deformities
What medication can be used for neuropathic pain in Charcot-Marie-Tooth?
Amitriptyline
What is Guillain-Barré syndrome?
An acute paralytic polyneuropathy affecting the peripheral nervous system, causing acute, symmetrical, ascending weakness +/- sensory symptoms
What typically triggers Guillain-Barré syndrome?
An infection, particularly Campylobacter jejuni, cytomegalovirus (CMV), and Epstein-Barr virus (EBV).
What is the underlying mechanism of Guillain-Barré syndrome?
- Molecular mimicry –> B cells produce antibodies against the antigens on the triggering pathogen, which mistakenly attack proteins on peripheral neurons
- (the antibodies produced also match proteins on the peripheral neurones)
What parts of the neuron can be affected in Guillain-Barré syndrome?
The myelin sheath or the axon itself
When do symptoms of Guillain-Barré syndrome typically start?
Within four weeks of the triggering infection
How does the weakness in Guillain-Barré syndrome progress?
- Symmetrical, ascending weakness, starting in the feet and moving upwards
- symptoms peak within 2-4 weeks, then there is a recovery period that can last months to years
What are the key neurological features of Guillain-Barré syndrome + what additional complications can occur in Guillain-Barre syndrome?
- Symmetrical ascending weakness
- Reduced reflexes
- Peripheral sensory loss or neuropathic pain
.
Additional complications: - Cranial nerve involvement –> facial weakness
- Autonomic dysfunction –> urinary retention, ileus, arrhythmias
How is Guillain-Barré syndrome diagnosed + what 2 investigations support the diagnosis of Guillain-Barre syndrome?
Diagnosis is made clinically using the Brighton criteria, supported by investigations
.
- Nerve conduction studies - show reduced signal
- Lumbar puncture (CSF analysis) –> shows raised protein with normal cell count and glucose
What is the first-line treatment for Guillain-Barre syndrome + what is an alternative treatment?
- 1st-line –> IV immunoglobulins (IVIG)
- Alternative –> Plasmapheresis (plasma exchange)
What supportive measures are important in Guillain-Barré syndrome?
- VTE prophylaxis (pulmonary embolism is a leading cause of death)
- Intensive care support in severe cases (intubation and ventilation if respiratory failure occurs)
How long does recovery from Guillain-Barré syndrome typically take + what are the possible long-term outcomes?
Months to years, with some patients continuing to regain function up to five years after the acute illness
.
- most patients either make a full recovery or are left with minor symptoms
- some are left with significant disability
- mortality is around 5% –> usually ue to respiratory or cardiovascular complications
What is neurofibromatosis?
A genetic condition causing benign nerve tumours (neuromas) throughout the nervous system, these tumours can cause neurological and structural problems
Which type of neurofibromatosis is more common?
Neurofibromatosis type 1 (NF1) is more common than Neurofibromatosis type 2 (NF2)
What gene is affected in neurofibromatosis type 1 (NF1), and what does it code for?
NF1 gene on chromosome 17, coding for neurofibromin, which is a tumour suppressor protein
What is the inheritance pattern of neurofibromatosis type 1 (NF1)?
Autosomal dominant
The diagnostic criteria for neurofibromatosis type 1 are based on the features, what is the mnemonic for the features of NF1?
“CRABBING”:
- C – Café-au-lait spots (>15mm is significant in adults)
- R – Relative with NF1
- A – Axillary or inguinal freckling
- BB – Bony dysplasia, such as Bowing of a long bone (or sphenoid wing dysplasia)
- I – Iris hamartomas (Lisch nodules – yellow-brown spots on the iris)
- N – Neurofibromas (skin-coloured raised nodules)
- G – Glioma of the optic pathway
.
(genetic testing also supports a diagnosis of NF1)
What is a plexiform neurofibroma, and why is it significant?
A large, irregular neurofibroma containing multiple cell types –> a single plexiform neurofibroma is significant for NF1
What is the treatment for NF1?
No cure – management involves monitoring, symptom control, and treating complications
What are key complications of NF1?
- Neurological – Migraines, epilepsy, learning disability, behavioural problems (e.g., ADHD)
- Cardiovascular – Renal artery stenosis, causing hypertension
- Musculoskeletal – Scoliosis
- Ophthalmology – Optic gliomas, leading to vision loss
- Oncology – Malignant peripheral nerve sheath tumours (MPNST), gastrointestinal stromal tumours (GIST), brain and spinal cord tumours, increased cancer risk (breast cancer, leukaemia)
What two unique tumours are strongly associated with NF1?
Malignant peripheral nerve sheath tumours (MPNST) and gastrointestinal stromal tumours (GIST)
What gene is affected in NF2, and what does it code for?
NF2 gene on chromosome 22, coding for merlin, which is a tumour suppressor protein in Schwann cells
What is the inheritance pattern of NF2?
Autosomal dominant
What type of tumours are most strongly associated with NF2?
Schwannomas (benign tumours of Schwann cells), particularly bilateral acoustic neuromas
What nerve is affected by acoustic neuromas in NF2?
The auditory nerve (vestibulocochlear nerve, CN VIII), leading to hearing loss and balance issues
What is the main treatment option for NF2?
Surgical resection of tumours, though this carries a risk of permanent nerve damage
What exam clue suggests NF2?
Bilateral acoustic neuromas are almost always due to NF2
What are key red flags associated with headaches?
- Fever, photophobia, or neck stiffness –> meningitis, encephalitis, or brain abscesses
- Raised ICP signs –> worse on coughing/straining, worse on standing/lying/bending over, vomiting
- Visual disturbance –> GCA, glaucoma, or tumours
- New neurological symptoms –> haemorrhage, tumours
- sudden-onset occipital headache –> subarachnoid haemorrhage
- Hx of trauma –> intracranial haemorrhage
- Hx of cancer –> brain metastases
- Pregnancy –> preeclampsia
Why is fundoscopy important in headaches?
To check for papilloedema, which suggests raised ICP due to a brain tumour, idiopathic intracranial hypertension, or an intracranial bleed
What are the typical features of a tension headache?
- Mild ache or pressure
- Band-like pattern around the head
- Gradual onset and resolution
- No visual changes
What are common triggers for tension headaches?
- Stress
- Depression
- Alcohol
- Skipping meals
- Dehydration
What is defined as a chronic tension-type headache?
occurring on more than 15 days per month for at least 3 months
How are tension headaches managed?
- Reassurance
- Simple analgesia (e.g., ibuprofen, paracetamol)
- Amitriptyline (first-line for chronic/frequent cases)
What are key features of a sinusitis headache?
- Facial pain and pressure
- Follows a recent viral URTI
- Tenderness/swelling over affected sinuses
(due to inflammation of paranasal sinuses)
How is sinusitis managed?
- Usually self-limiting (caused by an URTI and resolves in 2–3 weeks)
- > 10 days duration –> Steroid nasal spray or phenoxymethylpenicillin
What is the key management step for medication-overuse headaches?
Withdraw analgesia, though this can be difficult in patients with chronic pain
What causes hormonal headaches?
Low oestrogen levels
- features are similar to migraines
When do hormonal headaches commonly occur?
- 2 days before to 3 days into menstruation
- Perimenopausal period
- Early pregnancy (headaches in second half of pregnancy should be investigated for pre-eclampsia)
What are treatment options for hormonal headaches?
Triptans and NSAIDs (e.g., mefenamic acid)
What is cervical spondylosis?
Degenerative changes in the cervical spine, causing neck pain and headaches
- pain is worse with movement
What is trigeminal neuralgia?
Intense facial pain in the distribution of the trigeminal nerve (CN V)
What are the three branches of the trigeminal nerve?
- Ophthalmic (V1)
- Maxillary (V2)
- Mandibular (V3)
What are the characteristics of trigeminal neuralgia pain?
- Sudden onset, lasting seconds to hours
- Electric-shock, shooting, stabbing, or burning pain
- Triggered by touch, talking, eating, shaving, or cold
- Unilateral in > 90% of cases
What condition is trigeminal neuralgia associated with?
Multiple sclerosis (MS)
What is the first-line treatment for trigeminal neuralgia?
Carbamazepine
Who is most affected by migraines?
More common in women, and most prevalent in teenagers and young adults
What are the four main types of migraine?
- Migraine without aura
- Migraine with aura
- Silent migraine (migraine with aura but without a headache)
- Hemiplegic migraine
What are the five stages of a migraine?
- Premonitory/prodromal stage (can begin several days before the headache) –> yawning, fatigue, mood change
- Aura (lasting up to 60 minutes) –> visual/sensory/language changes
- Headache stage (lasts 4 to 72 hours) –> throbbing pain, photophobia, nausea
- Resolution stage (gradual fade or relieved by vomiting/sleep)
- Postdromal or recovery phase
.
(these stages vary between patients, some patients may only experience one or two of the stages)
What are the key features of migraine headaches?
- Unilateral (rarely bilateral)
- Moderate-severe intensity
- Pounding/throbbing pain
- Photophobia, phonophobia, osmophobia
- Aura (visual changes)
- Nausea & vomiting
What are the most common symptoms of migraine aura?
- Visual symptoms –> sparks, blurred vision, lines, loss of visual fields (eg. scotoma)
- Sensory symptoms –> tingling, numbness
- Language symptoms –> dysphasia
What is the defining feature of a hemiplegic migraine + what are other symptoms that can occur in hemiplegic migraine?
- Unilateral limb weakness (hemiplegia)
. - Other symptoms –> ataxia, impaired consciousness
What is familial hemiplegic migraine?
An autosomal dominant genetic condition where hemiplegic migraines run in families
What condition is important to rule out/exclude in hemiplegic migraine?
Hemiplegic migraines mimic stroke or TIA, requiring urgent assessment
What are common migraine triggers?
- Stress
- Bright lights
- Strong smells
- Certain foods (e.g., chocolate, cheese and caffeine)
- Dehydration
- Menstruation
- Disrupted sleep
- Trauma
What are general measures for migraine attacks?
Rest in a dark, quiet room and sleep
What are the medical options for acute migraine attacks?
- NSAIDs (e.g., ibuprofen, naproxen)
- Paracetamol
- Triptans (e.g., sumatriptan)
- Antiemetics if nausea/vomiting (e.g., metoclopramide, prochlorperazine)
Why are opiates avoided in migraine treatment?
They can worsen migraines and lead to medication-overuse headaches
How do triptans work?
- 5-HT receptor agonists - they bind to and stimulate serotonin receptors (specifically 5-HT1B and 5-HT1D)
MOA:
1. cranial vasoconstriction
2. inhibiting the transmission of pain signals
3. inhibiting the release of inflammatory neuropeptides
When should triptans be taken for an acute migraine attack + what should be done if a triptan does not work for an attack?
- As soon as the headache starts (not during aura)
- Do not take a second dose for the same attack
What are contraindications to triptan use?
- Hypertension
- Coronary artery disease
- Previous stroke, TIA, or MI
What is the purpose of a headache diary?
Helps identify triggers and assess treatment response
What are first-line medications for migraine prophylaxis?
- Propranolol (non-selective beta-blocker)
- Amitriptyline (tricyclic antidepressant)
- Topiramate (teratogenic –> contraception needed)
What lifestyle-based options are suggested for prophylaxis of migraines?
- Cognitive behavioural therapy
- Mindfulness and meditation
- Acupuncture
- Vitamin B2 (riboflavin)
What prophylactic options are available for menstrual migraines?
Prophylactic triptans (e.g., frovatriptan, zolmitriptan) taken from 2 days before to 3 days after menstruation
How does migraine impact stroke risk?
Slightly increased stroke risk, especially with aura
Why is the combined contraceptive pill contraindicated in migraine with aura?
It further increases stroke risk and is contraindicated
What are cluster headaches?
Severe, unilateral headaches centred around the eye, occurring in clusters of attacks
Why are cluster headaches called “cluster” headaches?
Attacks come in clusters, occurring multiple times a day for weeks or months, followed by pain-free periods lasting months or years
How long do cluster headache attacks last?
Between 15 minutes and 3 hours
What is the typical patient profile for cluster headaches?
- 30–50-year-old male
- Smoker
- Possible triggers: alcohol, strong smells, exercise
How severe is the pain in cluster headaches?
Extremely severe – sometimes called “suicide headaches” due to intensity
What are the typical unilateral symptoms associated with cluster headaches?
- Red, swollen, and watering eye
- Miosis (pupil constriction)
- Ptosis (eyelid drooping)
- Nasal discharge
- Facial sweating
What are the first-line treatments for an acute cluster headache attack?
- Subcutaneous or intranasal sumatriptan
- High-flow 100% oxygen (may be kept at home)
What is the first-line prophylactic treatment for cluster headaches + what are some other prophylactic options for cluster headaches?
- 1st-line –> Verapamil
.
Other prophylactic options: - Occipital nerve block
- Prednisolone (e.g., a short course to break the cycle during clusters)
- Lithium
What is encephalitis?
Inflammation of the brain, caused by infective or non-infective (autoimmune) mechanisms
What is the most common cause of encephalitis?
Viral infection, particularly herpes simplex virus (HSV)
What are the common viral causes of encephalitis? (include in children and neonates
- In children –> HSV-1 from cold sores
- In neonates –> HSV-2 from genital herpes (contracted during birth)
.
Other viral causes include: - Varicella zoster virus (VZV) – associated with chickenpox
- Cytomegalovirus (CMV) – associated with immunodeficiency
- Epstein-Barr virus (infectious mononucleosis), enterovirus, adenovirus, and influenza virus
- Polio, mumps, rubella, measles viruses - ask about vaccination history
What are the key symptoms of encephalitis?
- Altered consciousness
- Altered cognition
- Unusual behaviour
- Acute onset of focal neurological symptoms
- Acute onset of focal seizures
- Fever
What key investigations are needed for encephalitis?
- Lumbar puncture – CSF for viral PCR testing
- CT scan – if lumbar puncture is contraindicated
- MRI scan – for detailed brain imaging
- EEG – helpful in mild or ambiguous cases
- Swabs – throat or vesicle swabs to identify causative organism
- HIV testing – recommended for all encephalitis cases
When is a lumbar puncture contraindicated?
- GCS <9
- Haemodynamically unstable
- Active seizures or post-ictal state
What is the first-line antiviral for suspected encephalitis?
IV Aciclovir (treats HSV and VZV)
What antiviral is used for cytomegalovirus (CMV) encephalitis?
Ganciclovir
Why is a repeat lumbar puncture performed in the management of encephalitis?
To ensure successful treatment before stopping antivirals
What is the treatment for non-HSV viral encephalitis?
Supportive management (no specific antiviral)
What are potential long-term complications of encephalitis?
- Fatigue and prolonged recovery
- Personality & mood changes
- Memory & cognition issues
- Learning disability
- Headaches & chronic pain
- Movement disorders & sensory disturbance
- Seizures
- Hormonal imbalances
What is meningitis?
Inflammation of the meninges, usually due to infection
What is contained within the meninges (in the subarachnoid space)?
Cerebrospinal fluid (CSF)
What are the main bacterial causes of meningitis?
- Neisseria meningitidis (meningococcus)
- Streptococcus pneumoniae (pneumococcus)
- Haemophilus influenzae
. - In neonates –> Group B streptococcus, Listeria monocytogenes
What is meningococcal meningitis and what is meningococcal septicaemia?
- Infection of the meninges & CSF by Neisseria meningitidis
. - Neisseria meningitidis infection in the bloodstream, causing a non-blanching rash
What type of bacteria is Neisseria meningitides?
gram-negative diplococcus (meningococcus)
What are the most common viral causes of meningitis?
- Enteroviruses (e.g., coxsackievirus)
- Herpes simplex virus (HSV)
- Varicella zoster virus (VZV)
How is viral meningitis diagnosed?
Viral PCR testing on CSF sample
What is the treatment for HSV & VZV meningitis?
IV Aciclovir
What are the typical symptoms of meningitis?
- Fever
- Neck stiffness
- Vomiting
- Headache
- Photophobia
- Altered consciousness
- Seizures
What is a key sign of meningococcal septicaemia?
Non-blanching rash
(other causes of bacterial meningitis do no cause this rash)
How can neonates and babies present with meningitis?
- Non-specific symptoms
- Hypotonia
- Poor feeding
-Lethargy - Hypothermia
- Bulging fontanelle
What is Kernig’s test?
(used to look for meningeal irritation - it causes a stretch in the meninges)
.
Hip & knee flexed to 90° → then extend knee → pain or resistance = positive test (indicating meningeal irritation)
What is Brudzinski’s test?
(used to look for meningeal irritation - it causes a stretch in the meninges)
.
Flex the neck → involuntary hip & knee flexion = positive test (indicating meningeal irritation)
Where is a lumbar puncture performed?
Lower back –> at L3/L4 or L4/L5 intervertebral space (below the spinal cord at L1-L2)
What tests are performed on CSF?
- Bacterial culture
- Viral PCR
- Cell count
- Protein
- Glucose
What blood test is needed alongside CSF glucose?
Blood glucose for comparison
CSF findings in meningitis
think about it –> bacteria swimming in the CSF will release proteins and use up glucose
What is the first-line emergency antibiotic for suspected meningococcal meningitis in primary care?
IM or IV Benzylpenicillin
.
Doses:
- Under 1 year – 300mg
- 1-9 years – 600mg
- Over 10 years – 1200mg
What should be performed before starting antibiotics in hospital?
Blood cultures & lumbar puncture (if stable)
What is the first-line empirical antibiotic for bacterial meningitis?
(under 3 months and over 3 months)
- Under 3 months: Cefotaxime + Amoxicillin (Amoxicillin covers Listeria)
- Above 3 months: Ceftriaxone
What should be included in blood tests if meningococcus is suspected?
meningococcal PCR –> tests for meningococcal DNA (will still be positive after bacteria has been treated with antibiotics)
In the management of bacterial meningitis, when should Aciclovir be added?
If HSV meningitis is suspected
In the management of bacterial meningitis, when should Vancomycin be added?
If there is risk of penicillin-resistant pneumococcus (e.g., recent travel or prolonged antibiotic use)
In the management of bacterial meningitis, what medication is used to prevent complications such as hearing loss and neurological problems)?
Dexamethasone
- reduces inflammation and brain swelling
- reduces inflammation in cochlear
Who should be notified about bacterial meningitis?
UK Health Security Agency (notifiable disease)
Regarding meningococcal infection, who requires post-exposure prophylaxis + what is the first-line prophylactic antibiotic?
- Close contacts with prolonged exposure in the 7 days before symptom onset
. - Single dose of Ciprofloxacin
What are the potential long-term complications of meningitis?
- Hearing loss , SNHL due to cochlear damage (key complication)
- Seizures & epilepsy
- Cognitive impairment & learning disabilities
- Memory loss
- Focal neurological deficits (e.g., limb weakness, spasticity)
What are the common causes of brain abscesses?
- Extension of sepsis (middle ear, sinuses)
- Trauma or surgery to the scalp
- Penetrating head injuries
- Embolic events from endocarditis
What are the key symptoms of a brain abscess?
Smyptoms depend on site of the abscess, abscesses have a considerable mass effect in the brain and raised ICP is common:
- Headache (dull, persistent)
- Fever (may be absent, not typically swinging pyrexia)
- Focal neurology (depends on location, e.g., oculomotor or abducens nerve palsy secondary to raised ICP)
- Signs of raised ICP (nausea, papilloedema, seizures)
What is the key investigation for diagnosing a brain abscess?
CT brain scan (used for assessment and diagnosis) OR MRI brain
.
(image shows an MRI brain showing ring-enhancing lesion in the right frontal lobe with surrounding oedema)
What are the key management steps for a brain abscess?
- Surgery – Craniotomy to debride the abscess cavity
- IV Antibiotics – 3rd-generation cephalosporin + metronidazole
- Intracranial pressure management – Dexamethasone
Why does increased volume in the brain lead to raised ICP?
The skull is rigid and cannot expand, so additional volume (e.g., haematoma, tumour, excessive CSF) increases intracranial pressure (ICP)
What is the normal ICP in adults in the supine position + what is cerebral perfusion pressure (CPP), and how is it calculated?
- 7-15 mmHg
.
CPP is the net pressure gradient causing cerebral blood flow: - CPP = Mean Arterial Pressure (MAP) - ICP
What are the some causes of raised ICP?
- Idiopathic intracranial hypertension (IIH)
- Traumatic head injuries
- Infections (e.g. meningitis)
- Tumours
- Hydrocephalus
What are the key features of raised ICP + what feature/triad indicates severe raised ICP and impending brain herniation?
- Headache (worse on coughing/straining/bending down/lying down/on waking)
- Vomiting
- Reduced level of consciousness
- Papilloedema
.
Cushing’s triad: - widening pulse pressure
- bradycardia
- irregular breathing
What are the key investigations for raised ICP?
- Neuroimaging (CT/MRI) – to identify the underlying cause
- Invasive ICP monitoring – catheter in lateral ventricles to measure pressure
What ICP level is often used as a threshold for intervention?
ICP > 20 mmHg
What are the key management steps for raised ICP?
- Treat the underlying cause
- Head elevation to 30º
- IV mannitol (osmotic diuretic)
- Controlled hyperventilation (reduces pCO2 → vasoconstriction → reduced ICP)
.
CSF removal via: - Intraventricular drain
- Repeated lumbar punctures (e.g. for IIH)
- Ventriculoperitoneal shunt (for hydrocephalus)
What is idiopathic intracranial hypertension (IIH)?
A condition of raised intracranial pressure (ICP) without an obvious cause, also known as pseudotumour cerebri
- classically seen in young, overweight females
What are the major risk factors for IIH?
- Obesity
- Female sex
- Pregnancy
.
Drugs: - COCP
- steroids
- tetracyclines
- Retinoids (isotretinoin, tretinoin) / Vitamin A
- lithium
What are the key symptoms of IIH?
- Headache
- Blurred vision
- Papilloedema (usually present)
- Enlarged blind spot
- Sixth nerve palsy (may be present)
What are the main treatment options for IIH?
- Weight loss – Diet, exercise, and medications (e.g., semaglutide, topiramate)
- Carbonic anhydrase inhibitors – Acetazolamide (reduces CSF production)
- Topiramate – Used for weight loss and as a carbonic anhydrase inhibitor
- Repeated lumbar punctures – Temporary measure
- Surgical options:
- Optic nerve sheath decompression/fenestration (to prevent damage to optic nerve)
- Lumboperitoneal or ventriculoperitoneal shunt (to reduce ICP)
What motor neurons are affected in amyotrophic lateral sclerosis (ALS)?
Both upper motor neurons (corticospinal tracts) and lower motor neurons
What are the key clinical signs of ALS?
Combination of upper motor neuron (UMN) signs (spasticity, hyperreflexia) and lower motor neuron (LMN) signs (muscle wasting, fasciculations)
Which part of the spinal cord is affected in poliomyelitis?
Anterior horns, leading to lower motor neuron signs
What are the affected spinal tracts in Brown-Séquard syndrome + clinical features associated?
Brown-Séquard Syndrome (spinal cord hemisection)
.
1. Lateral corticospinal tract –> Ipsilateral spastic paresis below the lesion
- Dorsal columns –> Ipsilateral loss of proprioception & vibration sensation
- Lateral spinothalamic tract –> Contralateral loss of pain & temperature sensation
What is the cause of subacute combined degeneration of the spinal cord?
Vitamin B12 and E deficiency
What are the affected spinal tracts in Subacute combined degeneration of the spinal cord + clinical features associated?
- Lateral corticospinal tracts –> Bilateral spastic paresis
- Dorsal columns –> Bilateral loss of proprioception and vibration sensation
- Spinocerebellar tracts –> Bilateral limb ataxia
How does Friedreich’s ataxia present compared to subacute combined degeneration?
Same spinal tracts affected, but also includes cerebellar ataxia (e.g. intention tremor)
What are the affected spinal tracts in anterior spinal artery occlusion + clinical features associated?
- Lateral corticospinal tracts –> Bilateral spastic paresis
- Lateral spinothalamic tracts –> Bilateral loss of pain and temperature sensation
What are the affected spinal tracts in syringomyelia + clinical features associated?
- Ventral horns –> Flacid paresis (typically affecting the intrinsic hand muscles)
- Lateral spinothalamic tract –> Loss of pain and temperature sensation
How does MS affect the spinal cord?
Asymmetrical, varying spinal tracts affected –> causing a combination of motor, sensory, and ataxia symptoms
What spinal tracts are affected in neurosyphilis (tabes dorsalis) + associated clinical features
Dorsal columns –> Loss of proprioception and vibration sensation
What is spinal stenosis?
Narrowing of the spinal canal, leading to compression of the spinal cord or nerve roots
Which regions of the spine are most commonly affected by spinal stenosis?
Cervical and lumbar spine, with lumbar spinal stenosis being the most common
What age group is most commonly affected by spinal stenosis?
Patients older than 60 years due to degenerative changes
What are the three types of spinal stenosis?
- Central stenosis – narrowing of the central spinal canal
- Lateral stenosis – narrowing of the nerve root canals
- Foraminal stenosis – narrowing of the intervertebral foramina
What are some common causes of spinal stenosis?
- Congenital spinal stenosis
- Degenerative changes (facet joint changes, disc disease, bone spurs)
- Herniated discs
- Thickening of ligamenta flava or posterior longitudinal ligament
- Spinal fractures
- Spondylolisthesis (anterior vertebral displacement)
- Tumours
How do symptoms of spinal stenosis typically present?
Gradual onset of symptoms that worsen with standing and walking, but improve with sitting and spinal flexion
What is the key symptom of lumbar spinal stenosis with central stenosis?
Intermittent neurogenic claudication (also called pseudoclaudication)
What are the symptoms of intermittent neurogenic claudication?
- Lower back pain
- Buttock and leg pain
- Leg weakness
- Symptoms relieved by bending forward (shopping cart sign –> symptoms relieved by bending over shopping cart as this flexes the spine)
How can intermittent neurogenic claudication be differentiated from peripheral arterial disease (PAD)?
- Spinal stenosis: Normal pulses & ankle-brachial pressure index (ABPI), relieved by spinal flexion, back pain present
- PAD: Reduced pulses & ABPI, worsened by exertion, not relieved by posture changes, no back pain
.
ABPI and CT angiogram can both be used to help differentiate
What symptoms are associated with lateral or foraminal stenosis?
Sciatica (radiculopathy) with motor and sensory symptoms
What are the red flag symptoms of severe spinal stenosis?
Cauda equina syndrome (saddle anaesthesia, incontinence, sexual dysfunction)
- requiring emergency management
What is the primary imaging investigation for diagnosing spinal stenosis?
MRI
What are the management options for spinal stenosis?
- Conservative –> exercise and weight loss, analgesia, physiotherapy
- Decompression surgery (when conservative treatment fails) –> laminectomy - partial/complete removal of the lamina from affected vertebra
What is cauda equina syndrome?
A surgical emergency caused by compression of the cauda equina nerve roots, requiring urgent decompression to prevent permanent neurological damage
- however, even with immediate decompression, patients may still not regain full function
What is the cauda equina?
- a collection of nerve roots that travel through the spinal canal after the spinal cord terminates around L2/L3
- the spinal cord tapers down at the end in a section called the conus medullaris
- the nerve roots then exit either side of the spinal column at their respective vertebral level
What functions do the cauda equina nerves supply?
- Sensation –> to the lower limbs, perineum, bladder and rectum
- Motor innervation –> to the lower limbs, and the anal/urethral sphincters
- Parasympathetic innervation –> bladder and rectum control
What is the most common cause of cauda equina syndrome, and what are some other causes?
Herniated disc
.
Other:
- Tumours (especially metastases)
- Spondylolisthesis (vertebral displacement)
- Abscess (infection)
- Trauma
What are the key red flag symptoms of cauda equina syndrome?
-Saddle anaesthesia (loss of sensation in the perineum – around the genitals and anus)
- Loss of bladder/rectal sensation (not knowing when they are ‘full’)
- Urinary retention or incontinence
- Faecal incontinence
- Bilateral sciatica
- Bilateral or severe motor weakness in the legs
- Reduced anal tone on PR examination
How is cauda equina syndrome diagnosed + what is the management of cauda equina syndrome?
- Immediate hospital admission
- Urgent MRI scan - to confirm or exclude cauda equina syndrome
- Neurosurgical input for emergency lumbar decompression surgery
What are potential long-term complications of cauda equina syndrome, even after decompression surgery?
- Bladder, bowel, or sexual dysfunction
- Leg weakness
- Persistent sensory deficits
How is MSCC (metastatic spinal cord compression) different from cauda equina syndrome?
- MSCC involves compression of the spinal cord (before the end of the spinal cord and the start of the cauda equina)
- MSCC therefore presents with UMN signs –> increased tone, brisk reflexes, and upgoing plantar responses)
- Whereas cauda equina presents with LMN signs (as the nerves being compressed are lower motor neurons that have already exited the spinal cord) –> reduced tone and reduced reflexes
What are the key clinical features of MSCC (metastatic spinal cord compression)?
MSCC presents similarly to cauda equina, with back pain and motor/sensory signs and symptoms
- a key feature is back pain that is worse on coughing or straining
- MSCC also presents with UMN signs (increased tone, brisk reflexes, upgoing plantars)
What is the emergency management of MSCC (metastatic spinal cord compression)?
- High-dose dexamethasone (to reduce swelling and relieve compression)
- Analgesia
- Surgery, radiotherapy, or chemotherapy depending on cause
.
(a specialist MSCC coordinator should be involved to arrange imaging and treatment)
What are the main cancers that metastasise to the bones (eg. spinal metastases)?
- Prostate
- Renal
- Thyroid
- Breast
- Lung
What are the main risk factors for degenerative cervical myelopathy (DCM)?
- Smoking (affects intervertebral discs)
- Genetics
- Occupation (high axial loading)
Why is degenerative cervical myelopathy (DCM) difficult to diagnose early + what is a key warning sign for DCM?
- Symptoms are subtle, variable, and fluctuate day to day, leading to delays in recognition
. - Worsening, deteriorating, or new symptoms in a progressive manner
What symptoms can DCM (degenerative cervical myelopathy) cause?
- Pain (neck, upper or lower limbs)
- Loss of motor function (loss of digital dexterity - preventing simple tasks such as doing up buttons/holding a fork, arm or leg weakness/stiffness - leading to impaired gait/balance)
- Loss of sensory function (numbness)
- Loss of autonomic function (urinary/faecal incontinence and/or impotence) –> does not necessarily suggest cauda equina syndrome in the absence of other hallmark signs
What is Hoffmann’s sign, and what does it indicate?
a reflex test to assess for cervical myelopathy –> flicking a finger causes involuntary twitching of other fingers on the same hand
- a positive Hoffmann’s sign suggests cervical myelopathy
What is the gold-standard investigation for DCM (degenerative cervical myelopathy)?
MRI of the cervical spine
What is the key principle in managing DCM (degenerative cervical myelopathy) + what is the only effective treatment for DCM?
- Early referral to specialist spinal services (neurosurgery or orthopaedics) is essential to prevent permanent spinal cord damage
. - Decompressive surgery is the only effective treatment (prevents progression)
.
(note: physiotherapy should only be initiated by specialist services, as manipulation can cause more spinal damage)
Do cerebellar lesions cause ipsilateral or contralateral signs?
Ipsilateral signs
What mnemonic is used to remember cerebellar disease symptoms?
DANISH:
- D - Dysdiadochokinesia, Dysmetria (past-pointing), patients may appear ‘Drunk’
- A - Ataxia (limb, truncal)
- N - Nystamus (horizontal = ipsilateral hemisphere lesion)
- I - Intention tremour
- S - Slurred staccato speech (scanning dysarthria)
- H - Hypotonia
Name some causes of cerebellar syndrome
- chronic alcohol abuse - leading to cerebellar atrophy
- stroke
- multiple sclerosis - cerebellar demyelination
- tumours - cerebellar metastases, primary brain tumours (eg. cerebellar hemangioma)
- drugs and toxins - phenytoin, lead poisoning
- herediatry ataxias - Friedreich’s ataxia, ataxic telangiectasia
- paraneoplastic syndromes - eg. secondary to lung cancer
What is hydrocephalus?
a condition in which there is an excessive volume of cerebrospinal (CSF) fluid within the ventricular system of the brain, caused by an imbalance between CSF production and absorption
What are common symptoms of hydrocephalus?
Symptoms are due to raised intracranial pressure, which include:
- Headache (worse in morning/lying down/during Valsalva maneuver)
- Nausea and vomiting
- Papilloedema
- Coma (severe cases)
How does hydrocephalus present in infants?
Since infants have skull sutures that are not yet fused, the rise in ICP caused by hydrocephalus will cause an increase in head circumference
- bulging of the anterior fontanelle
What are the two categories of hydrocephalus?
Obstructive (‘non-communicating’) hydrocephalus:
- caused by a structural blockage that impedes CSF flow
- causes: * tumours, acute haemorrhage (e.g., subarachnoid or intraventricular haemorrhage), and developmental abnormalities (e.g., aqueduct stenosis)*
.
Non-obstructive (‘communicating’) hydrocephalus:
- due to an imbalance of CSF production absorption
What is the first-line investigation for hydrocephalus?
CT head –> fast and provides adequate resolution of brain and ventricles
.
(MRI can be used if more details are needed - eg. underlying lesion)
What role does lumbar puncture play in hydrocephalus?
*when should lumbar puncture not be used?
Lumbar puncture is both diagnostic and therapeutic - allows you to sample CSF, measure opening pressure, but also to drain CSF to reduce the pressure
.
*Lumbar puncture must not be used in obstructive hydrocephalus since the difference of cranial and spinal pressures induced by the drainage of CSF will cause brain herniation
What are the treatment options for hydrocephalus?
- External ventricular drain (EVD) - used in acute, severe hydrocephalus, CSF is drained into a bag at bedside
- Ventriculoperitoneal (VP) shunt - long-term CSF diversion technique that drains CSF from ventricles to peritoneum
- Obstructive hydrocephalus –> surgical removal of obstructing pathology
What is normal pressure hydrocephalus?
- a unique form of non-obstructive hydrocephalus, characterised by large ventricles, but normal ICP
- it is a reversible cause of dementia seen in elderly patients (can be secondary to reduced CSF absorption at the arachnoid villi, due to head injury, SAH, or meningitis)
What is the classic triad of symptoms seen in normal pressure hydrocephalus?
- urinary incontinence
- dementia and bradyphrenia
- gait abnormality (may be similar to Parkinson’s disease)
What is the typical imaging finding in normal pressure hydrocephalus?
Imaging shows hydrocephalus with ventriculomegaly in the absence of, or out of proportion to, sulcal enlargement
.
(CT scan of an elderly male patient showing hydrocephalus, with dilatation of the 3rd ventricle and lateral ventricels, with the characteristic absence of sulcal enlargement)
What is the main management option for normal pressure hydrocephalus + what are the potential complications in which 10% of patients will experience?
Ventriculoperitoneal (VP) shunting
.
10% of pts will experience complications such as:
- seizures
- infection
- intracerebral haemorrhages
Explain why in ‘coning’ of the brain, there is hypertension and bradycardia
- The brain autoregulates its blood supply, as ICP rises the systemic circulation will display changes to try and meet the perfusion needs of the brain –> usually this will involve hypertension
- As ICP rises further, the brain will be compressed, cranial nerve palsies may be seen and compression of essential centres in the brain stem will occur –> when the cardiac centre is involved bradycardia will often develop
